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1.
Acta Med Port ; 32(6): 441-447, 2019 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-31292025

RESUMO

INTRODUCTION: Pre-exposure prophylaxis is defined as the use of antiretroviral drugs to prevent HIV acquisition in uninfected individuals. Recognizing the increasing use of informal pre-exposure prophylaxis in Portugal, CheckpointLX, a community clinic targeted to men who have sex with men in Lisbon, Portugal, began offering counselling and follow-up services prior to formal introduction. This study aims to characterize pre-exposure prophylaxis users attending CheckpointLX before formal pre-exposure prophylaxis introduction in Portugal, and those who were referred to pre-exposure prophylaxis in the National Health Service following formal approval of pre-exposure prophylaxis. MATERIAL AND METHODS: Data was collected by peer counsellors between May 2015 and September 2018 and inserted in a database. Medical care followed the European AIDS Clinical Society recommendations for pre-exposure prophylaxis eligibility, initiation and follow-up. For formal pre-exposure prophylaxis, the General-Directorate for Health's Pre-exposure Prophylaxis guidelines checklist was used. RESULTS: Until the end of May 2018, CheckpointLX had a total of 90 appointments for wild pre-exposure prophylaxis, of which 64 (71%) were first time visits. As for the 380 service users referred to the National Health Service, most were Portuguese (n = 318, 84%), and the mean age was 31 (8.9) years old. Condomless sex in the last six months with partners of unknown HIV status was the most common eligibility criteria (n = 59, 83%). DISCUSSION: Pre-exposure prophylaxis delivery should be complemented with effective information on the importance of immunization and education on safer practices of drug administration, in the scope of broader preventive sexual health care. CONCLUSION: Much remains to be done in Portugal to ensure that pre-exposure prophylaxis is available to those who need it the most. Offering pre-exposure prophylaxis at community clinics could be a first step.


Assuntos
Antirretrovirais/administração & dosagem , Infecções por HIV/prevenção & controle , Homossexualidade Masculina/estatística & dados numéricos , Profilaxia Pré-Exposição/estatística & dados numéricos , Adolescente , Adulto , Brasil/etnologia , Lista de Checagem , Preservativos/estatística & dados numéricos , Hospitais Especializados/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Portugal , Guias de Prática Clínica como Assunto , Encaminhamento e Consulta/estatística & dados numéricos , Aconselhamento Sexual/estatística & dados numéricos , Espanha/etnologia , Vacinação/estatística & dados numéricos , Adulto Jovem
2.
Mult Scler Relat Disord ; 32: 123-132, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31125754

RESUMO

BACKGROUND: Smartphone apps and wearable devices could augment clinical practice by detecting changes in health status for multiple sclerosis (MS). This study sought to investigate potential barriers and facilitators for uptake and sustained use in (i) people with both relapsing remitting MS (RRMS) and progressive MS (PMS) and (ii) across different countries. METHODS: Twenty four participants with MS took part in four focus groups held in three countries (2 in the UK, 1 in Spain, and 1 in Italy) to investigate potential barriers and facilitators for mHealth technology. A systematic thematic analysis was used to extract themes and sub-themes. RESULTS: Facilitators and barriers were organised into functional technology-related factors and non-functional health-related and user-related factors. Twelve themes captured all requirements across the three countries for both RRMS and PMS. Key requirements included accommodation for varying physical abilities, providing information and memory aids. Potential negative effects on mood and providing choice and control as part of overcoming practical challenges were identified. CONCLUSIONS: We took a cross-national perspective and found many similarities between three European countries across people with RRMS and PMS. Future provision should accommodate the key requirements identified to engage people with MS in scalable mHealth interventions.


Assuntos
Diversidade Cultural , Gerenciamento Clínico , Progressão da Doença , Esclerose Múltipla Recidivante-Remitente/diagnóstico , Esclerose Múltipla Recidivante-Remitente/etnologia , Telemedicina/métodos , Adulto , Estudos Transversais , Feminino , Grupos Focais , Humanos , Itália/etnologia , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/diagnóstico , Esclerose Múltipla/etnologia , Esclerose Múltipla/psicologia , Esclerose Múltipla Recidivante-Remitente/psicologia , Espanha/etnologia , Reino Unido/etnologia
3.
Nurs Outlook ; 67(4): 393-403, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31000158

