RESUMO
Substance use disorders (SUD) treatment centers are an optimal setting for delivering smoking cessation interventions (SCI). This study aimed to examine the adoption of SCI in SUD treatment centers in Catalonia (Spain) as well as to assess their managers' views on the appropriateness and feasibility of providing SCI. Managers directly in charge of SUD treatment centers (n = 57) answered a 30-item on-line questionnaire. Data was obtained of 50 centers (87.7% response rate). Forty-six per cent of the centers provided some kind of SCI, but only 4.8% of the new patients were treated for smoking cessation. Managers reported that 73.3% of mental health professionals working in SUD centers had not been trained in SCI. Sixty-four per cent of managers agreed that all health professionals should deliver SCI. Those centers offering SCI attended more patients and were more likely to have professionals trained in SCI than those not offering SCI. The implementation of SCI in SUD treatment centers in Catalonia was suboptimal. Continuing education and training should be provided for all health professionals working in SUD centers. Not systematically delivering SCI to patients in treatment for other SUD means missing opportunities to reduce health and economic costs while perpetuating a smoking culture.
Los centros de tratamiento de drogodependencias son un recurso óptimo para realizar intervenciones para la cesación tabáquica (ICT). El objetivo de este estudio fue examinar la implementación de ICT en la Red de centros de Atención a las Drogodependencias (CAS) de Cataluña, así como evaluar las opiniones sobre la adecuación y viabilidad de la provisión de ICT. Los responsables de los CAS (n = 57) contestaron un cuestionario on-line compuesto por 30 ítems. Se obtuvieron datos de 50 centros (87,7% tasa de respuesta). El 46% de los CAS ofrecía algún tipo de ICT, pero sólo un 4,8% de los nuevos pacientes eran tratados para dejar de fumar. Además, los responsables informaron que el 73,3% de los profesionales que trabajaban en los CAS no había recibido formación en ICT. El 64% de los responsables estaba de acuerdo que todos los profesionales deberían realizar ICT. Aquellos centros que ofrecían ICT visitaban más pacientes y era más probable que tuviesen profesionales formados en ICT, comparado con los centros que no ofrecían ICT. La implementación de ICT en los CAS de Cataluña era subóptima. Se debería facilitar formación continuada a los profesionales de los CAS. No intervenir sobre el consumo de tabaco en pacientes en tratamiento por otras drogodependencias significa perder oportunidades para reducir costes en salud y económicos mientras perpetuamos una cultura fumadora.
Assuntos
Comportamento Aditivo , Abandono do Hábito de Fumar , Transtornos Relacionados ao Uso de Substâncias , Terapia Comportamental , Humanos , Espanha , Transtornos Relacionados ao Uso de Substâncias/terapiaRESUMO
BACKGROUND: In mammals, hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that is characterized by sparse hair, tooth abnormalities, and defects in cutaneous glands. Only four genes, EDA, EDAR, EDARADD and WNT10A account for more than 90% of HED cases, and EDA, on chromosome X, is involved in 50% of the cases. In this study, we explored an isolated case of a female Holstein calf with symptoms similar to HED. RESULTS: Clinical examination confirmed the diagnosis. The affected female showed homogeneous hypotrichosis and oligodontia as previously observed in bovine EDAR homozygous and EDA hemizygous mutants. Under light microscopy, the hair follicles were thinner and located higher in the dermis of the frontal skin in the affected animal than in the control. Moreover, the affected animal showed a five-fold increase in the number of hair follicles and a four-fold decrease in the diameter of the pilary canals. Pedigree analysis revealed that the coefficient of inbreeding of the affected calf (4.58%) was not higher than the average population inbreeding coefficient (4.59%). This animal had ten ancestors in its paternal and maternal lineages. By estimating the number of affected cases that would be expected if any of these common ancestors carried a recessive mutation, we concluded that, if they existed, other cases of HED should have been reported in France, which is not the case. Therefore, we assumed that the causal mutation was dominant and de novo. By analyzing whole-genome sequencing data, we identified a large chromosomal inversion with breakpoints located in the first introns of the EDA and XIST genes. Genotyping by PCR-electrophoresis the case and its parents allowed us to demonstrate the de novo origin of this inversion. Finally, using various sources of information we present a body of evidence that supports the hypothesis that this mutation is responsible for a skewed inactivation of X, and that only the normal X can be inactivated. CONCLUSIONS: In this article, we report a unique case of X-linked HED affected Holstein female calf with an assumed full inactivation of the normal X-chromosome, thus leading to a severe phenotype similar to that of hemizygous males.
Assuntos
Inversão Cromossômica/genética , Cromossomos de Mamíferos/genética , Displasia Ectodérmica/genética , Ectodisplasinas/genética , Heterozigoto , RNA Longo não Codificante/genética , Animais , Bovinos , Feminino , Masculino , Linhagem , Sequenciamento Completo do GenomaRESUMO
The composition and structure of fleece variation observed in mammals is a consequence of a strong selective pressure for fiber production after domestication. In sheep, fleece variation discriminates ancestral species carrying a long and hairy fleece from modern domestic sheep (Ovis aries) owning a short and woolly fleece. Here, we report that the "woolly" allele results from the insertion of an antisense EIF2S2 retrogene (called asEIF2S2) into the 3' UTR of the IRF2BP2 gene leading to an abnormal IRF2BP2 transcript. We provide evidence that this chimeric IRF2BP2/asEIF2S2 messenger 1) targets the genuine sense EIF2S2 RNA and 2) creates a long endogenous double-stranded RNA which alters the expression of both EIF2S2 and IRF2BP2 mRNA. This represents a unique example of a phenotype arising via a RNA-RNA hybrid, itself generated through a retroposition mechanism. Our results bring new insights on the sheep population history thanks to the identification of the molecular origin of an evolutionary phenotypic variation.
