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1.
Sensors (Basel) ; 24(4)2024 Feb 18.
Artigo em Inglês | MEDLINE | ID: mdl-38400478

RESUMO

In recent years, social assistive robots have gained significant acceptance in healthcare settings, particularly for tasks such as patient care and monitoring. This paper offers a comprehensive overview of the expressive humanoid robot, Qhali, with a focus on its industrial design, essential components, and validation in a controlled environment. The industrial design phase encompasses research, ideation, design, manufacturing, and implementation. Subsequently, the mechatronic system is detailed, covering sensing, actuation, control, energy, and software interface. Qhali's capabilities include autonomous execution of routines for mental health promotion and psychological testing. The software platform enables therapist-directed interventions, allowing the robot to convey emotional gestures through joint and head movements and simulate various facial expressions for more engaging interactions. Finally, with the robot fully operational, an initial behavioral experiment was conducted to validate Qhali's capability to deliver telepsychological interventions. The findings from this preliminary study indicate that participants reported enhancements in their emotional well-being, along with positive outcomes in their perception of the psychological intervention conducted with the humanoid robot.


Assuntos
Robótica , Humanos , Saúde Mental , Emoções , Psicoterapia , Software
2.
Sensors (Basel) ; 23(1)2023 Jan 03.
Artigo em Inglês | MEDLINE | ID: mdl-36617149

RESUMO

In social robotics, especially with regard to direct interactions between robots and humans, the robotic movements of the body, arms and head must make an adequate displacement to guarantee an adequate interaction, both from a functional and social point of view. To achieve this, the use of closed-loop control techniques that consider the complex nonlinear dynamics and disturbances inherent in these systems is required. In this paper, an implementation of a nonlinear controller for the tracking of trajectories and a profile of speeds that execute the movements of the arms and head of a humanoid robot based on the mathematical model is proposed. First, the design and implementation of the arms and head are initially presented, then the mathematical model via kinematic and dynamic analysis was performed. With the above, the design of nonlinear controllers such as nonlinear proportional derivative control with gravity compensation, Backstepping control, Sliding Mode control and the application of each of them to the robotic system are presented. A comparative analysis based on a frequency analysis, the efficiency in polynomial trajectories and the implementation requirements allowed selecting the non-linear Backstepping control technique to be implemented. Then, for the implementation, a centralized control architecture is considered, which uses a central microcontroller in the external loop and an internal microcontroller (as internal loop) for each of the actuators. With the above, the selected controller was validated through experiments performed in real time on the implemented humanoid robot, demonstrating proper path tracking of established trajectories for performing body language movements.


Assuntos
Robótica , Humanos , Robótica/métodos , Modelos Teóricos , Algoritmos , Movimento , Cinésica
3.
BMC Public Health ; 21(1): 692, 2021 04 23.
Artigo em Inglês | MEDLINE | ID: mdl-33888076

RESUMO

BACKGROUND: Individuals from melanoma-prone families have similar or reduced sun-protective behaviors compared to the general population. Studies on trends in sun-related behaviors have been temporally and geographically limited. METHODS: Individuals from an international consortium of melanoma-prone families (GenoMEL) were retrospectively asked about sunscreen use, sun exposure (time spent outside), sunburns, and sunbed use at several timepoints over their lifetime. Generalized linear mixed models were used to examine the association between these outcomes and birth cohort defined by decade spans, after adjusting for covariates. RESULTS: A total of 2407 participants from 547 families across 17 centers were analyzed. Sunscreen use increased across subsequent birth cohorts, and although the likelihood of sunburns increased until the 1950s birth cohort, it decreased thereafter. Average sun exposure did not change across the birth cohorts, and the likelihood of sunbed use increased in more recent birth cohorts. We generally did not find any differences in sun-related behavior when comparing melanoma cases to non-cases. Melanoma cases had increased sunscreen use, decreased sun exposure, and decreased odds of sunburn and sunbed use after melanoma diagnosis compared to before diagnosis. CONCLUSIONS: Although sunscreen use has increased and the likelihood of sunburns has decreased in more recent birth cohorts, individuals in melanoma-prone families have not reduced their overall sun exposure and had an increased likelihood of sunbed use in more recent birth cohorts. These observations demonstrate partial improvements in melanoma prevention and suggest that additional intervention strategies may be needed to achieve optimal sun-protective behavior in melanoma-prone families.


