Suchergebnisse

<i>Objective:</i> To evaluate the consumption of flour derivatives and folate-rich food in a sample of women at childbearing age from Porto Alegre, Brazil. <i>Methods:</i> Four-hundred women at childbearing age (15–45 years) were interviewed, and their socioeconomic status and folate intake were investigated. All women signed an informed consent form. Based on their dietary habits, an estimated calculation of the amount of flour intake was done. <i>Results:</i> Mean daily intake of folate was 220.1 µg. The intake of flour was 176 g/day/woman. The combined intake of folate from folate-rich foods and flour derivatives (wheat and/or corn flour) was 404.7 µg/day/person. <i>Conclusion:</i> Since the recommended daily allowance of folic acid is 400 µg/day, including both folate from food sources and supplements, the addition of folic acid to wheat flour was essential to ensure the intake of the minimum recommended amount. However, there is no guarantee that this amount was maintained on this Brazilian sample when losses resulting from cooking and/or from UV radiation (not considered in this study) are computed.

The Information Service on Inborn Errors of Metabolism (SIEM), a pioneer toll-free service in both Brazil and South America, is based in Porto Alegre, Southern Brazil. SIEM has been operating since October 2001 providing support to health care professionals involved in the diagnosis and management of suspected metabolic diseases. We analyzed the demographic and clinical characteristics of the 376 consults received and followed in the first two and half years of SIEM. Our results show that the suspicion of a metabolic disease was most often associated with neurological symptoms. Among the consults, 24.4% were eventually confirmed as inborn errors of metabolism (IEM), with organic acidurias and amino acid disorders being the two most frequent diagnostic groups. Our conclusion shows this kind of service to provide helpful support to the diagnosis and acute management of IEM, especially to health professionals working in developing countries who are often far from reference centers.

In Brazil, genetic counseling is usually available in university-affiliated medical genetics services located in tertiary centers that provide cancer diagnosis and treatment. The present study aims to describe the structure and characteristics of three cancer genetic services in Brazilian public health care hospitals and discuss alternatives for the identification and prevention of hereditary cancer syndromes in developing countries. The three services presented here are similar in their structure, routine procedures for cancer risk estimation and criteria for the indication of genetic testing. They all demand that genetic counseling be an essential part of the cancer risk evaluation process, before and after cancer predisposition testing. However, when high-risk patients are identified, all services describe difficulties in the access and continuity of genetic and medical services to the patient and his/her at-risk relatives. The services differ in the type of population served, reflecting distinct referral guidelines. This study emphasizes the importance of the creation of new cancer genetic services in other Brazilian regions and the necessity for establishing a collaborative network to facilitate the diagnosis and research of cancer genetic syndromes.

Birth defects contribute up to 21% of the mortality in those under 5 years of age in Latin America and the Caribbean (LAC), and that burden has been compounded by the Zika virus epidemic. In 2001, the March of Dimes launched a series of biennial assemblies called the International Conference on Birth Defects and Disabilities in the Developing World (ICBD). The latest ICBD, in 2017, convened in Bogotá, Colombia, and was attended by over 300 professionals, policymakers, and donors. The conference attendees, a majority of whom were from LAC, supported a call to action in the form of a consensus statement. The consensus statement lists key actions for maximizing birth defects surveillance, prevention, and care in LAC: 1) improving surveillance; 2) reducing risks for birth defects; 3) fortifying staple foods; 4) preventing and treating infections associated with birth defects; 5) implementing newborn screening; 6) providing care and services for people with birth defects and disabilities; 7) involving governments, civil society, and international agencies; and 8) advancing research for birth defects. Implementation and scale-up of evidence-based interventions using multisectoral and multidisciplinary collaborative approaches were endorsed. LAC countries can leverage technology and social media to advance and advocate for approaches identified in the consensus statement. The consensus statement