Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 518
Filtrar
1.
Niger Postgrad Med J ; 27(3): 190-195, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32687118

RESUMO

Background: Haemoglobin (Hb) disorders are among the most common blood genetic disorders worldwide, and they constitute an important cause of morbidity and mortality, especially in Nigeria. Despite the clinical significance of early diagnosis, newborn screening for these conditions is not routinely done in Nigeria. Objective: This study was undertaken to document the pattern of Hb phenotypes of newborn babies at the National Hospital Abuja and highlight the relevance of neonatal screening for early diagnosis of abnormal Hb phenotypes in Nigeria. Subjects and Methods: A prospective study of eligible newborn babies delivered in the hospital at the study site was undertaken following parental informed consent. Venous blood was collected from the babies into an ethylenediaminetetraacetic acid sample bottles. The samples were analysed using high-performance liquid chromatography (HPLC) techniques, and the Hb phenotypes obtained were documented. Data were analysed using the Statistical Package for Social Sciences (SPSS) version 20 (IBM-SPSS, Armonk, NY, USA). Results: Three hundred and eleven newborns (male = 173, female = 138) aged 0-28 days were recruited. Two hundred and thirty-six (75.9%) babies had Hb AA (FA) phenotype, 63 (20.3%) Hb AS (FAS), 6 (1.9%) Hb SS (FS), 4 (1.3%) Hb AC (FAC) and 2 (0.6%) had abnormal HbA variants. The overall prevalence of abnormal Hb phenotype was 24.1%. The results showed a significant association of sex (P = 0.003) and ethnicity (P = 0.047) with Hb phenotype. Conclusion: There is a wide spectrum of abnormal Hb phenotypes in Nigeria, and these phenotypes can easily be detected at birth using HPLC. We, therefore, recommend routine neonatal screening for sickle cell disease by HPLC in Nigeria.


Assuntos
Anemia Falciforme/sangue , Cromatografia Líquida de Alta Pressão/métodos , Hemoglobinas Anormais/análise , Hemoglobinas/análise , Recém-Nascido/sangue , Traço Falciforme/sangue , Adolescente , Adulto , Grupo com Ancestrais do Continente Africano , Anemia Falciforme/epidemiologia , Anemia Falciforme/genética , Criança , Pré-Escolar , Hemoglobina Falciforme , Hemoglobinas/classificação , Hemoglobinas Anormais/genética , Humanos , Lactente , Nigéria/epidemiologia , Fenótipo , Prevalência , Estudos Prospectivos , Adulto Jovem
2.
Br J Haematol ; 188(6): 985-993, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31889311

RESUMO

Sickle cell trait (SCT) is the benign heterozygous carrier state for the sickle variant of the HBB gene. Most of the ~300 million people with SCT worldwide will not experience any significant complications. However, accumulating evidence finds SCT associated with increased risk for the common conditions of chronic kidney disease and venous thromboembolism, and severe but rare renal medullary carcinoma and exercise-induced rhabdomyolysis. The mechanism is uncertain, but probably involves pathological rheology of SCT blood in regions of low oxygen tension, resulting from sickle haemoglobin polymerization in SCT red cells and leading to reduced blood flow and further tissue hypoxia and damage. Here, we used an in vitro microfluidic flow system to study the oxygen-dependent rheology of SCT blood and show that 5-(hydroxymethyl)furfural, a natural breakdown product of glucose and fructose-containing foods, such as fruit juices, can reduce the effects of hypoxia on SCT blood rheology in vitro, restoring near-normal flow velocities at very low oxygen. While opinions regarding the clinical significance of the risks associated with SCT are still evolving, these results suggest that a compound present in some food may provide a potential approach for managing risks that may be associated with SCT.


