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1.
J Intellect Disabil Res ; 68(3): 285-292, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37916390

RESUMEN

BACKGROUND: Speech and language skills are important for social interaction and learning. This study characterised the communication abilities of verbal individuals with SOX11 syndrome using a standardised parent/carer questionnaire, the Children's Communication Checklist (CCC-2). METHOD: Thirteen parent/carers of verbal individuals (aged 5-19 years) diagnosed with SOX11 syndrome completed the CCC-2. In order to contextualise findings, responses were compared to norms and to data from Noonan syndrome, a relatively well-known genetic diagnosis associated with communication impairment. RESULTS: For all individuals, the CCC-2 composite score indicated significant communication difficulties. Language structure (speech, syntax, semantics and coherence), pragmatic language (inappropriate initiation, stereotyped language use of context and non-verbal communication) and autistic features (social relations and interests) scores were lower than typically developing norms. Subscale comparisons revealed relative difference in use of context compared to other pragmatic domains (stereotyped language and inappropriate initiation). Individual scores showed substantial variation, particularly in regard to language structure profile. Differences were more pronounced than for Noonan syndrome, specifically in domains of speech, syntax, non-verbal communication and social relations. CONCLUSIONS: SOX11 syndrome is associated with communication impairment. It is important to assess communication abilities as part of the management of individuals with SOX11 syndrome and understand individual strengths and difficulties in order to provide targeted support.


Asunto(s)
Trastornos de la Comunicación , Trastornos del Desarrollo del Lenguaje , Síndrome de Noonan , Niño , Humanos , Trastornos del Desarrollo del Lenguaje/diagnóstico , Pruebas del Lenguaje , Trastornos de la Comunicación/etiología , Trastornos de la Comunicación/diagnóstico , Lenguaje , Factores de Transcripción SOXC
2.
Ann R Coll Surg Engl ; 2023 Feb 07.
Artículo en Inglés | MEDLINE | ID: mdl-36748792

RESUMEN

This case report aims to encourage teams to readjust the operating table during prolonged robotic cases, especially in those patients with a high body mass index. We present the case of a 59-year-old male who developed neuropathic pain involving the suprascapular nerve distribution following a prolonged robotic-assisted radical prostatectomy.

3.
Oecologia ; 197(3): 589-598, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34570279

RESUMEN

Low temperature in winter depresses rates of photosynthesis, which, in evergreen plants, can exacerbate imbalances between light absorption and photochemical light use. Damage that could result from increased excess light absorption is minimized by the conversion of excitation energy to heat in a process known as energy dissipation, which involves the de-epoxidized carotenoids of the xanthophyll cycle. Overwintering evergreens employ sustained forms of energy dissipation observable even after lengthy periods of dark acclimation. Whereas most studies of photoprotective energy dissipation examine one or a small number of species; here, we measured the levels of sustained thermal energy dissipation of seventy conifer taxa growing outdoors under common-garden conditions at the Red Butte Garden in Salt Lake City, Utah, U.S.A. (forty nine taxa were also sampled for needle pigment content). We observed an extremely wide range of wintertime engagement of sustained energy dissipation; the percentage decrease in dark-acclimated photosystem II quantum efficiency from summer to winter ranged from 6 to 95%. Of the many pigment-based parameters measured, the magnitude of the seasonal decrease in quantum efficiency was most closely associated with the seasonal increase in zeaxanthin content expressed on a total chlorophyll basis, which explained only slightly more than one-third of the variation. We did not find evidence for a consistent wintertime decrease in needle chlorophyll content. Thus, the prevailing mechanism for winter decreases in solar-induced fluorescence emitted by evergreen forests may be decreases in fluorescence quantum yield, and wintertime deployment of sustained energy dissipation likely underlies this effect.


