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PURPOSE: To assess British doctors' work-life balance, home-life satisfaction and associated barriers. STUDY DESIGN: We designed an online survey using Google Forms and distributed this via a closed social media group with 7031 members, exclusively run for British doctors. No identifiable data were collected and all respondents provided consent for their responses to be used anonymously. The questions covered demographic data followed by exploration of work-life balance and home-life satisfaction across a broad range of domains, including barriers thereto. Thematic analysis was performed for free-text responses. RESULTS: 417 doctors completed the survey (response rate: 6%, typical for online surveys). Only 26% reported a satisfactory work-life balance; 70% of all respondents reported their work negatively affected their relationships and 87% reported their work negatively affected their hobbies. A significant proportion of respondents reported delaying major life events due to their working patterns: 52% delaying buying a home, 40% delaying marriage and 64% delaying having children. Female doctors were most likely to enter less-than-full-time working or leave their specialty. Thematic analysis revealed seven key themes from free-text responses: unsocial working, rota issues, training issues, less-than-full-time working, location, leave and childcare. CONCLUSIONS: This study highlights the barriers to work-life balance and home-life satisfaction among British doctors, including strains on relationships and hobbies, leading to many doctors delaying certain milestones or opting to leave their training position altogether. It is imperative to address these issues to improve the well-being of British doctors and improve retention of the current workforce.
Assuntos
Medicina , Médicos , Criança , Humanos , Feminino , Estudos Transversais , Equilíbrio Trabalho-Vida , Saúde da CriançaRESUMO
PURPOSE: To characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH). DESIGN: Multicenter, observational study. PARTICIPANTS: A total of 907 patients with a confirmed molecular diagnosis of albinism, PAX6, SLC38A8, FRMD7, AHR, or achromatopsia from 12 centers in 9 countries (n = 523) or extracted from publicly available datasets from previously reported literature (n = 384). METHODS: Individuals with a confirmed molecular diagnosis and availability of foveal OCT scans were identified from 12 centers or from the literature between January 2011 and March 2021. A genetic diagnosis was confirmed by sequence analysis. Grading of FH was derived from OCT scans. MAIN OUTCOME MEASURES: Grade of FH, presence or absence of photoreceptor specialization (PRS+ vs. PRS-), molecular diagnosis, and visual acuity (VA). RESULTS: The most common genetic etiology for typical FH in our cohort was albinism (67.5%), followed by PAX6 (21.8%), SLC38A8 (6.8%), and FRMD7 (3.5%) variants. AHR variants were rare (0.4%). Atypical FH was seen in 67.4% of achromatopsia cases. Atypical FH in achromatopsia had significantly worse VA than typical FH (P < 0.0001). There was a significant difference in the spectrum of FH grades based on the molecular diagnosis (chi-square = 60.4, P < 0.0001). All SLC38A8 cases were PRS- (P = 0.003), whereas all FRMD7 cases were PRS+ (P < 0.0001). Analysis of albinism subtypes revealed a significant difference in the grade of FH (chi-square = 31.4, P < 0.0001) and VA (P = 0.0003) between oculocutaneous albinism (OCA) compared with ocular albinism (OA) and Hermansky-Pudlak syndrome (HPS). Ocular albinism and HPS demonstrated higher grades of FH and worse VA than OCA. There was a significant difference (P < 0.0001) in VA between FRMD7 variants compared with other diagnoses associated with FH. CONCLUSIONS: We characterized the phenotypic and genotypic spectrum of FH. Atypical FH is associated with a worse prognosis than all other forms of FH. In typical FH, our data suggest that arrested retinal development occurs earlier in SLC38A8, OA, HPS, and AHR variants and later in FRMD7 variants. The defined time period of foveal developmental arrest for OCA and PAX6 variants seems to demonstrate more variability. Our findings provide mechanistic insight into disorders associated with FH and have significant prognostic and diagnostic value.
Assuntos
Albinismo Ocular , Albinismo Oculocutâneo , Albinismo , Defeitos da Visão Cromática , Albinismo Ocular/diagnóstico , Albinismo Ocular/genética , Albinismo Oculocutâneo/diagnóstico , Albinismo Oculocutâneo/genética , Defeitos da Visão Cromática/diagnóstico , Defeitos da Visão Cromática/genética , Proteínas do Citoesqueleto , Fóvea Central/anormalidades , Humanos , Proteínas de Membrana , Transtornos da Visão/diagnósticoRESUMO
PURPOSE: To assess British doctors' work-life balance, home-life satisfaction and associated barriers. STUDY DESIGN: We designed an online survey using Google Forms and distributed this via a closed social media group with 7031 members, exclusively run for British doctors. No identifiable data were collected and all respondents provided consent for their responses to be used anonymously. The questions covered demographic data followed by exploration of work-life balance and home-life satisfaction across a broad range of domains, including barriers thereto. Thematic analysis was performed for free-text responses. RESULTS: 417 doctors completed the survey (response rate: 6%, typical for online surveys). Only 26% reported a satisfactory work-life balance; 70% of all respondents reported their work negatively affected their relationships and 87% reported their work negatively affected their hobbies. A significant proportion of respondents reported delaying major life events due to their working patterns: 52% delaying buying a home, 40% delaying marriage and 64% delaying having children. Female doctors were most likely to enter less-than-full-time working or leave their specialty. Thematic analysis revealed seven key themes from free-text responses: unsocial working, rota issues, training issues, less-than-full-time working, location, leave and childcare. CONCLUSIONS: This study highlights the barriers to work-life balance and home-life satisfaction among British doctors, including strains on relationships and hobbies, leading to many doctors delaying certain milestones or opting to leave their training position altogether. It is imperative to address these issues to improve the well-being of British doctors and improve retention of the current workforce.