Assuntos
Melanoma , Neoplasias Cutâneas , Queimadura Solar , Humanos , Melanoma/epidemiologia , Melanoma/prevenção & controle , Estudos Retrospectivos , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/prevenção & controle , Queimadura Solar/epidemiologia , Queimadura Solar/prevenção & controle , Protetores Solares/uso terapêutico
4.
J Am Acad Dermatol ; 81(2): 386-394, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30731170

RESUMO

BACKGROUND: Although rare in the general population, highly penetrant germline mutations in CDKN2A are responsible for 5%-40% of melanoma cases reported in melanoma-prone families. We sought to determine whether MELPREDICT was generalizable to a global series of families with melanoma and whether performance improvements can be achieved. METHODS: In total, 2116 familial melanoma cases were ascertained by the international GenoMEL Consortium. We recapitulated the MELPREDICT model within our data (GenoMELPREDICT) to assess performance improvements by adding phenotypic risk factors and history of pancreatic cancer. We report areas under the curve (AUC) with 95% confidence intervals (CIs) along with net reclassification indices (NRIs) as performance metrics. RESULTS: MELPREDICT performed well (AUC 0.752, 95% CI 0.730-0.775), and GenoMELPREDICT performance was similar (AUC 0.748, 95% CI 0.726-0.771). Adding a reported history of pancreatic cancer yielded discriminatory improvement (P < .0001) in GenoMELPREDICT (AUC 0.772, 95% CI 0.750-0.793, NRI 0.40). Including phenotypic risk factors did not improve performance. CONCLUSION: The MELPREDICT model functioned well in a global data set of familial melanoma cases. Adding pancreatic cancer history improved model prediction. GenoMELPREDICT is a simple tool for predicting CDKN2A mutational status among melanoma patients from melanoma-prone families and can aid in directing these patients to receive genetic testing or cancer risk counseling.


Assuntos
Inibidor p16 de Quinase Dependente de Ciclina/genética , Predisposição Genética para Doença , Modelos Logísticos , Melanoma/genética , Neoplasias Pancreáticas , Neoplasias Cutâneas/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Área Sob a Curva , Criança , Testes Genéticos , Mutação em Linhagem Germinativa , Heterozigoto , Humanos , Internacionalidade , Pessoa de Meia-Idade , Neoplasias Pancreáticas/epidemiologia , Neoplasias Pancreáticas/genética , Fenótipo , Valor Preditivo dos Testes , Probabilidade , Curva ROC , Fatores de Risco , Adulto Jovem
5.
J Invest Dermatol ; 137(12): 2606-2612, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-28830827

RESUMO

Germline mutations in CDKN2A are frequently identified among melanoma kindreds and are associated with increased atypical nevus counts. However, a clear relationship between pathogenic CDKN2A mutation carriage and other nevus phenotypes including counts of common acquired nevi has not yet been established. Using data from GenoMEL, we investigated the relationships between CDKN2A mutation carriage and 2-mm, 5-mm, and atypical nevus counts among blood-related members of melanoma families. Compared with individuals without a pathogenic mutation, those who carried one had an overall higher prevalence of atypical (odds ratio = 1.64; 95% confidence interval = 1.18-2.28) nevi but not 2-mm nevi (odds ratio = 1.06; 95% confidence interval = 0.92-1.21) or 5-mm nevi (odds ratio = 1.26; 95% confidence interval = 0.94-1.70). Stratification by case status showed more pronounced positive associations among non-case family members, who were nearly three times (odds ratio = 2.91; 95% confidence interval = 1.75-4.82) as likely to exhibit nevus counts at or above the median in all three nevus categories simultaneously when harboring a pathogenic mutation (vs. not harboring one). Our results support the hypothesis that unidentified nevogenic genes are co-inherited with CDKN2A and may influence carcinogenesis.