Asunto(s)
Tracheophyta , Clorofila , Fotosíntesis , Complejo de Proteína del Fotosistema II/metabolismo , Estaciones del Año , Tracheophyta/metabolismo
5.
J Surg Educ ; 76(2): 591-599, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30249515

RESUMEN

OBJECTIVE: To investigate the impact of decade-long dedicated laparoscopic urology surgical skills course on the successful implementation of surgical services by the participants. METHODS: A prospective database was maintained for all the participants in urological laparoscopic courses run by a single dedicated unit between January 2016 and December 2016. Data on various variables were collected using a follow-up validated questionnaire exploring speciality of clinical practice, challenges and need for additional training to establish clinical services, improvement in quality and frequency of laparoscopic courses. A subset of participants reported data of their outcomes in a national database available publically. RESULTS: One hundred sixty one delegates were drawn from 18 countries attended laparoscopic skills courses during the study period of 10 years. Data were available for 154 (95.65%) participants. There were only 20 (20/154; 12.9%) responses to online website questionnaires despite 3 reminders. Further, follow-up through websites/telephonic contact/organizational contacts improved the response rate to 93% (143/154). Of the participants, 95% (135/143) felt that these courses should be continued, and they agreed to recommend them to their trainees in the future. More than 50% (81/143; 56.6%) of the participants performed laparoscopic/robotic surgery at various centers. Sixty two (62/143; 43.3%) did not pursue laparoscopic surgery as a career choice. Fifty six (56/81; 69%) participants were established laparoscopic surgeons were from the UK, and of them, 30 (30/56; 53.57%: 30/81; 37.04%) were established surgeons that contributed to publishing their results through professional organizations with the outcomes of all of these within normal ranges of their peers. CONCLUSIONS: A dedicated laparoscopic urological surgery course run over a decade had a significant impact on the skills of participants, and most participants were able to establish clinical practice catering to a large proportion of the UK population as well as a few centers internationally.


Asunto(s)
Competencia Clínica , Laparoscopía/educación , Entrenamiento Simulado , Procedimientos Quirúrgicos Urológicos/métodos , Urología/educación , Humanos , Factores de Tiempo
6.
Prev Med ; 112: 130-137, 2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-29678615

RESUMEN

Electronic cigarette (e-cigarette) advertising regulations differ across countries. This study examines how differences in e-cigarette advertising regulations influence exposure to e-cigarette advertising, and perceptions about what participants had seen and read about e-cigarettes. Data come from the ITC Four Country Survey (Canada [CA], United States [US], Australia [AU] and United Kingdom [UK]) carried out between August 2013 and March 2015 (n = 3460). In 2014, AU and CA had laws prohibiting the retail sale of e-cigarettes containing nicotine while the US and UK had no restrictions, although a voluntary agreement restricting advertising in the UK was introduced during fieldwork. Smokers and ex-smokers were asked whether in the last six months they had noticed e-cigarettes advertisements and received free samples/special offers (promotion), and about their perceptions (positive or otherwise) of what they had seen or read about e-cigarettes. Data were analyzed in 2017. US and UK participants were more likely to report that they had noticed e-cigarette advertisements and received promotions compared to CA or AU participants. For TV and radio advertisements, reported exposure was higher in US compared to UK. For all types of advertisements, reported exposure was higher in CA than AU. Overall, nearly half of AU (44.0%) and UK (47.8%) participants perceived everything they had seen and read about e-cigarettes to be positive, with no significant differences between AU and UK. Participants in countries with permissive e-cigarette advertising restrictions and less restrictive e-cigarette regulations were more likely to notice advertisements than participants in countries with more restrictive e-cigarette regulations.


Asunto(s)
Publicidad , Sistemas Electrónicos de Liberación de Nicotina/estadística & datos numéricos , Mercadotecnía , Industria del Tabaco/legislación & jurisprudencia , Adulto , Australia , Canadá , Femenino , Humanos , Masculino , Persona de Mediana Edad , Nicotina/administración & dosificación , Percepción , Fumar/legislación & jurisprudencia , Encuestas y Cuestionarios , Reino Unido , Estados Unidos
7.
Psychol Med ; 48(4): 669-678, 2018 03.
Artículo en Inglés | MEDLINE | ID: mdl-28780913

