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1.
Can Commun Dis Rep ; 45(7-8): 212-224, 2019 Jul 04.
Artigo em Inglês | MEDLINE | ID: mdl-31355825

RESUMO

BACKGROUND: From June 7 to June 9, 2018, a G7 Summit was held in the Canadian province of Quebec. This international political mass gathering event posed a number of potential risks to public health. OBJECTIVE: To assess three additional monitoring strategies to detect public health threats during a mass gathering event. INTERVENTION: In addition to routine public health monitoring, a partnership was created and three monitoring strategies were put in place three days before, during and six days after the G7 event: the analysis of data on the presenting complaint and discharge diagnosis from 11 emergency departments in the area using the logical Early Aberration Reporting System; the daily polling of key health partners with an online questionnaire; and the analysis of calls to Info-Santé, a government-run telephone consultation service for the public regarding health and social issues. RESULTS: Emergency room data produced 78 alerts from the presenting complaints and 39 alerts from the discharge diagnoses. Of these 117 alerts, two were investigated (one in the respiratory and one in the neurological-muscular categories) and no other interventions were required. With a few exceptions, all of the health partners completed the online survey each day and no signal of concern was generated. Compared with historical data, no increase or differences in calls to Info-Santé were detected during the monitoring period. CONCLUSION: The three additional monitoring strategies developed to detect events of public health importance during the 2018 G7 Summit in Quebec were successful in gathering timely data for analysis. Close collaboration and good participation from the different partners were essential to this project. However, because no public health event occurred, it was not possible to determine whether the enhanced surveillance system had sufficient speed and sensitivity for timely detection and response.

2.
J Pediatr Urol ; 14(2): 157.e1-157.e8, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29398588

RESUMO

INTRODUCTION: Prior studies of outcomes following genitoplasty have reported high rates of surgical complications among children with atypical genitalia. Few studies have prospectively assessed outcomes after contemporary surgical approaches. OBJECTIVE: The current study reported the occurrence of early postoperative complications and of cosmetic outcomes (as rated by surgeons and parents) at 12 months following contemporary genitoplasty procedures in children born with atypical genitalia. STUDY DESIGN: This 11-site, prospective study included children aged ≤2 years, with Prader 3-5 or Quigley 3-6 external genitalia, with no prior genitoplasty and non-urogenital malformations at the time of enrollment. Genital appearance was rated on a 4-point Likert scale. Paired t-tests evaluated differences in cosmesis ratings. RESULTS: Out of 27 children, 10 were 46,XY patients with the following diagnoses: gonadal dysgenesis, PAIS or testosterone biosynthetic defect, severe hypospadias and microphallus, who were reared male. Sixteen 46,XX congenital adrenal hyperplasia patients were reared female and one child with sex chromosome mosaicism was reared male. Eleven children had masculinizing genitoplasty for penoscrotal or perineal hypospadias (one-stage, three; two-stage, eight). Among one-stage surgeries, one child had meatal stenosis (minor) and one developed both urinary retention (minor) and urethrocutaneous fistula (major) (Summary Figure). Among two-stage surgeries, three children developed a major complication: penoscrotal fistula, glans dehiscence or urethral dehiscence. Among 16 children who had feminizing genitoplasty, vaginoplasty was performed in all, clitoroplasty in nine, external genitoplasty in 13, urethroplasty in four, perineoplasty in five, and total urogenital sinus mobilization in two. Two children had minor complications: one had a UTI, and one had both a mucosal skin tag and vaginal mucosal polyp. Two additional children developed a major complication: vaginal stenosis. Cosmesis scores revealed sustained improvements from 6 months post-genitoplasty, as previously reported, with all scores reported as good or satisfied. DISCUSSION: In these preliminary data from a multi-site, observational study, parents and surgeons were equally satisfied with the cosmetic outcomes 12 months after genitoplasty. A small number of patients had major complications in both feminizing and masculinizing surgeries; two-stage hypospadias repair had the most major complications. Long-term follow-up of patients at post-puberty will provide a better assessment of outcomes in this population. CONCLUSION: In this cohort of children with moderate to severe atypical genitalia, preliminary data on both surgical and cosmetic outcomes were presented. Findings from this study, and from following these children in long-term studies, will help guide practitioners in their discussions with families about surgical management.