RESUMO

BACKGROUND: The ethical values of nursing are crucial to the provision of humane care. Human dignity is a core value that must be preserved in order to deliver such care. No studies to date have compared the perceptions of nurses and/or patients regarding the components of dignified care embedded in actual clinical practice. PURPOSE: To explore the delivery of dignified care by professional nurses. This was an ethnographic qualitative study combining inductive and deductive methods to identify emergent themes. A multicenter study carried out in the internal medicine units of four hospitals in Barcelona (Spain). Convenience sampling was used to recruit nurses from the four units. SETTING AND SAMPLE: Multicenter study carried out in the internal medicine units of four hospitals in Barcelona (Spain). Convenience sampling was used to recruit nurses from the four units. METHOD: We conducted 158 hours of participant observation of 27 nurses. Semi-structured individual interviews were undertaken with 20 of these nurses, with data saturation being reached. Data were collected between September 2014 and May 2016 and were analysed using ATLAS.ti 7.2 for Windows. RESULTS: Two themes emerged from the analysis: Delivering dignified care and Factors influencing the delivery of dignified care. The nurses regarded human dignity as one of the key values of their profession. However, there was a discrepancy between their perceptions of the care they offered and what they actually did, due mainly to a lack of awareness about their own practice. Respect, confidentiality, privacy and communication were identified as the key elements underpinning dignified care. Institutional policies were seen as the major obstacle to the delivery of humane care, the key issues being frequent shift rotations, a high patient-nurse ratio and excessive paperwork. CONCLUSIONS: The results of this study underline the importance of delivering dignified care and the need to ensure that nurses' attitudes and behaviours are consistent with this goal. The ethnographic approach, combining participant observation with individual interviews, revealed discrepancies between nurses' perceptions of the care they offered, or should offer, and what they actually did. This suggests a need for professional forums in which nurses can become more aware of their own clinical practice.


Assuntos
Atitude do Pessoal de Saúde , Pacientes Internados/psicologia , Relações Enfermeiro-Paciente/ética , Cuidados de Enfermagem/ética , Recursos Humanos de Enfermagem no Hospital/psicologia , Pessoalidade , Adulto , Antropologia Cultural , Humanos , Pesquisa Qualitativa , Espanha/etnologia
4.
Endocrinol. diabetes nutr. (Ed. impr.) ; 66(4): 240-246, abr. 2019. tab
Artigo em Espanhol | IBECS | ID: ibc-183174

RESUMO

Antecedentes y objetivo: Las mujeres con antecedentes de diabetes mellitus gestacional (DMG) tienen mayor riesgo de diabetes. Si bien la etnia puede modificar este riesgo, no disponemos de estudios específicos en nuestro entorno. El objetivo del presente estudio fue determinar la incidencia de diabetes mellitus tipo 2 y prediabetes en el primer año posparto en mujeres con DMG y en un entorno multiétnico e identificar los factores asociados. Pacientes y métodos: Análisis retrospectivo de una cohorte observacional prospectiva de mujeres con DMG que acudieron al control posparto anual en el Hospital del Mar, entre enero de 2004 y marzo de 2016. Resultados: Trescientas cinco mujeres asistieron a las revisiones posparto. De estas, un 47,2% fueron caucásicas, un 22% del centro-sur de Asia, un 12% fueron de origen hispano y un 10% procedían de Marruecos y del este de Asia. La incidencia de diabetes mellitus tipo 2 y de prediabetes fue del 5,2 y el 36,6%, respectivamente. Los factores asociados al metabolismo alterado de la glucosa fueron la etnia no caucásica (OR=3,15, IC 95% [1,85-5,39]), los antecedentes previos de DMG (OR=2,26, IC 95% [1,11-4,59]) y el índice de masa corporal previo al embarazo (OR=1,09, IC 95% [1,04-1,15]). Conclusiones: En una población española de origen multiétnico, la incidencia de alteraciones del metabolismo hidrocarbonado en el primer año posparto de mujeres con antecedentes de DMG fue del 41,8%, siendo el riesgo 3 veces superior en las mujeres no caucásicas que en las caucásicas


Background and aim: Women with history of gestational diabetes mellitus (GDM) are at increased risk for diabetes. Ethnicity may modify such risk, but no studies have been conducted in our environment. The aim of this study was to assess the incidence of type 2 diabetes mellitus and prediabetes one year after delivery in women with GDM and in a multiethnic background and to identify the associated factors. Patients and methods: A retrospective analysis of a prospective, observational cohort of women with GDM who attended annual postpartum follow-up visits at Hospital del Mar from January 2004 to March 2016. Results: Three hundred and five women attended postpartum follow-up visits. Of these, 47.2% were Caucasian, 22% from South-Central Asia, 12% from Latin America, and 10% from Morocco and East Asia. Incidence rates of type 2 diabetes mellitus and prediabetes in these patients were 5.2 and 36.6%, respectively. In a multivariate analysis, non-Caucasian origin (OR=3.15, 95% CI [1.85-5.39]), recurrent gestational diabetes (OR=2.26, 95% CI [1.11-4.59]), and pre-pregnancy body mass index (OR=1.09, 95% CI [1.04-1.15]) were independent predictors of impaired glucose tolerance. Conclusions: In a multiethnic Spanish population of women with GDM, incidence of impaired glucose tolerance in the first year after delivery was 41.8%, with a three-fold increased risk for women of non-Caucasian ethnicity


Assuntos
Humanos , Feminino , Gravidez , Adulto , Diabetes Gestacional/sangue , Diabetes Gestacional/metabolismo , Diabetes Mellitus/sangue , Diabetes Mellitus/metabolismo , Glucose/metabolismo , Incidência , Espanha/etnologia , Estudos Retrospectivos , Estudos de Coortes , Diabetes Gestacional/etnologia , Diabetes Mellitus/etnologia , Estudos Prospectivos
5.
PLoS One ; 14(3): e0209125, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30893316