Assuntos
Furaldeído/análogos & derivados , Oxigênio/sangue , Traço Falciforme/tratamento farmacológico , Viscosidade Sanguínea , Furaldeído/farmacologia , Furaldeído/uso terapêutico , Humanos , Reologia , Traço Falciforme/sangue
3.
Arch Physiol Biochem ; 126(2): 166-171, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-30145922

RESUMO

We hypothesised that TG/HDL-C ratio and PAI-1 would be associated with high pulse pressure (PP) in young adults with sickle cell trait (SCT) and sickle cell disease (SCD). We compared the clinical, biochemical, and cardiometabolic parameters among individuals with normal genotype (HbAA; n = 60), SCT (HbAS; n = 60), and SCD (HbSS; n = 60), all in steady state. Using multivariate linear regression analysis, high PP was positively related to TG/HDL-C ratio in SCT (ß = 0.307; p = .014) and PAI-1 (ß = 0.499; p = .001) in SCD. The curve of receiver operating characteristic also showed that TG/HDL-C ratio and PAI-1 are efficient predictors of high PP in SCT carriers and SCD patients, respectively. This study suggests that increased levels of TG/HDL-C ratio and PAI-1 may be salient risk factors that would promote the development of arterial stiffness and other CVD in SCT carriers and SCD patients.


Assuntos
Pressão Sanguínea , HDL-Colesterol/sangue , Doença da Hemoglobina SC/diagnóstico , Inibidor 1 de Ativador de Plasminogênio/sangue , Traço Falciforme/diagnóstico , Triglicerídeos/sangue , Adolescente , Adulto , Biomarcadores/sangue , Feminino , Hemoglobina A/metabolismo , Doença da Hemoglobina SC/sangue , Hemoglobina Falciforme/metabolismo , Humanos , Modelos Lineares , Masculino , Curva ROC , Traço Falciforme/sangue
5.
Am J Hematol ; 94(12): 1306-1313, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31429114

RESUMO

Sickle cell trait (SCT) has been associated with hypercoagulability, chronic kidney disease (CKD), and ischemic stroke. Whether concomitant CKD modifies long-term ischemic stroke risk in individuals with SCT is uncertain. We analyzed data from 3602 genotyped black adults (female = 62%, mean baseline age = 54 years) who were followed for a median 26 years by the Atherosclerosis Risk in Communities Study. Ischemic stroke was verified by physician review. Associations between SCT and ischemic stroke were analyzed using repeat-events Cox regression, adjusted for potential confounders. SCT was identified in 236 (7%) participants, who more often had CKD at baseline than noncarriers (18% vs 13%, P = .02). Among those with CKD, elevated factor VII activity was more prevalent with SCT genotype (36% vs 22%; P = .05). From 1987-2017, 555 ischemic strokes occurred in 436 individuals. The overall hazard ratio of ischemic stroke associated with SCT was 1.31 (95% CI: 0.95-1.80) and was stronger in participants with concomitant CKD (HR = 2.18; 95% CI: 1.16-4.12) than those without CKD (HR = 1.09; 95% CI: 0.74-1.61); P for interaction = .04. The hazard ratio of composite ischemic stroke and/or death associated with SCT was 1.20 (95% CI: 1.01-1.42) overall, 1.44 (95% CI: 1.002-2.07) among those with CKD, and 1.15 (95% CI: 0.94-1.39) among those without CKD; P for interaction = .18. The long-term risk of ischemic stroke associated with SCT relative to noncarrier genotype appears to be modified by concomitant CKD.


Assuntos
Aterosclerose/epidemiologia , Isquemia Encefálica/epidemiologia , Insuficiência Renal Crônica/epidemiologia , Traço Falciforme/epidemiologia , Adulto , Afro-Americanos/genética , Aterosclerose/sangue , Biomarcadores , Proteínas Sanguíneas/análise , Isquemia Encefálica/sangue , Isquemia Encefálica/etiologia , Isquemia Encefálica/genética , Comorbidade , Diabetes Mellitus/epidemiologia , Feminino , Seguimentos , Predisposição Genética para Doença , Taxa de Filtração Glomerular , Hemoglobina C/genética , Hemoglobina Falciforme/genética , Hospitalização/estatística & dados numéricos , Humanos , Hiperlipidemias/epidemiologia , Hipertensão/epidemiologia , Masculino , Pessoa de Meia-Idade , Obesidade/epidemiologia , Vigilância da População , Análise de Componente Principal , Modelos de Riscos Proporcionais , Estudos Prospectivos , Insuficiência Renal Crônica/sangue , Fatores de Risco , Traço Falciforme/sangue , Traço Falciforme/genética , Fumar/epidemiologia
7.
South Med J ; 112(5): 289-294, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-31050799

