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1.
J Speech Lang Hear Res ; : 1-20, 2024 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-38754039

RESUMO

PURPOSE: Cross-language studies suggest more similarities than differences in how dysarthria affects the speech of people with Parkinson's disease (PwPD) who speak different languages. In this study, we aimed to identify the relative contribution of acoustic variables to distinguish PwPD from controls who spoke varieties of two Romance languages, French and Portuguese. METHOD: This bi-national, cross-sectional, and case-controlled study included 129 PwPD and 124 healthy controls who spoke French or Portuguese. All participants underwent the same clinical examinations, voice/speech recordings, and self-assessment questionnaires. PwPD were evaluated off and on optimal medication. Inferential analyses included Disease (controls vs. PwPD) and Language (French vs. Portuguese) as factors, and random decision forest algorithms identified relevant acoustic variables able to distinguish participants: (a) by language (French vs. Portuguese) and (b) by clinical status (PwPD on and off medication vs. controls). RESULTS: French-speaking and Portuguese-speaking individuals were distinguished from each other with over 90% accuracy by five acoustic variables (the mean fundamental frequency and the shimmer of the sustained vowel /a/ production, the oral diadochokinesis performance index, the relative sound level pressure and the relative sound pressure level standard deviation of the text reading). A distinct set of parameters discriminated between controls and PwPD: for men, maximum phonation time and the oral diadochokinesis speech proportion were the most significant variables; for women, variables calculated from the oral diadochokinesis were the most discriminative. CONCLUSIONS: Acoustic variables related to phonation and voice quality distinguished between speakers of the two languages. Variables related to pneumophonic coordination and articulation rate were the more effective in distinguishing PwPD from controls. Thus, our research findings support that respiration and diadochokinesis tasks appear to be the most appropriate to pinpoint signs of dysarthria, which are largely homogeneous and language-universal. In contrast, identifying language-specific variables with the speech tasks and acoustic variables studied was less conclusive.

2.
J Appl Res Intellect Disabil ; 33(6): 1500-1511, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32627311

RESUMO

BACKGROUND: ETAP-1 was created to evaluate the quality of services trajectory from families' perspective. The items of ETAP-1 were developed from previous studies on integrated care, existing quality assessments, and consultations with families and experts in evaluation and in autism spectrum disorder (ASD). METHOD: The questionnaire was completed by 200 parents of children aged 5 and under who were recently diagnosed with ASD or intellectual disability. Of these, 183 received diagnostic evaluation through a clinic specialized in ASD; the other 17 underwent diagnostic evaluation in hospital settings. RESULTS: Factor analysis supported the a priori dimensions of quality and distinctions between experiences before and during diagnostic evaluation. The instrument had high internal consistency, convergent and discriminant validity with other measures and was sensitive to differences in service delivery models. DISCUSSION: ETAP-1 is useful in organizing information on families' experiences throughout their services trajectories and according to a dynamic perspective.


Assuntos
Transtorno do Espectro Autista , Deficiência Intelectual , Transtorno do Espectro Autista/diagnóstico , Criança , Análise Fatorial , Humanos , Pais , Inquéritos e Questionários
3.
Mol Ecol ; 29(16): 3144-3154, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32654383

RESUMO

Knowledge of how animal species use food resources available in the environment can increase our understanding of many ecological processes. However, obtaining this information using traditional methods is difficult for species feeding on a large variety of food items in highly diverse environments. We amplified the DNA of plants for 306 scat and 40 soil samples, and applied an environmental DNA metabarcoding approach to investigate food preferences, degree of diet specialization and diet overlap of seven herbivore rodent species of the genus Ctenomys distributed in southern and midwestern Brazil. The metabarcoding approach revealed that these species consume more than 60% of the plant families recovered in soil samples, indicating generalist feeding habits of ctenomyids. The family Poaceae was the most common food resource retrieved in scats of all species as well in soil samples. Niche overlap analysis indicated high overlap in the plant families and molecular operational taxonomic units consumed, mainly among the southern species. Interspecific differences in diet composition were influenced, among other factors, by the availability of resources in the environment. In addition, our results provide support for the hypothesis that the allopatric distributions of ctenomyids allow them to exploit the same range of resources when available, possibly because of the absence of interspecific competition.