can be used as a guide by both governments and nongovernmental agencies to take immediate steps for improving the quality of life of those living with birth defects and associated disabilities in the LAC countries. ; Los defectos congénitos contribuyen hasta con el 21% de la mortalidad de los menores de 5 años en América Latina y el Caribe (ALC); la epidemia de síndrome congénito por el virus del Zika aumentó esa carga. En el 2001, la organización March of Dimes instituyó una serie de asambleas bienales denominadas Conferencia internacional sobre defectos congénitos y discapacidades en el mundo en desarrollo (ICBD). La más reciente, en el 2017, se llevó a cabo en Bogotá (Colombia) y contó con la presencia de más de 300 profesionales, responsables de las políticas y donantes. Los asistentes a la conferencia, en su mayoría de América Latina y el Caribe, apoyaron un llamamiento a la acción en forma de una declaración de consenso. Dicha declaración enumera las acciones clave para potenciar al máximo la vigilancia, la prevención y la atención de los defectos congénitos en América Latina y el Caribe, a saber: 1) mejorar la vigilancia; 2) reducir los factores de riesgo asociados a defectos congénitos; 3) fortificar los alimentos de primera necesidad; 4) prevenir y tratar las infecciones asociadas con los defectos congénitos; 5) instituir programas de tamizaje a los recién nacidos; 6) prestar atención y servicios a las personas con defectos congénitos y discapacidades; 7) hacer participar a los gobiernos, la sociedad civil y los organismos internacionales; y 8) promover la investigación sobre los defectos congénitos. Se respaldaron la ejecución y la ampliación a mayor escala de las intervenciones basadas en evidencia, con enfoques colaborativos multisectoriales y multidisciplinarios. Los países de América Latina y el Caribe pueden aprovechar la tecnología y las redes sociales para impulsar y promover las estrategias mencionadas en la declaración de consenso. Por su parte, tanto los gobiernos como los organismos no gubernamentales pueden usar la declaración de consenso como una guía para ado ; As malformações congênitas constituem 21% das causas de morte em crianças menores de 5 anos na América Latina e no Caribe (ALC) e este ônus tem sido agravado pela epidemia do vírus zika. Em 2001, a March of Dimes lançou uma série de encontros bienais denominada International Conference on Birth Defects and Disabilities in the Developing World (conferência internacional sobre malformações congênitas e deficiências no mundo em desenvolvimento, ICBD). A última ICBD foi realizada em Bogotá, na Colômbia, em 2017 e contou com a participação de mais de 300 profissionais, formuladores de políticas e doadores. Os participantes da conferência, na sua maioria da ALC, demonstraram apoio a um chamado à ação na forma de uma declaração de consenso. Nela, enumeram-se as principais ações para aumentar ao máximo a vigilância, prevenção e atenção às malformações congênitas na ALC: 1) melhorar a vigilância; 2) reduzir os riscos de malformações congênitas; 3) fortificar os gêneros alimentícios de primeira necessidade; 4) prevenir e tratar as infecções associadas às malformações congênitas; 5) implementar testes de detecção em recém-nascidos; 6) prestar atendimento e serviços aos portadores de malformações congênitas e deficiências; 7) atrair a participação de governos, sociedade civil e organismos internacionais e 8) incentivar o progresso da pesquisa na área de malformações congênitas. Foram endossadas a implementação e a expansão das intervenções com fundamentação científica usando enfoques colaborativos multissetoriais e multidisciplinares. Os países da ALC devem se valer de tecnologia e das mídias sociais para promover e defender os enfoques identificados na declaração de consenso. A declaração pode servir como guia aos governos e organismos não governamentais ao tomarem medidas imediatas para melhorar a qualidade de vida de quem vive com malforma

[ABSTRACT]. Birth defects contribute up to 21% of the mortality in those under 5 years of age in Latin America and the Caribbean (LAC), and that burden has been compounded by the Zika virus epidemic. In 2001, the March of Dimes launched a series of biennial assemblies called the International Conference on Birth Defects and Disabilities in the Developing World (ICBD). The latest ICBD, in 2017, convened in Bogotá, Colombia, and was attended by over 300 professionals, policymakers, and donors. The conference attendees, a majority of whom were from LAC, supported a call to action in the form of a consensus statement. The consensus statement lists key actions for maximizing birth defects surveillance, prevention, and care in LAC: 1) improving surveillance; 2) reducing risks for birth defects; 3) fortifying staple foods; 4) preventing