RESUMO

OBJECTIVES: This study investigates whether genetic modifiers previously shown to influence adult fetal hemoglobin (HbF) levels and glucose-6-phosphate dehydrogenase deficiency were associated with variable symptomology in a small sample of collegiate football players with sickle cell trait. METHODS: Survey data on self-assessed symptoms and genotype data from five single nucleotide polymorphisms (SNPs) related to HbF production and two SNPs that cause glucose-6-phosphate dehydrogenase deficiency were collected from current and former college football players. RESULTS: In this sample, SNPs found within the ß-globin gene cluster were found to be associated with a previous diagnosis of exertional sickling and experience of extreme heat during and after training. rs10189857 in the BCL11A gene was associated with body mass index and weight and with experiencing extreme thirst during and after training. No significant correlations were found between the other SNPs and symptoms within this sample. CONCLUSIONS: These findings show that genetic variation known to affect sickle cell disease symptomology may partly explain why some football players with sickle cell trait experience adverse clinical outcomes during periods of extreme physical exertion and others do not.


Assuntos
Hemoglobina Fetal/metabolismo , Futebol Americano , Polimorfismo de Nucleotídeo Único , Traço Falciforme/sangue , Adulto , DNA/genética , Feminino , Genótipo , Humanos , Masculino , Proteínas Repressoras/genética , Proteínas Repressoras/metabolismo , Traço Falciforme/genética
10.
Br J Cancer ; 120(8): 861-863, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30890774

RESUMO

African-American (AA) cancer patients have long-experienced worse outcomes compared to non-Hispanic whites (NHW). No studies to date have evaluated the prognostic impact of sickle cell trait (SCT) and other inherited haemoglobinopathies, of which several are disproportionately high in the AA population. In a cohort analysis of treated patients diagnosed with breast or prostate cancer in the linked SEER-Medicare database, the relative risk (RR) for ≥1 serious adverse events (AEs), defined as hospitalisations or emergency department visits, was estimated for 371 AA patients with a haemoglobinopathy (AA+) compared to patients without haemoglobinopathies (17,303 AA-; 144,863 NHW-). AA+ patients had significantly increased risk for ≥1 AEs compared to AA- (RR = 1.19; 95% CI 1.11-1.27) and NHW- (RR = 1.23; 95% CI 1.15-1.31) patients. The magnitude of effect was similar by cancer type, and in analyses of AA+ with SCT only. Our findings suggest a novel hypothesis for disparities in cancer outcomes.


Assuntos
Afro-Americanos , Hemoglobinopatias/epidemiologia , Neoplasias/epidemiologia , Traço Falciforme/epidemiologia , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/patologia , Grupo com Ancestrais do Continente Europeu , Feminino , Hemoglobinopatias/sangue , Hemoglobinopatias/complicações , Hemoglobinopatias/patologia , Humanos , Masculino , Medicare , Neoplasias/sangue , Neoplasias/complicações , Neoplasias/patologia , Pacientes , Fatores de Risco , Programa de SEER , Traço Falciforme/sangue , Traço Falciforme/complicações , Traço Falciforme/patologia , Estados Unidos/epidemiologia
11.
PLoS One ; 14(2): e0212552, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30768636