Assuntos
Hiperplasia Suprarrenal Congênita/cirurgia , Transtornos do Desenvolvimento Sexual/cirurgia , Anormalidades Urogenitais/cirurgia , Hiperplasia Suprarrenal Congênita/diagnóstico , Pré-Escolar , Estudos de Coortes , Transtornos do Desenvolvimento Sexual/diagnóstico , Estética , Feminino , Genitália Feminina/anormalidades , Genitália Feminina/cirurgia , Genitália Masculina/anormalidades , Genitália Masculina/cirurgia , Humanos , Lactente , Masculino , Complicações Pós-Operatórias , Estudos Prospectivos , Qualidade de Vida , Procedimentos de Cirurgia Plástica/métodos , Medição de Risco , Cirurgia Plástica/métodos , Resultado do Tratamento , Anormalidades Urogenitais/diagnóstico , Procedimentos Cirúrgicos Urogenitais/efeitos adversos , Procedimentos Cirúrgicos Urogenitais/métodos
3.
J Pediatr Urol ; 13(1): 28.e1-28.e6, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27887913

RESUMO

INTRODUCTION: Little data exist about the surgical interventions taking place for children with disorders of sex development (DSD). Most studies that have evaluated cosmetic outcomes after genitoplasty have included retrospective ratings by a physician at a single center. OBJECTIVE: The present study aimed to: 1) describe frequency of sex assignment, and types of surgery performed in a cohort of patients with moderate-to-severe genital ambiguity; and 2) prospectively determine cosmesis ratings by parents and surgeons before and after genital surgery. STUDY DESIGN: This prospective, observational study included children aged <2 years of age, with no prior genitoplasty at the time of enrollment, moderate-to-severe genital atypia, and being treated at one of 11 children's hospitals in the United States of America (USA). Clinical information was collected, including type of surgery performed. Parents and the local pediatric urologist rated the cosmetic appearance of the child's genitalia prior to and 6 months after genitoplasty. RESULTS: Of the 37 children meeting eligibility criteria, 20 (54%) had a 46,XX karyotype, 15 (40%) had a 46,XY karyotype, and two (5%) had sex chromosome mosaicism. The most common diagnosis overall was congenital adrenal hyperplasia (54%). Thirty-five children had surgery; 21 received feminizing genitoplasty, and 14 had masculinizing genitoplasty. Two families decided against surgery. At baseline, 22 mothers (63%), 14 fathers (48%), and 35 surgeons (100%) stated that they were dissatisfied or very dissatisfied with the appearance of the child's genitalia. Surgeons rated the appearance of the genitalia significantly worse than mothers (P < 0.001) and fathers (P ≤ 0.001) at baseline. At the 6-month postoperative visit, cosmesis ratings improved significantly for all groups (P < 0.001 for all groups). Thirty-two mothers (94%), 26 fathers (92%), and 31 surgeons (88%) reported either a good outcome, or they were satisfied (see Summary Figure); there were no significant between-group differences in ratings. DISCUSSION: This multicenter, observational study showed surgical interventions being performed at DSD centers in the USA. While parent and surgeon ratings were discordant pre-operatively, they were generally concordant postoperatively. Satisfaction with postoperative cosmesis does not necessarily equate with satisfaction with the functional outcome later in life. CONCLUSION: In this cohort of children with genital atypia, the majority had surgery. Parents and surgeons all rated the appearance of the genitalia unfavorably before surgery, with surgeons giving worse ratings than parents. Cosmesis ratings improved significantly after surgery, with no between-group differences.


Assuntos
Doenças dos Genitais Femininos/cirurgia , Doenças dos Genitais Masculinos/cirurgia , Genitália/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Procedimentos Cirúrgicos Urogenitais , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos
4.
J Hum Nutr Diet ; 27(4): 391-400, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24387074