Assuntos
Carneiro Doméstico/genética , Ovinos/genética , Animais , Evolução Biológica , Proteínas de Transporte/genética , DNA Antigo , Variação Genética/genética , Genoma , Estudo de Associação Genômica Ampla/métodos , Mutação , Fenótipo , Fatores de Transcrição/genética , LãRESUMO
UNLABELLED: The safety of varenicline in the treatment of tobacco dependence has been questioned, in psychiatric patients. However, most published studies have not included psychiatric patients. OBJECTIVE: Assess the safety of varenicline for smoking cessation in patients with psychiatric disorders. METHODS: This is a prospective, longitudinal, multicenter study. The sample is composed of three groups (patients with psychotic disorder, patients with alcohol dependence disorder and patients addicts in methadone maintenance treatment). Patients were recruited consecutively between September 2008 and June 2009 from 11 centers. All patients received a standardized smoking cessation program with varenicline and psychological support. Adverse events of the drug were monitored at weeks 1, 2, 4, 6, 8, and 12 of treatment. Bivariate analysis has been used. RESULTS: None of the 90 patients included, presented a serious adverse event. The most frequent adverse effect was dry mouth (28.9%), followed by the presence of flatulence (27.8%), abnormal dreams (27.8%), and nausea (22%), especially between weeks 2 and 6 of treatment. None of the patients referred intense suicidal ideation, although two referred to moderate suicidal ideation, which was solved in one case and in the other, treatment was discontinued. Four participants (4.4%) abandoned treatment because of gastrointestinal symptoms. The initial dose of varenicline was reduced in 25% of patients during the study. CONCLUSIONS: Gastrointestinal adverse events are the most incident in this sample of psychiatric patients and no exacerbation of psychiatric symptoms was detected, thus indicating a good safety record for varenicline use for smoking cessation in psychiatric patients.
Assuntos
Abandono do Hábito de Fumar/métodos , Fumar/tratamento farmacológico , Dispositivos para o Abandono do Uso de Tabaco/efeitos adversos , Vareniclina/efeitos adversos , Adulto , Aconselhamento , Feminino , Humanos , Estudos Longitudinais , Masculino , Transtornos Mentais , Pessoa de Meia-Idade , Estudos Prospectivos , Transtornos Relacionados ao Uso de Substâncias , Vareniclina/uso terapêuticoRESUMO
In the context of the COVID-19 pandemic, this paper provides recommendations for medical eye care during the easing of control measures after lockdown. The guidelines presented are based on a literature review and consensus among all Spanish Ophthalmology Societies regarding protection measures recommended for the ophthalmologic care of patients with or without confirmed COVID-19 in outpatient, inpatient, emergency and surgery settings. We recommend that all measures be adapted to the circumstances and availability of personal protective equipment at each centre and also highlight the need to periodically update recommendations as we may need to readopt more restrictive measures depending on the local epidemiology of the virus. These guidelines are designed to avoid the transmission of SARS-CoV-2 among both patients and healthcare staff as we gradually return to normal medical practice, to prevent postoperative complications and try to reduce possible deficiencies in the diagnosis, treatment and follow-up of the ophthalmic diseases. With this update (5th ) the Spanish Society of Ophthalmology is placed as one of the major ophthalmology societies providing periodic and systematized recommendations for ophthalmic care during the COVID-19 pandemic.
Assuntos
COVID-19/transmissão , Controle de Doenças Transmissíveis/métodos , Oftalmologia/normas , Equipamento de Proteção Individual/normas , COVID-19/epidemiologia , Consenso , Oftalmopatias/terapia , Humanos , Pandemias/prevenção & controle , Guias de Prática Clínica como Assunto , SARS-CoV-2 , Espanha , Telemedicina/métodosRESUMO
We report the distribution of major and trace element concentrations in epipelagic zooplankton collected in the Northern Gulf of California in August 2003. The Bray-Curtis index defined three element assemblages in zooplankton: (1) major metals, which included only two elements, Na (3.6-17.0%) and Ca (1.0-4.8%). Na had its highest concentrations in the shallow tidally mixed Upper Gulf, where high salinity, temperature, and zooplankton biomass (dominated by copepods) prevailed. Ca showed its highest concentrations south of Ballenas Channel, characterized by tidal mixing and convergence-induced upwelling, indicated by low sea-surface temperature, salinity, and zooplankton biomass; (2) Six biological essential elements, like Fe (80-9,100 mg kg(-1)) and Zn (20-2,570 mg kg(-1)), were detected in high concentrations in zooplankton collected near Guaymas Basin, which had high surface temperature and chlorophyll a concentrations. (3) Metals of terrigenous origin, such as Sc (0.01-1.4 mg kg(-1)) and Th (0.03-2.3 mg kg(-1)), and redox-sensitive metals, like Co (3-23.8 mg kg(-1)); this was the assemblage with the largest number of elements (15). Both types of elements of assemblage 3 had maximum concentrations in the cyclonic eddy that dominates the summer circulation in the Northern region. We concluded that sediment resuspension by tidal mixing in the Upper Gulf, upwelling south of Ballenas Channel, and the cyclonic eddy were key oceanographic features that affected the element concentrations of epipelagic zooplankton in the Northern Gulf of California. Oceanographic mechanisms such as these may contribute to element incorporation in marine organisms in other seas.