and treating infections associated with birth defects; 5) implementing newborn screening; 6) providing care and services for people with birth defects and disabilities; 7) involving governments, civil society, and international agencies; and 8) advancing research for birth defects. Implementation and scale-up of evidence-based interventions using multisectoral and multidisciplinary collaborative approaches were endorsed. LAC countries can leverage technology and social media to advance and advocate for approaches identified in the consensus statement. The consensus statement can be used as a guide by both governments and nongovernmental agencies to take immediate steps for improving the quality of life of those living with birth defects and associated disabilities in the LAC countries. ; [RESUMEN]. Los defectos congénitos contribuyen hasta con el 21% de la mortalidad de los menores de 5 años en América Latina y el Caribe (ALC); la epidemia de síndrome congénito por el virus del Zika aumentó esa carga. En el 2001, la organización March of Dimes instituyó una serie de asambleas bienales denominadas Conferencia internacional sobre defectos congénitos y discapacidades en el mundo en desarrollo (ICBD). La más reciente, en el 2017, se llevó a cabo en Bogotá (Colombia) y contó con la presencia de más de 300 profesionales, responsables de las políticas y donantes. Los asistentes a la conferencia, en su mayoría de América Latina y el Caribe, apoyaron un llamamiento a la acción en forma de una declaración de consenso. Dicha declaración enumera las acciones clave para potenciar al máximo la vigilancia, la prevención y la atención de los defectos congénitos en América Latina y el Caribe, a saber: 1) mejorar la vigilancia; 2) reducir los factores de riesgo asociados a defectos congénitos; 3) fortificar los alimentos de primera necesidad; 4) prevenir y tratar las infecciones asociadas con los defectos congénitos; 5) instituir programas de tamizaje a los recién nacidos; 6) prestar atención y servicios a las personas con defectos congénitos y discapacidades; 7) hacer participar a los gobiernos, la sociedad civil y los organismos internacionales; y 8) promover la investigación sobre los defectos congénitos. Se respaldaron la ejecución y la ampliación a mayor escala de las intervenciones basadas en evidencia, con enfoques colaborativos multisectoriales y multidisciplinarios. Los países de América Latina y el Caribe pueden aprovechar la tecnología y las redes sociales para impulsar y promover las estrategias mencionadas en la declaración de consenso. Por su parte, tanto los gobiernos como los organismos no gubernamentales pueden usar la declaración de consenso como una guía para adoptar medidas inmediatas para mejorar la calidad de vida de las personas con defectos congénitos y las discapacidades asociadas, en los países de América Latina y el Caribe. ; [RESUMO]. As malformações congênitas constituem 21% das causas de morte em crianças menores de 5 anos na América Latina e no Caribe (ALC) e este ônus tem sido agravado pela epidemia do vírus zika. Em 2001, a March of Dimes lançou uma série de encontros bienais denominada International Conference on Birth Defects and Disabilities in the Developing World (conferência internacional sobre malformações congênitas e deficiências no mundo em desenvolvimento, ICBD). A última ICBD foi realizada em Bogotá, na Colômbia, em 2017 e contou com a participação de mais de 300 profissionais, formuladores de políticas e doadores. Os participantes da conferência, na sua maioria da ALC, demonstraram apoio a um chamado à ação na forma de uma declaração de consenso. Nela, enumeram-se as principais ações para aumentar ao máximo a vigilância, prevenção e atenção às malformações congênitas na ALC: 1) melhorar a vigilância; 2) reduzir os riscos de malformações congênitas; 3) fortificar os gêneros alimentícios de primeira necessidade; 4) prevenir e tratar as infecções associadas às malformações congênitas; 5) implementar testes de detecção em recém-nascidos; 6) prestar atendimento e serviços aos portadores de malformações congênitas e deficiências; 7) atrair a participação de governos, sociedade civil e organismos internacionais e 8) incentivar o progresso da pesquisa na área de malformações congênitas. Foram endossadas a implementação e a expansão das intervenções com fundamentação científica usando enfoques colaborativos multissetoriais e multidisciplinares. Os países da ALC devem se valer de tecnologia e das mídias sociais para promover e defender os enfoques identificados na declaração de consenso. A declaração pode servir como guia aos governos e organismos não governamentais ao tomarem medidas imediatas para melhorar a qualidade de vida de quem vive com malformações congênitas e deficiências associadas nos países da ALC.