Assuntos
Código de Barras de DNA Taxonômico , Roedores , Animais , Brasil , Dieta , Herbivoria , Roedores/genética
4.
Am J Intellect Dev Disabil ; 124(6): 535-548, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31756145

RESUMO

The present study investigated family quality of life (FQOL) as experienced by 493 mothers and fathers (295 families) of young children with autism spectrum disorder (ASD) prior to receiving early intervention services in the province of Québec. These families were most satisfied with their physical and material well-being and least satisfied with their family interactions. Children's level of functioning across various standardized and subjective measures were positively associated with parents' FQOL. In both parents, family characteristics associated with financial and personal resources were also linked to FQOL. The child's age and the number of children were associated with mothers' FQOL. Overall, these findings provide a portrait of ASD-related stressors and resources relevant to both parents during the early childhood period.


Assuntos
Transtorno do Espectro Autista/enfermagem , Família/psicologia , Qualidade de Vida/psicologia , Adulto , Transtorno do Espectro Autista/fisiopatologia , Pré-Escolar , Feminino , Humanos , Masculino
5.
Lancet ; 393(10191): 2591-2598, 2019 06 29.
Artigo em Inglês | MEDLINE | ID: mdl-31178155

RESUMO

BACKGROUND: In 2013, the interim analysis of the Protocol for Herceptin as Adjuvant therapy with Reduced Exposure (PHARE) trial could not show that 6 months of adjuvant trastuzumab was non-inferior to 12 months. Here, we report the planned final analysis based on the prespecified number of occurring events. METHODS: PHARE is an open-label, phase 3, non-inferiority randomised trial of patients with HER2-positive early breast cancer comparing 6 months versus 12 months of trastuzumab treatment concomitant with or following standard neoadjuvant or adjuvant chemotherapy. The study was undertaken in 156 centres in France. Eligible patients were women aged 18 years or older with non-metastatic, operable, histologically confirmed adenocarcinoma of the breast and either positive axillary nodes or negative axillary nodes but a tumour of at least 10 mm. Participants must have received at least four cycles of a chemotherapy for this breast cancer and have started receiving adjuvant trastuzumab-treatment. Eligible patients were randomly assigned to either 6 months or 12 months of trastuzumab therapy duration between the third and sixth months of adjuvant trastuzumab. The randomisation was stratified by concomitant or sequential treatment with chemotherapy, oestrogen receptor status, and centre. The primary objective was non-inferiority in the intention-to-treat population in the 6-month group in terms of disease-free survival with a prespecified hazard margin of 1·15. This trial is registered with ClinicalTrials.gov, number NCT00381901. FINDINGS: 3384 patients were enrolled and randomly assigned to either 12 months (n=1691) or 6 months (n=1693) of adjuvant trastuzumab. One patient in the 12-month group and three patients in the 6-month group were excluded, so 1690 patients in each group were included in the intention-to-treat analysis. At a median follow-up of 7·5 years (IQR 5·3-8·8), 704 events relevant to disease-free survival were observed (345 [20·4%] in the 12-month group and 359 [21·2%] in the 6-month group). The adjusted hazard ratio for disease-free survival in the 12-month group versus the 6-month group was 1·08 (95% CI 0·93-1·25; p=0·39). The non-inferiority margin was included in the 95% CI. No differences in effects pertaining to trastuzumab duration were found in any of the subgroups. After the completion of trastuzumab treatment, rare adverse events occurred over time and the safety analysis remained similar to the previously published report. In particular, we found no change in the cardiac safety comparison, and only three additional cases in which the left ventricular ejection fraction decreased to less than 50% have been reported in the 12-month group. INTERPRETATION: The PHARE study did not show the non-inferiority of 6 months versus 12 months of adjuvant trastuzumab. Hence, adjuvant trastuzumab standard duration should remain 12 months. FUNDING: The French National Cancer Institute.


