RESUMO
HLA-A,-B,-C,-DRB1 and -DQB1 alleles have been studied in Chimila Amerindians from Sabana de San Angel (North Colombian Coast) by using high resolution molecular typing. A frequent extended haplotype was found:HLA-A*24:02-B*51:10-C*15:02-BRB1*04:07-DQB1*03:02 (28.7%) which has also been described in Amerinndian Mayos Mexican population (Mexico, California Gulf, Pacific Ocean). Other haplotypes had already been found in Amerindians from Mexico (Pacific and Atlantic Coast), Peru (highlands and Amazon Basin), Bolivia and North USA. A geographic pattern according to HLA allele or haplotype frequencies is lacking in Amerindians, as already known. Also, five new extended haplotypes were found in Chimila Amerindians. Their HLA-A*24:02 high frequencies characteristic is shared with aboriginal populations of Taiwan; also, HLA-C*01:02 high frequencies are found in New Zealand Maoris, New Caledonians and Kimberly Aborigines from Australia. Finally, this study may show a model of evolutionary factors acting and rising one HLA allele frequency (-A*24:02), but not in others that belong to the same or different HLA loci.
Assuntos
Frequência do Gene , Antígenos HLA/genética , Indígenas Sul-Americanos/genética , Colômbia , Haplótipos , HumanosRESUMO
We have studied Wiwa/Sanja Amerindians HLA-A, -B, -C, -DRB1 and DQB1 allele frequencies and extended haplotypes in 52 unrelated individuals from "El Encanto" town at Guanachaca riverside. High frequency alleles were in general present in other Amerindian populations. Also, three extended haplotypes and eight ones were respectively both "new found" and already described in Amerindians from North, Central and South America, including Lakota-Sioux, Mayas, Teeneks, Quechua and Aymaras. Analyses of HLA-A*24:02 and -C*01:02 Wiwa high frequency alleles suggested a specific relatedness with another Amerindian and Pacific Islander ethnic groups (these two particular alleles bearing in high frequencies); they include New Zealand Maoris, Taiwanese, Japanese, Papua New Guinea, and Samoans among others. This may indicate that selective forces are maintaining these two alleles high frequency within this wide American/Pacific area.
Assuntos
Etnicidade , Antígenos HLA/genética , Indígenas Sul-Americanos , Havaiano Nativo ou Outro Ilhéu do Pacífico , Colômbia , Frequência do Gene , Genótipo , Haplótipos , Teste de Histocompatibilidade , Humanos , Linguística , Ilhas do Pacífico , FilogeniaRESUMO
America First Inhabitants population (Amerindians, Na Dene and Eskimos) underwent a drastic population reduction and gene exchange after Europeans and Africans arrival after 1492 AD. Barranquilla population may be a good model to study present day population admixture in South America. HLA-A, -B and -DRB1 DNA typing has been performed in 188 unrelated individuals originated in the area and speak Spanish language; they showed apparent European/African and mixed characters. HLA genetic European/African features were found and only 1.85% Amerindian one. This contrasts with neighboring Cuban population where 10% HLA Amerindian characters appear.
Assuntos
Genótipo , Antígenos HLA-A/genética , Antígenos HLA-B/genética , Cadeias HLA-DRB1/genética , Indígenas Sul-Americanos , População Negra , Colômbia , Cuba , Etnicidade , Frequência do Gene , Humanos , Inuíte , Idioma , Fatores Socioeconômicos , População BrancaRESUMO
INTRODUCTION: Genes encoding for human leukocyte antigens (HLA) are highly polymorphic and of great importance in organ transplantation procedures, as determining allelic frequencies in defined populations is taken into account among the scientific criteria for organ allocation. OBJECTIVE: The objective of this study was to establish the antigen HLA-A, -B, and -DRB1 haplotype frequencies in organ donors representative of the Colombian population after brain death. MATERIALS AND METHODS: We conducted a descriptive retrospective study involving 2,506 cadaveric organ donors including an allelic and haplotype analysis of HLA-A, -B and -DRB1; we also determined the Hardy-Weinberg equilibrium. RESULTS: We identified 21, 43 and 15 allelic loci for groups A*, B* and DRB1*, respectively. We detected 1,268 HLA-A, -B and -DR, 409 HLA-A-B, 383 HLA-DR-B, and 218 HLA-A-DR haplotypes. The three loci were found to be in Hardy-Weinberg equilibrium between the number of heterozygotes observed and the expected number, with p values of ;0.05. CONCLUSIONS: This study provides information on the allelic distribution of HLA class I and II in organ donors from the six regions in which Colombia is structurally divided to provide transplant services.
