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1.
Eur J Public Health ; 33(1): 49-55, 2023 02 03.
Artigo em Inglês | MEDLINE | ID: mdl-36453890

RESUMO

BACKGROUND: Within the current context of continued austerity and post-pandemic recovery, it remains important that Local Government services address the increasing needs of residents as cost-effectively as possible. Alliancing, whereby services work collaboratively focusing on the 'whole-system', has gained popularity as a tool with the potential to support collaborative whole systems approaches. This synthesis aims to identify how alliancing can be successfully operationalised in the commissioning of public health, wider National Health Service (NHS) and social care-related services. METHODS: A realist literature synthesis was undertaken in order to identify underlying generative mechanisms associated with alliancing, the contextual conditions surrounding the implementation and operationalisation of the alliancing approach mechanisms, and the outcomes produced as a result. An iterative approach was taken, using a recent systematic review of the effectiveness of Alliancing, online database searches, and grey literature searches. RESULTS: Three mechanistic components were identified within the data as being core to the successful implementation of alliances in public health and social care-related services within Local Government: (i) Achieving a system-level approach; (ii) placing local populations at the heart of the system; and (iii) creating a cultural shift. Programme theories were postulated within these components. CONCLUSIONS: The alliancing approach offers an opportunity to achieve system-level change with the potential to benefit local populations. The realist synthesis approach taken within this study has provided insights into the necessary contextual and mechanistic factors of the Alliancing approach, above and beyond effectiveness outcomes typically collected through more conventional evaluation methodologies.


Assuntos
Saúde Pública , Medicina Estatal , Humanos , Governo Local , Projetos de Pesquisa , Grupos Populacionais
2.
J Intellect Disabil Res ; 65(10): 930-940, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-33988262

RESUMO

BACKGROUND: There is a high use of medications in adults with intellectual disability (ID). One implication of taking multiple medications is the potential for drug-drug interactions (DDIs). However, despite this being well highlighted in the mainstream literature, little is known about the incidence or associations of DDIs in the ID population. METHODS: This study describes the prevalence, patterns and associations of potential DDIs in a total administrative sample of adults with ID known to services in Jersey. Demographic, health-related and medication data were collected from 217 adults known to ID services. Data were collected using a face-to-face survey. The Anatomical Therapeutic Chemical classification system was used to categorise medications, and Stockley's Drug Interaction Checker was used to classify potential DDIs. Drug-drug pairings were considered to be of clinical significance if they were to be 'avoided, adjusted, monitored or required further information'. RESULTS: Potential DDIs of clinical significance were common. Exposure to potential DDIs of clinical significance was associated with being female, taking more than five medications (polypharmacy), living in residential care and having more health conditions. A simple regression was used to understand the effect of number of prescribed medications on potential DDIs of clinical significance. Every prescribed drug led to a 0.87 (95% confidence interval: 0.72-1.00) increase in having a potential DDI of clinical significance. CONCLUSION: Adults with ID who live in residential care, who are female, exposed to polypharmacy and have more health conditions may be more likely to have potential DDIs of clinical significance. Urgent consideration needs to be given to the potential of DDIs in this population given their exposure to high levels of medication.


Assuntos
Deficiência Intelectual , Preparações Farmacêuticas , Adulto , Interações Medicamentosas , Feminino , Humanos , Deficiência Intelectual/tratamento farmacológico , Deficiência Intelectual/epidemiologia , Polimedicação , Prevalência
3.
Eur J Prosthodont Restor Dent ; 29(1): 35-45, 2021 Feb 25.
Artigo em Inglês | MEDLINE | ID: mdl-33026723