Assuntos
Inibidor de Quinase Dependente de Ciclina p18/genética , Mutação em Linhagem Germinativa , Melanoma/genética , Nevo/genética , Neoplasias Cutâneas/genética , Inibidor p16 de Quinase Dependente de Ciclina , Análise Mutacional de DNA , Saúde da Família , Feminino , Genótipo , Humanos , Masculino , Nevo Pigmentado/genética , Razão de Chances , Fenótipo , Sistema de Registros , Melanoma Maligno Cutâneo
6.
J Invest Dermatol ; 136(5): 1066-1069, 2016 05.
Artigo em Inglês | MEDLINE | ID: mdl-26827760
7.
Genet Med ; 18(7): 727-36, 2016 07.
Artigo em Inglês | MEDLINE | ID: mdl-26681309

RESUMO

PURPOSE: CDKN2A is the main high-risk melanoma-susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze CDKN2A and MC1R in patients from Latin America with familial and sporadic multiple primary melanoma (SMP) and compare the data with those for patients from Spain to establish bases for melanoma genetic counseling in Latin America. METHODS: CDKN2A and MC1R were sequenced in 186 Latin American patients from Argentina, Brazil, Chile, Mexico, and Uruguay, and in 904 Spanish patients. Clinical and phenotypic data were obtained. RESULTS: Overall, 24 and 14% of melanoma-prone families in Latin America and Spain, respectively, had mutations in CDKN2A. Latin American families had CDKN2A mutations more frequently (P = 0.014) than Spanish ones. Of patients with SMP, 10% of those from Latin America and 8.5% of those from Spain had mutations in CDKN2A (P = 0.623). The most recurrent CDKN2A mutations were c.-34G>T and p.G101W. Latin American patients had fairer hair (P = 0.016) and skin (P < 0.001) and a higher prevalence of MC1R variants (P = 0.003) compared with Spanish patients. CONCLUSION: The inclusion criteria for genetic counseling of melanoma in Latin America may be the same criteria used in Spain, as suggested in areas with low to medium incidence, SMP with at least two melanomas, or families with at least two cases among first- or second-degree relatives.Genet Med 18 7, 727-736.


Assuntos
Inibidor de Quinase Dependente de Ciclina p18/genética , Predisposição Genética para Doença , Melanoma/genética , Receptor Tipo 1 de Melanocortina/genética , Adulto , Idoso , Inibidor p16 de Quinase Dependente de Ciclina , Feminino , Aconselhamento Genético , Mutação em Linhagem Germinativa , Humanos , Masculino , Melanoma/diagnóstico , Melanoma/epidemiologia , Melanoma/patologia , Pessoa de Meia-Idade , Fatores de Risco , Espanha
8.
Arch Dermatol ; 148(10): 1142-51, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22801744

