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1.
Recurso na Internet em Inglês, Espanhol, Português | LIS - Localizador de Informação em Saúde | ID: lis-49616

RESUMO

Profissionais de saúde pública e de direito, uma deputada e organizações da sociedade civil da Argentina, Brasil, Colômbia e Uruguai foram reconhecidos hoje pela Organização Mundial da Saúde (OMS) com prêmios alusivos ao Dia Mundial sem Tabaco 2024.


Assuntos
Organização Mundial da Saúde , América/etnologia , Controle do Tabagismo
2.
Recurso na Internet em Inglês, Espanhol, Francês, Português | LIS - Localizador de Informação em Saúde | ID: lis-49617

RESUMO

Os casos de sífilis entre adultos de 15 a 49 anos aumentaram 30% entre 2020 e 2022 nas Américas, segundo o mais recente relatório da Organização Mundial da Saúde (OMS) "Implementação das estratégias globais do setor da saúde sobre HIV, hepatites virais e infecções sexualmente transmissíveis, 2022–2030".


Assuntos
Sífilis , América/etnologia
3.
Recurso na Internet em Inglês, Espanhol, Francês, Português | LIS - Localizador de Informação em Saúde | ID: lis-49527

RESUMO

pós o impacto da pandemia da COVID-19 nas Américas, é necessário priorizar e melhorar a saúde de crianças e adolescentes nos países da região, afirmou o diretor da Organização Pan-Americana da Saúde (OPAS), Jarbas Barbosa, enfatizando a importância de manter o foco na equidade nesses esforços.


Assuntos
Equidade , Saúde da Criança , América/etnologia , Saúde do Adolescente
4.
Recurso na Internet em Português | LIS - Localizador de Informação em Saúde | ID: lis-49509

RESUMO

Após nove anos de esforços, especialistas concluíram o desenvolvimento de uma metodologia padronizada e validada para diagnóstico molecular da leishmaniose cutânea nas Américas.


Assuntos
Leishmaniose Cutânea/diagnóstico , Organização Pan-Americana da Saúde , América/etnologia
5.
Nature ; 622(7984): 784-793, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37821707

RESUMO

The Mexico City Prospective Study is a prospective cohort of more than 150,000 adults recruited two decades ago from the urban districts of Coyoacán and Iztapalapa in Mexico City1. Here we generated genotype and exome-sequencing data for all individuals and whole-genome sequencing data for 9,950 selected individuals. We describe high levels of relatedness and substantial heterogeneity in ancestry composition across individuals. Most sequenced individuals had admixed Indigenous American, European and African ancestry, with extensive admixture from Indigenous populations in central, southern and southeastern Mexico. Indigenous Mexican segments of the genome had lower levels of coding variation but an excess of homozygous loss-of-function variants compared with segments of African and European origin. We estimated ancestry-specific allele frequencies at 142 million genomic variants, with an effective sample size of 91,856 for Indigenous Mexican ancestry at exome variants, all available through a public browser. Using whole-genome sequencing, we developed an imputation reference panel that outperforms existing panels at common variants in individuals with high proportions of central, southern and southeastern Indigenous Mexican ancestry. Our work illustrates the value of genetic studies in diverse populations and provides foundational imputation and allele frequency resources for future genetic studies in Mexico and in the United States, where the Hispanic/Latino population is predominantly of Mexican descent.


Assuntos
Sequenciamento do Exoma , Genoma Humano , Genótipo , Hispânico ou Latino , Adulto , Humanos , África/etnologia , América/etnologia , Europa (Continente)/etnologia , Frequência do Gene/genética , Genética Populacional , Genoma Humano/genética , Técnicas de Genotipagem , Hispânico ou Latino/genética , Homozigoto , Mutação com Perda de Função/genética , México , Estudos Prospectivos
6.
Recurso na Internet em Inglês, Espanhol, Francês, Português | LIS - Localizador de Informação em Saúde | ID: lis-49352

RESUMO

Nas vésperas do Dia Mundial da Hipertensão (17 de maio), o diretor da Organização Pan-Americana da Saúde (OPAS), Jarbas Barbosa, instou os países a intensificarem os esforços para melhorar o controle da hipertensão, uma medida que pode salvar cerca de 420 mil vidas nas Américas a cada ano.