RESUMEN

BACKGROUND: Smoking prevalence is doubled among people with mental health problems and reaches 80% in inpatient, substance misuse and prison settings, widening inequalities in morbidity and mortality. As more institutions become smoke-free but most smokers relapse immediately post-discharge, we aimed to review interventions to maintain abstinence post-discharge. METHODS: MEDLINE, EMBASE, PsycINFO, CINAHL and Web of Science were searched from inception to May 2016 and randomised controlled trials (RCTs) and cohort studies conducted with adult smokers in prison, inpatient mental health or substance use treatment included. Risk of bias (study quality) was rated using the Effective Public Health Practice Project Tool. Behaviour change techniques (BCTs) were coded from published papers and manuals using a published taxonomy. Mantel-Haenszel random effects meta-analyses of RCTs used biochemically verified point-prevalence smoking abstinence at (a) longest and (b) 6-month follow-up. RESULTS: Five RCTs (n = 416 intervention, n = 415 control) and five cohort studies (n = 471) included. Regarding study quality, four RCTs were rated strong, one moderate; one cohort study was rated strong, one moderate and three weak. Most common BCTs were pharmacotherapy (n = 8 nicotine replacement therapy, n = 1 clonidine), problem solving, social support, and elicitation of pros and cons (each n = 6); papers reported fewer techniques than manuals. Meta-analyses found effects in favour of intervention [(a) risk ratio (RR) = 2.06, 95% confidence interval (CI) 1.30-3.27; (b) RR = 1.86, 95% CI 1.04-3.31]. CONCLUSION: Medication and/or behavioural support can help maintain smoking abstinence beyond discharge from smoke-free institutions with high mental health comorbidity. However, the small evidence base tested few different interventions and reporting of behavioural interventions is often imprecise.


Asunto(s)
Cese del Hábito de Fumar/métodos , Prevención del Hábito de Fumar , Fumar/epidemiología , Adulto , Terapia Conductista/métodos , Bupropión/uso terapéutico , Humanos , Ensayos Clínicos Controlados Aleatorios como Asunto , Fumar/psicología , Cese del Hábito de Fumar/psicología , Agentes para el Cese del Hábito de Fumar/uso terapéutico , Dispositivos para Dejar de Fumar Tabaco
8.
Psychol Med ; 48(1): 123-131, 2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-28655360

RESUMEN

BACKGROUND: The association between cigarette smoking and psychosis remains unexplained, but could relate to causal effects in both directions, confounding by socioeconomic factors, such as ethnicity, or use of other substances, including cannabis. Few studies have evaluated the association between cigarettes and psychotic experiences (PEs) in diverse, inner-city populations, or relationships with number of cigarettes consumed. METHODS: We assessed associations and dose-response relationships between cigarette smoking and PEs in a cross-sectional survey of household residents (n = 1680) in South East London, using logistic regression to adjust for cannabis use, other illicit substances, and socioeconomic factors, including ethnicity. RESULTS: We found association between any PEs and daily cigarette smoking, which remained following adjustment for age, gender, ethnicity, cannabis and use of illicit stimulant drugs (fully adjusted odds ratio 1.47, 95% confidence interval 1.01-2.15). Fully adjusted estimates for the association, and with number of PEs, increased with number of cigarettes smoked daily, implying a dose-response effect (p = 0.001 and <0.001, respectively). Odds of reporting any PEs in ex-smokers were similar to never-smokers. CONCLUSIONS: In this diverse epidemiological sample, association between smoking and PEs was not explained by confounders such as cannabis or illicit drugs. Daily cigarette consumption showed a dose-response relationship with the odds of reporting PEs, and of reporting a greater number of PEs. There was no difference in odds of reporting PEs between ex-smokers and never-smokers, raising the possibility that the increase in PEs associated with smoking may be reversible.


Asunto(s)
Fumar Cigarrillos/epidemiología , Trastornos Psicóticos/epidemiología , Adolescente , Adulto , Anciano , Factores de Confusión Epidemiológicos , Estudios Transversales , Femenino , Humanos , Modelos Logísticos , Londres/epidemiología , Masculino , Fumar Marihuana/epidemiología , Persona de Mediana Edad , Factores Socioeconómicos , Encuestas y Cuestionarios , Adulto Joven
10.
J Clin Pharm Ther ; 41(2): 229-36, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26960965

