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1.
Ecol Food Nutr ; 59(4): 367-386, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32148089

RESUMEN

Matam is one of the poorest and most food-insecure regions of Senegal. In the past years, repeated environmental shocks such as drought have limited the access to food and it is unclear whether food insecurity is more a function of food availability (FA) and accessibility at the community level (CL) or more related to FA at the household level (HL). To better understand the FA and food security (FS) situation in this region, in 2018, a cross-sectional study was conducted in 103 households living in four villages. Through focus group discussions and direct observations, data on food available at HL and CL were collected as well as on food affordability and household FS. Overall, between 49 and 64 different foods, mostly from plant source, were identified. Around 75% of households had 0 to 3 foods and 7%, 7 to 10; 64% of all households were severely food insecure. FA at HL and its socioeconomic status were positively associated with household FS whereas FA at the CL was negatively associated. Although food assistance may be required to respond to shocks in the area, investments could be made to improve households` socioeconomic level to enhance their access to food.


Asunto(s)
Composición Familiar/etnología , Inseguridad Alimentaria , Abastecimiento de Alimentos , Alimentos/clasificación , Alimentos/economía , Adolescente , Adulto , Estudios Transversales , Recolección de Datos/métodos , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Pobreza , Población Rural , Senegal/etnología , Factores Socioeconómicos
2.
Cult Med Psychiatry ; 43(4): 663-685, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31729690

RESUMEN

Peri-urban Senegal lies outside the influence of both the nation's historic public mental health model and contemporary global mental health. This paper examines how cultural logics in this underserved region spill over from social domains to widen the therapeutic sphere of psychoses and epilepsy. Observations and 60 carer and/or patient interviews concerning 36 patients afflicted by one or both conditions illustrate how the "crisis of the uncanny", a spectacular eruption of psychoses and seizures into the everyday, triggers trajectories across these domains. To resolve the crisis, patients and carers mobilize debts and obligations of extended kin and community, as well as a gift economy among strangers. The therapeutic and non-therapeutic are further linked through the semantics of falling, which associates this local term for the crisis with divine ecstasy and the slide from human to non-human forms of life. We introduce the concept of thick therapeutics to capture how the logics of sheep- other animal-human relationality, secular-divine politics of giving, and payment/sacrifice for healing imbue a therapeutic assemblage continually constructed through actions of patients, carers and healers. We ask what implications therapeutic thickening might have for mental health futures, such as monetized payment under global mental health.


Asunto(s)
Epilepsia/terapia , Servicios de Salud , Trastornos Psicóticos/terapia , Adulto , Epilepsia/etnología , Humanos , Trastornos Psicóticos/etnología , Investigación Cualitativa , Senegal/etnología
3.
BMJ Case Rep ; 12(1)2019 Jan 22.
Artículo en Inglés | MEDLINE | ID: mdl-30674495

RESUMEN

We present a case of a 33-year-old man with a background of HIV and Kaposi's sarcoma (KS), who presented with a right sided chylothorax. He was managed with percutaneous chest drainage and talc pleurodesis, in addition to his chemotherapy and antiretroviral therapy for KS and HIV, respectively. Good clinical control of the chylothorax remained 4 months post drainage. This case report summarises the approach to investigating and managing pleural effusion, and in particular chylothorax, in HIV patients.


Asunto(s)
Quilotórax/diagnóstico por imagen , Quilotórax/terapia , Drenaje/métodos , Pleurodesia/métodos , Sarcoma de Kaposi/complicaciones , Adulto , Cuidados Posteriores , Tubos Torácicos , Quilotórax/etiología , Quilotórax/metabolismo , Diagnóstico Diferencial , Dietoterapia/métodos , VIH/crecimiento & desarrollo , Infecciones por VIH/complicaciones , Infecciones por VIH/virología , Humanos , Masculino , Derrame Pleural/diagnóstico por imagen , Derrame Pleural/etiología , Derrame Pleural/metabolismo , Derrame Pleural/terapia , Radiografía Torácica , Sarcoma de Kaposi/virología , Senegal/etnología , Neoplasias Cutáneas/complicaciones , Talco/administración & dosificación , Tomografía Computarizada por Rayos X , Resultado del Tratamiento
4.
Med Anthropol ; 38(2): 152-166, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30102077