Assuntos
Antineoplásicos Imunológicos/administração & dosagem , Neoplasias da Mama/tratamento farmacológico , Trastuzumab/administração & dosagem , Adulto , Idoso , Antineoplásicos Imunológicos/efeitos adversos , Neoplasias da Mama/metabolismo , Quimioterapia Adjuvante , Esquema de Medicação , Feminino , França , Humanos , Infusões Intravenosas , Pessoa de Meia-Idade , Receptor ErbB-2/metabolismo , Análise de Sobrevida , Trastuzumab/efeitos adversos , Resultado do Tratamento , Adulto Jovem
6.
Behav Modif ; 43(4): 490-517, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-29726269

RESUMO

The effectiveness of early intensive behavioral intervention (EIBI) for children with autism spectrum disorders (ASDs) has been demonstrated by many studies and meta-analyses. Although it is considered an exemplary practice in several countries, few studies have investigated the maintenance of gains made in EIBI over time. Thirty-two children were assessed at posttreatment and 1-year follow-up after they attended a low-to-moderate-intensity (10 to 20 hr per week) EIBI program delivered by a public rehabilitation center. Between baseline and posttreatment, children showed significant gains in most areas of intellectual functioning and a significant decrease of autism symptom severity, but no change in adaptive behavior. Gains in intellectual functioning were maintained over a 1-year period after treatment termination, but autism symptom severity had increased to approximately pretreatment levels during that interval. Considerable individual variability was noted in the evolution of outcomes.


Assuntos
Transtorno do Espectro Autista/psicologia , Transtorno do Espectro Autista/terapia , Terapia Comportamental , Intervenção Médica Precoce , Adaptação Psicológica , Transtorno do Espectro Autista/diagnóstico , Pré-Escolar , Feminino , Seguimentos , Humanos , Individualidade , Inteligência , Masculino
7.
BMC Vet Res ; 14(1): 345, 2018 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-30442129

RESUMO

BACKGROUND: Avoidance of antigenic stimuli was found to significantly reverse airway obstruction of horses with severe equine asthma (sEA). To date, no published study investigated the influence of steaming hay on lower airway condition of sEA-affected horses. The objectives were to determine the clinical, cytological and cytokine respiratory responses of both sEA and control (CTL) horses experimentally exposed to steamed or dry hay. RESULTS: A cohort of 6 sEA horses and 6 CTL horses was involved in this field study. On day 0, both groups were fed with steamed hay for 5 consecutive days, followed by a wash-out period of 26 days prior to be fed with dry hay for 5 consecutive days. Investigations performed 2 days prior to and 5 days after each challenge included clinical score, tracheal mucus accumulation, and bronchoalveolar lavage fluid (BALF) cytology and cytokine mRNA expression. Feeding steamed hay significantly decreased its mould content (P < 0.001). Mucus score significantly increased when feeding dry hay (P = 0.01). No significant influence of challenge type was found on clinical score. Percentages of neutrophils (P < 0.001) as well as mRNA expression of IL-1ß (P = 0.024), IL-6R (P = 0.021), IL-18 (P = 0.009) and IL-23 (P = 0.036) in BALF of sEA affected horses were significantly increased after both (steamed and dry hay) challenges. Relative mRNA expression of IL-1ß, IL-6R and IL-23 in BALF were also significantly correlated to neutrophil percentages and both clinical and tracheal mucus score. CONCLUSIONS: Steaming significantly decreased mould content but inconsistently influenced the respiratory response of sEA affected horses when fed hay. Based on BALF cytology and cytokine profiles, its relevance might be controversial as a non-medicinal therapy for sEA-affected horses.


Assuntos
Ração Animal , Asma/veterinária , Doenças dos Cavalos/prevenção & controle , Microbiologia do Ar , Ração Animal/efeitos adversos , Animais , Asma/etiologia , Asma/imunologia , Asma/prevenção & controle , Líquido da Lavagem Broncoalveolar/química , Líquido da Lavagem Broncoalveolar/citologia , Citocinas/metabolismo , Feminino , Doenças dos Cavalos/etiologia , Doenças dos Cavalos/imunologia , Cavalos/imunologia , Masculino , Vapor , Traqueia/metabolismo
8.
Breast ; 41: 1-7, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29913374