Assuntos
Hipertensão , América/etnologia
7.
Recurso na Internet em Inglês, Espanhol, Português | LIS - Localizador de Informação em Saúde | ID: lis-49304

RESUMO

Etiquetas de advertência na frente das embalagens, restrições à comercialização de produtos processados ​​e ultraprocessados ​​com alto teor de gordura, açúcar e sal e impostos sobre alimentos e bebidas não saudáveis ​​são algumas das medidas propostas pela Organização Pan-Americana de Saúde (OPAS) para enfrentar a obesidade na região das Américas.


Assuntos
Doenças não Transmissíveis/prevenção & controle , América/etnologia , Obesidade/prevenção & controle , Organização Pan-Americana da Saúde/organização & administração
8.
Recurso na Internet em Inglês, Espanhol, Francês, Português | LIS - Localizador de Informação em Saúde | ID: lis-49305

RESUMO

Um novo estudo da Organização Pan-Americana da Saúde (OPAS) e parceiros publicado hoje no The Lancet Regional Health - Americas destaca a importância de levar em conta os determinantes sociais de mortes por suicídio específicos de gênero ao desenvolver intervenções de redução de risco e estratégias de prevenção.


Assuntos
Suicídio/psicologia , América/etnologia , Prevenção Primária
9.
Recurso na Internet em Inglês, Espanhol, Português | LIS - Localizador de Informação em Saúde | ID: lis-49244

RESUMO

A Organização Pan-Americana de Saúde (OPAS) emitiu um alerta em resposta à crescente detecção de surtos de gripe aviária em aves em dez países da Região das Américas, e à recente confirmação do primeiro caso de infecção humana de gripe aviária A(H5) na América do Sul.


Assuntos
Influenza Aviária , América/etnologia
10.
Nature ; 592(7853): 253-257, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33828320

RESUMO

Modern humans appeared in Europe by at least 45,000 years ago1-5, but the extent of their interactions with Neanderthals, who disappeared by about 40,000 years ago6, and their relationship to the broader expansion of modern humans outside Africa are poorly understood. Here we present genome-wide data from three individuals dated to between 45,930 and 42,580 years ago from Bacho Kiro Cave, Bulgaria1,2. They are the earliest Late Pleistocene modern humans known to have been recovered in Europe so far, and were found in association with an Initial Upper Palaeolithic artefact assemblage. Unlike two previously studied individuals of similar ages from Romania7 and Siberia8 who did not contribute detectably to later populations, these individuals are more closely related to present-day and ancient populations in East Asia and the Americas than to later west Eurasian populations. This indicates that they belonged to a modern human migration into Europe that was not previously known from the genetic record, and provides evidence that there was at least some continuity between the earliest modern humans in Europe and later people in Eurasia. Moreover, we find that all three individuals had Neanderthal ancestors a few generations back in their family history, confirming that the first European modern humans mixed with Neanderthals and suggesting that such mixing could have been common.


Assuntos
DNA Antigo/análise , Genoma Humano/genética , Homem de Neandertal/genética , Alelos , América/etnologia , Animais , Arqueologia , Bulgária/etnologia , Cavernas , Ásia Oriental/etnologia , Feminino , História Antiga , Humanos , Masculino , Filogenia
11.
Hum Mol Genet ; 30(R1): R79-R87, 2021 04 26.
Artigo em Inglês | MEDLINE | ID: mdl-33331897

RESUMO

During the Trans-Atlantic Slave Trade (TAST), around twelve million Africans were enslaved and forcibly moved from Africa to the Americas and Europe, durably influencing the genetic and cultural landscape of a large part of humanity since the 15th century. Following historians, archaeologists, and anthropologists, population geneticists have, since the 1950's mainly, extensively investigated the genetic diversity of populations on both sides of the Atlantic. These studies shed new lights into the largely unknown genetic origins of numerous enslaved-African descendant communities in the Americas, by inferring their genetic relationships with extant African, European, and Native American populations. Furthermore, exploring genome-wide data with novel statistical and bioinformatics methods, population geneticists have been increasingly able to infer the last 500 years of admixture histories of these populations. These inferences have highlighted the diversity of histories experienced by enslaved-African descendants, and the complex influences of socioeconomic, political, and historical contexts on human genetic diversity patterns during and after the slave trade. Finally, the recent advances of paleogenomics unveiled crucial aspects of the life and health of the first generation of enslaved-Africans in the Americas. Altogether, human population genetics approaches in the genomic and paleogenomic era need to be coupled with history, archaeology, anthropology, and demography in interdisciplinary research, to reconstruct the multifaceted and largely unknown history of the TAST and its influence on human biological and cultural diversities today. Here, we review anthropological genomics studies published over the past 15 years and focusing on the history of enslaved-African descendant populations in the Americas.