RESUMEN

Drawing on ethnographic fieldwork conducted in Senegal between 2010 and 2011, I demonstrate how health professionals have deployed indicators such as number of women and abortion type treated in government hospitals to demonstrate commitment to global mandates on reproductive rights. These indicators obscure discrimination against women suspected of illegal abortion as health workers negotiate obstetric treatment with the abortion law. By measuring hospitals' capacity to keep women with abortion complications alive, post-abortion care (PAC) indicators have normalized survival as a state of reproductive well-being.


Asunto(s)
Aborto Inducido , Derechos Sexuales y Reproductivos/legislación & jurisprudencia , Aborto Inducido/legislación & jurisprudencia , Aborto Inducido/métodos , Antropología Médica , Femenino , Gobierno , Humanos , Masculino , Embarazo , Senegal/etnología
7.
Transplant Proc ; 50(2): 341-344, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-29579799

RESUMEN

BACKGROUND: Senegalese populations are massively migrating to the southern parts of the European Union, especially Spain, France, and Italy. The attitude towards living kidney donation in this group is little known. The objective of this study was to analyze the attitude toward living kidney donation of subjects from the population of Senegalese residents in Spain. METHODS: The study subjects were the Senegalese population residing in Spain aged >15 years stratified according to age and sex, according to census data and immigrant support associations. The evaluation instrument used was an attitude questionnaire toward renal live transplant ("PCID-DVR" Rios: The questionnaire of the International Collaborative Donor Project about Living Kidney Donation ["Proyecto Colaborativo Internacional Donante sobre Donación de Vivo Renal" in Spanish] developed by Dr. Ríos). Support of African immigration associations was used to advise on the location of potential respondents. Fulfillment of the questionnaire was anonymous and self-administered. Verbal consent was requested for collaboration in the study. Student t tests, the χ2 test, Fisher exact test, and a logistic regression analysis were used in the statistical analysis. RESULTS: The study included 293 respondents. Overall, 62% (n = 181) were in favor of renal live donation (relatives and close friends); 38% (n = 112) did not consider the possibility of renal live donation or they had doubts. This attitude is not related to social variables or general information (P > .05). The variables associated with this attitude (P < .05) were related to the family environment (especially with the partner) and the risk assessment of donating a living kidney. CONCLUSIONS: Based on these results, the Senegalese population that has immigrated to Spain has a very unfriendly attitude toward renal live donation.


Asunto(s)
Emigrantes e Inmigrantes/psicología , Familia/psicología , Conocimientos, Actitudes y Práctica en Salud/etnología , Trasplante de Riñón/psicología , Donadores Vivos/psicología , Adolescente , Adulto , Familia/etnología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Senegal/etnología , España , Encuestas y Cuestionarios , Adulto Joven
9.
Popul Stud (Camb) ; 71(sup1): 51-67, 2017 10.
Artículo en Inglés | MEDLINE | ID: mdl-29061093

RESUMEN

We propose to extend demographic multistate models by adding a behavioural element: behavioural rules explain intentions and thus transitions. Our framework is inspired by the Theory of Planned Behaviour. We exemplify our approach with a model of migration from Senegal to France. Model parameters are determined using empirical data where available. Parameters for which no empirical correspondence exists are determined by calibration. Age- and period-specific migration rates are used for model validation. Our approach adds to the toolkit of demographic projection by allowing for shocks and social influence, which alter behaviour in non-linear ways, while sticking to the general framework of multistate modelling. Our simulations yield that higher income growth in Senegal leads to higher emigration rates in the medium term, while a decrease in fertility yields lower emigration rates.