RESUMO

Fasting glucose (FG) and glycated hemoglobin A1c (HbA1c) perform sub-optimally in people of African origin, especially in individuals with sickle-cell trait (SCT). The purpose of this study was to compare the relationships between HbA1c, FG, and fructosamine in individuals from Senegal with and without SCT. HbA1c, FG, and fructosamine were measured in 203 adults from Senegal (100 control: 45 with type 2 diabetes (T2D); 103 SCT: 51 with T2D). Significant, positive correlations were observed between HbA1c and FG, fructosamine and FG, and fructosamine and HbA1c in both groups. The limits of agreement were inappropriately large in both groups for the Bland-Altman plots of HbA1c and FG (control: -95.97 to 83.97%; SCT: -115.9 to 91.52%), fructosamine and FG (control: -100.6 to 99.89%; SCT: -105.6 to 100.6%), and fructosamine and HbA1c (control: -52.03 to 38.98%; SCT: -88.04 to 71.41%). In both groups, the greatest proportion of subjects were considered above the clinical cut-point for hyperglycemia when fructosamine was used as the criterion (control: 33%; SCT: 44.6%), and the lowest percentage of subjects were classified as over the clinical cut-point when HbA1c was used as the criterion (control: 21%; SCT: 27.7%).Substantial disparities between HbA1c, FG, and fructosamine were observed in both groups, and these differences were exaggerated in the SCT group. Therefore, these three biomarkers should not be considered to be interchangeable measures of glycemic control. These biomarkers should be used thoughtfully, and special care should be taken when using them in individuals with SCT.


Assuntos
Glicemia/análise , Frutosamina/sangue , Hemoglobina A Glicada/análise , Traço Falciforme/sangue , Adulto , Jejum , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Senegal/epidemiologia , Traço Falciforme/epidemiologia
12.
Niger J Clin Pract ; 22(2): 201-207, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30729943

RESUMO

Background: Although sickle cell disease has become a recognized etiology of chronic kidney disease (CKD), the sickle cell trait (SCT) variant was until recently believed to be a benign carrier state with little or no effect on the health of affected individuals. However, recent studies now appear to suggest an association between SCT and CKD. Objective: The objective of the study is to determine the association between SCT (hemoglobin AS) and renal dysfunction among young Nigerian adults. Methodology: This was a cross-sectional, descriptive study among apparently healthy undergraduates of Adeyemi College of Education, Ondo, southwest Nigeria. Their hemoglobin genotypes were determined using standard alkaline electrophoresis; their blood pressure, anthropometry, serum total cholesterol (TC), creatinine, and estimated glomerular filtration rate (eGFR) were determined. Data analyzed using Statistical Package for Social Sciences (SPSS) 20 were significant at P < 0.05. Results: Six hundred and two subjects with HbAS (SCT, n = 465) and HbAA (non-SCT, n = 137) were studied. Their age range was 18-30 years with male-to-female ratio 1:3.8. There was no difference in the prevalence of renal dysfunction between SCT and non-SCT subjects (5.1% vs. 5.2%, P = 0.591). There was no increased risk of CKD among subjects with SCT (PR, 0.99 at 95% CI [0.417-2.348]). Conclusion: SCT was not associated with increased risk of renal dysfunction among young adults in Nigeria. Further studies are needed to clarify the controversy, especially in Nigeria, with a relatively higher prevalence of SCT.


Assuntos
Grupo com Ancestrais do Continente Africano/estatística & dados numéricos , Insuficiência Renal Crônica/epidemiologia , Traço Falciforme/epidemiologia , Adolescente , Adulto , Anemia Falciforme/complicações , Anemia Falciforme/epidemiologia , Pressão Sanguínea , Creatinina/sangue , Estudos Transversais , Feminino , Taxa de Filtração Glomerular , Hemoglobina A , Humanos , Masculino , Nigéria/epidemiologia , Prevalência , Insuficiência Renal Crônica/complicações , Traço Falciforme/sangue , Adulto Jovem
13.
Perfusion ; 34(4): 334-336, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30628549

RESUMO

Sickle cell anaemia results from homozygosity of an A-T point mutation leading to a substitution of glutamic acid for valine at point 6 of the ß-globin gene. A person with sickle cell trait inherits one normal and one mutated allele. Patients with sickle cell anaemia, and to a lesser extent sickle cell trait, have a wide spectrum of haemostatic abnormalities. Here we describe the problems faced in obtaining an accurate activated clotting time measurement, in a patient with sickle cell trait, prior to commencement of cardiopulmonary bypass for decannulation of Berlin Heart.