RESUMO

The Canary Islands' indigenous people have been the subject of substantial archaeological, anthropological, linguistic and genetic research pointing to a most probable North African Berber source. However, neither agreement about the exact point of origin nor a model for the indigenous colonization of the islands has been established. To shed light on these questions, we analyzed 48 ancient mitogenomes from 25 archaeological sites from the seven main islands. Most lineages observed in the ancient samples have a Mediterranean distribution, and belong to lineages associated with the Neolithic expansion in the Near East and Europe (T2c, J2a, X3a…). This phylogeographic analysis of Canarian ancient mitogenomes, the first of its kind, shows that some lineages are restricted to Central North Africa (H1cf, J2a2d and T2c1d3), while others have a wider distribution, including both West and Central North Africa, and, in some cases, Europe and the Near East (U6a1a1, U6a7a1, U6b, X3a, U6c1). In addition, we identify four new Canarian-specific lineages (H1e1a9, H4a1e, J2a2d1a and L3b1a12) whose coalescence dates correlate with the estimated time for the colonization of the islands (1st millennia CE). Additionally, we observe an asymmetrical distribution of mtDNA haplogroups in the ancient population, with certain haplogroups appearing more frequently in the islands closer to the continent. This reinforces results based on modern mtDNA and Y-chromosome data, and archaeological evidence suggesting the existence of two distinct migrations. Comparisons between insular populations show that some populations had high genetic diversity, while others were probably affected by genetic drift and/or bottlenecks. In spite of observing interinsular differences in the survival of indigenous lineages, modern populations, with the sole exception of La Gomera, are homogenous across the islands, supporting the theory of extensive human mobility after the European conquest.


Assuntos
Grupos Étnicos/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Mitocôndrias/genética , Migrantes/classificação , África do Norte/etnologia , Europa (Continente)/etnologia , Deriva Genética , Genética Populacional , Genoma Mitocondrial , Humanos , Oriente Médio , Filogeografia , Análise de Sequência de DNA , Espanha/etnologia
6.
Psychol Assess ; 31(5): 631-642, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30667265

RESUMO

The present study examined measurement invariance of the 48-item, 8-factor, Young Adult Alcohol Consequences Questionnaire (YAACQ) across nationality in college students from the United States, Spain, and Argentina. We also compared latent mean differences and criterion-related validity (i.e., correlation with other alcohol-related outcomes) across countries. Last month drinkers (1,511) from the United States (n = 774, 70.5% female), Argentina (n = 439, 50.6% female), and Spain (n = 298, 72.1% female) completed an online survey measuring alcohol use, drinking motives, college alcohol beliefs, and negative alcohol-related consequences. Multigroup confirmatory factor analyses supported configural and scalar invariance of a 47-item, 8-factor YAACQ across countries. Overall, the correlation analysis supported criterion-related validity (i.e., strong bivariate correlations between the 8 subscales and alcohol consumption, drinking motives and college alcohol beliefs) across countries. Some nonsignificant bivariate correlations and differences in the magnitude of the correlations across countries are discussed. Our findings expand previous work, mostly focused on U.S. samples, by supporting the YAACQ as an adequate measure to assess alcohol-related consequences in youths across countries marked by unique cultural traditions, attitudes, and policies pertaining to alcohol. (PsycINFO Database Record (c) 2019 APA, all rights reserved).


Assuntos
Consumo de Álcool na Faculdade/etnologia , Transtornos Relacionados ao Uso de Álcool/diagnóstico , Transtornos Relacionados ao Uso de Álcool/etnologia , Comparação Transcultural , Escalas de Graduação Psiquiátrica/normas , Psicometria/normas , Adulto , Argentina/etnologia , Feminino , Humanos , Masculino , Psicometria/instrumentação , Espanha/etnologia , Estudantes , Estados Unidos/etnologia , Universidades , Adulto Jovem
7.
J Pers Soc Psychol ; 116(4): 495-518, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30614727

RESUMO

We hypothesized that individuals in cultures typified by lower levels of relational mobility would tend to show more attention to the surrounding social and physical context (i.e., holistic vs. analytic thinking) compared with individuals in higher mobility cultural contexts. Six studies provided support for this idea. Studies 1a and 1b showed that differences in relational mobility in cultures as diverse as the U.S., Spain, Israel, Nigeria, and Morocco predicted patterns of dispositional bias as well as holistic (vs. analytic) attention. Study 2 demonstrated that, for Americans and Japanese, relational mobility offered better predictive validity of these cognitive tendencies than related cultural constructs; moreover, Studies 1b and 2 showed that relational mobility mediated cross-cultural differences in perception and attribution. Studies 3a and 3b showed that lower relational mobility induces a weaker sense of internal locus of control and a stronger sense of external locus of control, which led to more holistic (vs. analytic) cognition. Last, Study 4 replicated these results in an experimental setting and demonstrated the causal effect of relational mobility on analytic/holistic cognition. Overall, we suggest that relational mobility may be an important socioecological factor that can help explain robust cognitive differences observed across cultures. (PsycINFO Database Record (c) 2019 APA, all rights reserved).