Asunto(s)
Conducta , Toma de Decisiones , Demografía , Emigración e Inmigración , Intención , Factores de Edad , Simulación por Computador , Técnicas de Apoyo para la Decisión , Europa (Continente)/epidemiología , Humanos , Acontecimientos que Cambian la Vida , Dinámica Poblacional , Teoría Psicológica , Senegal/etnología , Medio Social , Apoyo Social , Factores Socioeconómicos
10.
Child Dev ; 88(5): 1513-1526, 2017 09.
Artículo en Inglés | MEDLINE | ID: mdl-28650107

RESUMEN

In some areas of rural Africa, long-standing cultural traditions and beliefs may discourage parents from verbally engaging with their young children. This study assessed the effectiveness of a parenting program designed to encourage verbal engagement between caregivers and infants in Wolof-speaking villages in rural Senegal. Caregivers (n = 443) and their 4- to 31-month-old children were observed at baseline in 2013 and 1 year later at follow-up. Results showed that caregivers in program villages nearly doubled the amount of child-directed speech during a play session compared to baseline, whereas caregivers in matched comparison villages showed no change. After 1 year, children in program villages produced more utterances, and showed greater improvement in vocabulary and other language outcomes compared to children in comparison villages.


Asunto(s)
Educación no Profesional , Relaciones Padres-Hijo/etnología , Responsabilidad Parental/etnología , Desarrollo de Programa , Evaluación de Programas y Proyectos de Salud , Conducta Verbal , Adulto , Preescolar , Femenino , Humanos , Lactante , Masculino , Población Rural , Senegal/etnología
12.
Enferm Infecc Microbiol Clin ; 35(8): 516-519, 2017 Oct.
Artículo en Inglés, Español | MEDLINE | ID: mdl-26708338

RESUMEN

INTRODUCTION: Delayed haemolytic anaemia is one of the more frequent events after treatment with intravenous artesunate in patients with severe malaria. Little is known about its frequency and the outcomes of patients with this condition. METHODS: A retrospective study was conducted to describe the incidence of delayed haemolysis in a cohort of patients with severe malaria by Plasmodium falciparum treated with artesunate between August 2013 and July 2015. RESULTS: The study included 52 patients with malaria due to Plasmodium falciparum, with 21 having severe malaria. The majority were male (66.7%), and the median age was 43 years. Four patients (19%) presented post-artesunate delayed haemolysis 11-13 days from the initiation of treatment. Two patients required hospital admission and red blood cell transfusion. CONCLUSION: Post-artesunate delayed haemolysis is frequent in patients with severe malaria treated with intravenous artemisinins. These patients should be monitored for 4 weeks after treatment is started.


Asunto(s)
Anemia Hemolítica/inducido químicamente , Antimaláricos/efectos adversos , Artesunato/efectos adversos , Malaria Falciparum/tratamiento farmacológico , Parasitemia/tratamiento farmacológico , Enfermedad Relacionada con los Viajes , Adulto , África del Sur del Sahara , Antimaláricos/uso terapéutico , Artesunato/uso terapéutico , Biomarcadores , Emigrantes e Inmigrantes , Femenino , Humanos , Incidencia , Malaria Falciparum/sangre , Masculino , Persona de Mediana Edad , Parasitemia/sangre , Estudios Retrospectivos , Senegal/etnología , Factores de Tiempo
13.
Am J Trop Med Hyg ; 96(2): 355-357, 2017 Feb 08.
Artículo en Inglés | MEDLINE | ID: mdl-27895270

RESUMEN

Finding Dicrocoelium dendriticum eggs in human feces is exceptional and there are few prevalence data available. True infection occurs after accidental ingestion of ants containing metacercariae and spurious infection through the consumption of infected animal liver. Differential diagnosis between true and pseudo-infections is performed through stool examination after a diet free of liver. In addition, microscopy can help to differentiate the type of infection. We report six cases, all from sub-Saharan Africa, detection of this fluke at the Tropical Medicine Unit Vall d'Hebron-Drassanes (Barcelona, Spain). Dicrocoelium dendriticum transit eggs were visualized in five cases and there were no subsequent visualizations after diet, which reinforces that all these cases were false parasitism. In one case, few embryonated eggs were observed and the patient was treated for a possible true parasitism. There is a need to investigate the prevalence of D. dendriticum in our country focusing on the distinction between true and spurious infections.