RESUMO

BACKGROUND: Cardiac toxicity with a decrease of the left ventricular ejection fraction (LVEF) is the main side effect induced by trastuzumab. This study reports the fluctuation of LVEF over the 12 months of adjuvant trastuzumab in PHARE trial (NCT00381901). METHODS: LVEF assessment was performed every 3 months while patients received trastuzumab and after completion of treatment over the first 2 years and then every 6 months afterwards. The fluctuations of LVEF over time were described and a logistic regression model was performed investigating associated factors to LVEF perfect recovery at baseline value. RESULTS: A total of 1631 patients who received 12 months of trastuzumab from PHARE trial, were considered in the analysis. A total of 13 881 LVEF measurements were assessed. Baseline mean LVEF was 66.08% (standard error (SE): 0.15) and the mean relative LVEF decrease observed at 12-month was 3.61% (SE: 0.31). No clinical characteristic was significantly associated to LVEF fluctuation. After completion of trastuzumab, the relative difference progressively disappeared with beyond 30 months a relative difference value of 0.08% (SE: 0.42). Nevertheless, at 30 months, 48.53% of patients with available measures (379/781) did not fully recover their baseline LVEF value. CONCLUSION: The LVEF decreased during treatment with trastuzumab and rose up after the completion of treatment without coming back to the initial values for a substantial subset. These results would suggest investigating some strategies aimed to improve the ability to achieve a full recovery.


Assuntos
Antineoplásicos Imunológicos/efeitos adversos , Neoplasias da Mama/tratamento farmacológico , Trastuzumab/administração & dosagem , Função Ventricular Esquerda/efeitos dos fármacos , Adulto , Antineoplásicos Imunológicos/uso terapêutico , Neoplasias da Mama/genética , Cardiotoxicidade/etiologia , Quimioterapia Adjuvante , Ecocardiografia , Feminino , Seguimentos , Humanos , Pessoa de Meia-Idade , Receptor ErbB-2/genética , Trastuzumab/uso terapêutico
9.
Can Vet J ; 58(9): 926-930, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28878415

RESUMO

This report describes a rare case of gastric impaction caused by a trichophytobezoar in a foal. This case highlights the difficulty in diagnosing this condition and reports surgical removal via a gastrotomy after failure of medical treatment.


Ablation chirurgicale d'un trichophytobézoar gastrique chez un poulain. Ce rapport décrit un rare cas d'obstruction gastrique causé par un trichophytobézoar chez un poulain. Ce cas souligne la difficulté à diagnostiquer cette affection et fait rapport sur l'ablation chirurgicale lors d'une gastrotomie après l'échec du traitement médical.(Traduit par Isabelle Vallières).


Assuntos
Bezoares/cirurgia , Cavalos , Estômago/patologia , Animais , Estômago/cirurgia
10.
Breast Cancer Res ; 19(1): 98, 2017 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-28830573

RESUMO

BACKGROUND: Genome-wide association studies (GWAS) have to date identified 94 genetic variants (single nucleotide polymorphisms (SNPs)) associated with risk of developing breast cancer. A score based on the combined effect of the 94 risk alleles can be calculated to measure the global risk of breast cancer. We aimed to test the hypothesis that the 94-SNP-based risk score is associated with clinico-pathological characteristics, breast cancer subtypes and outcomes in early breast cancer. METHODS: A 94-SNP risk score was calculated in 8703 patients in the PHARE and SIGNAL prospective case cohorts. This score is the total number of inherited risk alleles based on 94 selected SNPs. Clinical data and outcomes were prospectively registered. Genotyping was obtained from a GWAS. RESULTS: The median 94-SNP risk score in 8703 patients with early breast cancer was 77.5 (range: 58.1-97.6). The risk score was not associated with usual prognostic and predictive factors (age; tumor, node, metastasis (TNM) status; Scarff-Bloom-Richardson grade; inflammatory features; estrogen receptor status; progesterone receptor status; human epidermal growth factor receptor 2 (HER2) status) and did not correlate with breast cancer subtypes. The 94-SNP risk score did not predict outcomes represented by overall survival or disease-free survival. CONCLUSIONS: In a prospective case cohort of 8703 patients, a risk score based on 94 SNPs was not associated with breast cancer characteristics, cancer subtypes, or patients' outcomes. If we hypothesize that prognosis and subtypes of breast cancer are determined by constitutional genetic factors, our results suggest that a score based on breast cancer risk-associated SNPs is not associated with prognosis. TRIAL REGISTRATION: PHARE cohort: NCT00381901 , Sept. 26, 2006 - SIGNAL cohort: INCa RECF1098, Jan. 28, 2009.


