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1.
Cost Eff Resour Alloc ; 22(1): 49, 2024 May 29.
Artigo em Inglês | MEDLINE | ID: mdl-38811931

RESUMO

BACKGROUND: The joint evidence of the cost and the effectiveness of family-based therapies is modest. OBJECTIVE: To study the cost-effectiveness of family therapy (FT) versus treatment-as-usual (TAU) for young people seen after self-harm combining data from an 18-month trial and hospital records up to 60-month from randomisation. METHODS: We estimate the cost-effectiveness of FT compared to TAU over 5 years using a quasi-Markov state model based on self-harm hospitalisations where probabilities of belonging in a state are directly estimated from hospital data. The primary outcome is quality-adjusted life years (QALY). Cost perspective is NHS and PSS and includes treatment costs, health care use, and hospital attendances whether it is for self-harm or not. Incremental cost-effectiveness ratios are calculated and deterministic and probabilistic sensitivity analyses are conducted. RESULTS: Both trial arms show a significant decrease in hospitalisations over the 60-month follow-up. In the base case scenario, FT participants incur higher costs (mean +£1,693) and negative incremental QALYs (-0.01) than TAU patients. The associated ICER at 5 years is dominated and the incremental health benefit at the £30,000 per QALY threshold is -0.067. Probabilistic Sensitivity Analysis finds the probability that FT is cost-effective is around 3 - 2% up to a maximum willingness to pay of £50,000 per QALY. This suggest that the extension of the data to 60 months show no difference in effectiveness between treatments. CONCLUSION: Whilst extended trial follow-up from routinely collected statistics is useful to improve the modelling of longer-term cost-effectiveness, FT is not cost-effective relative to TAU and dominated in a cost-utility analysis.

2.
J Adolesc ; 96(2): 337-349, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38013246

RESUMO

INTRODUCTION: The INSCHOOL project aimed to understand the school experiences and unmet needs of young people across a diversity of long-term physical health conditions. METHODS: Young people aged 11-18 years, in mainstream secondary school in the United Kingdom, with one of 11 physical health conditions were invited to unique participant-driven interviews, focus groups, or written activities. Creative preparation activities were provided to give participants increased control over the data collection and prioritize their voices. A needs analysis, in combination with participatory analysis sessions with young people, identified the common needs of participants in relation to their school lives. RESULTS: Eighty-nine young people participated from April 2022 to 2023. Analysis of their transcripts defined six common needs across all the health conditions: Need to safely manage my health at school; need for a flexible education pathway; need to be acknowledged and listened to in the right way; need to be included in and supported by the school community; need to build toward my future; need to develop attitudes and approaches to help me cope in school. CONCLUSIONS: This study has generated new, actionable knowledge by identifying six major needs that young people have in relation to the intersection of their health condition and their school life. This paper shows that a commonalities approach to research and policy development is warranted given the similarities in experiences and needs. The common needs identified in the INSCHOOL project highlight six areas where future interventions could be targeted to begin making meaningful changes for all young people with long-term health conditions.


Assuntos
Instituições Acadêmicas , Humanos , Adolescente , Pesquisa Qualitativa , Reino Unido
3.
Eur Child Adolesc Psychiatry ; 31(1): 177-187, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33330952

RESUMO

The peer influence and peer selection effects are two widely replicated findings in the criminological literature that refer to the predictive relationship between antisocial behaviour and delinquent peer association as well as between delinquent peer association and antisocial behaviour, respectively. Research suggests that antisocial cognition might constitute a causal mechanism underlying part of these effects. This study investigated the extent that the peer influence and peer selection effects are mediated by one key aspect of antisocial cognition-beliefs and attitudes supporting peer conflict. This study examined whether beliefs and attitudes supporting peer conflict mediated the relationship between delinquent peer association and volume of self-reported antisocial behaviour and vice-versa, across a 1-year follow-up period, in 683 (433 male, 250 female) British adolescents (mean age: 13.8 years) with a history of serious antisocial behaviour. Participants completed measures at baseline and 6, 12 and 18 months thereafter. Findings indicated that beliefs and attitudes supporting peer conflict partially mediated the peer influence and peer selection effects, explaining a substantial proportion of the total effect in the peer influence (i.e., 26%) and peer selection (i.e., 17%) models. These results suggest that beliefs and attitudes supporting peer conflict could explain part of the mechanism underlying the peer influence and peer selection effects in adolescents with a history of serious antisocial behaviour.