RESUMO

OBJECTIVES: To study the potential benefits of a post-cure thermal treatment on key physico-mechanical properties of light-cured resin-based composites for use in indirect restorations, a CAD/CAM composite block being used as control. MATERIAL AND METHODS: Six commercial composites were light-cured before being thermally treated in a furnace at 90°C during 15 minutes (CAD/CAM composite used as a control). The properties measured with or without thermal treatment were: degree of conversion, flexural strength, elastic modulus, Vickers microHardness, organic mass content and eluted and absorbed mass before and after storage in ethanol. The data were analysed using one-way ANOVA, and Weibull distributions. RESULTS: A general increase in the properties measured was observed for all materials after thermal treatment, except a general decrease in mass elution and absorption (most statistically significant: p⟨0.05). Weibull analysis showed a tendency (p⟩0.05) of increased reliability of the flexural strength after thermal treatment for all materials. CONCLUSION: The present data revealed clear physico-mechanical improvements after thermal treatment of light-cured composites. Such method could hence be beneficially used to produce indirect restorations as compared to stratifying and light-curing the same composites in situ. However, most properties of the control CAD/CAM composite were higher, but CAD/CAM technologies aren't available everywhere.


Assuntos
Resinas Compostas , Materiais Dentários , Desenho Assistido por Computador , Teste de Materiais , Reprodutibilidade dos Testes , Propriedades de Superfície
4.
Occup Med (Lond) ; 68(9): 580-586, 2018 Dec 26.
Artigo em Inglês | MEDLINE | ID: mdl-30544239

RESUMO

BACKGROUND: Recent evidence suggests that some women experience menopausal symptoms that impact on their working lives, and that work environments can impact upon the experience of menopause. As a result, guidance for employers and other key stakeholders about this potential occupational health issue has emerged. To date there has not been a review of these documents to identify their main recommendations for policy and practice. AIMS: To provide a narrative overview of such guidance and summary of content. METHODS: Documents published in the UK and available in a major UK trade union library were searched systematically to identify guidance on the topic of menopause and work. An inductive thematic analysis was performed to identify the main themes addressed. RESULTS: Twenty-five relevant documents, on average eight pages long, were identified. A minority indicated that the use of scientific evidence informed the content. Five overarching themes were identified: (i) legislation; (ii) policy; (iii) information and training needs; (iv) workplace support; and (v) the physical work environment. CONCLUSIONS: This overview of UK guidance revealed common areas of concern about reducing and managing difficulties experienced by working menopausal women. Possible areas for action were identified. Some recommendations were common across much of the guidance, whereas others were exclusive. Future guidance might include consideration of all these issues, while making reference both to the evidence base and sources of further information.


Assuntos
Menopausa/psicologia , Local de Trabalho/psicologia , Guias como Assunto/normas , Humanos , Sindicatos/estatística & dados numéricos , Saúde Ocupacional/normas , Saúde Ocupacional/tendências , Política Pública/tendências , Apoio Social , Reino Unido
5.
Development ; 141(22): 4311-9, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25371365

RESUMO

The class I KNOX transcription factors SHOOT MERISTEMLESS (STM) and KNAT1 are important regulators of meristem maintenance in shoot apices, with a dual role of promoting cell proliferation and inhibiting differentiation. We examined whether they control stem cell maintenance in the cambium of Arabidopsis hypocotyls, a wood-forming lateral meristem, in a similar fashion as in the shoot apical meristem. Weak loss-of-function alleles of KNAT1 and STM led to reduced formation of xylem fibers - highly differentiated cambial derivatives - whereas cell proliferation in the cambium was only mildly affected. In a knat1;stm double mutant, xylem fiber differentiation was completely abolished, but residual cambial activity was maintained. Expression of early and late markers of xylary cell differentiation was globally reduced in the knat1;stm double mutant. KNAT1 and STM were found to act through transcriptional repression of the meristem boundary genes BLADE-ON-PETIOLE 1 (BOP1) and BOP2 on xylem fiber differentiation. Together, these data indicate that, in the cambium, KNAT1 and STM, contrary to their function in the shoot apical meristem, promote cell differentiation through repression of BOP genes.