Birth defects contribute up to 21% of the mortality in those under 5 years of age in Latin America and the Caribbean (LAC), and that burden has been compounded by the Zika virus epidemic. In 2001, the March of Dimes launched a series of biennial assemblies called the International Conference on Birth Defects and Disabilities in the Developing World (ICBD). The latest ICBD, in 2017, convened in Bogotá, Colombia, and was attended by over 300 professionals, policymakers, and donors. The conference attendees, a majority of whom were from LAC, supported a call to action in the form of a consensus statement. The consensus statement lists key actions for maximizing birth defects surveillance, prevention, and care in LAC: 1) improving surveillance; 2) reducing risks for birth defects; 3) fortifying staple foods; 4) preventing and treating infections associated with birth defects; 5) implementing newborn screening; 6) providing care and services for people with birth defects and disabilities; 7) involving governments, civil society, and international agencies; and 8) advancing research for birth defects. Implementation and scale-up of evidence-based interventions using multisectoral and multidisciplinary collaborative approaches were endorsed. LAC countries can leverage technology and social media to advance and advocate for approaches identified in the consensus statement. The consensus statement can be used as a guide by both governments and nongovernmental agencies to take immediate steps for improving the quality of life of those living with birth defects and associated disabilities in the LAC countries.

Los defectos congénitos contribuyen hasta con el 21% de la mortalidad de los menores de 5 años en América Latina y el Caribe (ALC); la epidemia de síndrome congénito por el virus del Zika aumentó esa carga. En el 2001, la organización March of Dimes instituyó una serie de asambleas bienales denominadas Conferencia internacional sobre defectos congénitos y discapacidades en el mundo en desarrollo (ICBD). La más reciente, en el 2017, se llevó a cabo en Bogotá (Colombia) y contó con la presencia de más de 300 profesionales, responsables de las políticas y donantes. Los asistentes a la conferencia, en su mayoría de América Latina y el Caribe, apoyaron un llamamiento a la acción en forma de una declaración de consenso. Dicha declaración enumera las acciones clave para potenciar al máximo la vigilancia, la prevención y la atención de los defectos congénitos en América Latina y el Caribe, a saber: 1) mejorar la vigilancia; 2) reducir los factores de riesgo asociados a defectos congénitos; 3) fortificar los alimentos de primera necesidad; 4) prevenir y tratar las infecciones asociadas con los defectos congénitos; 5) instituir programas de tamizaje a los recién nacidos; 6) prestar atención y servicios a las personas con defectos congénitos y discapacidades; 7) hacer participar a los gobiernos, la sociedad civil y los organismos internacionales; y 8) promover la investigación sobre los defectos congénitos. Se respaldaron la ejecución y la ampliación a mayor escala de las intervenciones basadas en evidencia, con enfoques colaborativos multisectoriales y multidisciplinarios. Los países de América Latina y el Caribe pueden aprovechar la tecnología y las redes sociales para impulsar y promover las estrategias mencionadas en la declaración de consenso. Por su parte, tanto los gobiernos como