Assuntos
População Negra/genética , Pessoas Escravizadas/história , Genética Populacional/métodos , Genômica/métodos , América/etnologia , Antropologia , Oceano Atlântico , Escravização/etnologia , Escravização/história , História do Século XV , Humanos , Paleografia
12.
Recurso na Internet em Português | LIS - Localizador de Informação em Saúde | ID: lis-46911

RESUMO

Lançado na última segunda-feira (18), novo relatório da Organização Pan-Americana da Saúde/Organização Mundial da Saúde (OPAS/OMS) destaca que um em cada cinco homens da região morre antes dos 50 anos – muitas dessas mortes estão diretamente relacionadas a uma “masculinidade tóxica”.


Assuntos
Masculinidade , Saúde do Homem , América/etnologia
13.
Sci Rep ; 9(1): 17437, 2019 11 25.
Artigo em Inglês | MEDLINE | ID: mdl-31767874

RESUMO

The economic growth has paralleled the rise of diabetes and its complications in multiethnic population of United Arab Emirates (UAE). Previous studies have shown that characteristics of diabetes is variable across different ethnicities. The objective of this study was to compare diabetes prevalence and risk factors between UAE nationals and different expatriate's ethnic groups in UAE using data from UAE National Diabetes and Lifestyle Study (UAEDIAB). The UAE nationals made one-fourth (n = 797, 25%) of total cohort and the remaining 75% belonged to immigrants. Across different ethnicities, adjusted prevalence of prediabetes ranged from 8% to 17%, while adjusted prevalence of newly diagnosed diabetes ranged from 3% to 13%. UAE nationals, Arabs non-nationals and Asians had the highest number of pre-diabetic as well as newly diagnosed diabetic patients. Adjusted prevalence of diabetes was highest in UAE nationals (male 21% and female 23%) as well as Asian non-Arabs (male 23% and female 20%), where 40% of both groups fell under the range of either prediabetes or diabetes conditions. Multivariate factors of diabetes versus non-diabetes included older age, ethnicities of Asian non-Arabs and local UAE nationals, family history of diabetes, obesity, snoring, decreased level of high density lipoprotein, elevated levels of triglycerides and blood pressure. In conclusion, diabetes prevalence and risk factors vary across the different ethnic groups in UAE, and hence interventions towards identification and prevention of diabetes should not treat all patients alike.


Assuntos
Diabetes Mellitus/etnologia , Estado Pré-Diabético/etnologia , Adulto , África/etnologia , Idoso , América/etnologia , Árabes/estatística & dados numéricos , Povo Asiático/estatística & dados numéricos , Estudos Transversais , Dislipidemias/etnologia , Emigrantes e Imigrantes/estatística & dados numéricos , Etnicidade/estatística & dados numéricos , Europa (Continente)/etnologia , Feminino , Humanos , Hipertensão/etnologia , Lipoproteínas HDL/sangue , Masculino , Pessoa de Meia-Idade , Obesidade/etnologia , Prevalência , Fatores de Risco , Ronco , Emirados Árabes Unidos/epidemiologia
14.
PLoS One ; 14(6): e0218706, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31233524

RESUMO

Late diagnosis and treatment may increase morbidity and mortality among persons with hepatitis C virus (HCV) infection. We included all participants of the Swiss Hepatitis C Cohort Study (SCCS). We used unadjusted and adjusted logistic and Cox regressions to determine the association between the geographic origin of the participants and the following outcomes: antiviral treatment status; sustained virologic response; cirrhosis at enrolment; incident cirrhosis; loss to follow-up (LTFU); and mortality. The analyses were adjusted for sex, baseline age, education, source of income, alcohol consumption, injection drug use (IDU), HCV genotype, HIV or HBV coinfection, duration of HCV infection, time since enrolment, cirrhosis, (type of) HCV treatment, and centre at enrolment. Among 5,356 persons, 1,752 (32.7%) were foreign-born. IDU was more common among Swiss- (64.1%) than foreign-born (36.6%) persons. Cirrhosis at enrolment was more frequent among foreign- than Swiss-born persons, reflecting the high frequency of cirrhosis among Italian-born persons who acquired HCV between 1950 and 1970 in Italian healthcare settings. Although antiviral treatment coverage was similar, the sustained viral response rate was increased and the mortality was lower among foreign-vs. Swiss-born persons, with the lowest mortality in persons from Asia/Oceania. LTFU was more frequent in persons from Germany, Eastern and Southern Europe, and the Americas. In conclusion, in Switzerland, a country with universal healthcare, geographic origin had no influence on hepatitis C treatment access, and the better treatment outcomes among foreign-born persons were likely explained by their lower prevalence of IDU and alcohol consumption than among Swiss-born persons.