Assuntos
Proteínas de Arabidopsis/metabolismo , Arabidopsis/crescimento & desenvolvimento , Regulação da Expressão Gênica de Plantas/fisiologia , Proteínas de Homeodomínio/metabolismo , Hipocótilo/citologia , Meristema/crescimento & desenvolvimento , Fatores de Transcrição/metabolismo , Câmbio/citologia , Diferenciação Celular/fisiologia , Proliferação de Células/fisiologia , Regulação da Expressão Gênica de Plantas/genética , Imuno-Histoquímica , Reação em Cadeia da Polimerase em Tempo Real
6.
J Intern Med ; 282(1): 102-113, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28514081

RESUMO

BACKGROUND: Obesity is highly prevalent in African American women, especially those in the rural southern USA, resulting in persistent health disparities. OBJECTIVE: To test the effectiveness of an evidence-based behavioural weight loss intervention delivered by community health advisors to African American women in the rural south. DESIGN AND METHODS: Overweight or obese African American women (30-70 years) from eight counties in Mississippi and Alabama participated in a 24-month randomized controlled trial of an evidence-based behavioural weight loss programme augmented with community strategies to support healthy lifestyles (Weight Loss Plus, N = 154) compared to the weight loss programme alone (Weight Loss Only, N = 255). This study reports on 6-month outcomes on primary (weight change) and secondary (waist circumference, blood pressure, lipids, fasting blood glucose) outcomes, coinciding with the completion of the intensive weight loss phase. RESULTS: Weight Loss Only participants lost an average of 2.2 kg (P < 0.001). Weight Loss Plus participants lost an average of 3.2 kg (P < 0.001). The proportion of the total sample that lost at least 5% of their body weight was 27.1% with no difference between treatment groups. Similarly, we observed statistically significant reductions in blood pressure, waist circumference and triglycerides in each treatment group, with no statistical differences between groups. CONCLUSION: Trained lay health staff and volunteers from the rural southern USA were able to deliver a translation of a high-intensity behavioural intervention targeted to African American women, resulting in clinically meaningful weight loss and improvement in other metabolic outcomes in a significant proportion of participants.


Assuntos
Negro ou Afro-Americano , Obesidade/etnologia , Obesidade/terapia , Sobrepeso/etnologia , Sobrepeso/terapia , Redução de Peso , Adulto , Idoso , Terapia Comportamental , Glicemia/metabolismo , Pressão Sanguínea , Restrição Calórica , Dieta Redutora , Terapia por Exercício , Feminino , Humanos , Lipídeos/sangue , Pessoa de Meia-Idade , Obesidade/sangue , Sobrepeso/sangue , Fatores de Risco , Resultado do Tratamento , Triglicerídeos/sangue , Circunferência da Cintura
8.
Clin Exp Allergy ; 45(10): 1510-22, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25962695

RESUMO

Activin A, a member of the TGF-ß superfamily of cytokines, was originally identified as an inducer of follicle stimulating hormone release, but has since been ascribed roles in normal physiological processes, as an immunoregulatory cytokine and as a driver of fibrosis. In the last 10-15 years, it has also become abundantly clear that activin A plays an important role in the regulation of asthmatic inflammation and airway remodelling. This review provides a brief introduction to the activin A/TGF-ß superfamily, focussing on the regulation of receptors and signalling pathways. We examine the contradictory evidence for generalized pro- vs. anti-inflammatory effects of activin A in inflammation, before appraising its role in asthmatic inflammation and airway remodelling specifically by evaluating data from both murine models and clinical studies. We identify key issues to be addressed, paving the way for safe exploitation of modulation of activin A function for treatment of allergic asthma and other inflammatory lung diseases.