Assuntos
Comportamento do Adolescente , Transtorno da Personalidade Antissocial , Adolescente , Cognição , Feminino , Humanos , Masculino , Grupo Associado , Influência dos Pares
4.
Lancet ; 390(10094): 577-587, 2017 08 05.
Artigo em Inglês | MEDLINE | ID: mdl-28552365

RESUMO

BACKGROUND: Emergency hospital admission with adversity-related injury (ie, self-inflicted, drug-related or alcohol-related, or violent injury) affects 4% of 10-19-year-olds. Their risk of death in the decade after hospital discharge is twice as high as that of adolescents admitted to hospitals for accident-related injury. We established how cause of death varied between these groups. METHODS: We did a retrospective, nationwide, cohort study comparing risks of death in five causal groups (suicide, drug-related or alcohol-related, homicide, accidental, and other causes of death) up to 10 years after hospital discharge following adversity-related (self-inflicted, drug-related or alcohol-related, or violent injury) or accident-related (for which there was no recorded adversity) injury. We included adolescents (aged 10-19 years) who were admitted as an emergency for adversity-related or accident-related injury between April 1, 1997, and March 31, 2012. We excluded adolescents who did not have their sex recorded, died during the index admission, had no valid discharge date, or were admitted with injury related to neither adversity nor accidents. We identified admissions for adversity-related or accident-related injury to the National Health Service in England with the International Classification of Diseases-10 codes in Hospital Episode Statistics data, linked to the Office for National Statistics mortality data for England, to establish cause-specific risks of death between the first day and 10 years after discharge, and to compare risks between adversity-related and accident-related index injury after adjustment for age group, socioeconomic status, and chronic conditions. FINDINGS: We identified 1 080 368 adolescents (388 937 [36·0%] girls, 690 546 [63·9%] boys, and 885 [0·1%] adolescents who did not have their sex recorded). Of these adolescents, we excluded 40 549 (10·4%) girls, 56 107 (8·1%) boys, and all 885 without their sex recorded. Of the 333 009 (30·8%) adolescents admitted with adversity-related injury (181 926 [54·6%] girls and 151 083 [45·4%] boys) and 649 818 (60·2%) admitted with accident-related injury (166 462 [25·6%] girls and 483 356 [74·4%] boys), 4782 (0·5%) died in the 10 years after discharge (1312 [27·4%] girls and 3470 [72·6%] boys). Adolescents discharged after adversity-related injury had higher risks of suicide (adjusted subhazard ratio 4·54 [95% CI 3·25-6·36] for girls, and 3·15 [2·73-3·63] for boys) and of drug-related or alcohol-related death (4·71 [3·28-6·76] for girls, and 3·53 [3·04-4·09] for boys) in the next decade than they did after accident-related injury. Although we included homicides in our estimates of 10-year risks of adversity-related deaths, we did not explicitly present these risks because of small numbers and risks of statistical disclosure. There was insufficient evidence that girls discharged after adversity-related injury had increased risks of accidental deaths compared with those discharged after accident-related injury (adjusted subhazard ratio 1·21 [95% CI 0·90-1·63]), but there was evidence that this risk was increased for boys (1·26 [1·09-1·47]). There was evidence of decreased risks of other causes of death in girls (0·64 [0·53-0·77]), but not in boys (0·99 [0·84-1·17]). Risks of suicide were increased following self-inflicted injury (adjusted subhazard ratio 5·11 [95% CI 3·61-7·23] for girls, and 6·20 [5·27-7·30] for boys), drug-related or alcohol-related injury (4·55 [3·23-6·39] for girls, and 4·51 [3·89-5·24] for boys), and violent injury in boys (1·43 [1·15-1·78]) versus accident-related injury. However, the increased risk of suicide in girls following violent injury versus accident-related injury was not significantly increased (adjusted subhazard ratio 1·48 [95% CI 0·73-2·98]). Following each type of index injury, risks of suicide and risks of drug-related or alcohol-related death were increased by similar magnitudes. INTERPRETATION: Risks of suicide were significantly increased after all types of adversity-related injury except for girls who had violent injury. Risks of drug-related or alcohol-related death increased by a similar magnitude. Current practice to reduce risks of harm after self-inflicted injury should be extended to drug-related or alcohol-related and violent injury in adolescence. Prevention should address the substantial risks of drug-related or alcohol-related death alongside risks of suicide. FUNDING: UK Department of Health.