RESUMO

BACKGROUND: Not all healthcare professionals are familiar with nutrigenomics. However, they recognise that nutrigenomics has great potential for the development of preventive health approaches. The present study aimed to provide an overall picture of the current situation about nutrigenomics in the practice of registered dietitians (RDs) from the province of Quebec (Canada). METHODS: Three hundred and seventy-three RDs members of the Ordre professionnel des diététistes du Québec completed an online survey that included 34 questions, most of which were closed-ended questions. RESULTS: Overall, 76.9% of RDs knew about nutrigenomics. Among RDs with <5 years of experience, 49.2% knew about genetic testing related to nutrition compared to 11.7% for RDs with over 25 years of experience. Currently, 75.9% of RDs working in clinical nutrition in the public sector consider that they do not have the basic knowledge to integrate nutrigenomics in their practice compared to 62.9% for RDs in private practice. When asked about main limitations of genetic testing related to nutrition, RDs considered that genetic testing does not consider the other determinants of health, that genetic testing and their results have poor accuracy, and that there is a lack of scientific evidence. Concerns remained about ethical and legal aspects and its difficult application as a result of poor understanding and/or interpretation by professionals and/or customers. The high costs of these tests were also noted as a limitation. CONCLUSIONS: Registered dietitians know and are interested in nutrigenomics, especially those with less experience, although they do not feel adequately qualified to integrate findings from nutrigenomics into their practice.


Assuntos
Dietética , Nutrigenômica/métodos , Nutricionistas , Encaminhamento e Consulta , Adulto , Feminino , Testes Genéticos , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Necessidades Nutricionais , Quebeque , Fatores Socioeconômicos , Inquéritos e Questionários
5.
Int J Obes (Lond) ; 33(12): 1419-26, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19736556

RESUMO

OBJECTIVE: To examine whether dietary patterns are associated with obesity phenotypes. DESIGN: Cross-sectional study. SUBJECTS: We recruited 664 participants aged between 18 and 55 years. Dietary data were collected from a food frequency questionnaire. A factor analysis was performed to derive dietary patterns. Body mass index (BMI), weight and waist girth were recorded using standard procedures. Fat mass and fat-free mass were assessed by electrical bioimpedance. Obesity was defined as having a BMI> or =30 kg m(-2) and a positive FHO (FHO+) as having at least one obese first-degree relative. RESULTS: Two dietary patterns were identified; Western and Prudent. The Western pattern was mainly characterized by a higher consumption of refined grains, French fries, red meats, condiments, processed meats and regular soft drinks whereas the Prudent pattern was mainly characterized by a higher consumption of non-hydrogenated fat, vegetables, eggs and fish and seafood. Subjects in the top tertile of the Western pattern had higher BMI, weight, waist girth, waist-to-hip ratio and fat mass than those in the lower tertile. In contrast, subjects in the top tertile of the Prudent pattern had lower BMI, weight, waist girth, fat mass, HDL-cholesterol levels, and lower triglyceride levels than those in the lowest tertile. Individuals in the upper tertile of the Western pattern were more likely to be obese (obesity was defined as having a BMI> or =30 kg m(-2)) (OR=1.82, 95% CI 1.16-2.87) whereas those in the upper tertile of the Prudent pattern were less likely to be obese (OR=0.62, 95% CI 0.40-0.96). These latter significant associations were only observed among those with FHO+. No such association was observed among FHO- individuals. CONCLUSION: Individuals having a high score of Western pattern were more likely to be obese and those having a high score of the Prudent pattern were less likely to be obese, and this is particularly among individuals with an FHO+.


Assuntos
Dieta , Gorduras na Dieta/efeitos adversos , Obesidade/epidemiologia , Adolescente , Adulto , Análise de Variância , Índice de Massa Corporal , Estudos Transversais , Registros de Dieta , Comportamento Alimentar/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Obesidade/genética , Fenótipo , Quebeque/epidemiologia , Fatores de Risco , Inquéritos e Questionários , Circunferência da Cintura , Adulto Jovem
6.
Neuroimage ; 43(4): 736-47, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18805496