Assuntos
Ativinas/imunologia , Remodelação das Vias Aéreas/imunologia , Asma/imunologia , Fibrose Pulmonar/imunologia , Transdução de Sinais/imunologia , Animais , Asma/patologia , Humanos , Inflamação/imunologia , Inflamação/patologia , Camundongos , Fibrose Pulmonar/patologia
9.
J Am Acad Dermatol ; 73(4): 543-60; quiz 561-2, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26369839

RESUMO

Dermatologists perform many procedures that require acute pain control with local anesthesia and, in some cases, management of postoperative pain. Identifying early risk factors before a procedure can better prepare both the patient and provider anticipate acute postsurgical pain needs. Taking a multimodal, algorithmic approach to managing acute postsurgical pain in dermatology practice can effectively attenuate acute postsurgical paint and reduce patient opioid requirements.


Assuntos
Manejo da Dor/métodos , Medição da Dor , Dor Pós-Operatória/diagnóstico , Dor Pós-Operatória/tratamento farmacológico , Dor Aguda/diagnóstico , Dor Aguda/tratamento farmacológico , Analgésicos/uso terapêutico , Analgésicos Opioides/uso terapêutico , Anti-Inflamatórios não Esteroides/uso terapêutico , Procedimentos Cirúrgicos Dermatológicos/efeitos adversos , Procedimentos Cirúrgicos Dermatológicos/métodos , Dermatologia/métodos , Feminino , Humanos , Masculino , Medição de Risco , Resultado do Tratamento
10.
Plant J ; 74(1): 134-47, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23294247

RESUMO

The Arabidopsis inflorescence stem undergoes rapid directional growth, requiring massive axial cell-wall extension in all its tissues, but, at maturity, these tissues are composed of cell types that exhibit markedly different cell-wall structures. It is not clear whether the cell-wall compositions of these cell types diverge rapidly following axial growth cessation, or whether compositional divergence occurs at earlier stages in differentiation, despite the common requirement for cell-wall extensibility. To examine this question, seven cell types were assayed for the abundance and distribution of 18 major cell-wall glycan classes at three developmental stages along the developing inflorescence stem, using a high-throughput immunolabelling strategy. These stages represent a phase of juvenile growth, a phase displaying the maximum rate of stem extension, and a phase in which extension growth is ceasing. The immunolabelling patterns detected demonstrate that the cell-wall composition of most stem tissues undergoes pronounced changes both during and after rapid extension growth. Hierarchical clustering of the immunolabelling signals identified cell-specific binding patterns for some antibodies, including a sub-group of arabinogalactan side chain-directed antibodies whose epitope targets are specifically associated with the inter-fascicular fibre region during the rapid cell expansion phase. The data reveal dynamic, cell type-specific changes in cell-wall chemistry across diverse cell types during cell-wall expansion and maturation in the Arabidopsis inflorescence stem, and highlight the paradox between this structural diversity and the uniform anisotropic cell expansion taking place across all tissues during stem growth.


Assuntos
Arabidopsis/citologia , Parede Celular/metabolismo , Epitopos/análise , Caules de Planta/crescimento & desenvolvimento , Arabidopsis/crescimento & desenvolvimento , Análise por Conglomerados , Imuno-Histoquímica , Inflorescência/citologia , Inflorescência/crescimento & desenvolvimento , Caules de Planta/citologia
11.
Mol Genet Metab ; 112(2): 183-9, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24745848

RESUMO

Phospholipase A2 associated neurodegeneration (PLAN) is a major phenotype of autosomal recessive Neurodegeneration with Brain Iron Accumulation (NBIA). We describe the clinical phenotypes, neuroimaging features and PLA2G6 mutations in 5 children, of whom 4 presented with infantile neuroaxonal dystrophy (INAD). One other patient was diagnosed with the onset of PLAN in childhood, and our report highlights the diagnostic challenges associated with this atypical PLAN subtype. In this series, the neuroradiological relevance of classical PLAN features as well as apparent claval hypertrophy' is explored. Novel PLA2G6 mutations were identified in all patients. PLAN should be considered not only in patients presenting with a classic INAD phenotype but also in older patients presenting later in childhood with non-specific progressive neurological features including social communication difficulties, gait disturbance, dyspraxia, neuropsychiatric symptoms and extrapyramidal motor features.