Assuntos
Hospitalização/estatística & dados numéricos , Comportamento Autodestrutivo/mortalidade , Transtornos Relacionados ao Uso de Substâncias/mortalidade , Violência/estatística & dados numéricos , Ferimentos e Lesões/mortalidade , Acidentes/estatística & dados numéricos , Adolescente , Transtornos Relacionados ao Uso de Álcool/mortalidade , Causas de Morte , Criança , Estudos de Coortes , Inglaterra/epidemiologia , Feminino , Humanos , Masculino , Estudos Retrospectivos , Medição de Risco/métodos , Suicídio/estatística & dados numéricos , Análise de Sobrevida , Adulto Jovem
5.
BMC Neurol ; 18(1): 107, 2018 Aug 06.
Artigo em Inglês | MEDLINE | ID: mdl-30081859

RESUMO

BACKGROUND: Nocturia is a common urinary symptom of multiple sclerosis (MS) which can affect quality of life (QoL) adversely. Melatonin is a hormone known to regulate circadian rhythm and reduce smooth muscle activity such as in the bladder. There is limited evidence supporting use of melatonin to alleviate urinary frequency at night in the treatment of nocturia. The aim of this study was to evaluate the effect of melatonin on the mean number of nocturia episodes per night in patients with MS. METHODS: A randomized, double blind, placebo controlled crossover trial was conducted. 34 patients with nocturia secondary to multiple sclerosis underwent a 4-day pre-treatment monitoring phase. The patients were randomized to receive either 2 mg per night (taken at bedtime) of capsulated sustained-release melatonin (Circadin®) or 1 placebo capsule for 6 weeks followed by a crossover to the other regimen for an additional 6 weeks after a 1-month washout period. RESULTS: From the 26 patients who completed the study, there was no significant difference observed in the signs or symptoms of nocturia when taking 2 mg melatonin compared to placebo. The primary outcome measure, mean number of nocturia episodes on bladder diaries, was 1.8/night at baseline, and 1.4/night on melatonin, compared with 1.6 for placebo (Medians 1.70, 1.50, and 1.30 respectively, p = 0.85). There was also no significant difference seen in LUTS, QoL and sleep quality when taking melatonin. No significant safety concerns arose. CONCLUSIONS: This small study suggests that a low dose of melatonin taken at bedtime may be ineffective therapy for nocturia in MS. TRIAL REGISTRATION: (EudraCT reference) 2012-00418321 registered: 25/01/13. ISRCTN Registry: ISRCTN38687869 .


Assuntos
Melatonina/uso terapêutico , Esclerose Múltipla/tratamento farmacológico , Noctúria/tratamento farmacológico , Adulto , Idoso , Estudos Cross-Over , Método Duplo-Cego , Feminino , Humanos , Masculino , Melatonina/administração & dosagem , Pessoa de Meia-Idade , Esclerose Múltipla/complicações , Noctúria/complicações
6.
Clin Trials ; 15(2): 197-206, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29498542

RESUMO

BACKGROUND: Use of routine data sources within clinical research is increasing and is endorsed by the National Institute for Health Research to increase trial efficiencies; however there is limited evidence for its use in clinical trials, especially in relation to self-harm. One source of routine data, Hospital Episode Statistics, is collated and distributed by NHS Digital and contains details of admissions, outpatient, and Accident and Emergency attendances provided periodically by English National Health Service hospitals. We explored the reliability and accuracy of Hospital Episode Statistics, compared to data collected directly from hospital records, to assess whether it would provide complete, accurate, and reliable means of acquiring hospital attendances for self-harm - the primary outcome for the SHIFT (Self-Harm Intervention: Family Therapy) trial evaluating Family Therapy for adolescents following self-harm. METHODS: Participant identifiers were linked to Hospital Episode Statistics Accident and Emergency, and Admissions data, and episodes combined to describe participants' complete hospital attendance. Attendance data were initially compared to data previously gathered by trial researchers from pre-identified hospitals. Final comparison was conducted of subsequent attendances collected through Hospital Episode Statistics and researcher follow-up. Consideration was given to linkage rates; number and proportion of attendances retrieved; reliability of Accident and Emergency, and Admissions data; percentage of self-harm episodes recorded and coded appropriately; and percentage of required data items retrieved. RESULTS: Participants were first linked to Hospital Episode Statistics with an acceptable match rate of 95%, identifying a total of 341 complete hospital attendances, compared to 139 reported by the researchers at the time. More than double the proportion of Hospital Episode Statistics Accident and Emergency episodes could not be classified in relation to self-harm (75%) compared to 34.9% of admitted episodes, and of overall attendances, 18% were classified as self-harm related and 20% not related, while ambiguity or insufficient information meant 62% were unclassified. Of 39 self-harm-related attendances reported by the researchers, Hospital Episode Statistics identified 24 (62%) as self-harm related while 15 (38%) were unclassified. Based on final data received, 1490 complete hospital attendances were identified and comparison to researcher follow-up found Hospital Episode Statistics underestimated the number of self-harm attendances by 37.2% (95% confidence interval 32.6%-41.9%). CONCLUSION: Advantages of routine data collection via NHS Digital included the acquisition of more comprehensive and timely trial outcome data, identifying more than double the number of hospital attendances than researchers. Disadvantages included ambiguity in the classification of self-harm relatedness. Our resulting primary outcome data collection strategy used routine data to identify hospital attendances supplemented by targeted researcher data collection for attendances requiring further self-harm classification.