Asunto(s)
Dicroceliasis/diagnóstico , Dicrocoelium , Adulto , Animales , Diagnóstico Diferencial , Dicroceliasis/epidemiología , Emigrantes e Inmigrantes , Humanos , Malí/etnología , Persona de Mediana Edad , Nigeria/etnología , Senegal/etnología , España/epidemiología
14.
Ann Cardiol Angeiol (Paris) ; 65(2): 71-6, 2016 Apr.
Artículo en Francés | MEDLINE | ID: mdl-25702242

RESUMEN

INTRODUCTION: Research of cardiac involvement in patients with rheumatoid arthritis can prevent complications and place in a logical secondary prevention. The objective of this study was to investigate the echocardiographic parameters in a population of Senegalese patients with rheumatoid arthritis without clinically evident cardiovascular manifestations. PATIENTS AND METHOD: We conducted a descriptive cross-sectional study, which included prospectively from outpatients in the internal medicine department of university hospital center Aristide Le Dantec in Dakar, Senegal, with a diagnosis of rheumatoid arthritis without clinically evident cardiovascular disease. It focused on a sample of 73 patients of both sexes aged at least 18 years. Following clinical examination, we conducted laboratory tests (CRP, fibrinogen, ESR, rheumatoid factors: Latex and Waaler-Rose, anti-CCP, antinuclear factors and anti-ENA antibodies), ECG, echocardiography standard. Data were analyzed using a descriptive study of the different variables with the calculation of proportions for categorical variables, and the positional parameters and dispersion for quantitative variables. RESULTS: A total of 73 patients with rheumatoid arthritis without obvious cardiac events and meeting the criteria of definition of the ACR 1987 were included in the study. The mean age was 44.17±14.43 years with extremes of 18 and 75 years. The mean duration of RA was 5.93±4.78 years. The concept of family inflammatory arthritis was reported in 35.60% of cases and almost one in six patients had at least a factor of cardiovascular risk (16.96%). The abnormalities found in Doppler echocardiography were dominated by diastolic LV dysfunction (42.46%), increased left ventricular mass in 35.61%. Valvular leaks of variable grades were highlighted regarding all orifices but were rarely significant. CONCLUSION: The realization of echocardiography in patients with rheumatoid arthritis without clinically evident cardiovascular manifestations helps to highlight cardiovascular abnormalities related to the natural course of the disease.


Asunto(s)
Artritis Reumatoide/diagnóstico , Artritis Reumatoide/fisiopatología , Ecocardiografía , Sistema de Conducción Cardíaco , Disfunción Ventricular Izquierda/fisiopatología , Adolescente , Adulto , Anciano , Artritis Reumatoide/complicaciones , Artritis Reumatoide/etnología , Población Negra/etnología , Estudios Transversales , Ecocardiografía/métodos , Femenino , Sistema de Conducción Cardíaco/fisiopatología , Hospitales Universitarios , Humanos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Factores de Riesgo , Senegal/etnología , Sensibilidad y Especificidad , Adulto Joven
16.
Biomédica (Bogotá) ; 35(3): 437-443, jul.-sep. 2015. tab
Artículo en Inglés | LILACS | ID: lil-765472