Assuntos
Neoplasias da Mama/genética , Neoplasias da Mama/mortalidade , Estudos de Associação Genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Biomarcadores Tumorais , Neoplasias da Mama/patologia , Ensaios Clínicos Fase III como Assunto , Estudos de Coortes , Feminino , Genótipo , Humanos , Pessoa de Meia-Idade , Gradação de Tumores , Metástase Neoplásica , Estadiamento de Neoplasias , Prognóstico , Ensaios Clínicos Controlados Aleatórios como Assunto , Análise de Sobrevida , Carga Tumoral , Adulto Jovem
11.
Am J Intellect Dev Disabil ; 122(5): 439-452, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28846039

RESUMO

The Beach Center Family Quality of Life Scale (Beach Center FQOL) is used to evaluate and develop family-centered intervention services. However, its use with families of children with autism spectrum disorder (ASD) and in non-English speaking populations requires further investigation. The present study sought to assess the psychometric properties of a French translation of this scale on 452 parents of children aged 5 and under who were recently diagnosed with ASD. The resulting Satisfaction and Importance scales presented excellent internal consistency at the scale level and acceptable internal consistency at the subscale level. Theoretical model positing 5 dimensions of FQOL generally fit the data acceptably. Satisfaction ratings were found to be sensitive to changes and were negatively correlated with parenting stress.


Assuntos
Transtorno do Espectro Autista , Família/psicologia , Poder Familiar/psicologia , Psicometria/normas , Qualidade de Vida/psicologia , Estresse Psicológico/psicologia , Adulto , Transtorno do Espectro Autista/enfermagem , Pré-Escolar , Feminino , Humanos , Masculino , Pais/psicologia , Psicometria/instrumentação , Quebeque , Estresse Psicológico/diagnóstico
12.
Eur J Cancer ; 81: 151-160, 2017 08.
Artigo em Inglês | MEDLINE | ID: mdl-28624696

RESUMO

AIM: Adjuvant clinical trials in early human epidermal growth factor receptor 2 (HER2)-positive breast cancer have assessed either sequential or concomitant incorporation of trastuzumab with chemotherapy; only the North Central Cancer Treatment Group (NCCTG)-N9831 trial prospectively compared both modalities. In routine trastuzumab has been incorporated into a concurrent regimen with taxane chemotherapy instead of sequential modality on the basis of a positive risk-benefit ratio. This present study assessed sequential versus concomitant administration of adjuvant trastuzumab. METHODS: A population combining patients from Protocol for Herceptin® as Adjuvant therapy with Reduced Exposure (PHARE) a randomised phase III clinical trial (NCT00381901) and SIGNAL (RECF1098) a prospective study specifically designed for Genome-wide Association Studies (GWAS) analyses was studied. In this cohort with 58 months of median follow-up, the comparison in the HER2-positive group of adjuvant trastuzumab and chemotherapy modalities was based on a propensity score methodology. Treatment modalities were based on physician's choice and comparisons adjustment were made by a propensity score methodology. Overall Survival (OS) and Disease-Free Survival (DFS) were estimated using the Kaplan-Meier method, and comparisons between groups were based on the log rank test. RESULTS: The SIGNAL/PHARE cohort included 11,728 breast cancer cases treated in adjuvant setting; some 5502 of them with HER2-positive tumour: 34.5% (1897/5502) were treated by sequential and 65.5% (3605/5502) by concomitant modality of administration for taxane-chemotherapy and trastuzumab. The adjusted comparison found similar OS (HR = 1.01; 95% CI: 0.86-1.19) and similar DFS (HR = 1.08; 95% CI: 0.96-1.21). CONCLUSION: These results suggest that the sequential administration of trastuzumab given after the completion of adjuvant chemotherapy might be as valid as the concomitant administration of trastuzumab and taxane chemotherapy in the adjuvant setting.