RESUMO

OBJECTIVE: To examine the frequency and correlates of skin examination behaviors in an international sample of individuals at varying risk of developing melanoma. DESIGN: A cross-sectional, web-based survey. SETTING: Data were collected from the general population over a 20-month period on behalf of the Melanoma Genetics Consortium (GenoMEL). PARTICIPANTS: A total of 8178 adults from Northern (32%), Central (33%), and Southern (14%) Europe, Australia (13%), and the United States (8%). MAIN OUTCOME MEASURES: Self-reported frequency of skin self-examination (SSE) and clinical skin examination (CSE). RESULTS: After adjustment for age and sex, frequency of skin examination was higher in both Australia (odds ratio [OR]SSE=1.80 [99% CI, 1.49-2.18]; ORCSE=2.68 [99% CI, 2.23-3.23]) and the United States (ORSSE=2.28 [99% CI, 1.76-2.94]; ORCSE=3.39 [99% CI, 2.60-4.18]) than in the 3 European regions combined. Within Europe, participants from Southern Europe reported higher rates of SSE than those in Northern Europe (ORSSE=1.61 [99% CI, 1.31-1.97]), and frequency of CSE was higher in both Central (ORCSE=1.47 [99% CI, 1.22-1.78]) and Southern Europe (ORCSE=3.46 [99% CI, 2.78, 4.31]) than in Northern Europe. Skin examination behavior also varied according to melanoma history: participants with no history of melanoma reported the lowest levels of skin examination, while participants with a previous melanoma diagnosis reported the highest levels. After adjustment for region, and taking into account the role of age, sex, skin type, and mole count, engagement in SSE and CSE was associated with a range of psychosocial factors, including perceived risk of developing melanoma; perceived benefits of, and barriers to, skin examination; perceived confidence in one's ability to engage in screening; and social norms. In addition, among those with no history of melanoma, higher cancer-related worry was associated with greater frequency of SSE. CONCLUSIONS: Given the strong association between psychosocial factors and skin examination behaviors, particularly among people with no history of melanoma, we recommend that greater attempts be made to integrate psycho-education into the fabric of public health initiatives and clinical care, with clinicians, researchers, and advocacy groups playing a key role in guiding individuals to appropriate tools and resources.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Melanoma/diagnóstico , Melanoma/psicologia , Exame Físico/estatística & dados numéricos , Autoexame/estatística & dados numéricos , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/psicologia , Pele , Adulto , Ansiedade/psicologia , Austrália , Distribuição de Qui-Quadrado , Estudos Transversais , Europa (Continente) , Feminino , Inquéritos Epidemiológicos , Humanos , Internet , Israel , Masculino , Pessoa de Meia-Idade , Exame Físico/psicologia , Medição de Risco , Autoeficácia , Autoexame/psicologia , Conformidade Social , Estados Unidos , Adulto Jovem
9.
Cancer Epidemiol Biomarkers Prev ; 19(9): 2199-210, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20643826

RESUMO

BACKGROUND: The incidence of melanoma continues to increase in many countries, and primary prevention of melanoma includes avoidance of sunburn as well as adequate sun protection behavior. The aim of this study was to examine the prevalence of self-reported sun protection behaviors and sunburn in users of the Internet, and to identify the demographic, clinical, and attitudinal/motivational correlates of sun protection behaviors. METHODS: Self-report data were gathered on behalf of the GenoMEL consortium using an online survey available in 10 different languages, and 8,178 individuals successfully completed at least 80% of survey items, with 73% of respondents from Europe, 12% from Australia, 7% from the United States, 2% from Israel, and 6% from other countries. RESULTS: Half of all respondents and 27% of those with a previous melanoma reported at least one severe sunburn during the previous 12 months. The strongest factors associated with sun protection behavior were perceived barriers to protection (beta = -0.44/beta = -0.37), and respondents who reported a positive attitude toward suntans were less likely to protect (beta = -0.16/beta = -0.14). Reported use of protective clothing and shade, as well as avoidance of midday sun exposure, were more strongly related to reduced risk of sunburn than sunscreen use. CONCLUSIONS: Despite widespread dissemination of public health messages about the importance of sun protection, a substantial proportion of this international sample, including respondents with a previous melanoma, reported inadequate sun protection behaviors resulting in severe sunburn. IMPACT: Future strategies to decrease sunburn should target the practical, social, and psychological barriers associated with nonuptake of sun protection.


Assuntos
Comportamentos Relacionados com a Saúde , Melanoma/prevenção & controle , Neoplasias Cutâneas/prevenção & controle , Queimadura Solar/prevenção & controle , Protetores Solares/uso terapêutico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Incidência , Masculino , Melanoma/epidemiologia , Pessoa de Meia-Idade , Fatores de Risco , Autorrelato , Neoplasias Cutâneas/epidemiologia , Queimadura Solar/epidemiologia , Luz Solar , Inquéritos e Questionários , Adulto Jovem
10.
Eur J Cancer Prev ; 19(3): 216-26, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-20093934