Assuntos
Anemia Falciforme/sangue , Coagulação Sanguínea/fisiologia , Traço Falciforme/sangue , Pré-Escolar , Humanos , Masculino
14.
Am J Hematol ; 94(1): 39-45, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30290004

RESUMO

Sickle cell disease (SCD) is a common, life-threatening genetic disorder that is best managed when diagnosed early by newborn screening. However, SCD is most prevalent in low-resource regions of the world where newborn screening is rare and diagnosis at the point-of-care is challenging. In many such regions, the majority of affected children die, undiagnosed, before the age of 5 years. A rapid and affordable point-of-care test for SCD is needed. The diagnostic accuracy of HemoTypeSC, a point-of-care immunoassay, for SCD was evaluated in individuals who had SCD, hemoglobin C disease, the related carrier (trait) states, or a normal hemoglobin phenotype. Children and adults participated in low-, medium- and high-resource environments (Ghana [n = 383], Martinique [n = 46], and USA [n = 158]). Paired blood specimens were obtained for HemoTypeSC and a reference diagnostic assay. HemoTypeSC testing was performed at the site of blood collection, and the reference test was performed in a laboratory at each site. In 587 participants, across all study sites, HemoTypeSC had an overall sensitivity of 99.5% and specificity of 99.9% across all hemoglobin phenotypes. The test had 100% sensitivity and specificity for sickle cell anemia. Sensitivity and specificity for detection of normal and trait states were >99%. HemoTypeSC is an inexpensive (<$2 per test), accurate, and rapid point-of-care test that can be used in resource-limited regions with a high prevalence of SCD to provide timely diagnosis and support newborn screening programs.


Assuntos
Anemia Falciforme/diagnóstico , Imunoensaio , Sistemas Automatizados de Assistência Junto ao Leito , Adulto , Anemia Falciforme/sangue , Anemia Falciforme/epidemiologia , Anticorpos Monoclonais/imunologia , Criança , Países em Desenvolvimento , Diagnóstico Precoce , Feminino , Gana/epidemiologia , Hemoglobina A/análise , Hemoglobina C/análise , Doença da Hemoglobina C/sangue , Doença da Hemoglobina C/diagnóstico , Doença da Hemoglobina C/epidemiologia , Hemoglobina Falciforme/análise , Humanos , Imunoensaio/economia , Recém-Nascido , Masculino , Martinica/epidemiologia , Triagem Neonatal/economia , Triagem Neonatal/métodos , Prevalência , Estudos Prospectivos , Sensibilidade e Especificidade , Traço Falciforme/sangue , Traço Falciforme/diagnóstico , Traço Falciforme/epidemiologia , Método Simples-Cego
15.
Microvasc Res ; 122: 111-116, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30513282

RESUMO

OBJECTIVE: Type 2 diabetes (T2D)-related vascular dysfunction and hemorheological abnormalities could possibly be amplified by sickle cell trait (SCT). These alterations could potentially increase the risk of vascular complications in individuals with combined T2D and SCT. Therefore, this study used a mouse model to determine whether vascular function and blood rheology were more severely altered in combined T2D and SCT than in T2D or SCT alone. METHODS: Townes transgenic mice with or without SCT received a 12-week high fat high sucrose or standard diet to create models of combined T2D-SCT, T2D, SCT, and controls. Pressure-induced vasodilation (PIV) and sodium nitroprusside (SNP)-mediated vasodilation in-vivo, and hemorheological parameters were measured. RESULTS: No significant differences in blood viscosity, hematocrit, erythrocyte deformability, or PIV were observed between the control and T2D mice, or the control and SCT mice. However, blood viscosity, erythrocyte deformability, and PIV were significantly altered in the T2D-SCT mice compared to the control mice. There were no differences in SNP response between the groups. CONCLUSIONS: Although neither T2D nor SCT alone had significant effects on blood rheology parameters or vascular function, combined T2D-SCT mice had significantly altered blood rheology and significantly impaired vascular function.