RESUMEN

WHAT IS KNOWN AND OBJECTIVE: Metformin is the only oral antihyperglycemic agent approved for use in adolescents with type 2 diabetes mellitus (T2DM). There are reports of metformin used to treat conditions such as obesity, hyperinsulinemia, prediabetes, metabolic syndrome and polycystic ovarian syndrome (PCOS). It is important to understand metformin prescription patterns and underlying diagnoses in adolescents as it can provide estimates of the extent of on-label (i.e. treatment of T2DM) and off-label use of metformin in this population. Our study sought to assess metformin prescription patterns among US adolescents from 2009 to 2013. METHODS: Data from the National Disease and Therapeutic Index (NDTI) database, the MarketScan(®) Commercial Claims and Encounters database and the Multi-State Medicaid database were analysed. The proportion of diagnoses associated with metformin that was recommended during a clinical visit was identified in the NDTI database. In the MarketScan(®) Commercial and Medicaid databases, adolescents with at least one metformin prescription with ±6 months continuous enrolment from the date of the index metformin prescription were included in the analyses. All diagnosis and procedure codes were extracted within ±6 months of the index metformin prescription. The proportion of T2DM was calculated irrespective of any other medical conditions, whereas all other prespecified conditions were classified as positive only if no concurrent T2DM diagnosis codes were present. RESULTS AND DISCUSSION: In the NDTI database, the most common diagnoses associated with metformin use were diabetes (34·9%), followed by metabolic syndrome (20·9%), PCOS (17·2%) and obesity (6·5%). In the MarketScan(®) Commercial database, T2DM was the most common diagnosis among girls aged 10-14 years (22·8-23·6%), boys aged 10-14 years (20·5-24·5%) and boys aged 15-19 years (37·1-43·1%), whereas PCOS (24·1-28·3%) was the most common diagnosis among girls aged 15-19 years. In the Medicaid database, T2DM was the most common diagnosis among all four groups and the proportions were higher than their counterparts in the Commercial database. WHAT IS NEW AND CONCLUSION: Analyses from three separate US data sources suggest that off-label prescribing of metformin is common among US adolescents aged 10-19 years. To avoid potential overestimation, caution should be exercised when utilizing metformin prescription as a proxy measure to estimate the burden of T2DM in adolescents.


Asunto(s)
Diabetes Mellitus Tipo 2/tratamiento farmacológico , Prescripciones de Medicamentos , Hipoglucemiantes/uso terapéutico , Metformina/uso terapéutico , Pautas de la Práctica en Medicina , Adolescente , Adulto , Niño , Bases de Datos Factuales , Femenino , Humanos , Masculino , Uso Fuera de lo Indicado , Estados Unidos , Adulto Joven
11.
Tob Control ; 25(1): 21-6, 2016 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25037155

RESUMEN

AIM: To examine the effects of tobacco control television advertisements with positive and negative emotional content on adult smoking prevalence and cigarette consumption. DESIGN: Analysis of monthly cross-sectional surveys using generalised additive models. SETTING: England. PARTICIPANTS: 60 000 adults aged 18 years or over living in England and interviewed in the Opinions and Lifestyle Survey from 2004 to 2010. MEASUREMENTS: Current smoking status, daily cigarette consumption, tobacco control gross rating points (GRPs-a measure of per capita advertising exposure), cigarette costliness, concurrent tobacco control policies, sociodemographic variables. RESULTS: After adjusting for cigarette costliness, other tobacco control policies and individual characteristics, we found that a 400-point increase in positive emotive GRPs was associated with 7% lower odds of smoking (odds ratio (OR) 0.93, 95% CI 0.87 to 0.98) 1 month later and a similar increase in negative emotive GRPs was significantly associated with 4% lower odds of smoking (OR 0.96, 95% CI 0.92 to 0.999) 2 months later. An increase in negative emotive GRPs from 0 to 400 was also associated with a significant 3.3% (95% CI 1.1 to 5.6) decrease in average cigarette consumption. There was no evidence that the association between positive emotive GRPs and the outcomes differed depending on the intensity of negative emotive GRPs (and vice versa). CONCLUSIONS: This is the first study to explore the effects of campaigns with different types of emotive content on adult smoking prevalence and consumption. It suggests that both types of campaign (positive and negative) are effective in reducing smoking prevalence, whereas consumption among smokers was only affected by campaigns evoking negative emotions.


Asunto(s)
Publicidad , Emociones , Prevención del Hábito de Fumar , Televisión , Estudios Transversales , Inglaterra , Humanos , Fumar/epidemiología , Factores de Tiempo
12.
BMC Public Health ; 15: 869, 2015 Sep 08.
Artículo en Inglés | MEDLINE | ID: mdl-26350614