RESUMEN

Introduction: Fetal hemoglobin is an important factor in modulating the severity of sickle cell anemia. Its level in peripheral blood underlies strong genetic determination. Associated loci with increased levels of fetal hemoglobin display population-specific allele frequencies. Objective: We investigated the presence and effect of known common genetic variants promoting fetal hemoglobin persistence (rs11886868, rs9399137, rs4895441, and rs7482144) in 60 Colombian patients with sickle cell anemia. Materials and methods: Four single nucleotide polymorphisms (SNP) were genotyped by restriction fragment length polymorphisms (RFLP) and the use of the TaqMan procedure. Fetal hemoglobin (HbF) from these patients was quantified using the oxyhemoglobin alkaline denaturation technique. Genotype frequencies were compared with frequencies reported in global reference populations. Results: We detected genetic variants in the four SNPs, reported to be associated with higher HbF levels for all four SNPs in the Colombian patients. Genetic association between SNPs and HbF levels did not reach statistical significance. The frequency of these variants reflected the specific ethnic make-up of our patient population: A high prevalence of rs7482144-'A' reflects the West-African origin of the sickle cell mutation, while high frequencies of rs4895441-'G' and rs11886868-'C' point to a significant influence of an Amerindian ethnic background in the Colombian sickle cell disease population. Conclusion: These results showed that in the sickle cell disease population in Colombia there is not a unique genetic background, but two (African and Amerindian). This unique genetic situation will provide opportunities for a further study of these loci, such as fine-mapping and molecular-biological investigation. Colombian patients are expected to yield a distinctive insight into the effect of modifier loci in sickle cell disease.


Introducción. La hemoglobina fetal es un importante factor modulador de la gravedad de la anemia falciforme, cuya expresión está muy condicionada por el factor genético. Los loci asociados con el incremento de la hemoglobina fetal pueden presentar frecuencias alélicas específicas para cada población. Objetivo. Investigar la presencia y el efecto de las variantes genéticas rs11886868, rs9399137, rs4895441 y rs7482144 asociadas con la persistencia de hemoglobina fetal, en 60 pacientes colombianos con anemia falciforme. Materiales y métodos. Se hizo la genotipificación de los polimorfismos de nucleótido simple ( Single Nucleotide Polymorphisms, SNP) mediante la técnica de polimorfismos de longitud de fragmentos de restricción ( Restriction Fragment Length Polymorphisms, RFLP) y el procedimiento TaqMan. La hemoglobina fetal (HbF) se cuantificó utilizando la técnica de desnaturalización alcalina de la oxihemoglobina. Las frecuencias genotípicas se compararon con las reportadas en poblaciones de referencia global. Resultados. Se observaron variantes genéticas ya reportadas para aumento de HbF en los cuatro SNP. La asociación genética entre los SNP y el incremento de la HbF no alcanzó significancia estadística. La frecuencia de estos alelos reflejó la siguiente composición específica en esta muestra de pacientes colombianos: una gran prevalencia de rs7482144-'A', lo que indica que el origen de la mutación para la anemia falciforme es África occidental, y una gran frecuencia de rs4895441-'G' y rs11886868-'C', lo que denota la influencia significativa del origen genético amerindio. Conclusión. Los resultados evidenciaron que la población con anemia falciforme de Colombia no tiene un único origen genético, sino que existen dos (africano y amerindio). Esta situación genética única ofrece la oportunidad de llevar a cabo un estudio más amplio de estos loci a nivel molecular. Se espera que el estudio de pacientes colombianos permita una visión diferente del efecto de los loci modificadores en esta enfermedad.