Assuntos
Antineoplásicos/administração & dosagem , Neoplasias da Mama/tratamento farmacológico , Trastuzumab/administração & dosagem , Adulto , Idoso , Neoplasias da Mama/metabolismo , Quimioterapia Adjuvante , Terapia Combinada , Feminino , Humanos , Estimativa de Kaplan-Meier , Pessoa de Meia-Idade , Estudos Prospectivos , Receptor ErbB-2/antagonistas & inibidores , Receptor ErbB-2/metabolismo
13.
NPJ Breast Cancer ; 3: 4, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28649644

RESUMO

Human epidermal growth factor receptor 2-positive breast cancer is a subtype of interest regarding its outcome and the impressive impact of human epidermal growth factor receptor 2 targeted therapy. Constitutional variants may be involved in the aetiology of human epidermal growth factor receptor 2-positive breast cancer, and we propose a case-case study to test the hypothesis that single nucleotide polymorphisms may be associated with human epidermal growth factor receptor 2 status. A Genome-Wide Association Study was used in a cohort of 9836 patients from the SIGNAL/PHARE study (NCT00381901-RECF1098). The main goal was to identify variants specifically related to human epidermal growth factor receptor 2-positive breast cancer. A two-staged genotyping strategy was carried out to cover as large a proportion of the genome as possible. All subjects were genotyped using the Illumina HumanCore Exome chip set. Principal Components Analysis and k-means were then used to characterize the ancestry of the participants. A random sample of subjects from the main "European" cluster was genotyped with the Omni5 chip set. These data were then used to impute missing genotypes from the remaining subjects genotyped only using the HumanCore Exome array. From the 9836 patients, a total of 8703 cases including 3230 patients with human epidermal growth factor receptor 2-positive breast cancer were analyzed. Despite having 80% power to detect an odds ratio of 1.23 in this population, no variant achieved genome-wide significance for association with the occurrence of human epidermal growth factor receptor 2-positive breast cancer vs. any other subtype of breast tumour. Our study was unable to identify constitutional polymorphisms that are strongly associated with human epidermal growth factor receptor 2-positive status among breast cancer patients.

14.
mSystems ; 1(1)2016.
Artigo em Inglês | MEDLINE | ID: mdl-27822515

RESUMO

Sequence clustering is a common early step in amplicon-based microbial community analysis, when raw sequencing reads are clustered into operational taxonomic units (OTUs) to reduce the run time of subsequent analysis steps. Here, we evaluated the performance of recently released state-of-the-art open-source clustering software products, namely, OTUCLUST, Swarm, SUMACLUST, and SortMeRNA, against current principal options (UCLUST and USEARCH) in QIIME, hierarchical clustering methods in mothur, and USEARCH's most recent clustering algorithm, UPARSE. All the latest open-source tools showed promising results, reporting up to 60% fewer spurious OTUs than UCLUST, indicating that the underlying clustering algorithm can vastly reduce the number of these derived OTUs. Furthermore, we observed that stringent quality filtering, such as is done in UPARSE, can cause a significant underestimation of species abundance and diversity, leading to incorrect biological results. Swarm, SUMACLUST, and SortMeRNA have been included in the QIIME 1.9.0 release. IMPORTANCE Massive collections of next-generation sequencing data call for fast, accurate, and easily accessible bioinformatics algorithms to perform sequence clustering. A comprehensive benchmark is presented, including open-source tools and the popular USEARCH suite. Simulated, mock, and environmental communities were used to analyze sensitivity, selectivity, species diversity (alpha and beta), and taxonomic composition. The results demonstrate that recent clustering algorithms can significantly improve accuracy and preserve estimated diversity without the application of aggressive filtering. Moreover, these tools are all open source, apply multiple levels of multithreading, and scale to the demands of modern next-generation sequencing data, which is essential for the analysis of massive multidisciplinary studies such as the Earth Microbiome Project (EMP) (J. A. Gilbert, J. K. Jansson, and R. Knight, BMC Biol 12:69, 2014, http://dx.doi.org/10.1186/s12915-014-0069-1).