Assuntos
Pressão Sanguínea , Diabetes Mellitus Experimental/complicações , Angiopatias Diabéticas/etiologia , Hemorreologia , Traço Falciforme/complicações , Pele/irrigação sanguínea , Vasodilatação , Animais , Glicemia/metabolismo , Viscosidade Sanguínea , Diabetes Mellitus Experimental/sangue , Diabetes Mellitus Experimental/fisiopatologia , Angiopatias Diabéticas/sangue , Angiopatias Diabéticas/fisiopatologia , Deformação Eritrocítica , Camundongos Transgênicos , Traço Falciforme/sangue , Traço Falciforme/genética , Traço Falciforme/fisiopatologia
16.
Mol Biochem Parasitol ; 227: 5-14, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30472238

RESUMO

Deficiency of glucose-6-phosphate dehydrogenase (G6PD) and sickle cell trait (SCT) are described as the polymorphic disorders prevalent in erythrocytes. Both are considered the result of the selective pressure exerted by Plasmodium parasites over human genome, due to a certain degree of resistance to the clinical symptoms of severe malaria. There exist in both a prooxidant environment that favors the oxidative damage on membrane proteins, which probably is part of molecular protector mechanisms. Nevertheless, mechanisms are not completely understood at molecular level for each polymorphism yet, and even less if are commons for several of them. Here, synchronous cultures at high parasitemia levels of P. falciparum 3D7 were used to quantify oxidative damage in membrane proteins of erythrocytes with G6PD deficient and SCT. Carbonyl index by dot blot assay was used to calculate the variation of oxidative damage during the asexual phases. Besides, protein carbonylation profiles were obtained by Western blot and complemented with mass spectrometry using MALDI-TOF-TOF analysis. Erythrocytes with G6PD deficient and SCT showed higher carbonyl index values than control and similar profiles of carbonylated proteins; moreover, cytoskeletal and stress response proteins were identified as the main targets of oxidative damage. Therefore, both polymorphisms promote carbonylation on the same membrane proteins. Finally, these results allowed to reinforce the hypothesis of oxidative damage in erythrocyte membrane proteins as molecular mechanism of human adaptation to malaria infection.


Assuntos
Eritrócitos/parasitologia , Deficiência de Glucosefosfato Desidrogenase/sangue , Malária Falciparum/sangue , Proteínas de Membrana/metabolismo , Plasmodium falciparum/metabolismo , Traço Falciforme/sangue , Membrana Eritrocítica/metabolismo , Membrana Eritrocítica/parasitologia , Eritrócitos/enzimologia , Eritrócitos/metabolismo , Deficiência de Glucosefosfato Desidrogenase/metabolismo , Deficiência de Glucosefosfato Desidrogenase/parasitologia , Humanos , Malária Falciparum/metabolismo , Malária Falciparum/parasitologia , Oxirredução , Estresse Oxidativo , Plasmodium falciparum/genética , Carbonilação Proteica , Traço Falciforme/metabolismo , Traço Falciforme/parasitologia
17.
J Clin Endocrinol Metab ; 104(2): 328-336, 2019 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-30358859