RESUMO

This study aims at segregating the neural substrate for the 3D-form and 3D-motion attributes in structure-from-motion perception, and at disentangling the stimulus-driven and endogenous-attention-driven processing of these attributes. Attention and stimulus were manipulated independently: participants had to detect the transitions of one attribute--form, 3D motion or colour--while the visual stimulus underwent successive transitions of all attributes. We compared the BOLD activity related to form and 3D motion in three conditions: stimulus-driven processing (unattended transitions), endogenous attentional selection (task) or both stimulus-driven processing and attentional selection (attended transitions). In all conditions, the form versus 3D-motion contrasts revealed a clear dorsal/ventral segregation. However, while the form-related activity is consistent with previously described shape-selective areas, the activity related to 3D motion does not encompass the usual "visual motion" areas, but rather corresponds to a high-level motion system, including IPL and STS areas. Second, we found a dissociation between the neural processing of unattended attributes and that involved in endogenous attentional selection. Areas selective for 3D-motion and form showed either increased activity at transitions of these respective attributes or decreased activity when subjects' attention was directed to a competing attribute. We propose that both facilitatory and suppressive mechanisms of attribute selection are involved depending on the conditions driving this selection. Therefore, attentional selection is not limited to an increased activity in areas processing stimulus properties, and may unveil different functional localization from stimulus modulation.


Assuntos
Atenção/fisiologia , Percepção de Forma/fisiologia , Imageamento por Ressonância Magnética/métodos , Percepção de Movimento/fisiologia , Estimulação Luminosa/métodos , Córtex Visual/fisiologia , Vias Visuais/fisiologia , Adulto , Mapeamento Encefálico/métodos , Potenciais Evocados Visuais/fisiologia , Feminino , Humanos , Imageamento Tridimensional/métodos , Masculino
7.
J Vis ; 8(16): 17.1-14, 2008 Dec 29.
Artigo em Inglês | MEDLINE | ID: mdl-19146283

RESUMO

This study uses a rapid-serial-visual-presentation (RSVP) paradigm to test the extent to which shape and motion direction can be independently accessed and processed during the perception of structure-from-motion (SFM) stimuli. Subjects reported the number of occurrences of shape or motion direction during RSVP sequences of 3D-SFM stimuli. Overall, performance was better for motion than shape. In the motion task, observers were less accurate when the motion direction was repeated revealing a repetition blindness (RB) effect. In addition, the repetition of shape, although irrelevant to the motion task, resulted in increased performance, without change in RB rate. In contrast, there was no RB at the group level in the shape task and the repetition of the irrelevant motion direction had no effect on the performance. A closer look at the data showed that observers fall in two statistically distinct groups for the shape task. Some observers (N = 6) show a repetition advantage (RA) while the others (N = 5) show a repetition blindness (RB) effect. No behavioral differences between groups could be found for the motion task. The implications of these results for models of SFM processing are discussed in the light of the type/token theory (N. Kanwisher, 2001).


Assuntos
Atenção/fisiologia , Percepção de Profundidade/fisiologia , Percepção de Forma/fisiologia , Percepção de Movimento/fisiologia , Humanos , Estimulação Luminosa/métodos
8.
Arch Bronconeumol ; 40(12): 553-7, 2004 Dec.
Artigo em Espanhol | MEDLINE | ID: mdl-15574268

RESUMO

OBJECTIVE: To investigate the changes in lung cancer incidence, histological type, and survival in patients in the north of the province of Castellón, Spain, during a follow-up period of 10 years, and to compare the findings with other national and international studies. PATIENTS AND METHOD: All patients diagnosed with lung cancer between January 1, 1993 and December 31, 2002 were included in this prospective, observational study. Disease was confirmed by biopsy or suspected from clinical, radiological, and/or bronchoscopic findings. RESULTS: In the study period, 271 patients were diagnosed with lung cancer (239 men and 32 women), with a mean (SD) age of 66.8 (11.8) years. The age-adjusted incidence rate standardized to the world population was 20.42 cases per 100,000 population. Smokers or ex-smokers comprised 88.1% of the study population, and 72.6% of patients were over 60 years old. Biopsy confirmation was obtained in 262 cases (96.7%). Squamous cell carcinoma predominated (46.5%) but the proportion of adenocarcinoma increased (23.6%). Surgery was possible in only 22% of the patients. Mean overall 5-year survival was 15.7 months. CONCLUSIONS: In the north of the province of Castellón, the incidence of lung cancer continues to increase in men but has decreased slightly in women. Squamous cell carcinoma is the most common type, but the incidence of adenocarcinoma has clearly increased. Overall, survival did not improve during the 10 years of follow up despite advances in treatment.