Assuntos
Confiabilidade dos Dados , Registros Eletrônicos de Saúde/estatística & dados numéricos , Hospitalização/estatística & dados numéricos , Adolescente , Ensaios Clínicos Fase III como Assunto , Terapia Familiar/estatística & dados numéricos , Humanos , Comportamento Autodestrutivo/terapia , Medicina Estatal
7.
J Child Adolesc Ment Health ; 30(3): 167-182, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30428772

RESUMO

BACKGROUND: Parenting programmes are recommended for conduct disorders in 5-11 year olds, but ineffective for 25-33%. A feasibility trial was needed to determine whether a confirmatory trial of second-line, manualised short-term psychoanalytic child psychotherapy (mPCP) versus treatment as usual (TaU) is practicable. METHOD: This was a two-arm, pragmatic, parallel-group, multi-centre, individually-randomised controlled feasibility trial with blinded outcome assessment. Child-primary carer dyads were recruited from National Health Service Child and Adolescent Mental Health Services and mPCP delivered by routine child psychotherapists. RESULTS: Thirty-two dyads (50% of eligible, 95% CI 37 to 63%) were recruited, with 16 randomised to each arm. Eleven (69%) completed ≥50% of 12 week mPCP and 13 (81%) . Follow-up was obtained for 24 (75%) at 4 months and 14/16 (88%) at 8 months. Teacher follow-up was 16 (50%) ≥1 session. Manual adherence was good. Baseline candidate primary outcomes were 37.4 (SD 11.4) and 18.1 (SD 15.7) on the Child Behaviour Checklist/Teacher Report Form externalising scale and 102.8 (SD 28.4) and 58.8 (SD 38.9) on the total score. Health economics data collection was feasible and the trial acceptable to participants. CONCLUSION: Recruitment, teacher follow-up and the manual need some refinement. A confirmatory trial is feasible, subject to funding of research child psychotherapists.


Assuntos
Transtorno da Conduta/terapia , Terapia Familiar/métodos , Avaliação de Resultados em Cuidados de Saúde , Terapia Psicanalítica/métodos , Adulto , Criança , Pré-Escolar , Estudos de Viabilidade , Feminino , Seguimentos , Humanos , Masculino , Pais , Método Simples-Cego
8.
Arch Dis Child Educ Pract Ed ; 101(3): 114-8, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26837501

RESUMO

Medically unexplained symptoms are common and not always easy to manage. A wide range of symptoms may be presented and anxiety in the child, family and paediatrician about the possibility of a missed serious organic diagnosis may hamper effective management. Evidence-based approaches to a number of different presenting problems share a number of components. A model for assessment and management based on clinical experience and this evidence base is described.


Assuntos
Medicina Baseada em Evidências/normas , Sintomas Inexplicáveis , Pediatria/normas , Guias de Prática Clínica como Assunto , Transtornos Somatoformes/diagnóstico , Transtornos Somatoformes/terapia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino
9.
Artigo em Inglês | MEDLINE | ID: mdl-26158300

RESUMO

When the bovine spongiform encephalopathy (BSE) epidemic first emerged in the United Kingdom in the mid 1980s, the etiology of animal prion diseases was largely unknown. Risk management efforts to control the disease were also subject to uncertainties regarding the extent of BSE infections and future course of the epidemic. As understanding of BSE increased, mathematical models were developed to estimate risk of BSE infection and to predict reductions in risk in response to BSE control measures. Risk models of BSE-transmission dynamics determined disease persistence in cattle herds and relative infectivity of cattle prior to onset of clinical disease. These BSE models helped in understanding key epidemiological features of BSE transmission and dynamics, such as incubation period distribution and age-dependent infection susceptibility to infection with the BSE agent. This review summarizes different mathematical models and methods that have been used to estimate risk of BSE, and discusses how such risk projection models have informed risk assessment and management of BSE. This review also provides some general insights on how mathematical models of the type discussed here may be used to estimate risks of emerging zoonotic diseases when biological data on transmission of the etiological agent are limited.