Assuntos
Atenção , Cognição , Comparação Transcultural , Controle Interno-Externo , Relações Interpessoais , Pensamento , Adulto , Feminino , Humanos , Israel/etnologia , Japão/etnologia , Masculino , Pessoa de Meia-Idade , Marrocos/etnologia , Nigéria/etnologia , Percepção Social , Espanha/etnologia , Estados Unidos/etnologia
8.
Eur J Clin Invest ; 49(3): e13060, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30549264

RESUMO

BACKGROUND: Waist circumference has been suggested as predictor for metabolic syndrome (MetS) in adolescents but it has not been compared with newly proposed anthropometric indexes. This study aimed to disclose the capacity of ten classic and novel anthropometric indexes to discriminate by the presence of MetS in this young population. MATERIALS AND METHODS: A cross-sectional study was performed on 981 adolescents (13.2 ± 1.2 years) randomly recruited from eighteen schools in south-east Spain. Body fat percentage (BF%), abdominal volume index (AVI), body roundness index (BRI), body mass index (BMI), body adiposity index (BAI), body adiposity index for paediatrics (BAIp), conicity index (C-Index), waist circumference (WC), waist-to-hip ratio (WHR), waist-to-height ratio (WHtR) and body shape index (ABSI) were measured and calculated. Receiver-operator curves (ROC) were created to determine the discriminatory capacity of these anthropometric parameters for MetS. RESULTS: The prevalence of MetS was 7.0% for boys and 6.1% in girls. Participants with MetS had significantly higher levels of blood pressure and plasma levels of lipids, glucose and insulin. All anthropometric indexes were elevated in MetS individuals compared to the non-MetS group. AVI and WC showed the highest AUC values (0.83 for boys and 0.86 for girls). In contrast, according to ROC analyses, no anthropometric index was capable of discriminating the components of MetS (hypertension, hypertriglyceridemia, hyperglycaemia and low-HDL levels), except for abdominal obesity. CONCLUSION: We suggest the use of WC and AVI, with the cut-off points presented herein, for the discrimination between adolescents with or without MetS.


Assuntos
Abdome/anatomia & histologia , Síndrome Metabólica/diagnóstico , Circunferência da Cintura , Adiposidade/etnologia , Adolescente , Antropometria , Área Sob a Curva , Estudos Transversais , Diagnóstico Precoce , Feminino , Humanos , Masculino , Síndrome Metabólica/etnologia , Espanha/etnologia
9.
Arch Clin Neuropsychol ; 34(4): 435-444, 2019 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-30007334

RESUMO

OBJECTIVE: The University of Pennsylvania Smell Identification Test (UPSIT) is the most commonly used test to detect olfactory impairment in Parkinson's disease (PD), but the cut-off score for clinical purposes is often difficult to establish because of age and sex effects. The current work aims to study the sensitivity and specificity of the UPSIT Spanish version and its accuracy in discriminating PD patients at different age groups from healthy controls (HC), and to perform an item analysis. METHOD: Ninety-seven non-demented PD patients and 65 HC were assessed with the UPSIT Spanish version. Sensitivity, specificity, and diagnostic accuracy for PD were calculated. Multiple regression analysis was used to define predictors of UPSIT scores. RESULTS: Using the normative cut-off score for anosmia (≤18), the UPSIT showed a sensitivity of 54.6% with a specificity of 100.0% for PD. We found that, using the UPSIT cut-off score of ≤25, sensitivity was 81.4% and specificity 84.6% (area under the receiver operating characteristic curve = 0.908). Diagnosis and age were good predictors of UPSIT scores (B = -10.948; p < .001; B = -0.203; p < .001). When optimal cut-off scores were considered according to age ranges (≤60, 61-70, and ≥71), sensitivity and specificity values were >80.0% for all age groups. CONCLUSIONS: In the Spanish UPSIT version, sensitivity and specificity are improved when specific cut-off scores for different age groups are computed.


Assuntos
Testes Neuropsicológicos , Transtornos do Olfato/complicações , Transtornos do Olfato/diagnóstico , Doença de Parkinson/complicações , Doença de Parkinson/fisiopatologia , Traduções , Fatores Etários , Idoso , Estudos de Casos e Controles , Feminino , Hispano-Americanos , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos do Olfato/fisiopatologia , Percepção Olfatória/fisiologia , Sensibilidade e Especificidade , Espanha/etnologia
10.
Span J Psychol ; 21: E66, 2018 Dec 20.
Artigo em Inglês | MEDLINE | ID: mdl-30569885

RESUMO

The present work presents three studies that investigate the relationship between causal attributions of poverty in Africa, attitudes towards African immigrants and perspective-taking. The objective of preliminary study (N = 54) was to collect information to adapt the Perceived Causes of Third World Poverty Scale (Hine & Montiel, 1999), in the Spanish adaptation by Betancor et al. (2002) to Spanish adolescents. The Study 1 (N = 102) explores the factorial structure of the teenager questionnaire adaptation and to test the relationship with Modern Racism Scale (McConahay, 1986). Correlational analysis reflects the existence of a central element in the new forms of racism: Victim blaming through Personal Attributions of Poverty. The objective of Study 2 (N = 62) was to determine whether empathic induction through empathic perspective-taking (Batson et al., 1997) can ameliorate the individual's attributions of poverty concerning African immigrants among majority group members. However, the opposite effect was found, empathy induction increased Personal Attributions of poverty (η2 = .10). This effect was moderated by Modern Racism, simple slope test indicates t(52) = 2.49, p < .01, higher prejudiced participants increased Personal Attribution of poverty after empathic induction, blaming the victims for their situation.