Assuntos
Neoplasias Brônquicas/mortalidade , Neoplasias Brônquicas/patologia , Carcinoma de Células Escamosas/mortalidade , Carcinoma de Células Escamosas/patologia , Neoplasias Pulmonares/mortalidade , Neoplasias Pulmonares/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia , Neoplasias Brônquicas/terapia , Broncoscopia , Carcinoma de Células Escamosas/terapia , Área Programática de Saúde , Terapia Combinada , Progressão da Doença , Feminino , Humanos , Incidência , Neoplasias Pulmonares/terapia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Fumar/epidemiologia , Espanha/epidemiologia , Taxa de Sobrevida
9.
Phys Med Biol ; 47(10): 1623-32, 2002 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-12069082

RESUMO

It has been suggested that the small angle x-ray scattering (SAXS) pattern of human hair can be used to diagnose breast cancer and possibly to identify BRCA1/2 mutation carriers, who are at significantly elevated risk for developing breast cancer. In particular, the presence of a diffuse ring in the SAXS pattern was said to be diagnostic of either breast cancer or an increased risk thereof. To test this hypothesis, we measured SAXS from the pubic hair of 56 subjects with known BRCA1/2 and breast cancer status. We found that there is no clear association between the pattern of SAXS seen in human pubic hair and the risk of breast cancer or the presence of BRCA1/2 mutations. The possible use of SAXS to diagnose cancer remains conjectural, but this and previous studies do not suggest that SAXS can be used as a reliable method of identifying either BRCA1/2 mutation carriers or women who have had breast cancer.


Assuntos
Proteína BRCA2/genética , Neoplasias da Mama/genética , Genes BRCA1 , Cabelo/química , Mutação , Difração de Raios X/métodos , Neoplasias da Mama/diagnóstico , Feminino , Humanos , Espalhamento de Radiação , Raios X
10.
Arch Bronconeumol ; 37(8): 298-301, 2001 Sep.
Artigo em Espanhol | MEDLINE | ID: mdl-11562314

RESUMO

OBJECTIVES: To estimate the incidence and survival of bronchopulmonary carcinoma in the northern part of the Spanish province of Castellón while collecting other epidemiologic data. PATIENTS AND METHODS: This prospective, observational study enrolled all patients residing habitually in northern Castellón with diagnoses of bronchopulmonary carcinoma recorded from 1 January 1993 until 31 December 1997. Enrollment criteria were cytohistologic confirmation of diagnosis or suspicion based on clinical, radiologic and/or bronchoscopic data. RESULTS: One hundred eighteen patients (100 men, 18 women) were so diagnosed, giving a world population-adjusted incidence of 17.4 cases per 100,000 inhabitants (men: 31.2; women: 4.5). Smokers or ex-smokers accounted for 84.7% and 74.5% were over 60 years of age. Cytohistologic confirmation was obtained for 117 patients (99%). Epidermoid carcinoma predominated (58%) and surgery was performed in only 23% of the cases. Only one patient was lost to follow-up during the study period. Mean 5-year survival was 7.6%. CONCLUSIONS: The standardized incidence of bronchopulmonary carcinoma in 1993-1997 in the northern part of Castellón was 17.4 cases per 100,000 inhabitants (women: 31.2; women: 4.5), with epidermoid carcinoma predominating and a five-year survival rate of 7.6%.


Assuntos
Carcinoma Pulmonar de Células não Pequenas/epidemiologia , Carcinoma de Células Pequenas/epidemiologia , Carcinoma de Células Escamosas/epidemiologia , Neoplasias Pulmonares/epidemiologia , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Carcinoma Pulmonar de Células não Pequenas/mortalidade , Carcinoma de Células Pequenas/mortalidade , Carcinoma de Células Escamosas/mortalidade , Estudos de Coortes , Feminino , Humanos , Neoplasias Pulmonares/mortalidade , Masculino , Pessoa de Meia-Idade , Fatores Sexuais , Espanha/epidemiologia , Análise de Sobrevida , Fatores de Tempo
11.
Arch. bronconeumol. (Ed. impr.) ; 37(8): 298-301, sept. 2001.
Artigo em Es | IBECS | ID: ibc-603