Assuntos
Encefalopatia Espongiforme Bovina/prevenção & controle , Modelos Teóricos , Medição de Risco/métodos , Animais , Bovinos , Suscetibilidade a Doenças , Encefalopatia Espongiforme Bovina/epidemiologia , Encefalopatia Espongiforme Bovina/transmissão , Humanos , Gestão de Riscos/métodos , Reino Unido
10.
Proc Natl Acad Sci U S A ; 109(25): 9699-704, 2012 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-22660929

RESUMO

A challenge to both understanding and modeling biochemical networks is integrating the effects of diffusion and stochasticity. Here, we use the theory of branching processes to give exact analytical expressions for the mean and variance of protein numbers as a function of time and position in a spatial version of an established model of gene expression. We show that both the mean and the magnitude of fluctuations are determined by the protein's Kuramoto length--the typical distance a protein diffuses over its lifetime--and find that the covariance between local concentrations of proteins often increases if there are substantial bursts of synthesis during translation. Using high-throughput data, we estimate that the Kuramoto length of cytoplasmic proteins in budding yeast to be an order of magnitude larger than the cell diameter, implying that many such proteins should have an approximately uniform concentration. For constitutively expressed proteins that live substantially longer than their mRNA, we give an exact expression for the deviation of their local fluctuations from Poisson fluctuations. If the Kuramoto length of mRNA is sufficiently small, we predict that such local fluctuations become approximately Poisson in bacteria in much of the cell, unless translational bursting is exceptionally strong. Our results therefore demonstrate that diffusion can act to both increase and decrease the complexity of fluctuations in biochemical networks.


Assuntos
Expressão Gênica , Modelos Teóricos , Processos Estocásticos , Proteínas/genética , Proteínas/metabolismo
11.
J Neurosci ; 33(10): 4536-9, 2013 Mar 06.
Artigo em Inglês | MEDLINE | ID: mdl-23467369

RESUMO

The influences of axon diameter, myelin thickness, and internodal length on the velocity of conduction of peripheral nerve action potentials are unclear. Previous studies have demonstrated a strong dependence of conduction velocity on internodal length. However, a theoretical analysis has suggested that this relationship may be lost above a nodal separation of ∼0.6 mm. Here we measured nerve conduction velocities in a rabbit model of limb lengthening that produced compensatory increases in peripheral nerve growth. Divided tibial bones in one hindlimb were gradually lengthened at 0.7 mm per day using an external frame attached to the bone. This was associated with a significant increase (33%) of internodal length (0.95-1.3 mm) in axons of the tibial nerve that varied in proportion to the mechanical strain in the nerve of the lengthened limb. Axonal diameter, myelin thickness, and g-ratios were not significantly altered by limb lengthening. Despite the substantial increase in internodal length, no significant change was detected in conduction velocity (∼43 m/s) measured either in vivo or in isolated tibial nerves. The results demonstrate that the internode remains plastic in the adult but that increases in internodal length of myelinated adult nerve axons do not result in either deficiency or proportionate increases in their conduction velocity and support the view that the internodal lengths of nerves reach a plateau beyond which their conduction velocities are no longer sensitive to increases in internodal length.


Assuntos
Potenciais de Ação/fisiologia , Membro Posterior/fisiologia , Condução Nervosa/fisiologia , Nós Neurofibrosos/fisiologia , Nervo Tibial/fisiologia , Animais , Estimulação Elétrica , Membro Posterior/inervação , Técnicas In Vitro , Masculino , Microscopia Eletrônica de Transmissão , Fibras Nervosas Mielinizadas/fisiologia , Coelhos , Nós Neurofibrosos/ultraestrutura , Tempo de Reação/fisiologia , Nervo Tibial/ultraestrutura
12.
Prehosp Disaster Med ; 39(2): 170-177, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38563276

