Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 8 de 8
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
J Clin Lab Anal ; 35(6): e23802, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33938598

RESUMO

BACKGROUND: Stroke is a devastating complication of sickle cell anemia (SCA) and can be predicted through abnormally high cerebral blood flow velocity using transcranial Doppler Ultrasonography (TCD). The evidence on the role of alpha-thalassemia and glucose-6-phosphate dehydrogenase (G6PD) deficiency in the development of stroke in children with SCA is conflicting. Thus, this study investigated the association of alpha-thalassemia and G6PD(A- ) variant with abnormal TCD velocities among Nigerian children with SCA. METHODS: One hundred and forty-one children with SCA were recruited: 72 children presented with normal TCD (defined as the time-averaged mean of the maximum velocity: < 170 cm/s) and 69 children with abnormal TCD (TAMMV ≥ 200 cm/s). Alpha-thalassemia (the α-3.7 globin gene deletion) was determined by multiplex gap-PCR, while G6PD polymorphisms (202G > A and 376A > G) were genotyped using restriction fragment length polymorphism-polymerase chain reaction. RESULTS: The frequency of α-thalassemia trait in the children with normal TCD was higher than those with abnormal TCD: 38/72 (52.8%) [α-/ α α: 41.7%, α -/ α -: 11.1%] versus 21/69 (30.4%) [α-/ α α: 27.5%, α -/ α -: 2.9%], and the odds of abnormal TCD were reduced in the presence of the α-thalassemia trait [Odds Ratio: 0.39, 95% confidence interval: 0.20-0.78, p = 0.007]. However, the frequencies of G6PDA- variant in children with abnormal and normal TCD were similar (11.6% vs. 15.3%, p = 0.522). CONCLUSION: Our study reveals the protective role of α-thalassemia against the risk of abnormal TCD in Nigerian children with SCA.


Assuntos
Anemia Falciforme/fisiopatologia , Deficiência de Glucosefosfato Desidrogenase/complicações , Acidente Vascular Cerebral/patologia , Talassemia alfa/complicações , Adolescente , Velocidade do Fluxo Sanguíneo , Estudos de Casos e Controles , Circulação Cerebrovascular , Criança , Pré-Escolar , Feminino , Seguimentos , Deficiência de Glucosefosfato Desidrogenase/diagnóstico por imagem , Deficiência de Glucosefosfato Desidrogenase/patologia , Humanos , Masculino , Nigéria/epidemiologia , Prognóstico , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/etiologia , Ultrassonografia Doppler Transcraniana , Talassemia alfa/diagnóstico por imagem , Talassemia alfa/patologia
2.
Transfus Apher Sci ; 60(4): 103133, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33846094

RESUMO

Transfusion-related lung injury (TRALI) is a condition that develops suddenly within the first six hours after a blood transfusion and it is one of the most important causes of blood transfusion-related mortality. There are few data in the literature about TRALI in the neonatal period. We present two newborn patients who developed TRALI after exchange transfusion due to high bilirubin levels. Our first case was a late preterm LGA baby and was on CPAP. The baby was intubated due to sudden deterioration after the exchange transfusion. Our second case was born at term and, an exchange transfusion was performed on the 5th day of life. He developed respiratory distress unexpectedly soon after the exchange transfusion and was intubated. Glucose-6- phosphate dehydrogenase (G6PD) deficiency was detected in both of our cases. We wanted to emphasize that TRALI should be considered in the differential diagnosis of respiratory distress that develops soon after a transfusion in the newborn period and to draw attention to that TRALI may develop more frequently in patients with G6PD deficiency.


Assuntos
Transfusão Total/efeitos adversos , Deficiência de Glucosefosfato Desidrogenase , Deficiência de Glucosefosfato Desidrogenase/sangue , Deficiência de Glucosefosfato Desidrogenase/diagnóstico por imagem , Deficiência de Glucosefosfato Desidrogenase/terapia , Humanos , Recém-Nascido , Masculino , Lesão Pulmonar Aguda Relacionada à Transfusão/sangue , Lesão Pulmonar Aguda Relacionada à Transfusão/diagnóstico por imagem , Lesão Pulmonar Aguda Relacionada à Transfusão/terapia
3.
Neurology ; 95(11): e1471-e1478, 2020 09 15.
Artigo em Inglês | MEDLINE | ID: mdl-32651291

RESUMO

OBJECTIVE: To assess the risk of glucose-6-phosphate dehydrogenase (G6PD) on stroke prognosis, we compared outcomes between patients with stroke with and without G6PD deficiency. METHODS: The study recruited 1,251 patients with acute ischemic stroke. Patients were individually categorized into G6PD-deficiency and non-G6PD-deficiency groups according to G6PD activity upon admission. The primary endpoint was poor outcome at 3 months defined by a modified Rankin Scale (mRS) score ≥2 (including disability and death). Secondary outcomes included the overall mRS score at 3 months and in-hospital death and all death within 3 months. Logistic regression and Cox models, adjusted for potential confounders, were fitted to estimate the association of G6PD deficiency with the outcomes. RESULTS: Among 1,251 patients, 150 (12.0%) were G6PD-deficient. Patients with G6PD deficiency had higher proportions of large-artery atherosclerosis (odds ratio [OR] 1.53, 95% confidence interval [CI] 1.09-2.17) and stroke history (OR 1.93, 95% CI 1.26-2.90) compared to the non-G6PD-deficient group. The 2 groups differed significantly in the overall mRS score distribution (adjusted common OR 1.57, 95% CI 1.14-2.17). Patients with G6PD deficiency had higher rates of poor outcome at 3 months (adjusted OR 1.73, 95% CI 1.08-2.76; adjusted absolute risk increase 13.0%, 95% CI 2.4%-23.6%). The hazard ratio of in-hospital death for patients with G6PD-deficiency was 1.46 (95% CI 1.37-1.84). CONCLUSIONS: G6PD deficiency is associated with the risk of poor outcome at 3 months after ischemic stroke and may increase the risk of in-hospital death. These findings suggest the rationality of G6PD screening in patients with stroke.