los organismos no gubernamentales pueden usar la declaración de consenso como una guía para adoptar medidas inmediatas para mejorar la calidad de vida de las personas con defectos congénitos y las discapacidades asociadas, en los países de América Latina y el Caribe. ; Q4 ; Q2 ; Opinión y análisis ; 1-6 ; Birth defects contribute up to 21% of the mortality in those under 5 years of age in Latin America and the Caribbean (LAC), and that burden has been compounded by the Zika virus epidemic. In 2001, the March of Dimes launched a series of biennial assemblies called the International Conference on Birth Defects and Disabilities in the Developing World (ICBD). The latest ICBD, in 2017, convened in Bogotá, Colombia, and was attended by over 300 professionals, policymakers, and donors. The conference attendees, a majority of whom were from LAC, supported a call to action in the form of a consensus statement. The consensus statement lists key actions for maximizing birth defects surveillance, prevention, and care in LAC: 1) improving surveillance; 2) reducing risks for birth defects; 3) fortifying staple foods; 4) preventing and treating infections associated with birth defects; 5) implementing newborn screening; 6) providing care and services for people with birth defects and disabilities; 7) involving governments, civil society, and international agencies; and 8) advancing research for birth defects. Implementation and scale-up of evidence-based interventions using multisectoral and multidisciplinary collaborative approaches were endorsed. LAC countries can leverage technology and social media to advance and advocate for approaches identified in the consensus statement. The consensus statement can be used as a guide by both governments and nongovernmental agencies to take immediate steps for improving the quality of life of those living with birth defects and associated disabilities in the LAC countries.

<b><i>Background:</i></b> Intellectual disability (ID), characterized by impairments in intellectual function and adaptive behavior, affects 1-3% of the population. Many studies investigated its etiology, but few are cohort studies in middle-income countries. <b><i>Aims:</i></b> To estimate prevalence, etiology, and factors related to ID among children prospectively followed since birth in a Southern Brazilian city (Pelotas). <b><i>Methods:</i></b> In 2004, maternity hospitals were visited daily and births were identified. Live-born infants (n = 4,231) whose family lived in the urban area have been followed for several years. At the age of 2 and 4 years, performances in development and intelligence tests were evaluated using the Battelle Developmental Inventory and Wechsler Intelligence Scale, respectively. Children considered as having developmental delay were invited to attend a genetic evaluation. <b><i>Results:</i></b> At 4 years of age, the prevalence of ID was 4.5%, and the etiology was classified into 5 groups: environmental (44.4%), genetic (20.5%), idiopathic (12.6%), neonatal sequelae (13.2%), other diseases (9.3%). Most children presented impairment in two or more areas of adaptive behavior. There was no difference in prenatal care attendance or maternal schooling among the groups. <b><i>Conclusion:</i></b> For about 40% of children, ID was attributed to nonbiological factors, suggesting that the rate may be reduced with appropriate interventions early in life.