RESUMO
Natural soil (NS)-based geopolymers (GPs) have shown promise as environmentally friendly construction materials. The production of ordinary Portland cement is known to release significant amounts of greenhouse gas (CO2) into the atmosphere. The main objective of this work is to synthesize a geopolymer (GP) from an uncommon aluminosilicate-based NS and a sodium silicate (SS) activating solution that would not only minimize the emission of harmful gases, but also offer improved mechanical strength. Samples of different compositions were produced by varying the wt.% of NS from 50% to 80% and adding a balancing amount of SS solution. The drying and curing of the samples were carried out in an electric oven at specific temperatures. The degree of geopolymerization in the samples was measured by Fourier transform infrared spectroscopy, and microstructural analysis was performed using a scanning electron microscope. Mechanical tests were conducted to evaluate the range of compressive strength values of the prepared GP samples. A minimum compressive strength of 10.93 MPa at a maximum porosity of 37.56% was observed in a sample with an NS to SS ratio of 1:1; while a ratio of 3:1 led to the maximum compressive strength of 26.39 MPa and the minimum porosity of 24.60%. The maximum strength (26.39 MPa) was found to be more than the reported strength values for similar systems. Moreover, an improvement in strength by a factor of three has been observed relative to previously developed NS-based GPs. It may be inferred from the findings that for the given NS, with almost 90% aluminosilicate content, the extent of geopolymerization increases significantly with its increasing proportions, yielding better mechanical strength.
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Apoptosis is a form of programmed cell death (PCD) and enables the immunologically silent disposal of senescent or unwanted cells, causing minimal damage to the surrounding environment. Apoptosis can occur via intrinsic or extrinsic pathways that initiate a series of intracellular and extracellular signaling events. This ultimately leads to the clearance of the cell by phagocytes. This normal physiological mechanism may be accelerated in several diseases including those involving the eyes and brain, leading to loss of structure and function. This review presents the role of PCD in the health of the eyes and brain, and the evidence presented for its aberrant role in disease.
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Apoptose , Encefalopatias/metabolismo , Oftalmopatias/metabolismo , Transdução de Sinais , Animais , HumanosRESUMO
Infantile nystagmus (IN) may result from aetiologies including albinism and FRMD7 mutations. IN has low prevalence, and twins with IN are rare. Whilst discordant presentation has been previously reported for IN, we present for the first time the comprehensive assessment of diagnostically discordant monozygotic twins. From a cohort of over 2000 patients, we identified twins and triplets discordant for nystagmus. Using next-generation sequencing, high-resolution infra-red pupil tracking and optical coherence tomography, we characterised differences in genotype and phenotype. Monozygotic twins (n = 1), dizygotic twins (n = 3) and triplets (n = 1) were included. The monozygotic twins had concordant TYR variants. No causative variants were identified in the triplets. Dizygotic twins had discordant variants in TYR, OCA2 and FRMD7. One unaffected co-twin demonstrated sub-clinical nystagmus. Foveal hypoplasia (FH) was noted in four of five probands. Both co-twins of the monozygotic pair and triplets displayed FH. In three families, at least one parent had FH without nystagmus. FH alone may be insufficient to develop nystagmus. Whilst arrested optokinetic reflex pathway development is implicated in IN, discordant twins raise questions regarding where differences in development have arisen. In unaffected monozygotes therefore, genetic variants may predispose to oculomotor instability, with variable expressivity possibly responsible for the discordance observed.
Assuntos
Doenças em Gêmeos/genética , Nistagmo Patológico/genética , Criança , Pré-Escolar , Estudos de Coortes , Proteínas do Citoesqueleto/genética , Análise Mutacional de DNA , Doenças em Gêmeos/diagnóstico , Tecnologia de Rastreamento Ocular , Feminino , Variação Genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Proteínas de Membrana/genética , Proteínas de Membrana Transportadoras/genética , Monofenol Mono-Oxigenase/genética , Mutação , Nistagmo Patológico/diagnóstico , Linhagem , Tomografia de Coerência Óptica , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genéticaRESUMO
INTRODUCTION: Repetitive magnetic stimulation (rMS) is a safe and well-tolerated intervention. Transcranial magnetic stimulation (TMS) is used for the treatment of depression and for the treatment and prevention of migraine. Over the last few years, several reports and randomised controlled studies of the use of rMS for the treatment of pain have been published. The aim of this systematic review was to identify the available literature regarding the use of rMS in the treatment of peripheral neuropathic pain. METHODS: After a systematic Medline search we identified 12 papers eligible to be included in this review. RESULTS: The majority of the studies were on patients with phantom limb pain, followed by radiculopathy, plexopathy, post-traumatic pain and peripheral neuropathy. The treatment protocols vary significantly from study to study and, therefore, pooling the results together is currently difficult. However, rMS has a definite immediate effect in pain relief which, in the majority of studies, is maintained for a few weeks. CONCLUSION: rMS seems to be a promising intervention in the treatment of peripheral neuropathic pain. Further research is in the field is needed. Use of neuronavigation might increase the precision of stimulation and subsequently its effectiveness.