Assuntos
Fosfolipases A2 do Grupo VI/genética , Distrofias Neuroaxonais/diagnóstico por imagem , Distrofias Neuroaxonais/patologia , Idade de Início , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Pré-Escolar , Feminino , Variação Genética , Humanos , Lactente , Irlanda , Masculino , Mutação , Distrofias Neuroaxonais/genética , Fenótipo , Radiografia , Reino Unido
12.
J Evol Biol ; 27(1): 116-32, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24330186

RESUMO

Rapid geographic range expansions can have dramatic effects on the distribution of genetic diversity, both within and among populations. Based on field records collected over the past two decades in Western Europe, we report on the rapid geographic range expansion in Colletes hederae, a solitary bee species. To characterize how this expansion shaped the distribution of genetic diversity within and among populations, we performed a genetic analysis based on the sequencing of three nuclear loci (RNAp, CAD and WgL). We then simulated the evolution of DNA sequences under a spatially explicit model of coalescence to compare different hypotheses regarding the mode of colonization associated with this rapid expansion and to identify those that are most consistent with the observed molecular data. Our genetic analyses indicate that the range expansion was not associated with an important reduction in genetic diversity, even in the most recently colonized area in the United Kingdom. Moreover, little genetic differentiation was observed among populations. Our comparative analysis of simulated data sets indicates that the observed genetic data are more consistent with a demographic scenario involving relatively high migration rates than with a scenario based on a high reproduction rate associated with few migrants. In the light of these results, we discuss the factors that might have contributed to the rapid geographic range expansion of this pollen-specialist solitary bee species across Western Europe.


Assuntos
Abelhas/genética , Animais , Sequência de Bases , Europa (Continente) , Evolução Molecular , Feminino , Variação Genética , Masculino , Dados de Sequência Molecular , Filogeografia
13.
J Safety Res ; 90: 181-191, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39251276

RESUMO

INTRODUCTION: To the authors' knowledge, no systematic review has examined the definition of safety leadership in the academic literature to date. A review was therefore carried out to determine how safety leadership was defined in the peer reviewed empirical literature and thematic analysis was employed to identify patterned meanings across the data. METHOD: Thirty-seven primary definitions, or definitions that were not borrowed from other studies, were identified. Of these 37, seven conceptual definitions were found to be evidence-based, six of which were endorsed by their operational counterpart definitions and one which was derived using exploratory research. RESULTS: These seven definitions showed strong alignment with the three themes that emerged from the thematic analysis that capture the why, how, and who of safety leadership. Transformational leadership theory formed the foundation for many of the definitions in the academic literature, despite recent evidence suggesting that adopting multiple forms of leadership styles would be more effective for improving workplace safety. PRACTICAL APPLICATIONS: Gaps in the current evidence base are explored and suggestions for future research are discussed.


Assuntos
Liderança , Humanos , Gestão da Segurança/organização & administração , Terminologia como Assunto
14.
Artigo em Inglês | MEDLINE | ID: mdl-39287762