Assuntos
Atitude/etnologia , Emigrantes e Imigrantes , Empatia , Pobreza/etnologia , Racismo/etnologia , Adolescente , Feminino , Humanos , Masculino , Espanha/etnologia
11.
Drug Alcohol Depend ; 192: 193-200, 2018 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-30268069

RESUMO

BACKGROUND: Previous research has identified different, but not mutually exclusive, etiological pathways (i.e., the positive affect regulation pathway, the negative affect regulation pathway and the deviance proneness pathway) to alcohol use and misuse in which personality characteristics play a key role. OBJECTIVES: The present study aimed to simultaneously and cross-culturally examine all these personality pathways to alcohol use in a large sample of young adult drinkers (N = 1280) from the US, Argentina, and Spain. METHOD: Structural equation modeling was conducted to test the models. Multi-group models were conducted to test model invariance across countries and gender groups. RESULTS: In the whole sample, low conscientiousness and extraversion were related to alcohol outcomes through enhancement drinking motives (i.e., positive affect regulation pathway), low emotional stability was related through coping drinking motives (i.e., negative affect regulation pathway), and low conscientiousness and low agreeableness were related through antisocial behavior (i.e., deviance proneness pathway). The model was invariant between gender groups. Some minor, yet significant, differences across countries arose. Specifically, antisocial behavior was a significant mediator of the association between agreeableness and alcohol use, but only in the US subsample. CONCLUSIONS: The present findings suggest that risky-personality pathways for alcohol use and alcohol-related problems may be generalized across gender groups and cultures in young adults.


Assuntos
Consumo de Bebidas Alcoólicas/etnologia , Alcoolismo/etnologia , Transtorno da Personalidade Antissocial/etnologia , Comparação Transcultural , Personalidade , Adolescente , Adulto , Consumo de Bebidas Alcoólicas/psicologia , Alcoolismo/diagnóstico , Alcoolismo/psicologia , Transtorno da Personalidade Antissocial/diagnóstico , Transtorno da Personalidade Antissocial/psicologia , Argentina/etnologia , Estudos Transversais , Feminino , Humanos , Masculino , Motivação/fisiologia , Personalidade/fisiologia , Comportamento Social , Espanha/etnologia , Inquéritos e Questionários , Estados Unidos/etnologia , Adulto Jovem
12.
Neurology ; 91(4): e339-e348, 2018 07 24.
Artigo em Inglês | MEDLINE | ID: mdl-29950440

RESUMO

OBJECTIVE: To describe a large series of BIN1 patients, in which a novel founder mutation in the Roma population of southern Spain has been identified. METHODS: Patients diagnosed with centronuclear myopathy (CNM) at 5 major reference centers for neuromuscular disease in Spain (n = 53) were screened for BIN1 mutations. Clinical, histologic, radiologic, and genetic features were analyzed. RESULTS: Eighteen patients from 13 families carried the p.Arg234Cys variant; 16 of them were homozygous for it and 2 had compound heterozygous p.Arg234Cys/p.Arg145Cys mutations. Both BIN1 variants have only been identified in Roma, causing 100% of CNM in this ethnic group in our cohort. The haplotype analysis confirmed all families are related. In addition to clinical features typical of CNM, such as proximal limb weakness and ophthalmoplegia, most patients in our cohort presented with prominent axial weakness, often associated with rigid spine. Severe fat replacement of paravertebral muscles was demonstrated by muscle imaging. This phenotype seems to be specific to the p.Arg234Cys mutation, not reported in other BIN1 mutations. Extreme clinical variability was observed in the 2 compound heterozygous patients for the p.Arg234Cys/p.Arg145Cys mutations, from a congenital onset with catastrophic outcome to a late-onset disease. Screening of European Roma controls (n = 758) for the p.Arg234Cys variant identified a carrier frequency of 3.5% among the Spanish Roma. CONCLUSION: We have identified a BIN1 founder Roma mutation associated with a highly specific phenotype, which is, from the present cohort, the main cause of CNM in Spain.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Efeito Fundador , Corpos de Mallory/patologia , Distrofias Musculares/genética , Mutação/genética , Miopatias Congênitas Estruturais/genética , Proteínas Nucleares/genética , Roma/genética , Escoliose/genética , Proteínas Supressoras de Tumor/genética , Adolescente , Adulto , Criança , Estudos de Coortes , Humanos , Corpos de Mallory/genética , Pessoa de Meia-Idade , Distrofias Musculares/diagnóstico por imagem , Distrofias Musculares/etnologia , Miopatias Congênitas Estruturais/diagnóstico por imagem , Miopatias Congênitas Estruturais/etnologia , Fenótipo , Estudos Prospectivos , Estudos Retrospectivos , Roma/etnologia , Escoliose/diagnóstico por imagem , Escoliose/etnologia , Espanha/etnologia , Adulto Jovem
13.
Epidemiol Infect ; 146(10): 1267-1274, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29848389