Assuntos
Isquemia Encefálica/diagnóstico por imagem , Isquemia Encefálica/mortalidade , Deficiência de Glucosefosfato Desidrogenase/diagnóstico por imagem , Deficiência de Glucosefosfato Desidrogenase/mortalidade , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/mortalidade , Idoso , Feminino , Seguimentos , Mortalidade Hospitalar/tendências , Humanos , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento
4.
Ann Med ; 50(1): 68-73, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28985689

RESUMO

BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited disorder common in Sardinia. In this study, the frequency variation of G6PD-deficiency across age groups and birth cohorts was investigated using Age-Period-Cohort analysis. METHODS: Data were collected from the clinical records of 11,252 patients (6975 women, age range 17-94 years) who underwent endoscopy between 2000 and 2016 at a teaching hospital (University of Sassari), Italy. G6PD status was assessed by enzymatic assay based on G6PD/6GPD ratio. A Poisson log-linear regression model was used to identify age and time trend in G6PD deficiency. RESULTS: Enzyme deficiency was detected in 11.4% of the entire cohort (men: 7.9%; women: 13.6%). Age-Period-Cohort analysis showed no inflection points across age groups, especially after age 80. The effects of time period and birth cohorts on G6PD deficiency were negligible (frequencies before and after 1950 were 11.0% and 11.8%, respectively). CONCLUSIONS: These findings indicate that the frequency of G6PD deficiency does not vary significantly in oldest subjects. The lack of evidence for selection across the malaria eradication time may be explained by other factors, including somatic cell selection or misclassification of heterozygotes women as G6PD normal in the older birth cohorts. Additional molecular studies may help clarify these issues. Key message The frequency of glucose-6-phosphate dehydrogenase deficiency is stable across age groups and does not vary in generations born before or after malaria eradication.


Assuntos
Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Glucosefosfato Desidrogenase/química , Malária/epidemiologia , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Erradicação de Doenças , Endoscopia/métodos , Feminino , Deficiência de Glucosefosfato Desidrogenase/diagnóstico por imagem , Deficiência de Glucosefosfato Desidrogenase/enzimologia , Deficiência de Glucosefosfato Desidrogenase/genética , Heterozigoto , Humanos , Itália/epidemiologia , Malária/complicações , Masculino , Pessoa de Meia-Idade , Espectrofotometria/métodos , Adulto Jovem
5.
Blood ; 112(10): 4314-7, 2008 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-18772456

RESUMO

Stroke is predicted by abnormally high cerebral velocities by transcranial doppler (TCD). This study aimed at defining predictive factors for abnormally high velocities (>/= 2 m/sec) based on the Créteil pediatric sickle cell anemia (SCA) cohort composed of 373 stroke-free SCA children. alpha genes and beta-globin haplotypes were determined. Biologic parameters were obtained at baseline. alpha-thalassemia was present in 155 of 325 and G6PD deficiency in 36 of 325 evaluated patients. TCD was abnormal in 62 of 373 patients. Multivariate logistic regression analysis showed that G6PD deficiency (odds ratio [OR] = 3.36, 95% confidence interval [CI] 1.10-10.33; P = .034), absence of alpha-thalassemia (OR = 6.45, 95% CI 2.21-18.87; P = .001), hemoglobin (OR per g/dL = 0.63, 95% CI 0.41-0.97; P = .038), and lactate dehydrogenase (LDH) levels (OR per IU/L = 1.001, 95% CI 1.000-1.002; P = .047) were independent risk factors for abnormally high velocities. This study confirms the protective effect of alpha-thalassemia and shows for the first time that G6PD deficiency and hemolysis independently increase the risk of cerebral vasculopathy.


Assuntos
Anemia Falciforme/fisiopatologia , Circulação Cerebrovascular , Deficiência de Glucosefosfato Desidrogenase/fisiopatologia , Hemólise , Talassemia alfa/fisiopatologia , Anemia Falciforme/sangue , Anemia Falciforme/diagnóstico por imagem , Anemia Falciforme/genética , Velocidade do Fluxo Sanguíneo/genética , Circulação Cerebrovascular/genética , Estudos de Coortes , Feminino , Globinas/análise , Globinas/genética , Deficiência de Glucosefosfato Desidrogenase/sangue , Deficiência de Glucosefosfato Desidrogenase/diagnóstico por imagem , Deficiência de Glucosefosfato Desidrogenase/genética , Hemólise/genética , Humanos , Hidroliases/sangue , Hidroliases/genética , Lactente , Masculino , Fatores de Risco , Acidente Vascular Cerebral/sangue , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/genética , Acidente Vascular Cerebral/fisiopatologia , Ultrassonografia Doppler Transcraniana , Talassemia alfa/sangue , Talassemia alfa/diagnóstico por imagem , Talassemia alfa/genética
8.
Clin Nucl Med ; 4(10): 405-6, 1979 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-498666

RESUMO

A case of splenic visualization of 99mTc-methylene diphosphonate in a patient with G-6PD deficiency who did not show radiographic evidence of splenic calcification is presented and discussed.


Assuntos
Deficiência de Glucosefosfato Desidrogenase/diagnóstico por imagem , Esplenopatias/diagnóstico por imagem , Adulto , Calcinose/complicações , Calcinose/diagnóstico por imagem , Difosfonatos , Feminino , Deficiência de Glucosefosfato Desidrogenase/complicações , Humanos , Cintilografia , Esplenopatias/complicações , Tecnécio
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...