RESUMEN

BACKGROUND: There is considerable evidence that tobacco control mass media campaigns can change smoking behaviour. In the UK, campaigns over the last decade have contributed to declines in smoking prevalence and been associated with falls in cigarette consumption among continuing smokers. However, it is less evident whether such campaigns can also play a role in changing smokers' behaviour in relation to protecting others from the harmful effects of their smoking in the home. We investigated whether exposure to English televised tobacco control campaigns, and specifically campaigns targeting second hand smoking, is associated with smokers having a smoke-free home. METHODS: We used repeated cross-sectional national survey data on 9872 households which participated in the Health Survey for England between 2004 and 2010, with at least one adult current smoker living in the household. Exposure to all government-funded televised tobacco control campaigns, and to those specifically with a second hand smoking theme, was quantified in Gross Rating Points (GRPs), an average per capita measure of advert exposure where 100 GRPs indicates 100 % of adults exposed once or 50 % twice. Our outcome was self-reported presence of a smoke-free home (where no one smokes in the home on most days). Analysis used generalised additive models, controlling for individual factors and temporal trends. RESULTS: There was no association between monthly televised campaigns overall and the probability of having a smoke-free home. However, exposure to campaigns specifically targeting second hand smoke was associated with increased odds of a smoke-free home in the following month (odds ratio per additional 100 GRPs, 1.07, 95 % CI 1.01 to 1.13), though this association was not seen at other lags. These effects were not modified by socio-economic status or by presence of a child in the home. CONCLUSIONS: Our findings provide tentative evidence that mass media campaigns specifically focussing on second hand smoke may be effective in reducing smoking in the home, and further evaluation of campaigns of this type is needed. General tobacco control campaigns in England, which largely focus on promoting smoking cessation, do not impact on smoke-free homes over and above their direct effect at reducing smoking.


Asunto(s)
Publicidad/estadística & datos numéricos , Promoción de la Salud/estadística & datos numéricos , Cese del Hábito de Fumar/estadística & datos numéricos , Prevención del Hábito de Fumar , Televisión , Contaminación por Humo de Tabaco/prevención & control , Adulto , Anciano , Niño , Estudios Transversales , Inglaterra/epidemiología , Femenino , Encuestas Epidemiológicas , Humanos , Masculino , Prevalencia , Humo , Fumar/epidemiología , Clase Social , Nicotiana , Contaminación por Humo de Tabaco/estadística & datos numéricos
13.
Public Health ; 129(9): 1150-6, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-26293814

RESUMEN

OBJECTIVES: The recent growth in the market for electronic cigarettes (e-cigarettes) has led to concerns over their use by young people. It is therefore important to examine trends in the perception and use of e-cigarettes and conventional cigarettes in this group. STUDY DESIGN: Two-wave cross-sectional survey design. METHODS: Young people aged 11-18 in Great Britain were surveyed online by YouGov in 2013 and 2014. Use of e-cigarettes, together with perceived health harms and intention to use were assessed and compared in relation to cigarette smoking history, age and gender. RESULTS: Ever-use of e-cigarettes increased significantly from 4.6% (95% CI 3.8-5.7) in 2013 to 8.2% (95% CI 7.0-9.6) in 2014. Monthly or more use of e-cigarettes increased from 0.9% (95% CI 0.5-1.5) to 1.7 (1.2-2.4), but remained rare in never-smokers at under 0.2%. The proportion of young people who perceived e-cigarettes to be less harmful to users than cigarettes fell from 73.4% (95% CI 71.0-75.8) to 66.9% (95% CI 64.5-69.2), while the proportion who considered e-cigarettes to cause similar levels of harm increased from 11.8% (95% CI 10.0-13.5) to 18.2% (95% CI 16.3-20.1). Of the 8.2% of e-cigarette ever-users in 2014, 69.8% (95% CI 62.2%-77.3%) had smoked a cigarette prior to using an e-cigarette, while 8.2% (95% CI 4.1%-12.2%) first smoked a cigarette after e-cigarette use. CONCLUSIONS: A growing proportion of young people in Great Britain believe e-cigarettes are as harmful as smoking tobacco. Use of e-cigarettes by young people is increasing, but is largely confined to those who smoke.