RESUMO

In Sweden, leishmaniasis is an imported disease and its epidemiology and incidence were not known until now. We conducted a retrospective, nationwide, epidemiological study from 1993 to 2016. Probable cases were patients with leishmaniasis diagnoses reported to the Swedish Patient registry, collecting data on admitted patients in Swedish healthcare since 1993 and out-patient visits since 2001. Confirmed cases were those with a laboratory test positive for leishmaniasis during 1993-2016. 299 probable cases and 182 confirmed cases were identified. Annual incidence ranged from 0.023 to 0.35 per 100 000 with a rapid increase in the last 4 years. Of 182 laboratory-verified cases, 96 were diagnosed from 2013 to 2016, and in this group, almost half of the patients were children under 18 years. Patients presented in different healthcare settings in all regions of Sweden. Cutaneous leishmaniasis was the most common clinical manifestation and the majority of infections were acquired in Asia including the Middle East, specifically Syria and Afghanistan. Leishmania tropica was responsible for the majority of cases (42%). A combination of laboratory methods increased the sensitivity of diagnosis among confirmed cases. In 2016, one-tenth of the Swedish population were born in Leishmania-endemic countries and many Swedes travel to these countries for work or vacation. Swedish residents who have spent time in Leishmania-endemic areas, could be at risk of developing disease some time during their lives. Increased awareness and knowledge are needed for correct diagnosis and management of leishmaniasis in Sweden.


Assuntos
Doenças Transmissíveis Importadas/epidemiologia , Doenças Transmissíveis Importadas/parasitologia , Leishmania tropica , Leishmaniose Cutânea/epidemiologia , Leishmaniose Cutânea/parasitologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Ásia/etnologia , Criança , Pré-Escolar , Doenças Transmissíveis Importadas/diagnóstico , Feminino , Grécia/etnologia , Humanos , Incidência , Lactente , Leishmaniose Cutânea/diagnóstico , Masculino , Pessoa de Meia-Idade , Sistema de Registros , Estudos Retrospectivos , América do Sul/etnologia , Espanha/etnologia , Suécia/epidemiologia , Viagem/estatística & dados numéricos , Trabalho/estatística & dados numéricos , Adulto Jovem
14.
J Am Soc Nephrol ; 29(7): 2000-2013, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29903748

RESUMO

Background Steroid-sensitive nephrotic syndrome (SSNS) is a childhood disease with unclear pathophysiology and genetic architecture. We investigated the genomic basis of SSNS in children recruited in Europe and the biopsy-based North American NEPTUNE cohort.Methods We performed three ancestry-matched, genome-wide association studies (GWAS) in 273 children with NS (Children Cohort Nephrosis and Virus [NEPHROVIR] cohort: 132 European, 56 African, and 85 Maghrebian) followed by independent replication in 112 European children, transethnic meta-analysis, and conditional analysis. GWAS alleles were used to perform glomerular cis-expression quantitative trait loci studies in 39 children in the NEPTUNE cohort and epidemiologic studies in GWAS and NEPTUNE (97 children) cohorts.Results Transethnic meta-analysis identified one SSNS-associated single-nucleotide polymorphism (SNP) rs1063348 in the 3' untranslated region of HLA-DQB1 (P=9.3×10-23). Conditional analysis identified two additional independent risk alleles upstream of HLA-DRB1 (rs28366266, P=3.7×10-11) and in the 3' untranslated region of BTNL2 (rs9348883, P=9.4×10-7) within introns of HCG23 and LOC101929163 These three risk alleles were independent of the risk haplotype DRB1*07:01-DQA1*02:01-DQB1*02:02 identified in European patients. Increased burden of risk alleles across independent loci was associated with higher odds of SSNS. Increased burden of risk alleles across independent loci was associated with higher odds of SSNS, with younger age of onset across all cohorts, and with increased odds of complete remission across histologies in NEPTUNE children. rs1063348 associated with decreased glomerular expression of HLA-DRB1, HLA-DRB5, and HLA-DQB1.Conclusions Transethnic GWAS empowered discovery of three independent risk SNPs for pediatric SSNS. Characterization of these SNPs provide an entry for understanding immune dysregulation in NS and introducing a genomically defined classification.


Assuntos
Antígenos HLA-DQ/genética , Antígenos HLA-DR/genética , Síndrome Nefrótica/etnologia , Síndrome Nefrótica/genética , Esteroides/uso terapêutico , África do Norte/etnologia , Grupo com Ancestrais do Continente Africano/genética , Alelos , Butirofilinas/genética , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos de Coortes , Grupo com Ancestrais do Continente Europeu/genética , Feminino , França/etnologia , Estudo de Associação Genômica Ampla , Cadeias beta de HLA-DQ/genética , Cadeias HLA-DRB1/genética , Cadeias HLA-DRB5/genética , Humanos , Itália/etnologia , Masculino , Síndrome Nefrótica/tratamento farmacológico , Fenótipo , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas , Espanha/etnologia
15.
Proc Natl Acad Sci U S A ; 115(26): 6774-6779, 2018 06 26.
Artigo em Inglês | MEDLINE | ID: mdl-29895688