Assuntos
Hepatite C/epidemiologia , Adolescente , Adulto , Idoso , América/etnologia , Antivirais/uso terapêutico , Ásia/etnologia , Estudos de Coortes , Emigrantes e Imigrantes , Europa (Continente)/etnologia , Feminino , Alemanha/etnologia , Acessibilidade aos Serviços de Saúde , Hepatite C/tratamento farmacológico , Hepatite C/mortalidade , Humanos , Cirrose Hepática/epidemiologia , Masculino , Pessoa de Meia-Idade , Oceania/etnologia , Resposta Viral Sustentada , Suíça/epidemiologia , Resultado do Tratamento , Adulto Jovem
15.
Gac Sanit ; 33(5): 468-471, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-30205914

RESUMO

OBJECTIVE: To evaluate the differences between autochthonous and allochthonous women's participation in a breast cancer screening programme. METHOD: Retrospective study based on data from the Breast Cancer Screening Programme of the province of Tarragona (2008-2015). The sample is the target population of the programme with known country of origin. RESULTS: Cohort of 40,824 women. Allochthonous women participate less than autochthonous women (41.8% vs. 72.3%) although they have a similar global detection rate to the latter but with differences according to the human development index of their country of origin. Both groups present similar tumour stages on detection (p=.59). CONCLUSIONS: Strategies specifically aimed at the immigrant population are required to improve their participation in breast cancer screening.


Assuntos
Neoplasias da Mama/diagnóstico , Detecção Precoce de Câncer/estatística & dados numéricos , Emigrantes e Imigrantes/estatística & dados numéricos , Mamografia/estatística & dados numéricos , Programas de Rastreamento/estatística & dados numéricos , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Adulto , África/etnologia , Idoso , América/etnologia , Ásia/etnologia , Neoplasias da Mama/diagnóstico por imagem , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/patologia , Europa (Continente)/etnologia , Feminino , Humanos , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Oceania/etnologia , Utilização de Procedimentos e Técnicas , Estudos Retrospectivos , Espanha/epidemiologia
16.
Rev. medica electron ; 40(3): 680-690, may.-jun. 2018. ilus
Artigo em Espanhol | LILACS, CUMED | ID: biblio-961255

RESUMO

Introducción: la tuberculosis es la más antigua de las pandemias y causa alrededor de 1,7 millones de muertes y 9 millones de casos nuevos cada año constituyendo una enfermedad remergente en cuba por lo cual se realizó un estudio observacional descriptivo retrospectivo en el municipio de Matanzas en el período comprendido entre enero 2010 a diciembre del 2014. Objetivo: determinar el comportamiento clínico de la tuberculosis. Materiales y métodos: el universo del estudio fue el total de 41 pacientes con diagnóstico de tuberculosis en el municipio de Matanzas en el periodo estudiado y los datos fueron obtenidos del departamento de estadística del Centro Municipal de Higiene y Epidemiología. Resultados: predominó el sexo masculino con el 87,8% de los pacientes y el grupo de edades de 60 y más años con el 34,15 %. El grupo vulnerable más frecuente fue el de los alcohólicos 50,09% seguidos de los pacientes con 60 o más años con el 34,14%. Predominó el diagnóstico mediante el pesquisaje pasivo con el 65,85% de los pacientes. El síntoma más frecuente fue la tos en 85,35% de los pacientes seguido por la expectoración y la disnea con 68,29% y 65,85% respectivamente. La tasa de defunción por tuberculosis en quinquenio estudiado fue 0,36 x 100000 habitantes. Conclusiones: el diagnóstico de tuberculosis fue más frecuente en el sexo masculino, en el grupo etario de 60 años y más y en alcohólicos. Los síntomas más frecuentes fueron tos, expectoración y disnea. Predominó el pesquisaje pasivo en el diagnóstico (AU).