RESUMO

The Deep South is the epicenter of the HIV-epidemic in the United States, with rural AAs bearing the greatest burden. Traditional efforts to improve testing efforts have been largely unsuccessful due to their failure to recognize and leverage the sociopolitical and cultural factors that affect the uptake of HIV-screening interventions at the community level. The purpose of this study was to gain a deeper understanding of the socio-cultural contexts impacting HIV-testing in the rural South, and to assess strategies to increase testing in rural, Southern communities. Focus groups (n = 8) and semi-structured interviews (n = 31) were conducted among community and faith-based leaders in Alabama and Mississippi, to inform our understanding of local perceptions of HIV infection, barriers and facilitators impacting HIV-testing, and best strategies for improving testing efforts at the local level. Interviews and focus groups were audio-recorded, transcribed verbatim, and analyzed to extract major themes. While both faith-based and community leaders reported at least some stigmatizing attitudes towards HIV infection, faith-based leaders were more likely to report discomfort being around someone with HIV and were more likely to link the spread of HIV to immoral behaviors. The combination of the cultural importance of the Church, deep-seated religiosity among community members, and faith-based messages associating HIV infection with immorality directly impacted HIV stigma within the community-in turn, decreasing willingness to participate in HIV-testing, disclose positive HIV serostatus, or openly discuss transmission protection behaviors. The Church was identified as crucial to include to improve HIV-testing efforts in the rural South, due to their prominent sociopolitical roles within communities and ability to influence community members' perceptions of HIV stigma. Faith-based leaderships should be included in initiatives to increase improve HIV-testing and awareness of status and reduce HIV disparities in the Deep South.

15.
ESMO Open ; 9(10): 103634, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39461774

RESUMO

BACKGROUND: Burnout in health care professionals (HCPs) results from exposure to psychosocial risks at work. Left unaddressed, burnout can lead to chronic health problems, increased staff turnover, reduced work hours, absenteeism, and early retirement from clinical practice, thus impacting patient care. The European Society for Medical Oncology (ESMO) Resilience Task Force (RTF) was established in December 2019 to support the well-being of oncology HCPs globally. This ESMO RTF position paper aims to provide a set of recommendations to optimise well-being and mitigate burnout in oncology, and to help individuals and institutions maintain the delivery of optimal cancer care. DESIGN: Recommendations were developed by a diverse multinational panel of interprofessional experts based on the key findings from three previously reported ESMO RTF surveys. RESULTS: Several recurrent work-related psychosocial risks in oncology were identified; in particular, concerns about workload and professional development. The need for flexible work patterns, continued use of virtual resources, well-being resources, and targeted support for at-risk groups were highlighted as key considerations to safeguard HCPs' health and prevent burnout. In total, 11 recommendations relating to three priority themes were developed: (i) information and training; (ii) resources; (iii) activism and advocacy. CONCLUSION: Optimising the well-being of oncology HCPs is essential for the provision of high-quality, sustainable care for patients globally. The ESMO RTF will continue its mission and is rolling out several initiatives and activities to support the implementation of these recommendations.


Assuntos
Esgotamento Profissional , Oncologia , Humanos , Esgotamento Profissional/prevenção & controle , Oncologia/normas , Comitês Consultivos , Pessoal de Saúde/psicologia , Resiliência Psicológica , Europa (Continente)
16.
Rev Sci Instrum ; 95(10)2024 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-39365111

RESUMO

To benchmark the accuracy of the models and improve the predictive capability of future experiments, the National Ignition Facility requires measurements of the physical conditions inside inertial confinement fusion hohlraums. The ion temperature and bulk motion velocity of the gas-filled regions of the hohlraum can be obtained by replacing the helium tamping gas in the hohlraum with deuterium-tritium (DT) gas and measuring the Doppler broadening and Doppler shift of the neutron spectrum produced by nuclear reactions in the hohlraum. To understand the spatial distribution of the neutron production inside the hohlraum, we have developed a new penumbral neutron imager with a 12 mm diameter field of view using a simple tungsten alloy spindle. We performed the first experiment using this imager on a DT gas-filled hohlraum and successfully obtained the spatial distribution of neutron production in the hohlraum plasma. We will report on the design of the spindle, characterization of the detectors, and methodology of the image reconstruction.