15.
BMJ Open ; 6(11): e012885, 2016 11 17.
Artigo em Inglês | MEDLINE | ID: mdl-27856480

RESUMO

INTRODUCTION: Individuals with Parkinson's disease (PD) have to deal with several aspects of voice and speech decline and thus alteration of communication ability during the course of the disease. Among these communication impairments, 3 major challenges include: (1) dysarthria, consisting of orofacial motor dysfunction and dysprosody, which is linked to the neurodegenerative processes; (2) effects of the pharmacological treatment, which vary according to the disease stage; and (3) particular speech modifications that may be language-specific, that is, dependent on the language spoken by the patients. The main objective of the FraLusoPark project is to provide a thorough evaluation of changes in PD speech as a result of pharmacological treatment and disease duration in 2 different languages (French vs European Portuguese). METHODS AND ANALYSIS: Individuals with PD are enrolled in the study in France (N=60) and Portugal (N=60). Their global motor disability and orofacial motor functions is assessed with specific clinical rating scales, without (OFF) and with (ON) pharmacological treatment. 2 groups of 60 healthy age-matched volunteers provide the reference for between-group comparisons. Along with the clinical examinations, several speech tasks are recorded to obtain acoustic and perceptual measures. Patient-reported outcome measures are used to assess the psychosocial impact of dysarthria on quality of life. ETHICS AND DISSEMINATION: The study has been approved by the local responsible committees on human experimentation and is conducted in accordance with the ethical standards. A valuable large-scale database of speech recordings and metadata from patients with PD in France and Portugal will be constructed. Results will be disseminated in several articles in peer-reviewed journals and in conference presentations. Recommendations on how to assess speech and voice disorders in individuals with PD to monitor the progression and management of symptoms will be provided. TRIAL REGISTRATION NUMBER: NCT02753192, Pre-results.


Assuntos
Disartria/tratamento farmacológico , Doença de Parkinson/complicações , Doença de Parkinson/fisiopatologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Estudos Transversais , Progressão da Doença , Feminino , França , Humanos , Idioma , Masculino , Pessoa de Meia-Idade , Portugal , Qualidade de Vida , Projetos de Pesquisa , Fala/efeitos dos fármacos
16.
Oncotarget ; 7(47): 77358-77364, 2016 Nov 22.
Artigo em Inglês | MEDLINE | ID: mdl-27764800

RESUMO

Genetic polymorphisms are associated with breast cancer risk. Clinical and epidemiological observations suggest that clinical characteristics of breast cancer, such as estrogen receptor or HER2 status, are also influenced by hereditary factors. To identify genetic variants associated with pathological characteristics of breast cancer patients, a Genome Wide Association Study was performed in a cohort of 9365 women from the French nationwide SIGNAL/PHARE studies (NCT00381901/RECF1098). Strong association between the FGFR2 locus and ER status of breast cancer patients was observed (ER-positive n=6211, ER-negative n=2516; rs3135718 OR=1.34 p=5.46×10-12). This association was limited to patients with HER2-negative tumors (ER-positive n=4267, ER-negative n=1185; rs3135724 OR=1.85 p=1.16×10-11). The FGFR2 locus is known to be associated with breast cancer risk. This study provides sound evidence for an association between variants in the FGFR2 locus and ER status among breast cancer patients, particularly among patients with HER2-negative disease. This refinement of the association between FGFR2 variants and ER-status to HER2-negative disease provides novel insight to potential biological and clinical influence of genetic polymorphisms on breast tumors.


Assuntos
Biomarcadores Tumorais , Neoplasias da Mama/genética , Estudo de Associação Genômica Ampla , Receptor ErbB-2/genética , Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/genética , Ensaios Clínicos Fase III como Assunto , Estudos de Coortes , Feminino , Predisposição Genética para Doença , Humanos , Polimorfismo de Nucleotídeo Único , Ensaios Clínicos Controlados Aleatórios como Assunto , Receptores de Estrogênio/genética
17.
Mol Ecol Resour ; 16(1): 176-82, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25959493

RESUMO

DNA metabarcoding offers new perspectives in biodiversity research. This recently developed approach to ecosystem study relies heavily on the use of next-generation sequencing (NGS) and thus calls upon the ability to deal with huge sequence data sets. The obitools package satisfies this requirement thanks to a set of programs specifically designed for analysing NGS data in a DNA metabarcoding context. Their capacity to filter and edit sequences while taking into account taxonomic annotation helps to set up tailor-made analysis pipelines for a broad range of DNA metabarcoding applications, including biodiversity surveys or diet analyses. The obitools package is distributed as an open source software available on the following website: http://metabarcoding.org/obitools. A Galaxy wrapper is available on the GenOuest core facility toolshed: http://toolshed.genouest.org.