Asunto(s)
Sistemas Electrónicos de Liberación de Nicotina/estadística & datos numéricos , Adolescente , Actitud Frente a la Salud , Niño , Estudios Transversales , Femenino , Humanos , Intención , Masculino , Fumar/epidemiología , Fumar/psicología , Encuestas y Cuestionarios , Reino Unido/epidemiología
14.
Psychol Health ; 27(9): 1118-33, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22583084

RESUMEN

OBJECTIVES: Use of nicotine replacement therapy (NRT) for smoking reduction (SR) is linked to higher quit attempt rates than SR without NRT. This study aimed to assess the possible mediating roles of confidence in ability to quit, enjoyment of smoking and motivation to quit in this association. DESIGN: Cross-sectional survey. MAIN OUTCOME MEASURES: Smokers were asked if they were currently attempting SR, and if they were, whether they were using NRT. Motivation to stop, enjoyment of smoking, confidence in ability to stop, and previous quit attempts, were also assessed. RESULTS: There was no evidence that confidence in ability to quit or enjoyment of smoking mediated the association between the use of NRT for SR and attempts to quit. Only motivation to stop partially mediated between the use of NRT for SR and attempts to stop (indirect effect: odds ratio 1.08, p < 0.001). CONCLUSION: Although this study is limited by its cross-sectional design, the findings point towards the possibility that the use of NRT to aid SR may promote attempts to stop through increasing motivation to quit but not by increasing confidence or by reducing enjoyment of smoking. Longitudinal studies are required to draw firmer conclusions about the possible mediating effects of motivation to quit.


Asunto(s)
Motivación , Cese del Hábito de Fumar/métodos , Cese del Hábito de Fumar/psicología , Dispositivos para Dejar de Fumar Tabaco , Adulto , Estudios de Cohortes , Estudios Transversales , Femenino , Humanos , Intención , Masculino , Persona de Mediana Edad , Autoeficacia , Cese del Hábito de Fumar/estadística & datos numéricos , Estadística como Asunto , Tabaquismo/epidemiología , Tabaquismo/psicología , Tabaquismo/rehabilitación , Reino Unido
15.
AJNR Am J Neuroradiol ; 33(9): 1810-3, 2012 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-22499840

RESUMEN

Neuroferritinopathy is an autosomal dominant extrapyramidal movement disorder, caused by FTL gene mutations. Iron decreases the MR T2* decay time, therefore increasing the R2* (R2* = 1 /T2*), which correlates with brain tissue iron content. 3T structural and quantitative MR imaging assessment of R2* in 10 patients with neuroferritinopathy demonstrated a unique pattern of basal ganglia cavitation involving the substantia nigra in older patients and increasing thalamic R2* signal intensity detectable during 6 months. Increasing R2* signal intensity in the thalamus correlated with progression on a clinical rating scale measuring dystonia severity. Thalamic R2* signal intensity is a clinically useful method of objectively tracking disease progression in this form of neurodegeneration with brain iron accumulation.


Asunto(s)
Interpretación de Imagen Asistida por Computador/métodos , Trastornos del Metabolismo del Hierro/metabolismo , Sobrecarga de Hierro/metabolismo , Hierro/metabolismo , Distrofias Neuroaxonales/metabolismo , Tálamo/metabolismo , Adulto , Femenino , Humanos , Trastornos del Metabolismo del Hierro/complicaciones , Trastornos del Metabolismo del Hierro/patología , Sobrecarga de Hierro/complicaciones , Sobrecarga de Hierro/patología , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Distrofias Neuroaxonales/complicaciones , Distrofias Neuroaxonales/patología , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Tálamo/patología
16.
Mol Genet Metab ; 104(4): 637-43, 2011 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-21959080

RESUMEN

Pelizaeus-Merzbacher-like disease (PMLD) is a clinically and genetically heterogeneous neurological disorder of cerebral hypomyelination. It is clinically characterised by early onset (usually infantile) nystagmus, impaired motor development, ataxia, choreoathetoid movements, dysarthria and progressive limb spasticity. We undertook autozygosity mapping studies in a large consanguineous family of Pakistani origin in which affected children had progressive lower limb spasticity and features of cerebral hypomyelination on MR brain imaging. SNP microarray and microsatellite marker analysis demonstrated linkage to chromosome 1q42.13-1q42.2. Direct sequencing of the gap junction protein gamma-2 gene, GJC2, identified a promoter region mutation (c.-167A>G) in the non-coding exon 1. The c.-167A>G promoter mutation was identified in a further 4 individuals from two families (who were also of Pakistani origin) with clinical and radiological features of PMLD in whom previous routine diagnostic screening of GJC2 had been reported as negative. A common haplotype was identified at the GJC2 locus in the three mutation-positive families, consistent with a common origin for the mutation and likely founder effect. This promoter mutation has only recently been reported in GJC2-PMLD but it has been postulated to affect the binding of the transcription factor SOX10 and appears to be a prevalent mutation, accounting for ~29% of reported patients with GJC2-PMLD. We propose that diagnostic screening of GJC2 should include sequence analysis of the non-coding exon 1, as well as the coding regions to avoid misdiagnosis or diagnostic delay in suspected PMLD.