Asunto(s)
Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Hemoglobina Fetal/genética , Proteínas Nucleares/genética , Etnicidad/genética , Proteínas Portadoras/genética , Polimorfismo de Nucleótido Simple , Sitios de Carácter Cuantitativo/genética , gamma-Globinas/genética , Anemia de Células Falciformes/genética , Proteínas Represoras , Senegal/etnología , Sierra Leona/etnología , Polimorfismo de Longitud del Fragmento de Restricción , Indígenas Sudamericanos/genética , Colombia/epidemiología , Negro o Afroamericano/genética , Genotipo , Anemia de Células Falciformes/sangre , Anemia de Células Falciformes/etnología
17.
Ann Dermatol Venereol ; 142(4): 270-5, 2015 Apr.
Artículo en Francés | MEDLINE | ID: mdl-25683014

RESUMEN

BACKGROUND: Dermatophytids are immunologically mediated dermatologic presentations secondary to sensitization to a dermatophyte infection. They are most frequently associated with toe-web intertrigo and usually present as localized, palmar, pruriginous vesicular eruptions. We report three original cases of generalized exanthematous pustular dermatophytid associated with kerions. PATIENTS: Two boys aged 11 and 6 years, and one girl aged 6 years initially presented with kerion secondary to Trichophyton tonsurans (case 1), Trichophyton soudanense (case 2) and Trichophyton mentagrophytes (case 3), respectively. Two to three days after initiation of griseofulvin treatment, all patients presented with a pustular eruption extending from the head to the trunk, associated in one case with fever of 39°C and inflammatory chondritis. Samples obtained from the pustular lesions were sterile, serum inflammatory markers were within the normal range and skin lesions resolved on oral corticosteroid treatment (prednisone 0.75 mg/kg, case 1) or high-potency topical steroids (cases 2 and 3) given as an adjunct to griseofulvin treatment (19 to 23 mg/kg/d). DISCUSSION: Dermatophytids occur during the acute phase of infection or within a few days of treatment initiation. Lesions are remote from the infection site, contain no dermatophyte, and resolve after treatment of the infection. We report three original cases of generalized exanthematous pustular dermatophytid, associated in one case with fever and inflammatory chondritis. The main differential diagnosis is acute generalized exanthematous pustulosis secondary to antifungal drugs. Differences in clinical presentation between the two enable the appropriate diagnosis to be made as well as continued use of the antifungal medication needed to cure the patient. General or topical steroids may also be used in combination.


Asunto(s)
Pustulosis Exantematosa Generalizada Aguda/etiología , Tiña del Cuero Cabelludo/complicaciones , Antifúngicos/efectos adversos , Antifúngicos/uso terapéutico , Niño , Diagnóstico Diferencial , Erupciones por Medicamentos/diagnóstico , Femenino , Fiebre/etiología , Griseofulvina/efectos adversos , Griseofulvina/uso terapéutico , Humanos , Masculino , Malí/etnología , Osteocondritis/etiología , Prednisona/uso terapéutico , Psoriasis/diagnóstico , Senegal/etnología , Tiña del Cuero Cabelludo/tratamiento farmacológico , Tiña del Cuero Cabelludo/microbiología , Trichophyton/aislamiento & purificación
18.
Med Anthropol ; 34(1): 11-23, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25062089

RESUMEN

In this article, I discuss certain questions relating to the ethical difficulties faced by anthropologists when dealing with two different social groups and when one group holds a position of dominance over the other. In the first example, I draw on my work on doctor-patient relationships in France; in the second, on a study on reproduction in immigrant African families from Mali and Senegal, living in polygynous households in France. I use these examples to explore questions of positionality, beneficence, and potential harm. I show the choices I made in order to construct an epistemologically ethical object.


Asunto(s)
Antropología Médica , Relaciones Médico-Paciente , Antropología Médica/ética , Antropología Médica/métodos , Femenino , Francia , Humanos , Masculino , Matrimonio , Senegal/etnología , Predominio Social
19.
Odontostomatol Trop ; 38(150): 5-14, 2015 Jun.
Artículo en Francés | MEDLINE | ID: mdl-26934767