Assuntos
DNA/genética , Software , Código de Barras de DNA Taxonômico , Sequenciamento de Nucleotídeos em Larga Escala , Internet
18.
J Autism Dev Disord ; 45(1): 127-37, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25070470

RESUMO

No agreement has been reached yet on the co-occurrence of Intellectual Disability (ID) and Autism Spectrum Disorders (ASD) in young children. This study describes the clinical profiles of 253 children with ASD between 30 and 65 months old, on IQ and adaptive behaviors, prior to their entry in an early behavioral intervention program. Results showed that 36.8% of the children met the criteria for ID, with 60.2% of these in the mild range (IQ 50-69) and 39.8% in the moderate range (IQ 35-49). ID profiles were similar for boys and girls. Intellectual and adaptive behavior profiles are described as well as their links to various socioeconomic factors.


Assuntos
Transtornos Globais do Desenvolvimento Infantil/complicações , Transtornos Globais do Desenvolvimento Infantil/psicologia , Deficiência Intelectual/complicações , Deficiência Intelectual/psicologia , Adaptação Psicológica , Pré-Escolar , Feminino , Humanos , Deficiência Intelectual/epidemiologia , Testes de Inteligência , Masculino , Prevalência , Quebeque/epidemiologia , Fatores Socioeconômicos
19.
J Autism Dev Disord ; 44(7): 1609-20, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24384673

RESUMO

Parents of children with autism spectrum disorder are known to experience more stress than parents of children with any other conditions. The current study describes the parental stress of 118 fathers and 118 mothers at the onset of their children's Early Intensive Behavioral Intervention program. The objectives of the study were to compare and analyze each parent's stress and to identify factors that might predict their stress. Results indicated that fathers reported higher levels of stress than mothers. Correlations indicated that the stress levels of both parents were associated with their child's age, intellectual quotient, severity of autistic symptoms, and adaptive behaviors. Paternal stress, but not maternal stress, was predicted by severity of autistic symptoms and child's gender. Results are discussed in terms of their implications for services and early interventions.


Assuntos
Transtornos Globais do Desenvolvimento Infantil/psicologia , Pais/psicologia , Estresse Psicológico/diagnóstico , Adaptação Psicológica , Adulto , Criança , Pré-Escolar , Intervenção Educacional Precoce , Feminino , Humanos , Masculino
20.
Vet Anaesth Analg ; 40(4): 375-81, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23402588

RESUMO

OBJECTIVE: To compare the changes in splenic length and thickness and in packed cell volume (PCV) following detomidine or xylazine administration and subsequent epinephrine infusion. HYPOTHESIS: Spleen relaxation occurs following xylazine or detomidine administration and interferes with subsequent splenic contractile response to epinephrine. STUDY DESIGN: Randomized non-blinded crossover experimental study. ANIMALS: 6 healthy adult mares. METHODS: The mares received an intravenous (IV) epinephrine infusion (1 µg kg(-1 ) minute(-1) over 5 minutes) one hour after IV administration of detomidine (0.01 mg kg(-1) ), xylazine (0.5 mg kg(-1) ) or no drug (control), with a withdrawal period of at least 7 days between experiments. The splenic length measured in two different axes, the splenic thickness, and the PCV were measured prior to sedation (T0), 30 minutes later, and at 5-minute intervals from the start of the epinephrine infusion (T1) until T1 + 40 minutes. Changes from base-line and between treatments were compared using a two-way anova for repeated measures. Significance was set at p < 0.05. RESULTS: Splenic length was significantly increased and PCV was significantly decreased after detomidine administration compared to baseline. Epinephrine infusion resulted in a significant decrease in splenic length and thickness, and a significant increase in PCV, irrespective of prior treatment with detomidine or xylazine. CONCLUSIONS: Detomidine administration was followed by a sonographically detectable increase of splenic length. Neither detomidine nor xylazine interfered with the ability of the spleen to contract following subsequent administration of an epinephrine infusion given one hour later. CLINICAL RELEVANCE: Previous sedation with alpha-2 agonists does not preclude the efficiency of epinephrine as a medical treatment of left dorsal displacement of the large colon, but further investigations are required with other drug doses and different time intervals between administrations.


Assuntos
Epinefrina/farmacologia , Cavalos , Hipnóticos e Sedativos/farmacologia , Imidazóis/farmacologia , Baço/efeitos dos fármacos , Xilazina/farmacologia , Animais , Estudos Cross-Over , Feminino , Baço/fisiologia
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