RESUMO

Cutaneous melanoma continues to increase in incidence in many countries, and intentional tanning is a risk factor for melanoma. The aim of this study was to understand how melanoma risk factors, perceived threat and preferences for a suntan relate to intentional tanning. Self-report data were collected on behalf of GenoMEL (www.genomel.org) from the general population using an online survey. A total of 8178 individuals completed the survey, with 72.8% of respondents being from Europe, 12.1% from Australia, 7.1% from the US, 2.5% from Israel and 5.5% from other countries. Seven percent of respondents had previously been diagnosed with melanoma and 8% had at least one first-degree relative with a previous melanoma. Overall, 70% reported some degree of intentional tanning during the past year, and 38% of respondents previously diagnosed with melanoma had intentionally tanned. The total number of risk factors was positively correlated with perceived risk of melanoma [correlation coefficient (rho) = 0.27], and negatively correlated with intentional tanning (rho = -0.16). Preference for a dark suntan was the strongest predictor of intentional tanning [regression coefficient (beta) = 0.35, P<0.001], even in those with a previous melanoma (beta = 0.33, P<0.01). A substantial proportion of participants reported having phenotypic and behavioural risk factors for melanoma. The preference regarding suntans seemed more important in the participants' decision to intentionally tan than their perceived risk of developing melanoma, and this finding was consistent among respondents from different countries. The drive to sunbathe to tan is a key factor to be moderated if melanoma incidence is to be reduced.


Assuntos
Melanoma/etiologia , Banho de Sol , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco
11.
Dermatology ; 220(2): 103-9, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-19996577

RESUMO

BACKGROUND: Lichenoid keratosis (LK) is a well-described entity that has been proposed to represent a regressive response to a pre-existent epidermal lesion. AIMS: To evaluate the natural evolution of a series of cases showing the intermediate stage of the regression of seborrheic keratosis in LK using sequential dermoscopy imaging over time. MATERIAL AND METHODS: A series of lesions with dermoscopic areas of seborrheic keratosis and LK in the same tumor were consecutively collected for over 3 years at the Dermatology Department of the Hospital de Sant Pau i Santa Tecla, Tarragona, Spain. Sequential dermoscopic images of each case were collected quarterly for 1 year. At the end of the follow-up, all the lesions were biopsied. RESULTS: A total of 22 cases were collected. At the end of the follow-up, the LK part increased in all the lesions. In 11 cases (50%), the seborrheic keratosis part disappeared completely, and in another 5 cases (22.7%), seborrheic keratosis comprised only 10% of the remaining area. CONCLUSIONS: These dermoscopic study findings support the proposal that LK represents a regressive response to a pre-existent epidermal lesion, in this case seborrheic keratosis.


Assuntos
Dermoscopia , Ceratose Seborreica/diagnóstico , Líquen Plano/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Diagnóstico Diferencial , Feminino , Humanos , Ceratose Seborreica/patologia , Líquen Plano/patologia , Masculino , Pessoa de Meia-Idade , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Pigmentação da Pele
12.
Dermatol Online J ; 15(10): 10, 2009 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-19951628

RESUMO

Pyogenic granuloma is a common, benign, acquired, vascular growth of skin and mucous membranes that usually presents as a solitary, rapidly, growing, papule or polyp that bleeds easily after minor trauma. The clinical diagnosis of this lesion is usually straightforward. Moreover, the dermoscopic features associated with pyogenic granulomas have been described recently. However, occasionally this tumor can be difficult to differentiate clinically and dermoscopically from other pigmented and vascular lesions. We report the case of an 18-year-old male who presented with a round, purple-black nodule with hemorrhagic crust, 1 cm in diameter, located on the lower part of the thorax. Dermoscopic evaluation revealed the presence of a blue-white veil, a black blotch, polymorphous atypical vessels, milky-red areas, and hemorrhagic crusts. The subsequent histopathological examination revealed a pyogenic granuloma. We present a case of pyogenic granuloma clinically and dermoscopically indistinguishable from a pigmented malignant melanoma.