Asunto(s)
Conexinas/genética , Enfermedad de Pelizaeus-Merzbacher/genética , Mutación Puntual , Regiones Promotoras Genéticas , Adolescente , Adulto , Niño , Preescolar , Consanguinidad , Análisis Mutacional de ADN , Femenino , Efecto Fundador , Estudios de Asociación Genética , Ligamiento Genético , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Neuroimagen , Pakistán , Linaje , Adulto Joven
18.
Addiction ; 106(1): 197-204, 2011 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-21083833

RESUMEN

AIMS: To assess the prevalence of nicotine replacement therapy (NRT) use for smoking reduction (SR) and temporary abstinence (TA), the association between the two and the strength of the association between NRT use for SR or TA and socio-demographic characteristics, cigarette consumption and past quit attempts. DESIGN: Cross-sectional monthly surveys. SETTING: England. PARTICIPANTS: A total of 11, 414 smokers. MEASUREMENTS: Participants were asked (i) whether they were reducing the amount they smoked: if so, whether they used NRT; and (ii) whether they used NRT for TA. Demographic characteristics, daily cigarette consumption and whether a quit attempt had been made in the past 12 months were also assessed. FINDINGS: Of the participants, 56% were attempting SR, 14% were using NRT for SR and 14% were using NRT for TA. Use of NRT for SR and TA were highly correlated. The nicotine patch was the most commonly used form of NRT. The use of NRT for SR, compared with unassisted SR, was more common among older smokers, while the use of NRT for TA was more common among women. Cigarette consumption was higher in those using NRT for SR than those attempting SR without NRT. The use of NRT for SR and TA was associated positively with past quit attempts. CONCLUSIONS: Nicotine replacement therapy use for smoking reduction and temporary abstinence is common in England. The use of NRT for SR and TA does not appear to be associated with lower cigarette consumption relative to SR or TA without NRT, but is associated with a higher rate of past quit attempts.


Asunto(s)
Nicotina/uso terapéutico , Agonistas Nicotínicos/uso terapéutico , Cese del Hábito de Fumar/métodos , Prevención del Hábito de Fumar , Tabaquismo/tratamiento farmacológico , Adulto , Factores de Edad , Goma de Mascar/estadística & datos numéricos , Inglaterra/epidemiología , Femenino , Reducción del Daño , Conocimientos, Actitudes y Práctica en Salud , Encuestas Epidemiológicas , Humanos , Masculino , Muestreo , Distribución por Sexo , Fumar/epidemiología , Cese del Hábito de Fumar/psicología , Cese del Hábito de Fumar/estadística & datos numéricos , Factores Socioeconómicos , Factores de Tiempo , Contaminación por Humo de Tabaco/prevención & control , Tabaquismo/epidemiología , Parche Transdérmico/estadística & datos numéricos
19.
Health Technol Assess ; 14(49): 1-152, iii-iv, 2010 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-21040645