Introduction: tuberculosis is the oldest of the pandemics and causes around 1.7 million of death and 9 million of cases every year, being a reemerging disease in Cuba. That is why a retrospective, descriptive, observational study was carried out in the municipality of Matanzas in the period between January 2010 and December 2014. Objective: to determine the clinical behavior of tuberculosis. Materials and methods: the universe of study was the total of 41 patients diagnosed with tuberculosis in the municipality of Matanzas in the studied period. Data were obtained from the Department of Statistics of the Municipal Center of Hygiene and Epidemiology. Results: male sex predominated with 87.8 % of the patients in the age group of 60 years and more (34.15 %). The most vulnerable group was the one of the alcoholics with 50.09 %, followed by the patients aged 60 years or more, with 34.14 %. The predominating diagnosis was the one obtained through passive screening, for 65.85 % of the patients. The most frequent symptom was cough in 85.35 of the patients, followed by expectoration and dyspnea, with 68.29 % and 65.85 respectively. The death rate for tuberculosis in the studied five-year period was 0.36 x 100 000 inhabitants. Conclusions: Tuberculosis diagnosis was more frequent in male sex, in the age group of 60 years-old and more and in alcoholics. The most frequent symptoms were cough, expectoration and dyspnea. Passive screening predominated in the diagnosis (AU).


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Tuberculose/diagnóstico , Tuberculose/mortalidade , Atenção Primária à Saúde , América/etnologia , Dinâmica Populacional , Fatores de Risco , Mortalidade , Cuba/epidemiologia
17.
Rev. cuba. salud pública ; 43(1)ene.-mar. 2017.
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1508487

RESUMO

Los aniversarios estimulan la tentación de hacer balances, y esta tentación se vuelve máxima ante el próximo 500 aniversario de la invasión europea de América. Es posible que este balance, que se está llevando a cabo en todo el mundo, arroje conclusiones diferentes al que se hizo hace 100 años. Hasta no hace mucho, las evaluaciones hegemónicas de la invasión eran positivas. Los vencidos no elevaban su voz, y polémicas del tipo de la "leyenda negra" con la que cierta historiografía, principalmente anglosajona, impugnaba la acción de los españoles -los primeros invasores- parecía no ser más que una reyerta entre vencedores. Para ventaja de los que estamos reflexionando sobre el 5o Centenario, en las últimas décadas han aparecido muchos trabajos de investigación que han permitido resignificar la información atesorada por los cronistas, y han podido obtener mucha información nueva. Historiadores, arqueólogos, demógrafos, ecólogos, agrónomos y epidemiólogos modernos han podido generar materiales sobre los que se han abalanzado analizadores críticos de toda índole; porque esta información nueva resalta la tragedia que representó para América (y secundariamente para África) la colisión con Europa, que comenzó con el arribo a Guanahaní de una nao y dos carabelas en 1492. En lo que sigue, nos limitaremos a hacer una reseña del impacto epidemiológico...(AU)


Assuntos
Humanos , Medicina Social , América/etnologia , Epidemiologia
18.
Enferm Infecc Microbiol Clin ; 35(10): 617-623, 2017 Dec.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-27032297

RESUMO

The population movements during the last decades have resulted in a progressively increasing interest in certain infectious diseases. Eosinophilia is a common finding in immigrants and travellers. One of the most common causes of eosinophilia is helminth infection, and some intestinal protozoa. The aim of this paper is to describe the epidemiological characteristics of cases with eosinophilia and its association with the presence of parasites in the REDIVI data network. This is a multicentre prospective observational study that includes patients diagnosed with eosinophilia registered in the cooperative network for the study of infectious diseases in travellers and immigrants (+REDIVI) from January 2009 to December 2012. A total of 5,255 episodes were recorded in the network during the study period, and eosinophilia was observed in 8.1-31.3% of cases (depending on the immigration group). There were 60.2% men, with a median age of 31years. There were 72.4% immigrants, and 81.2% were asymptomatic. The most commonly identified parasites were S.stercoralis (34.4%), Schistosoma sp. (11.0%), and hookworm (8.6%). The relationship between eosinophilia and parasite infection was significant for all helminths (except for cutaneous larva migrans). The symptoms and duration of the journey did not significantly determine the presence of eosinophilia. In the case of eosinophilia in a person who has lived in helminth endemic areas, it is advisable to carry out targeted studies to diagnose the infection, regardless of immigration type, length of stay, or the presence of symptoms.