RESUMO

INTRODUCTION: Music festivals have become an increasingly popular form of mass-gathering event, drawing an increasing number of attendees across the world each year. While festivals exist to provide guests with an enjoyable experience, there have been instances of serious illness, injury, and in some cases death. Large crowds, prolonged exposure to loud music, and high rates of drug and alcohol consumption can pose a dangerous environment for guests as well as those looking after them. METHODS: A retrospective review of electronic patient records (EPRs) at the 2022 Glastonbury Festival was undertaken. All patients who attended medical services on-site during the festival and immediately after were included. Patient demographics, diagnosis, treatment received, and discharge destination were obtained and analyzed. RESULTS: A total of 2,828 patients received on-site medical care. The patient presentation rate (PPR) was 13.47 and the transport-to-hospital rate (TTHR) was 0.30 per 1,000 guests. The most common diagnoses were joint injuries, gastrointestinal conditions, and blisters. Only 164 patients (5.48%) were diagnosed as being intoxicated. Overall, 552 patients (19.52%) were prescribed a medication to take away and 268 (9.48%) had a dressing for a minor wound. One patient (0.04%) underwent a general anesthetic and no patients required cardiopulmonary resuscitation. Most patients were discharged back to the festival site (2,563; 90.66%). DISCUSSION: Minor conditions were responsible for many presentations and most patients only required mild or non-invasive interventions, after which they could be safely discharged back to the festival. Older adults were diagnosed with a different frequency of conditions compared to the overall study population, something not reported previously. Intoxicated patients only accounted for a very small amount of the medical workload.


Assuntos
Férias e Feriados , Música , Humanos , Estudos Retrospectivos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Adolescente , Adulto Jovem , Aglomeração , Serviços Médicos de Emergência , Criança , Idoso de 80 Anos ou mais , Pré-Escolar
13.
Hum Mutat ; 34(8): 1111-8, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23606453

RESUMO

Limb girdle muscular dystrophy type 2L or anoctaminopathy is a condition mainly characterized by adult onset proximal lower limb muscular weakness and raised CK values, due to recessive ANO5 gene mutations. An exon 5 founder mutation (c.191dupA) has been identified in most of the British and German LGMD2L patients so far reported. We aimed to further investigate the prevalence and spectrum of ANO5 gene mutations and related clinical phenotypes, by screening 205 undiagnosed patients referred to our molecular service with a clinical suspicion of anoctaminopathy. A total of 42 unrelated patients had two ANO5 mutations (21%), whereas 14 carried a single change. We identified 34 pathogenic changes, 15 of which are novel. The c.191dupA mutation represents 61% of mutated alleles and appears to be less prevalent in non-Northern European populations. Retrospective clinical analysis corroborates the prevalently proximal lower limb phenotype, the male predominance and absence of major cardiac or respiratory involvement. Identification of cases with isolated hyperCKaemia and very late symptomatic male and female subjects confirms the extension of the phenotypic spectrum of the disease. Anoctaminopathy appears to be one of the most common adult muscular dystrophies in Northern Europe, with a prevalence of about 20%-25% in unselected undiagnosed cases.


Assuntos
Canais de Cloreto/genética , Distrofia Muscular do Cíngulo dos Membros/genética , Mutação , Adulto , Idoso , Anoctaminas , Canais de Cloreto/metabolismo , Europa (Continente)/epidemiologia , Feminino , Variação Genética , Humanos , Masculino , Pessoa de Meia-Idade , Distrofia Muscular do Cíngulo dos Membros/epidemiologia , Distrofia Muscular do Cíngulo dos Membros/metabolismo , Fenótipo , Prevalência , Estudos Retrospectivos , Fatores Sexuais
14.
J Neurol Neurosurg Psychiatry ; 84(10): 1100-6, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23418213

RESUMO

Primary progressive multiple sclerosis (MS) has long been recognised as presenting great difficulties to our management of what is increasingly a treatable neurological disease. Here we review some basic and clinical aspects of primary progressive MS, and describe how the disorder in fact offers powerful insights and opportunities for better understanding multiple sclerosis, and from a practical perspective an invaluable clinical substrate for studying and treating progressive disability in MS. Difficult hurdles remain, however, and these too are reviewed.