RESUMO

Purpose: HbA1c levels are higher in blacks than non-Hispanic whites (NHWs). We investigated whether genetics could explain this difference in Diabetes Prevention Program (DPP) participants. Methods: We tested (i) genetic variants causing hemoglobinopathies, (ii) a genetic risk score (GRS) based on 60 variants associated with HbA1c from genome-wide association meta-analysis, and (iii) principal component (PC) factors that capture continental ancestry derived from genetic markers distributed across the genome. Results: Of 2658 eligible DPP participants, 537 (20%) self-identified as black and 1476 (56%) as NHW. Despite comparable fasting and 2-hour glucose levels, blacks had higher HbA1c (mean ± SD = 6.2 ± 0.6%) compared with NHWs (5.8 ± 0.4%; P < 0.001). In blacks, the genetic variant causing sickle cell trait was associated with higher HbA1c [ß (SE) = +0.44 (0.08)%; P = 2.1 × 10-4]. The GRS was associated with HbA1c in both blacks and NHWs. Self-identified blacks were distributed along the first PC axis, as expected in mixed ancestry populations. The first PC explained 60% of the 0.4% difference in HbA1c between blacks and NHWs, whereas the sickle cell variant explained 16% and GRS explained 14%. Conclusions: A large proportion of HbA1c difference between blacks and NHWs was associated with the first PC factor, suggesting that unidentified genetic markers influence HbA1c in blacks in addition to nongenetic factors.


Assuntos
Afro-Americanos/genética , Diabetes Mellitus Tipo 2/prevenção & controle , Grupo com Ancestrais do Continente Europeu/genética , Marcadores Genéticos/genética , Hemoglobina A Glicada/análise , Adulto , Idoso , Feminino , Variação Genética , Estudo de Associação Genômica Ampla , Humanos , Masculino , Pessoa de Meia-Idade , Análise de Componente Principal , Traço Falciforme/sangue , Traço Falciforme/genética
20.
Diabetes Care ; 41(12): 2595-2602, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30327363

RESUMO

OBJECTIVE: The prevalence of type 2 diabetes (T2D) is rapidly increasing in sub-Saharan Africa, where sickle cell trait (SCT) is also frequent. Although SCT is generally considered a benign condition, evidence suggests that SCT could exaggerate vascular dysfunction in T2D. However, it remains unclear whether SCT could increase the risk of the development of T2D complications. Therefore, this study was conducted to determine whether T2D complications were more prevalent among Senegalese individuals with SCT and T2D than among those with T2D only. RESEARCH DESIGN AND METHODS: Rates of hypertension, retinopathy, peripheral neuropathy, peripheral artery disease, and impaired renal function as well as arterial stiffness, blood rheology, and concentrations of plasma advanced glycation end products (AGEs) and cytokines were compared between groups of Senegalese individuals with combined SCT and T2D (T2D-SCT) (n = 60), T2D (n = 52), SCT (n = 53), and neither T2D nor SCT (control) (n = 56). Human aortic endothelial cell (HAEC) expression of inflammatory and adhesion factors was measured after treatment with tumor necrosis factor-α and subjects' plasma. Effects of AGE inhibition or tiron on HAEC expression of E-selectin were measured. RESULTS: Retinopathy, hypertension, and reduced renal function were more prevalent, and arterial stiffness, blood viscosity at high shear rates, and thixotropic index were higher, in the SCT group compared with the other groups. Multivariable analysis showed that plasma AGE concentration was significantly associated with arterial stiffness. E-selectin expression was elevated in HAECs treated with T2D-SCT plasma compared with the other groups, but AGE inhibition reversed this. CONCLUSIONS: SCT could potentially augment the risk of the development of T2D-related complications, including retinopathy, nephropathy, and hypertension.


Assuntos
Complicações do Diabetes/epidemiologia , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/epidemiologia , Traço Falciforme/complicações , Traço Falciforme/epidemiologia , Adulto , Estudos de Casos e Controles , Complicações do Diabetes/complicações , Diabetes Mellitus Tipo 2/sangue , Feminino , Humanos , Hipertensão/complicações , Hipertensão/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Senegal/epidemiologia , Traço Falciforme/sangue
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...