Los defectos congénitos contribuyen hasta con el 21% de la mortalidad de los menores de 5 años en América Latina y el Caribe (ALC); la epidemia de síndrome congénito por el virus del Zika aumentó esa carga. En el 2001, la organización March of Dimes instituyó una serie de asambleas bienales denominadas Conferencia internacional sobre defectos congénitos y discapacidades en el mundo en desarrollo (ICBD). La más reciente, en el 2017, se llevó a cabo en Bogotá (Colombia) y contó con la presencia de más de 300 profesionales, responsables de las políticas y donantes. Los asistentes a la conferencia, en su mayoría de América Latina y el Caribe, apoyaron un llamamiento a la acción en forma de una declaración de consenso. Dicha declaración enumera las acciones clave para potenciar al máximo la vigilancia, la prevención y la atención de los defectos congénitos en América Latina y el Caribe, a saber: 1) mejorar la vigilancia; 2) reducir los factores de riesgo asociados a defectos congénitos; 3) fortificar los alimentos de primera necesidad; 4) prevenir y tratar las infecciones asociadas con los defectos congénitos; 5) instituir programas de tamizaje a los recién nacidos; 6) prestar atención y servicios a las personas con defectos congénitos y discapacidades; 7) hacer participar a los gobiernos, la sociedad civil y los organismos internacionales; y 8) promover la investigación sobre los defectos congénitos. Se respaldaron la ejecución y la ampliación a mayor escala de las intervenciones basadas en evidencia, con enfoques colaborativos multisectoriales y multidisciplinarios. Los países de América Latina y el Caribe pueden aprovechar la tecnología y las redes sociales para impulsar y promover las estrategias mencionadas en la declaración de consenso. Por su parte, tanto los gobiernos como los organismos no gubernamentales pueden usar la declaración de consenso como una guía para adoptar medidas inmediatas para mejorar la calidad de vida de las personas con defectos congénitos y las discapacidades asociadas, en los países de América Latina y el Caribe. ; Q2 ; 1-6 ; Birth defects contribute up to 21% of the mortality in those under 5 years of age in Latin America and the Caribbean (LAC), and that burden has been compounded by the Zika virus epidemic. In 2001, the March of Dimes launched a series of biennial assemblies called the International Conference on Birth Defects and Disabilities in the Developing World (ICBD). The latest ICBD, in 2017, convened in Bogotá, Colombia, and was attended by over 300 professionals, policymakers, and donors. The conference attendees, a majority of whom were from LAC, supported a call to action in the form of a consensus statement. The consensus statement lists key actions for maximizing birth defects surveillance, prevention, and care in LAC: 1) improving surveillance; 2) reducing risks for birth defects; 3) fortifying staple foods; 4) preventing and treating infections associated with birth defects; 5) implementing newborn screening; 6) providing care and services for people with birth defects and disabilities; 7) involving governments, civil society, and international agencies; and 8) advancing research for birth defects. Implementation and scale-up of evidence-based interventions using multisectoral and multidisciplinary collaborative approaches were endorsed. LAC countries can leverage technology and social media to advance and advocate for approaches identified in the consensus statement. The consensus statement can be used as a guide by both governments and nongovernmental agencies to take immediate steps for improving the quality of life of those living with birth defects and associated disabilities in the LAC countries.

ABSTRACTObjectiveMucopolysaccharidosis (MPS) VI is a rare disorder caused by an autosomal recessive mutation in the short arm of chromosome 5 (5q12‐13) leading to an N‐acetylgalactosamine‐sulfatase lysosomal enzyme deficiency and numerous systemic clinical changes. The oral and maxillofacial complex may exhibit tooth eruption anomalies, macroglossia, gingival hypertrophy, mouth breathing, increased lower facial height, open bite, retrognathia, and progressive TMJ arthrosis. This report describes craniofacial growth changes in two MPS VI patients, sisters and daughters of outbred parents, who were longitudinally monitored from 11 to 15 years of age.Study DesignSkull lateral teleradiography and cephalometric tracings were performed. The measurements were assessed in the anteroposterior and vertical directions based on protocols by McNamara and Usp/Unicamp and compared to the normal reported ranges.ResultsA similar skeletal class III malocclusion was observed in both patients. The jaw was retruded, the anterior skull base decreased, and the mandibular body was normal or larger than normal. The vertical growth direction differed between the patients; one was hyperdivergent, while the other was hypodivergent.ConclusionsBy understanding the craniofacial growth changes in MPS VI patients, new treatment options may be developed for affected patients.