Assuntos
Dermoscopia , Granuloma Piogênico/patologia , Melanoma/patologia , Dermatopatias/patologia , Neoplasias Cutâneas/patologia , Adolescente , Diagnóstico Diferencial , Humanos , Masculino
15.
Rev. colomb. cardiol ; 14(6): 341-352, nov.-dic. 2007. ilus, tab, graf
Artigo em Espanhol | LILACS | ID: lil-481978

RESUMO

Introducción: estudios recientes demuestran la seguridad y eficacia de la implantación de células progenitoras derivadas de la médula ósea y de la administración del factor estimulante de colonias de granulocito en pacientes con infarto agudo del miocardio con elevación del segmento ST y en cardiopatía isquémica crónica. Se diseñó un estudio prospectivo, abierto de ®antes y después¼ para evaluar la seguridad y eficacia de la terapia celular asociada a la administración del factor de crecimiento. Se reporta la primera experiencia con este tipo de terapia.Metodología: este es el reporte del seguimiento a seis meses, de los pacientes con cardiopatía isquémica aguda y crónica a quienes se les realizó trasplante de células progenitoras derivadas de la médula ósea, movilizadas con factor de crecimiento estimulante de colonias de granulocitos, por vía intracoronaria o epicárdica. Se incluyeron dos grupos de pacientes: 1. Diez pacientes con infarto de pared anterior y 2. Cinco pacientes con cardiopatía isquémica crónica, todos con necrosis extensa demostrada por ausencia de viabilidad miocárdica por medicina nuclear y fracción de eyección menor del 40 porciento...


Assuntos
Medula Óssea , Infarto do Miocárdio , Transplante de Células-Tronco , Células-Tronco
16.
Rev. colomb. cardiol ; 14(6): 353-358, nov.-dic. 2007. tab, graf
Artigo em Espanhol | LILACS | ID: lil-481979

RESUMO

Introducción: en los pacientes con falla cardiaca y cardiopatía isquémica elegibles para la terapia de células progenitoras derivadas de la médula ósea, se ha demostrado la disminución de la variabilidad de la frecuencia cardiaca [medida por la desviación estándar del intervalo RR (NN) SDNN, siglas en inglés], situación que se relaciona con un aumento del riesgo cardiovascular y de eventos arrítmicos, como consecuencia de una disfunción del sistema nervioso autónomo.Métodos: se analizaron los pacientes que recibieron trasplante autólogo derivado de la médula ósea y que tenían enfermedad cardiaca isquémica aguda o crónica con fracción de eyección menor del 45 porciento, susceptibles o no de revascularización quirúrgica y zonas de tejido miocárdico necrótico y viable. Se les realizó monitoreo Holter de 24 horas pre-trasplante, a los dos, seis y doce meses posteriores a la intervención...


Assuntos
Medula Óssea , Frequência Cardíaca , Isquemia Miocárdica , Células-Tronco , Transplante Autólogo
17.
Int J Cancer ; 121(4): 825-31, 2007 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-17397031

RESUMO

The G101W founder mutation is the most common CDKN2A mutation in Italy, Spain, and France. As the background of modifying genes, environmental exposures, and sun behavior vary across countries, studying G101W carriers from distinct countries offers a unique opportunity to evaluate possible modifying factors in melanoma development. We evaluated 76 G101W cases and 59 carrier controls from France, Italy, Spain, and the United States. Hair color and dysplastic nevi distributions differed significantly in cases and controls across the 4 study groups. Cases also varied significantly for eye color, freckling, and nevi. The distribution of MC1R variants in cases differed significantly across study groups because 12% of Italian melanoma patients had > or =2 MC1R variants vs. >50% for the other case groups. Several MC1R covariates showed significant associations with melanoma risk in all groups combined and in the American, French, and Spanish samples; no significant findings were observed in the Italian sample. In multiple-case families, the number and type of MC1R variants varied significantly between multiple-primary-melanoma and single-primary-melanoma patients from the 4 groups; there was also a significant decrease in median age at melanoma diagnosis as the number or type of MC1R variants increased. The variation in the effects of the cutaneous phenotypic and MC1R factors across the study sample suggests that these factors differentially contribute to development of melanoma even on a common genetic background of a germline CDKN2A mutation. Differences in melanoma risk across geographic regions justify the need for individual studies in each country before counseling should be considered.