RESUMO

OBJETIVOS: Conocer la incidencia y la supervivencia del carcinoma broncopulmonar en el norte de la provincia de Castellón, así como otros aspectos clinicoepidemiológicos. PACIENTES Y MÉTODOS: Se ha realizado un estudio prospectivo y observacional, en el que se incluyó a todos los pacientes diagnosticados de carcinoma broncopulmonar desde el 1 de enero de 1993 hasta el 31 de diciembre de 1997 que residían de forma habitual en esta zona. Se exigió la confirmación citohistológica o la sospecha basada en datos clínicos, radiológicos y/o broncoscópicos. RESULTADOS: Se diagnosticó a 118 pacientes, 100 varones y 18 mujeres. Esto supone una tasa de incidencia ajustada a la población mundial de 17,4 casos por 100.000 habitantes (varones: 31,2; mujeres: 4,5). En un 84,7 por ciento eran fumadores o ex fumadores, y el 74,5 por ciento de los pacientes tenía más de 60 años. Se obtuvo confirmación citohistológica en 117 casos (99 por ciento). Predominó el tipo epidermoide (58 por ciento), y sólo se pudo realizar tratamiento con cirugía en el 23 por ciento de los casos. Durante el período del estudio sólo se perdió el seguimiento de un paciente. La supervivencia media global a los 5 años ha sido del 7,6 por ciento. CONCLUSIONES: En el norte de la provincia de Castellón, la tasa de incidencia estandarizada del carcinoma broncopulmonar en el período 1993-1997 ha sido de 17,4 casos por 100.000 habitantes (varones 31,2; mujeres: 4,5), predomina el tipo epidermoide y la supervivencia a los 5 años es del 7,6 por ciento (AU)


Assuntos
Pessoa de Meia-Idade , Adulto , Idoso de 80 Anos ou mais , Idoso , Masculino , Feminino , Humanos , Espanha , Fatores Sexuais , Fatores de Tempo , Estudos de Coortes , Análise de Sobrevida , Carcinoma de Células Escamosas , Fatores Etários , Carcinoma de Células Pequenas , Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares
12.
MAGMA ; 13(2): 91-100, 2001 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-11502423

RESUMO

Many event-related functional magnetic resonance imaging paradigms performed so far have been designed to study a limited part of the brain with high temporal resolution. However, event-related paradigms can be exploratory, therefore requiring whole brain scans and so repetition times (TR) of several seconds. For these large TR values, the slice acquisition order may have an important effect on the detection of event-related activation. Indeed, when the scanning is interleaved, the temporal delay between the acquisition of two contiguous slices can reach a few seconds. During this time, the subject is likely to move, and the haemodynamic response will vary significantly. In this case, the interpolation applied between contiguous slices for motion correction induces a temporal smoothing between voxels that are spatially close but temporally sampled a few seconds apart. This should modify the frequency structure of the response and may impair the detection of short events. We, therefore tested the effect of three acquisition schemes (sequential, sequential with gap and interleaved, INT) at two repetition times (TR=3 and 6 s on six and seven subjects, respectively) on activation detection and frequency content in a visual motion event-related paradigm. Unexpectedly, for large TR (6 s), results were found in favour of the INT acquisition scheme (P<0.05). For smaller TR, no strong bias could be found. Generally, intra-subject variability (across acquisition schemes) is found to be much smaller than inter-subject variability, confirming the importance of multi-subjects analyses. Our study also shows that important physiological information is carried by high frequency components that should not be filtered out.


Assuntos
Encéfalo/patologia , Imageamento por Ressonância Magnética/instrumentação , Imageamento por Ressonância Magnética/métodos , Oxigênio/sangue , Simulação por Computador , Hemodinâmica , Humanos , Modelos Estatísticos , Fatores de Tempo
13.
Clin Genet ; 59(6): 418-23, 2001 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-11453973

RESUMO

The frequency of BRCA1 and BRCA2 mutations in women with breast cancer varies according to the age at diagnosis, family history of cancer, and ethnicity/country of origin. We set out to estimate the frequency of seven previously described founder mutations in BRCA1 and BRCA2 in all eligible French Canadian women diagnosed with invasive breast cancer at one Montreal hospital over a 20-month period. One hundred and ninety-two patients were eligible and 127 (66.2%) provided blood for genetic testing. We identified 4 women who carried a founder mutation (3.1%, 95% confidence interval 0.9-7.9%) in this population. Interestingly, all the mutations were in BRCA2. The mean age at diagnosis for mutation carriers was 51.2 years (range 49.1-53.5). Two of these 4 cases were lobular invasive carcinomas and 2 were ductal carcinomas, histological grade 1 or 2. Despite a small tumor size (< or =20 mm), axillary nodal involvement was present in 3 women. Estrogen receptors were strongly expressed in all cases. Two of the 4 cases reported a strong family history of breast cancer, but a family history of site-specific breast cancer was a relatively poor indicator of the presence of BRCA2 mutations. The absence of BRCA1 mutations may be a result of chance, but may also reflect different geographical origins of the most common BRCA1 mutations within the French Canadian population.