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. ; GenoMEL ; National Cancer Institute of the US National Institutes of Health ; Fondo de Investigaciones Sanitarias, Spain ; CIBER de Enfermedades Raras of the Instituto de Salud Carlos III, Spain ; Catalan Government, Spain ; European Commission ; Instituto de Salud Carlos III, Spain ; Consejo Nacional de Ciencia y Tecnologia (CONACYT), Mexico ; Fundacao para o Amparo da Pesquisa do Estado de Sao Paulo (FAPESP), Sao Paulo, Brazil ; Brazilian Post-Graduation Agency Capes (Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior) ; Comision Honoraria de Lucha Contra el Cancer and Fundacion Manuel Perez, Montevideo, Uruguay ; Hosp Clin & IDIBAPS, Dept Dermatol, Melanoma Unit, Inst Invest Biomed August Pi I Sunyer, Barcelona, Spain ; Inst Salud Carlos III, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain ; Univ Barcelona, Dept Med, Barcelona, Spain ; Consejo Nacl Ciencia & Tecnol CONACYT, Mexico City, DF, Mexico ; Hosp Clin & IDIBAPS, Inst Invest Biomed August Pi I Sunyer, Biochem & Mol Genet Dept, Melanoma Unit, Barcelona, Spain ; Inst Valenciano Oncol, Dept Dermatol, Valencia, Spain ; Univ Cattolica Valencia, Valencia, Spain ; Inst Valenciano Oncol, Mol Biol Unit, Valencia, Spain ; German Canc Res Ctr, Div Mol Genet Epidemiol, Heidelberg, Germany ; Univ Fed Sao Paulo, Escola Paulista Med, Sao Paulo, Brazil ; AC Camargo Canc Ctr, Int Res Ctr, Sao Paulo, Brazil ; Univ Fed Ciencias Saude Porto Alegre, Dept Dermatol, Porto Alegre, RS, Brazil ; Univ Fed Ciencias Saude Porto Alegre, Postgrad Program Pathol, Porto Alegre, RS, Brazil ; Hosp Dr Sotero del Rio, Serv Dermatol, Santiago, Chile ; Hosp San Juan Dios, Serv Dermatol, Santiago, Chile ; Pontificia Univ Catolica Chile, Santiago, Chile ; Univ Fed Rio Grande do Sul, Hosp Clin Porto Alegre, Dept Dermatol, Porto Alegre, RS, Brazil ; Univ Republica, Hosp Clin, Unidad Les Pigmentadas, Catedra Dermatol, Montevideo, Uruguay ; Univ Buenos Aires, Inst Invest Med A Lanari, Buenos Aires, DF, Argentina ; Consultorio Dermatol Drs Cohen Sabban & Cabo, Buenos Aires, DF, Argentina ; Hosp Especialidades Ctr Med Nacl La Raza, Mexico City, DF, Mexico ; Univ Monterrey, Escuela Med, Dept Ciencias Basicas, Monterrey, Mexico ; Univ Autonoma Nuevo Leon, Fac Med, Dept Introducc Clin, Monterrey, Mexico ; Hosp Univ Dr Jose Eleuterio Gonzalez, Serv Dermatol, Monterrey, Mexico ; Univ Fed Sao Paulo, Escola Paulista Med, Sao Paulo, Brazil ; GenoMEL: LSHC-CT-2006-018702 ; National Cancer Institute of the US National Institutes of Health: CA83115 ; Fondo de Investigaciones Sanitarias, Spain: 03/0019 ; Fondo de Investigaciones Sanitarias, Spain: 05/0302 ; Fondo de Investigaciones Sanitarias, Spain: 06/0265 ; Fondo de Investigaciones Sanitarias, Spain: 09/1393 ; Fondo de Investigaciones Sanitarias, Spain: 12/00840 ; Catalan Government, Spain: AGAUR 2014_SGR_603 ; Consejo Nacional de Ciencia y Tecnologia (CONACYT), Mexico: 152256/158706 ; FAPESP: 2007/04313-2 ; Web of Science