Assuntos
Morte Encefálica , Antígenos HLA-B/genética , Haplótipos/genética , Polimorfismo Genético/genética , Alelos , Colômbia , Humanos , Estudos RetrospectivosRESUMO
Although Chikungunya infection is emerging as an important public health problem in many countries, it is not regarded as a life-threatening disease. Information dealing with fatal cases is scarce. We herein describe three patients with Chickungunya infection who presented with multiple organ failure and died within 24h of admission. Two cases had positive anti-dengue IgM, but dengue coinfection was rejected based on the clinical features and results of real-time reverse transcription polymerase chain reaction. These cases illustrate the challenges of the diagnosis and management of severe Chikungunya infection.
Assuntos
Febre de Chikungunya/diagnóstico , Febre de Chikungunya/terapia , Vírus Chikungunya/patogenicidade , Insuficiência de Múltiplos Órgãos/virologia , Idoso , Anticorpos Antivirais/sangue , Febre de Chikungunya/virologia , Vírus Chikungunya/genética , Coinfecção , Colômbia , Vírus da Dengue/imunologia , Evolução Fatal , Feminino , Hospitalização , Humanos , Masculino , Reação em Cadeia da Polimerase em Tempo RealRESUMO
Resumen Introducción. Los genes que codifican para el sistema de antígenos leucocitarios humanos (Human Leukocyte Antigen, HLA) son muy polimorfos y de gran importancia en procedimientos de trasplante de órganos, ya que la determinación de las frecuencias alélicas en poblaciones específicas se tiene en cuenta entre los criterios científicos para la asignación de órganos. Objetivo. Establecer las frecuencias antigénicas y haplotípicas de HLA-A, -B y -DRB1 en donantes de órganos con muerte encefálica, representativos de la población colombiana. Materiales y métodos. En este estudio descriptivo retrospectivo de 2.506 donantes cadavéricos de órganos, se hizo un análisis alélico y de haplotipos de HLA-A, -B y -DRB1, y se determinó el equilibrio de Hardy-Weinberg. Resultados. Se encontraron 21, 43 y 15 grupos alélicos para los loci A*, B* y DRB1*, respectivamente. Se detectaron 1.268 haplotipos HLA-A, -B y -DR, 409 haplotipos HLA A-B, 383 haplotipos HLA-B-DR y 218 haplotipos HLA-A-DR. Los tres loci se encontraban en equilibrio de Hardy-Weinberg entre el número de heterocigóticos observados y el esperado, con valores de p<0,05. Conclusiones. En este estudio se proporciona información sobre la distribución de los alelos HLA de clase I y II en la población de donantes de órganos provenientes de las seis regionales en las que está dividido el país para la prestación de servicios de trasplante.
Abstract Introduction: Genes encoding for human leukocyte antigens (HLA) are highly polymorphic and of great importance in organ transplantation procedures, as determining allelic frequencies in defined populations is taken into account among the scientific criteria for organ allocation. Objective: The objective of this study was to establish the antigen HLA-A, -B, and -DRB1 haplotype frequencies in organ donors representative of the Colombian population after brain death. Materials and methods: We conducted a descriptive retrospective study involving 2,506 cadaveric organ donors including an allelic and haplotype analysis of HLA-A, -B and -DRB1; we also determined the Hardy-Weinberg equilibrium. Results: We identified 21, 43 and 15 allelic loci for groups A*, B* and DRB1*, respectively. We detected 1,268 HLA-A, -B and -DR, 409 HLA-A-B, 383 HLA-DR-B, and 218 HLA-A-DR haplotypes. The three loci were found to be in Hardy-Weinberg equilibrium between the number of heterozygotes observed and the expected number, with p values of <0.05. Conclusions: This study provides information on the allelic distribution of HLA class I and II in organ donors from the six regions in which Colombia is structurally divided to provide transplant services.
Assuntos
Humanos , Polimorfismo Genético/genética , Haplótipos/genética , Morte Encefálica , Antígenos HLA-B/genética , Estudos Retrospectivos , Colômbia , AlelosRESUMO
La infección por el virus de Chikungunya presenta manifestaciones clínicas típicas: fiebre, erupción cutánea y artralgia. La enfermedad es generalmente autolimitada y de evolución benigna. Las complicaciones graves y la muerte ocurren en raras ocasiones y en pacientes con factores de riesgo, principalmente en aquellos con comorbilidades o que se encuentran en edades extremas de la vida. En este artículo describimos un paciente, sin comorbilidades previas conocidas, con infección por el virus de Chickungunya que progresó rápidamente a disfunción orgánica múltiple y murió luego de 36 horas de su ingreso. Este caso ilustra la dificultad del diagnóstico y el tratamiento de la infección grave por el virus de Chikungunya.
Chikungunya virus infection has typical clinical manifestations such as fever, rash and arthralgia. The disease is usually self-limiting and has a benign course. Serious complications and death occur rarely in patients with Chikungunya virus infection and usually happen in patients with risk factors, particularly in those with comorbidities or at extreme ages of life. In the present article, we describe a patient without comorbidities that progressed rapidly to multiple organ failure and died 36 hours after admission associated to Chikungunya virus infection. This case exemplifies the challenges of diagnosis and management of severe Chikungunya virus infection.