Assuntos
Genes p16 , Melanoma/genética , Receptor Tipo 1 de Melanocortina/genética , Neoplasias Cutâneas/genética , Pigmentação da Pele , Adulto , Estudos de Casos e Controles , Síndrome do Nevo Displásico/epidemiologia , Cor de Olho , Feminino , França , Frequência do Gene , Genótipo , Cor de Cabelo , Heterozigoto , Humanos , Itália , Masculino , Mutação , Fenótipo , Polimorfismo Genético , Espanha , Estados Unidos
18.
J Med Genet ; 44(2): 99-106, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-16905682

RESUMO

BACKGROUND: The major factors individually reported to be associated with an increased frequency of CDKN2A mutations are increased number of patients with melanoma in a family, early age at melanoma diagnosis, and family members with multiple primary melanomas (MPM) or pancreatic cancer. METHODS: These four features were examined in 385 families with > or =3 patients with melanoma pooled by 17 GenoMEL groups, and these attributes were compared across continents. RESULTS: Overall, 39% of families had CDKN2A mutations ranging from 20% (32/162) in Australia to 45% (29/65) in North America to 57% (89/157) in Europe. All four features in each group, except pancreatic cancer in Australia (p = 0.38), individually showed significant associations with CDKN2A mutations, but the effects varied widely across continents. Multivariate examination also showed different predictors of mutation risk across continents. In Australian families, > or =2 patients with MPM, median age at melanoma diagnosis < or =40 years and > or =6 patients with melanoma in a family jointly predicted the mutation risk. In European families, all four factors concurrently predicted the risk, but with less stringent criteria than in Australia. In North American families, only > or =1 patient with MPM and age at diagnosis < or =40 years simultaneously predicted the mutation risk. CONCLUSIONS: The variation in CDKN2A mutations for the four features across continents is consistent with the lower melanoma incidence rates in Europe and higher rates of sporadic melanoma in Australia. The lack of a pancreatic cancer-CDKN2A mutation relationship in Australia probably reflects the divergent spectrum of mutations in families from Australia versus those from North America and Europe. GenoMEL is exploring candidate host, genetic and/or environmental risk factors to better understand the variation observed.


Assuntos
Inibidor p16 de Quinase Dependente de Ciclina/genética , Mutação em Linhagem Germinativa , Melanoma/genética , Neoplasias Cutâneas/genética , Austrália/epidemiologia , Europa (Continente)/epidemiologia , Feminino , Variação Genética , Humanos , Incidência , Masculino , Melanoma/epidemiologia , América do Norte/epidemiologia , Neoplasias Cutâneas/epidemiologia
20.
Rev. colomb. cardiol ; 12(2): 80-84, jul.-ago. 2005. ilus, tab
Artigo em Espanhol | LILACS | ID: lil-437281

RESUMO

Introducción: estudios experimentales y clínicos demuestran que la implantación intramiocárdica de células progenitoras derivadas de la médula ósea, produce angiogénesis y mejora la función cardiaca en pacientes con cardiopatía isquémica crónica.Metodología: este es el reporte del seguimiento a dos meses de un paciente con cardiopatía isquémica crónica no susceptible de revascularización quirúrgica o percutánea, a quien se le realizó, por vía epicárdica, un implánte de células progenitoras derivadas de médula ósea movilizadas con factor de crecimiento granulocito-macrófago.Resultados: se demostró mejoría significativa en la sintomatología, en la capacidad funcional (1.8 MET a 10 MET), en el estado funcional (IV a I), en el tamaño del defecto de perfusión miocárdica por medicina nuclear, en la fracción de eyección y en la disminución del volumen sistólico final del ventrículo izquierdo, sin observar complicaciones relacionadas con el procedimiento.Conclusión: el trasplante de células progenitoras derivadas de la médula ósea es una terapia efectiva y segura para promover neovascularización y para mejorar la contractilidad y la perfusión miocárdica en los pacientes con cardiopatía isquémica crónica pobres candidatos a cirugía.


Assuntos
Medula Óssea , Isquemia Miocárdica , Células-Tronco
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