Assuntos
Esclerose Múltipla Crônica Progressiva/terapia , Encéfalo/patologia , Diagnóstico Diferencial , Avaliação da Deficiência , Previsões , Humanos , Imageamento por Ressonância Magnética , Esclerose Múltipla Crônica Progressiva/diagnóstico , Esclerose Múltipla Crônica Progressiva/patologia , Esclerose Múltipla Recidivante-Remitente/diagnóstico , Esclerose Múltipla Recidivante-Remitente/patologia , Esclerose Múltipla Recidivante-Remitente/terapia , Fatores de Crescimento Neural/uso terapêutico , Valor Preditivo dos Testes , Prognóstico , Transplante de Células-Tronco
15.
Res Involv Engagem ; 9(1): 91, 2023 Oct 12.
Artigo em Inglês | MEDLINE | ID: mdl-37828630

RESUMO

BACKGROUND: Evidence suggests resources and services benefit from being developed in collaboration with the young people they aim to support. Despite this, patient and public involvement and engagement (PPIE) with young people is often tokenistic, limited in engagement and not developmentally tailored to young people. Our paper aims to build knowledge and practice for meaningfully engaging with young people in research design, analysis and as research participants. METHODS: We report the participatory processes from the INSCHOOL project, examining long-term health conditions and schooling among 11-18 year olds. Young people were consulted at the inception of the project through a hospital-based youth forum. This began a partnership where young people co-designed study documents, informed the recruitment process, developed creative approaches to data collection, participated in pilot interviews, co-analysed the qualitative data and co-presented results. RESULTS: PPIE advisors, participants and researchers all benefitted from consistent involvement of young people throughout the project. Long-term engagement allowed advisors and researchers to build rapport and facilitated openness in sharing perspectives. PPIE advisors valued being able to shape the initial aims and language of the research questions, and contribute to every subsequent stage of the project. Advisors co-designed flexible data collection methods for the qualitative project that provided participants with choices in how they took part (interviews, focus groups, written tasks). Further choice was offered through co-designed preparation activities where participants completed one of four creative activities prior to the interview. Participants were therefore able to have control over how they participated and how they described their school experiences. Through participatory analysis meetings advisors used their first-hand experiences to inform the creation of themes and the language used to describe these themes. PPIE in every stage of the process helped researchers to keep the results grounded in young people's experience and challenge their assumptions as adults. CONCLUSIONS: Young people have much to offer and the INSCHOOL project has shown that researchers can meaningfully involve young people in all aspects of research. Consistent PPIE resulted in a project where the voices of young people were prioritised throughout and power imbalances were reduced, leading to meaningful participant-centred data.


BACKGROUND: Young people's voices are often overlooked in research about long-term health conditions, but evidence suggests involving young people improves research quality, usefulness and impact. Despite the benefits, young people are not involved in research as often or as well as they could be. METHODS: Young people were consulted during the early planning of the INSCHOOL project and began a long-term co-production partnership. Through a series of meetings, young advisors helped to design project methods, took part in pilot interviews, analysed interview data, and presented results. Co-designed activities helped participants prepare for their interviews, which was a key part in helping participants tell their own stories. RESULTS: Having young advisors throughout the research added significant value to the project design and helped the results remain grounded in young people's experiences. The co-designed methods gave participants time to prepare for interviews, which allowed them to feel more comfortable and in control of the interview process. This reduced the amount of influence the researchers had over the content of the interviews and gave young people an opportunity to describe experiences of school life that were meaningful to them. PPIE advisors, participants and researchers all benefitted from consistent involvement of young people throughout the project. Long-term engagement allowed advisors and researchers to build rapport and facilitated openness in sharing perspectives. CONCLUSIONS: Researchers should aim to engage with young people at an early stage of research to develop partnerships that allow them to shape the direction and content of the research, and how the information is analysed and presented. Co-designing methods that offer flexibility and make it easy for young people to have more control over the research process can lead to more meaningful and valuable results.