RESUMO

The extent to which prehistoric migrations of farmers influenced the genetic pool of western North Africans remains unclear. Archaeological evidence suggests that the Neolithization process may have happened through the adoption of innovations by local Epipaleolithic communities or by demic diffusion from the Eastern Mediterranean shores or Iberia. Here, we present an analysis of individuals' genome sequences from Early and Late Neolithic sites in Morocco and from Early Neolithic individuals from southern Iberia. We show that Early Neolithic Moroccans (∼5,000 BCE) are similar to Later Stone Age individuals from the same region and possess an endemic element retained in present-day Maghrebi populations, confirming a long-term genetic continuity in the region. This scenario is consistent with Early Neolithic traditions in North Africa deriving from Epipaleolithic communities that adopted certain agricultural techniques from neighboring populations. Among Eurasian ancient populations, Early Neolithic Moroccans are distantly related to Levantine Natufian hunter-gatherers (∼9,000 BCE) and Pre-Pottery Neolithic farmers (∼6,500 BCE). Late Neolithic (∼3,000 BCE) Moroccans, in contrast, share an Iberian component, supporting theories of trans-Gibraltar gene flow and indicating that Neolithization of North Africa involved both the movement of ideas and people. Lastly, the southern Iberian Early Neolithic samples share the same genetic composition as the Cardial Mediterranean Neolithic culture that reached Iberia ∼5,500 BCE. The cultural and genetic similarities between Iberian and North African Neolithic traditions further reinforce the model of an Iberian migration into the Maghreb.


Assuntos
Grupos Étnicos/genética , Genoma Humano , Migração Humana/história , África do Norte , Agricultura/história , Cromossomos Humanos Y/genética , DNA Mitocondrial/genética , Grupos Étnicos/história , Europa (Continente) , Fluxo Gênico , Biblioteca Gênica , Genética Populacional , História Antiga , Humanos , Oriente Médio , Marrocos , Análise de Sequência de DNA , Espanha/etnologia
16.
Artigo em Inglês | MEDLINE | ID: mdl-29695089

RESUMO

Safety during birth has improved since hospital delivery became standard practice, but the process has also become increasingly medicalised. Hence, recent years have witnessed a growing interest in home births due to the advantages it offers to mothers and their newborn infants. The aims of the present study were to confirm the transition from a home birth model of care to a scenario in which deliveries began to occur almost exclusively in a hospital setting; to define the social networks surrounding home births; and to determine whether geography exerted any influence on the social networks surrounding home births. Adopting a qualitative approach, we recruited 19 women who had given birth at home in the mid 20th century in a rural area in Spain. We employed a social network analysis method. Our results revealed three essential aspects that remain relevant today: the importance of health professionals in home delivery care, the importance of the mother’s primary network, and the influence of the geographical location of the actors involved in childbirth. All of these factors must be taken into consideration when developing strategies for maternal health.


Assuntos
Parto Domiciliar/estatística & dados numéricos , Serviços de Saúde Materno-Infantil , Mães , Rede Social , Adulto , Antropologia Cultural , Feminino , Parto Domiciliar/psicologia , Humanos , Lactente , Recém-Nascido , Tocologia , Mães/psicologia , Gravidez , Estudos Retrospectivos , Espanha/etnologia
17.
Acta Psychol (Amst) ; 186: 63-70, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29704743

RESUMO

The information we obtain from how speakers sound-for example their accent-affects how we interpret the messages they convey. A clear example is foreign accented speech, where reduced intelligibility and speaker's social categorization (out-group member) affect memory and the credibility of the message (e.g., less trustworthiness). In the present study, we go one step further and ask whether evaluations of messages are also affected by regional accents-accents from a different region than the listener. In the current study, we report results from three experiments on immediate memory recognition and immediate credibility assessments as well as the illusory truth effect. These revealed no differences between messages conveyed in local-from the same region as the participant-and regional accents-from native speakers of a different country than the participants. Our results suggest that when the accent of a speaker has high intelligibility, social categorization by accent does not seem to negatively affect how we treat the speakers' messages.


Assuntos
Comparação Transcultural , Linguagem , Memória/fisiologia , Fonética , Percepção da Fala/fisiologia , Adolescente , Adulto , Cognição/fisiologia , Cuba/etnologia , Feminino , Humanos , Masculino , América do Sul/etnologia , Espanha/etnologia , Fala/fisiologia , Adulto Jovem
18.
Transcult Psychiatry ; 55(2): 261-285, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29508639

RESUMO

Though problematic hoarding is believed to be a universal human behavior, investigations of clinically-defined hoarding disorder (HD) have been confined almost exclusively to Western countries. The current investigation sought to describe and directly compare the features of individuals meeting diagnostic criteria for HD across four distinct cultural settings. Participants were 82 individuals meeting DSM-5 diagnostic criteria for HD, recruited and assessed by trained clinicians at one of four project sites: London, Barcelona, Fukuoka, and Rio de Janeiro. A series of semi-structured interviews and self-report scales were administered, including assessments of socio-demographic characteristics, psychiatric comorbidity, and severity of hoarding and related features. Results indicate that the severity and core features of HD, as well as the cognitions and behaviors commonly associated with this condition, are largely stable across cultures. However, some differences in patient demographics-in particular age, marital status, and clinical expression-as well as comorbid psychiatric features also emerged. These findings confirm that HD, as defined in DSM-5, exists and presents with similar phenomenology across the studied cultures. Future, more fine-grained, research will be needed to study the features of the disorder in additional cultures (e.g., non-industrialized nations) and to evaluate the impact of these cultural aspects on the design of interventions for the disorder.