RESUMEN

INTRODUCTION: Facial soft-tissue analyses made from photographic records (photogrammetric analysis of the soft tissues) showed interracial dimorphism. Standard of these facial analyses, originally obtained from Caucasian might not be appropriate for the diagnosis and treatment planning of other groups of orthodontic patients. The purpose of this study was to compare the sagittal photogrammetric soft tissue profile characteristics between Senegalese and Moroccan adults. MATERIALS AND METHODS: A cross-sectional study was performed in a group of Senegalese and Moroccan students in the Faculty of Medicine, Pharmacy and Dentistry of Dakar. Standardized facial-profile photographs were taken with each student in natural head position, centric relation, and relaxed lip posture. Twenty four linear parameters were measured on paper sheet using a graduated ruler. For each variable mean and SD were calculated. In addition independent samples t-test was performed to detect sexual and racial dimorphism. Results were regarded as significant at p = 0.05. RESULTS: Senegalese subjects had significantly more lips protrusion than Moroccan who had significantly a more elongated and more anterior positioned nose, a more chin prominence and a tendency to cutaneous class II than Senegalese. CONCLUSION: Further studies including different age groups subjects would allow having longitudinal data according to age.


Asunto(s)
Población Negra/etnología , Cefalometría/métodos , Etnicidad , Cara/anatomía & histología , Fotogrametría/métodos , Adulto , Relación Céntrica , Mentón/anatomía & histología , Estudios Transversales , Conducto Auditivo Externo/anatomía & histología , Oído Externo/anatomía & histología , Femenino , Humanos , Labio/anatomía & histología , Masculino , Marruecos/etnología , Nariz/anatomía & histología , Senegal/etnología , Factores Sexuales , Dimensión Vertical , Adulto Joven
20.
Biomedica ; 35(3): 437-43, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26849705

RESUMEN

INTRODUCTION: Fetal hemoglobin is an important factor in modulating the severity of sickle cell anemia. Its level in peripheral blood underlies strong genetic determination. Associated loci with increased levels of fetal hemoglobin display population-specific allele frequencies. OBJECTIVE: We investigated the presence and effect of known common genetic variants promoting fetal hemoglobin persistence (rs11886868, rs9399137, rs4895441, and rs7482144) in 60 Colombian patients with sickle cell anemia. MATERIALS AND METHODS: Four single nucleotide polymorphisms (SNP) were genotyped by restriction fragment length polymorphisms (RFLP) and the use of the TaqMan procedure. Fetal hemoglobin (HbF) from these patients was quantified using the oxyhemoglobin alkaline denaturation technique. Genotype frequencies were compared with frequencies reported in global reference populations. RESULTS: We detected genetic variants in the four SNPs, reported to be associated with higher HbF levels for all four SNPs in the Colombian patients. Genetic association between SNPs and HbF levels did not reach statistical significance. The frequency of these variants reflected the specific ethnic make-up of our patient population: A high prevalence of rs7482144-'A' reflects the West-African origin of the sickle cell mutation, while high frequencies of rs4895441-'G' and rs11886868-'C' point to a significant influence of an Amerindian ethnic background in the Colombian sickle cell disease population. CONCLUSION: These results showed that in the sickle cell disease population in Colombia there is not a unique genetic background, but two (African and Amerindian). This unique genetic situation will provide opportunities for a further study of these loci, such as fine-mapping and molecular-biological investigation. Colombian patients are expected to yield a distinctive insight into the effect of modifier loci in sickle cell disease.


Asunto(s)
Anemia de Células Falciformes/genética , Proteínas Portadoras/genética , Etnicidad/genética , Hemoglobina Fetal/genética , Proteínas Nucleares/genética , Polimorfismo de Nucleótido Simple , Sitios de Carácter Cuantitativo/genética , gamma-Globinas/genética , Adolescente , Adulto , Anemia de Células Falciformes/sangre , Anemia de Células Falciformes/etnología , Población Negra/genética , Niño , Preescolar , Colombia/epidemiología , Femenino , Genotipo , Humanos , Indígenas Sudamericanos/genética , Masculino , Persona de Mediana Edad , Polimorfismo de Longitud del Fragmento de Restricción , Proteínas Represoras , Senegal/etnología , Sierra Leona/etnología , Adulto Joven
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