Assuntos
Proteína BRCA1/genética , Neoplasias da Mama/genética , Carcinoma Ductal de Mama/genética , Carcinoma Lobular/genética , Mutação em Linhagem Germinativa , Proteínas de Neoplasias/genética , Fatores de Transcrição/genética , Adulto , Idoso , Proteína BRCA2 , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/patologia , Canadá/epidemiologia , Carcinoma Ductal de Mama/epidemiologia , Carcinoma Ductal de Mama/patologia , Carcinoma Lobular/epidemiologia , Carcinoma Lobular/patologia , Feminino , Efeito Fundador , França , Humanos , Pessoa de Meia-Idade , Prevalência
15.
Int J Cancer ; 95(3): 189-93, 2001 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-11307153

RESUMO

Recently, founder BRCA1 and BRCA2 mutations were identified in Canadian breast cancer and breast-ovarian cancer families of French ancestry. The presence of a breast cancer case diagnosed at younger than 36 years of age was strongly predictive of the presence of any founder mutation screened. Here we report the occurrence of founder BRCA1 and BRCA2 mutations in a series of 61 French Canadian women with invasive breast cancer diagnosed at age 40 or younger, unselected for family history of breast and ovarian cancer. Germline mutations in BRCA1 (n = 4) and BRCA2 (n = 4) were identified in 8 of 61 (13%) cases. All BRCA1 mutations were found in invasive ductal carcinomas, the most common histologic type of tumor in this series. In contrast, the BRCA2 mutations were found in tumors of various histologic types: two ductal carcinomas, a tumor containing both ductal and lobular histologic types and an invasive lobular carcinoma. Of the 37 women with at least one first-, second- or third-degree relative with breast or ovarian cancer and the 24 women with no history of these cancers, 7 (19%) and 1 (4%), respectively, were mutation carriers. The seven mutation carriers with a family history of cancer had at least one first-, second- or third-degree relative with a breast cancer diagnosis at less than 51 years of age. The identification of founder BRCA1 and BRCA2 mutations in young-onset breast cancer cases unselected for family history can facilitate carrier detection when the expected yield of a comprehensive screen may be low.


Assuntos
Proteína BRCA1/genética , Neoplasias da Mama/genética , Efeito Fundador , Proteínas de Neoplasias/genética , Fatores de Transcrição/genética , Adulto , Proteína BRCA2 , Neoplasias da Mama/etnologia , Canadá/epidemiologia , Canadá/etnologia , Análise Mutacional de DNA , Feminino , Frequência do Gene , Humanos , Mutação
16.
Hum Brain Mapp ; 12(2): 79-93, 2001 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-11169872

RESUMO

A methodology for fMRI data analysis confined to the cortex, Cortical Surface Mapping (CSM), is presented. CSM retains the flexibility of the General Linear Model based estimation, but the procedures involved are adapted to operate on the cortical surface, while avoiding to resort to explicit flattening. The methodology is tested by means of simulations and application to a real fMRI protocol. The results are compared with those obtained with a standard, volume-oriented approach (SPM), and it is shown that CSM leads to local differences in sensitivity, with generally higher sensitivity for CSM in two of the three subjects studied. The discussion provided is focused on the benefits of the introduction of anatomical information in fMRI data analysis, and the relevance of CSM as a step toward this goal.