18.
Rev Laryngol Otol Rhinol (Bord) ; 134(4-5): 175-8, 2013.
Artigo em Francês | MEDLINE | ID: mdl-25252570

RESUMO

INTRODUCTION: The rhinoplasty is a difficult operation in plastic surgery of the face. The principles of the extracorporeal septoplasty were launched in the 50's, consisting of the treatment of the septal framework outside the nose. The most recent evolution, which is the creation of nasal frameworks required a precise evaluation of the results. PATIENTS AND METHODS: The patients having benefited from a rhinoseptoplasty by nasal frameworks are included. Eleven criteria are studied. Every patient is rated before and after rhinoplasty procedure, one point if improvement of the criterion, zero if no modification and -1 if degradation of the criterion. RESULTS: Sixty three patients were operated, 54 women and 9 men. The postoperative average follow-up is of 5 months. CONCLUSIONS: The cartilaginous nasal frameworks, allows on complex noses (diverted, traumatic), an improvement of the righteousness of the dorsum (88%), of the projection of the tip (82.5%), of the naso-labial angle (84%), lines of Sheen (63%). An extension of the middle nose is observed in 28% of the patients, counterparty of a functional and inhaling nose.


Assuntos
Septo Nasal/cirurgia , Nariz/cirurgia , Desenho de Prótese , Rinoplastia/métodos , Adulto , Feminino , Humanos , Masculino , Cartilagens Nasais/cirurgia , Cartilagens Nasais/transplante , Septo Nasal/patologia , Complicações Pós-Operatórias , Período Pós-Operatório , Estudos Retrospectivos
19.
Clin Genet ; 82(1): 71-6, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21651513

RESUMO

. The relationship of mutations in the patched gene PTCH and nevoid basal cell carcinoma (NBCC) or Gorlin syndrome is well established. Animal studies have implicated the hedgehog-patched signalling pathway in neurulation and neural tube defects (NTDs). Spina bifida occulta and bifid vertebrae are well recognized in NBCCS, but there appears to be only one report of open spina bifida. We report a father and two sons with a truncating PTCH mutation and the major features of NBCCS. One son had open thoracic spina bifida and the other had an occipital meningocoele. We believe this to be the first report of cranial NTD in NBCCS and suggest that consideration be given to including PTCH analysis in genetic association studies in NTDs as the hedgehog pathway is integral to normal human neurulation.


Assuntos
Síndrome do Nevo Basocelular/genética , Encefalocele/genética , Tubo Neural/metabolismo , Receptores de Superfície Celular/genética , Espinha Bífida Oculta/genética , Adulto , Síndrome do Nevo Basocelular/patologia , Códon sem Sentido , Análise Mutacional de DNA , Encefalocele/patologia , Éxons , Haploinsuficiência , Humanos , Masculino , Pessoa de Meia-Idade , Tubo Neural/patologia , Receptores Patched , Receptor Patched-1 , Espinha Bífida Oculta/patologia
20.
Rev Sci Instrum ; 93(10): 103543, 2022 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-36319345

RESUMO

Inertial confinement fusion experiments at both the National Ignition Facility (NIF) and the Laboratory for Laser Energetics OMEGA laser facility currently utilize Cherenkov detectors, with fused silica as the Cherenkov medium. At the NIF, the Quartz Cherenkov Detectors improve the precision of neutron time-of-flight measurements; and at OMEGA, the Diagnostic for Areal Density provides measurements of capsule shell areal densities. An inherent property of fused silica is the radiator's relatively low energy threshold for Cherenkov photon production (Ethreshold < 1 MeV), making it advantageous over gas-based Cherenkov detectors for experiments requiring low-energy γ detection. The Vacuum Cherenkov Detector (VCD) has been specifically designed for efficient detection of low energy γ's. Its primary use is in implosion experiments, which will study reactions relevant to stellar and big-bang nucleosynthesis, such as T(4He,γ)7Li, 4He(3He,γ)7Be, and 12C(p,γ)13N. The VCD is compatible with LLE's standard Ten-Inch Manipulator diagnostic insertion module. This work will outline the design and characterization of the VCD as well as provide results from recent experiments conducted at the OMEGA laser facility.

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