16.
Arch Dis Child ; 108(3): 225-229, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36460338

RESUMO

OBJECTIVE: Assess the existing evidence base in order to synthesise the current qualitative findings for the impact of chronic health conditions on the school lives of young people. DESIGN: Qualitative evidence synthesis using thematic synthesis. PATIENTS: Young people aged 11-18 years with a chronic health condition from one of the following groups: oncology, cystic fibrosis, diabetes, asthma, rheumatology, neuromuscular, colorectal, chronic pain, allergies and dermatology. OUTCOME MEASURE: Qualitative findings and discussions present in included studies formed the data for the thematic synthesis. RESULTS: From a search identifying 19 311 records, a sample of 35 papers were included. The included papers represented 15 countries and primarily employed interviews as part of data collection. Thematic synthesis resulted in six themes: 'keeping up/catching up/missing out/looking forward'; 'identity'; 'relationship with peers'; 'normality and difference'; 'autonomy'; 'relationships with staff'. CONCLUSIONS: Thematic synthesis highlighted the commonalities, rather than divergence, of issues for young people across different chronic conditions. Policies need to be based on the experiences of the people they aim to provide for, and while attendance and attainment remain important, there is clearly more that needs to be considered when gathering data, designing interventions and developing policies to support this population. It may also be advisable for clinical professionals to include the broader psychosocial aspects of school life in discussions and plans to support young people with long-term conditions. PROSPERO REGISTRATION NUMBER: CRD42021278153.


Assuntos
Dor Crônica , Estudantes , Humanos , Adolescente , Pesquisa Qualitativa , Instituições Acadêmicas , Doença Crônica
17.
Neuroimage ; 62(3): 1334-41, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22658974

RESUMO

Selective attention and multisensory integration are fundamental to perception, but little is known about whether, or under what circumstances, these processes interact to shape conscious awareness. Here, we used transcranial magnetic stimulation (TMS) to investigate the causal role of attention-related brain networks in multisensory integration between visual and auditory stimuli in the sound-induced flash illusion. The flash illusion is a widely studied multisensory phenomenon in which a single flash of light is falsely perceived as multiple flashes in the presence of irrelevant sounds. We investigated the hypothesis that extrastriate regions involved in selective attention, specifically within the right parietal cortex, exert an influence on the multisensory integrative processes that cause the flash illusion. We found that disruption of the right angular gyrus, but not of the adjacent supramarginal gyrus or of a sensory control site, enhanced participants' veridical perception of the multisensory events, thereby reducing their susceptibility to the illusion. Our findings suggest that the same parietal networks that normally act to enhance perception of attended events also play a role in the binding of auditory and visual stimuli in the sound-induced flash illusion.


Assuntos
Atenção/fisiologia , Percepção Auditiva/fisiologia , Ilusões/fisiologia , Lobo Parietal/fisiologia , Percepção Visual/fisiologia , Estimulação Acústica , Feminino , Humanos , Masculino , Estimulação Luminosa , Estimulação Magnética Transcraniana
19.
Res Psychother ; 25(1)2022 May 09.
Artigo em Inglês | MEDLINE | ID: mdl-35532026

RESUMO

There is a debate in the health outcomes literature regarding who the most appropriate respondent is when assessing children's health-related quality of life (HRQoL). In some cases, parent-proxy may be the only practical option where children are unable to self-complete an HRQoL questionnaire. However, children's self-reported values may be preferable because HRQoL is subjective and represents the respondent own perception of health. We collected the youth version of the EQ-5D-3L as part of a feasibility study comparing psychoanalytic child psychotherapy with usual care for children aged 5-11 years with treatment resistant conduct disorders. The questionnaires were completed at baseline and 4-month follow-up by the child via face-to-face researcher administration, and by one parent as a proxy respondent. We present percentages of completion at each time-point and investigate the level of agreement between child and proxy-respondent on the child's health. About two thirds of children (65.5%) were able to complete the EQ-5D-Y at baseline and 34.4% at follow-up. Children and primary carers were mostly concordant regarding overall child's health. Parents reported more problems in 'doing usual activities' and 'feeling worried, sad or unhappy' and fewer problems with 'pain' and 'looking after oneself' than children did. The reports regarding 'mobility' were very similar between children and proxy-respondents. The assessment of quality of life by children using selfreport questionnaires is possible with the help of a face-to-face researcher, providing evidence that children should be asked to self-complete HRQoL questionnaires in trial studies.

20.
J Mass Dent Soc ; 59(4): 20-2, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21446616

RESUMO

Implant therapy has become a very predictable treatment option in the general population; however, there are certain factors that increase the risk of implant failure. The 2008 National Health Interview Survey estimates that 24.8 million men and 21.1 million women are smokers. The literature regarding cigarette smoking and dental implants currently suggests that advising the patient to stop smoking completely is best, but if this approach is not tenable, then the patient should be warned of the increased risk of implant failure and postoperative complications.


Assuntos
Implantação Dentária Endóssea , Falha de Restauração Dentária , Peri-Implantite/etiologia , Fumar/efeitos adversos , Consenso , Contraindicações , Implantes Dentários , Feminino , Humanos , Masculino , Periodontite/etiologia
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