Assuntos
Mapeamento Encefálico/métodos , Córtex Cerebral/fisiologia , Imageamento por Ressonância Magnética/métodos , Simulação por Computador , Humanos , Modelos Neurológicos , Reprodutibilidade dos Testes
18.
J Am Acad Child Adolesc Psychiatry ; 40(12): 1426-33, 2001 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-11765288

RESUMO

OBJECTIVE: To identify adulthood impairments associated with major depression and drug disorders in adolescence, distinguishing between general impairments for both disorders and specific impairments for each disorder. METHOD: Within a longitudinal community study (N= 365), the Diagnostic Interview Schedule provided 1-year diagnoses of major depression and drug abuse/dependence at age 18. At age 21, current functioning was assessed. RESULTS: Adolescents with either depression or drug disorders had substantial deficits in later functioning, with few impairments shared in common. General areas of impairment included lower global functioning, externalizing behavior problems, and suicidal behaviors. Difficulties specific to depression encompassed multiple internalizing problems: interpersonal difficulties, decreased psychological well-being, career dissatisfaction, and active major depression at age 21. For males only, overall poor health was also a specific depression outcome. Age 21 problems unique to drug disorders included lower likelihood of post-high school education, being fired, and active drug disorders. Males, but not females, were also more likely to report antisocial behaviors in adulthood. CONCLUSIONS: Despite several significant commonalities, including suicide attempts, deficits associated with depression and drug disorders were primarily specific, suggesting distinct trajectories. Results highlight the need for specific follow-up services to alleviate continuing problems associated with these disorders.


Assuntos
Transtorno Depressivo Maior/epidemiologia , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Adolescente , Adulto , Transtorno Depressivo Maior/diagnóstico , Escolaridade , Feminino , Seguimentos , Nível de Saúde , Humanos , Relações Interpessoais , Satisfação no Emprego , Masculino , Prevalência , Estudos Prospectivos , Escalas de Graduação Psiquiátrica , Psicologia do Adolescente , Autoimagem , Transtornos Relacionados ao Uso de Substâncias/diagnóstico , Tentativa de Suicídio/estatística & dados numéricos
19.
Cereb Cortex ; 10(8): 772-83, 2000 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-10920049

RESUMO

Functional magnetic resonance imaging was used to study the cortical bases of 3-D structure perception from visual motion in human. Nine subjects underwent three experiments designed to locate the areas involved in (i) motion processing (random motion versus static dots), (ii) coherent motion processing (expansion/ contraction versus random motion) and (iii) 3-D shape from motion reconstruction (3-D surface oscillating in depth versus random motion). Two control experiments tested the specific influence of speed distribution and surface curvature on the activation results. All stimuli consisted of random dots so that motion parallax was the only cue available for 3-D shape perception. As expected, random motion compared with static dots induced strong activity in areas V1/V2, V5+ and the superior occipital gyrus (SOG; presumptive V3/V3A). V1/V2 and V5+ showed no activity increase when comparing coherent motion (expansion or 3-D surface) with random motion. Conversely, V3/V3A and the dorsal parieto-occipital junction were highlighted in both comparisons and showed gradually increased activity for random motion, coherent motion and a curved surface rotating in depth, which suggests their involvement in the coding of 3-D shape from motion. Also, the ventral aspect of the left occipito-temporal junction was found to be equally responsive to random and coherent motion stimuli, but showed a specific sensitivity to curved 3-D surfaces compared with plane surfaces. As this region is already known to be involved in the coding of static object shape, our results suggest that it might integrate various cues for the perception of 3-D shape.


Assuntos
Mapeamento Encefálico , Percepção de Profundidade/fisiologia , Percepção de Forma/fisiologia , Percepção de Movimento/fisiologia , Adulto , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Lobo Occipital/fisiologia , Lobo Parietal/fisiologia , Estimulação Luminosa , Valores de Referência
20.
Am J Orthopsychiatry ; 70(2): 253-62, 2000 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-10826037

RESUMO

A study of 384 18-year-old adolescents living in the community demonstrated a frequent co-occurrence of substance use disorders and post-traumatic stress disorder. Multiple pathways appeared to lead to this comorbidity, which was associated with widespread psychological impairment that might have serious developmental consequences. Implications for research and practice are discussed.


Assuntos
Transtornos de Estresse Pós-Traumáticos/epidemiologia , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Adolescente , Comorbidade , Feminino , Humanos , Acontecimentos que Mudam a Vida , Masculino , Desenvolvimento da Personalidade , Fatores de Risco , Transtornos de Estresse Pós-Traumáticos/psicologia , Transtornos Relacionados ao Uso de Substâncias/psicologia , Tentativa de Suicídio/psicologia , Tentativa de Suicídio/estatística & dados numéricos
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