Assuntos
Emigrantes e Imigrantes , Eosinofilia/epidemiologia , Helmintíase/epidemiologia , Infecções por Protozoários/epidemiologia , Viagem , África/etnologia , América/etnologia , Ásia/etnologia , Doenças Endêmicas , Eosinofilia/parasitologia , Europa (Continente)/etnologia , Helmintíase/sangue , Helmintíase/parasitologia , Helmintíase/transmissão , Humanos , Vigilância da População , Prevalência , Estudos Prospectivos , Infecções por Protozoários/sangue , Infecções por Protozoários/parasitologia , Infecções por Protozoários/transmissão , Sistema de Registros , Espanha/epidemiologia
19.
J Obstet Gynaecol Res ; 43(2): 281-290, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27987340

RESUMO

AIM: We aimed to analyze computerized cardiotocographic (cCTG) parameters (including fetal heart rate baseline, short-term variability, Delta, long-term irregularity [LTI], interval index [II], low frequency [LF], movement frequency [MF], high frequency [HF], and approximate entropy [ApEn]) in physiological term pregnancies in order to correlate them with ethnic differences. The clinical meaning of numerical parameters may explain physiological or paraphysiological phenomena that occur in fetuses of different ethnic origins. METHODS: A total of 696 pregnant women, including 384 from Europe, 246 from sub-Saharan Africa, 45 from South-East Asia, and 21 from South America, were monitored from the 37th to the 41st week of gestation. Statistical analysis was performed with the analysis of variance test, Pearson correlation test and receiver-operator curves (P < 0.05). RESULTS: Our results showed statistically significant differences (P < 0.05) between white and black women for Delta, LTI, LF, MF, HF, and ApEn; between white and Asian women for Delta, LTI, MF, and the LF/(HF + MF) ratio; and between white and Latina women for Delta, LTI, and ApEn. In particular, Delta and LTI performed better in the white group than in the black, Asian, and Latina groups. Instead, LF, MF, HF, and ApEn performed better in the black than in the white group. CONCLUSION: Our results confirmed the integrity and normal functionality of both central and autonomic nervous system components for all fetuses investigated. Therefore, CTG monitoring should include both linear and nonlinear components of fetal heart rate variability in order to avoid misinterpretations of the CTG trace among ethnic groups.


Assuntos
Cardiotocografia/métodos , Frequência Cardíaca Fetal/fisiologia , Adulto , África/etnologia , América/etnologia , Ásia/etnologia , Feminino , Humanos , Gravidez , Estudos Retrospectivos , Adulto Jovem
20.
Br J Dermatol ; 176(5): 1345-1350, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-27534273

RESUMO

The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterized by thickening of the epidermis of the palms and soles. No classification system satisfactorily unites clinical presentation, pathology and molecular pathogenesis. There are four patterns of hyperkeratosis - striate, focal, diffuse and punctate. Mutations in the desmoglein 1 gene (DSG1), a transmembrane glycoprotein, have been reported primarily in striate, but also in focal and diffuse PPKs. We report seven unrelated pedigrees with dominantly inherited PPK owing to mutations in the DSG1 gene, with marked phenotypic variation. Genomic DNA from each family was isolated, and individual exons amplified by polymerase chain reaction. Sanger sequencing was employed to identify mutations. Mutation analysis identified novel mutations in five families (p.Tyr126Hisfs*2, p.Ser521Tyrfs*2, p.Trp3*, p.Asp591Phefs*9 and p.Met249Ilefs*6) with striate palmar involvement and varying focal or diffuse plantar disease, and the recurrent mutation c.76C>T, p.Arg26*, in two families with variable PPK patterns. We report one recurrent and five novel DSG1 mutations, causing varying patterns of PPK, highlighting the clinical heterogeneity arising from mutations in this gene.


Assuntos
Desmogleína 1/genética , Ceratodermia Palmar e Plantar/genética , Mutação/genética , África/etnologia , América/etnologia , Europa (Continente)/etnologia , Feminino , Testes Genéticos , Humanos , Masculino , Linhagem , Fenótipo , Adulto Jovem
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