Assuntos
Comparação Transcultural , Transtorno de Acumulação/etnologia , Adulto , Idoso , Brasil/etnologia , Feminino , Humanos , Japão/etnologia , Masculino , Pessoa de Meia-Idade , Espanha/etnologia , Reino Unido/etnologia
19.
Health Policy ; 122(4): 444-451, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29548514

RESUMO

Roma health inequities are a wicked problem. Despite concerted efforts to reduce them under the Decade of Roma Inclusion initiative, the health gap between Roma and non-Roma populations in Europe persists. To address this problem, the European Commission devised the National Roma Integration Strategies (NRIS). This paper provides a critical assessment of the implementation of the NRIS' health strand (NRIS-H) in Spain and proposes an evaluation tool to monitor Roma health policies - the Roma Health Integration Policy Index (RHIPEX). It also makes recommendations to promote Roma health governance. To achieve these goals, four community forums, 33 stakeholder interviews and a scoping review were conducted. Results show that the NRIS-H implementation is hindered by lack of political commitment and poor resource allocation. This has a negative impact on Roma's entitlement to healthcare and on their participation in decision-making processes, jeopardising the elimination of the barriers that undermine their access to healthcare and potentially contributing to reproduce inequalities. These unintended effects point out the need to rethink Roma health governance by strengthening intersectional and intersectoral policies, enabling transformative Roma participation in policymaking and guaranteeing shared socio-political responsibility and accountability.


Assuntos
Política de Saúde , Disparidades nos Níveis de Saúde , Formulação de Políticas , Roma/etnologia , Acesso aos Serviços de Saúde , Humanos , Entrevistas como Assunto , Política , Alocação de Recursos/economia , Espanha/etnologia
20.
J Ethnopharmacol ; 219: 133-151, 2018 Jun 12.
Artigo em Inglês | MEDLINE | ID: mdl-29551452

RESUMO

ETHNOPHARMACOLOGICAL RELEVANCE: The different species of the genus Datura have been used traditionally by some pre-Columbian civilizations, as well as in medieval rituals linked to magic and witchcraft in both Mexico and Europe. It is also noteworthy the use of different alkaloids obtained from the plants for medicinal purposes in the treatment of various groups of diseases, especially of the respiratory and muscularskeletal systems. AIM OF THE STUDY: A review of the ethnobotanical uses of the genus Datura in Mexico and Spain has been conducted. We focus on the medicinal and ritualistic uses included in modern ethnobotanical studies, emphasizing the historical knowledge from post-colonial American Codices and medieval European texts. Datura's current social emergency as a drug of recreation and leisure, as well as its link to crimes of sexual abuse is also considered. The work is completed with some notes about the distribution and ecology of the different species and a phytochemical and pharmacological review of Datura alkaloids, necessary to understand their arrival in Europe and the ethnobotanical uses made since then MATERIALS AND METHODS: A literature review and compilation of information on traditional medicinal uses of the genus has been carried out from the main electronic databases. Traditional volumes (codices) have also been consulted in libraries of different institutions. Consultations have been made with the National Toxicological Services of Spain and Mexico for toxicological data. RESULTS: A total of 118 traditional uses were collected in both territories, 111 medicinal ones to be applied in 76 conditions or symptoms included in 13 pathological groups. Although there are particular medicinal uses in the two countries, we found up to 15 similar uses, of which 80% were previously mentioned in post-Colonial American codices. Applications in the treatment of asthma and rheumatism are also highlighted. Apart from medicinal uses, it is worth noting their cultural and social uses, in the case of Mexico relating to diseases such as being scared, astonishment or falling in love, and in the case of Spain, as a recreational drug and lately, for criminal purposes. CONCLUSIONS: This review highlights the variety of uses traditionally given to the different species in both territories. The fact that most of the coincident or similar uses in both countries also appear in the classical codices can be found an example of the flow, not only of the plants from America to Europe, but also of their associated information. It is also relevant that particular uses have derived in both countries, reflecting the difference in the cultural factors and traditions linked to rituals and cultural practices. Finally, the significant growth of Datura consumption in recent years as a drug of leisure and recreation, as well as in crimes of sexual submission, should be considered as research of maximum relevance in the field of forensic botany and toxicology.


Assuntos
Datura , Etnobotânica/métodos , Medicina Tradicional/métodos , Extratos Vegetais/uso terapêutico , Animais , Datura/genética , Etnobotânica/tendências , Humanos , /isolamento & purificação , Medicina Tradicional/tendências , México/etnologia , Extratos Vegetais/química , Extratos Vegetais/isolamento & purificação , Transtornos Respiratórios/tratamento farmacológico , Transtornos Respiratórios/etnologia , Solanaceae/genética , Espanha/etnologia , Especificidade da Espécie
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