RESUMEN

BACKGROUND: Reducing smoking is a chief priority for governments and health systems like the UK National Health Service (NHS). The UK has implemented a comprehensive tobacco control strategy involving a combination of population tobacco control interventions combined with treatment for dependent smokers through a national network of NHS Stop Smoking Services (NHS SSS). OBJECTIVES: To assess the effectiveness and cost-effectiveness of relapse prevention in NHS SSS. To (1) update current estimates of effectiveness on interventions for preventing relapse to smoking; (2) examine studies that provide findings that are generalisable to NHS SSS, and which test interventions that might be acceptable to introduce within the NHS; and (3) determine the cost-effectiveness of those relapse preventions interventions (RPIs) that could potentially be delivered by the NHS SSS. DATA SOURCES: A systematic review of the literature and economic evaluation were carried out. In addition to searching the Cochrane Tobacco Addiction Group register of trials (2004 to July 2008), MEDLINE, the Cochrane Central Register of Controlled Trials, EMBASE, PsycINFO, the Science Citation Index and Social Science Citation Index were also searched. REVIEW METHODS: The project was divided into four distinct phases with different methodologies: qualitative research with a convenience sample of NHS SSS managers; a systematic review investigation the efficacy of RPIs; a cost-effectiveness analysis; and a further systematic review to derive the relapse curves for smokers receiving evidence-based treatment of the type delivered by the NHS SSS. RESULTS: Qualitative research with 16 NHS SSS managers indicated that there was no shared understanding of what relapse prevention meant or of the kinds of interventions that should be used for this. The systematic review included 36 studies that randomised and delivered interventions to abstainers. 'Self-help' behavioural interventions delivered to abstainers who had achieved abstinence unaided were effective for preventing relapse to smoking at long-term follow-up [odds ratio (OR) 1.52, 95% confidence interval (CI) 1.15 to 2.01]. The following pharmacotherapies were also effective as RPIs after their successful use as cessation treatments: bupropion at long-term follow-up (pooled OR 1.49, 95% CI 1.10 to 2.01); nicotine replacement therapy (NRT) at medium- (pooled OR 1.56, 95% CI 1.16 to 2.11) and long-term follow-ups (pooled OR 1.33, 95% CI 1.08 to 1.63) and one trial of varenicline also indicated effectiveness. The health economic analysis found that RPIs are highly cost-effective. Compared with 'no intervention'; using bupropion resulted in an incremental quality-adjusted life-year (QALY) increase of 0.07, with a concurrent NHS cost saving of 68 pounds; for NRT, spending 12 pounds resulted in a 0.04 incremental QALY increase; varenicline resulted in a similar QALY increase as NRT, but at almost seven times the cost. Extensive sensitivity analyses demonstrated that cost-effectiveness ratios were more sensitive to variations in effectiveness than cost and that for bupropion and NRT, cost-effectiveness generally remained. Varenicline also demonstrated cost-effectiveness at a 'willingness-to-pay' threshold of 20,000 pounds per QALY, but exceeded this when inputted values for potential effectiveness were at the lower end of the range explored. For all drugs, there was substantial relapse to smoking after treatment courses had finished. Quit attempts involving NRT appeared to have the highest early relapse rates, when trial participants would be expected to still be on treatment, but for those involving bupropion and varenicline little relapse was apparent during this time. LIMITATIONS: The qualitative research sample was small. CONCLUSIONS: Based on the totality of evidence, RPIs are expected to be effective and cost-effective if incorporated into routine treatment within the NHS SSS. While staff within the NHS SSS were largely favourably inclined towards providing RPIs, guidance would be needed to encourage the adoption of the most effective RPIs, as would incentives that focused on the importance of sustaining quit attempts beyond the currently monitored 4-week targets.


Asunto(s)
Salud Pública/economía , Cese del Hábito de Fumar/economía , Prevención del Hábito de Fumar , Benzazepinas/uso terapéutico , Análisis Costo-Beneficio , Medicina Basada en la Evidencia , Promoción de la Salud/economía , Humanos , Agonistas Nicotínicos/uso terapéutico , Piperidinas/uso terapéutico , Pirazoles/uso terapéutico , Investigación Cualitativa , Quinoxalinas/uso terapéutico , Rimonabant , Prevención Secundaria , Fumar/economía , Cese del Hábito de Fumar/métodos , Mercadeo Social , Medicina Estatal/economía , Insuficiencia del Tratamiento , Reino Unido , Vareniclina
20.
J Public Health (Oxf) ; 32(3): 372-8, 2010 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-20484160

RESUMEN

BACKGROUND: The carcinogenicity of chewing tobacco is well established. It is predominantly used by the South Asian community in England. Little is known about the accessibility of the products available for use in England. METHODS: Wards with high proportions or numbers of residents from the South Asian community were identified using 2001 Census data. Within each ward product purchasers identified retail outlets and purchased chewing tobacco products from them. RESULTS: Chewing tobacco products were found in a broad variety of premises in all but one ward, and were easily accessible. Ninety-eight products were identified and purchased with a mean price of pound1.82. Of the ninety four pre-packaged products purchased only 15% (95% CI: 8%, 22%) complied with legal health warning requirements. CONCLUSION: The study indicates the need to improve compliance with legal controls and enforcement to protect the South Asian community from health risks associated with chewing tobacco products.


Asunto(s)
Comercio , Tabaco sin Humo/provisión & distribución , Asia/etnología , Censos , Inglaterra , Femenino , Humanos , Masculino , Observación , Embalaje de Productos/legislación & jurisprudencia , Tabaco sin Humo/economía
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