Ney Boa-Sorte

Poor zinc and selenium status in phenylketonuric children and adolescents in Brazil

Because of the restricted intake of high-biologic-value protein, children with phenylketonuria (PKU) may have lower than normal plasma concentrations of copper, zinc, and selenium. The purpose of the present study was to investigate erythrocyte zinc levels and serum copper and selenium levels in children and adolescents with PKU by analyzing the relation between their diet and the laboratory profiles of these elements. The study was conducted in 32 children and adolescents with PKU, who were on a special diet. Dietary records and blood samples were collected from each subject. Erythrocyte zinc and serum selenium levels were below normal in 37.5% and 90.6% of the subjects, respectively. Plasma copper levels were normal. Metabolic formulas were the only source of 86.9% of the zinc, 65.6% of the copper, and 32.4% of the selenium. Despite this, there was no significant correlation between the zinc formula supply and erythrocyte zinc levels (rho = -0.143, P = .435) or the supply and serum levels for copper (rho = -0.117, P = .523) and selenium (rho = 0.113, P = .538). These results suggest that Brazilian patients with PKU present with low ingestion levels, low serum selenium levels, and low erythrocyte zinc levels.

HTLV-1 in pregnant women from the Southern Bahia, Brazil: a neglected condition despite the high prevalence

BackgroundAs the most frequent pathway of vertical transmission of HTLV-1 is breast-feeding, and considering the higher prevalence in women, it is very important to perform screening examinations for anti-HTLV-1 antibodies as part of routine prenatal care. So far, no studies of HTLV-1 seroprevalence in pregnant women in the Southern region of Bahia, Brazil, have been described.MethodsPregnant women were selected at the two regional reference centers for health care from Southern Bahia. A total of 2766 pregnant women attending the antenatal unit between November 2008 and May 2010 have been analyzed. An extra blood sample was drawn during their routine antenatal testing. A standardized questionnaire was applied and all positive plasma samples were tested by ELISA and were confirmed by Western Blot and PCR. Besides that, positive women were contacted and visited. The family members that were present during the visit were asked to be serologically screened to the virus. A prospective study was also carried out and newborns were followed up to two years for evaluation of vertical transmission.ResultsHTLV prevalence was 1.05% (CI 95%: 0.70-1.50). There was no association of HTLV-1 infection with age, education, income and ethnic differences. The association with marital status was borderline (OR = 7.99; 95% CI 1.07-59.3; p = 0.042). In addition, 43 family members of the HTLV-1 seropositive women have been analyzed and specific reactivity was observed in 32.56%, including two children from previous pregnancy.Conclusion: It is very important to emphasize that the lack of HTLV-1 screening in pregnant women can promote HTLV transmission especially in endemic areas. HTLV screening in this vulnerable population and the promotion of bottle-feeding for children of seropositive mothers could be important cost-effective methods to limit the vertical transmission. Besides that, our data reinforce the need to establish strategies of active surveillance in household and family contacts as important epidemiological surveillance actions for the early detection of virus infection and the prevention of transmission by sexual or and parenteral contact.

Aspectos clínicos da fenilcetonúria em serviço de referência em triagem neonatal da Bahia

OBJETIVOS: descrever as caracteristicas clinicas dos pacientes com hiperfenilalaninemia acompanhados no Servico de Referencia em Triagem Neonatal (SRTN) do estado da Bahia. METODOS: estudo descritivo transversal, tendo como amostra todos os pacientes com diagnostico conhecido de Hiperfenilalaninemia residentes no estado da Bahia e acompanhados no SRTN ate setembro de 2005. Tal populacao e composta de 46 familias, num total de 51 pacientes. A analise dos dados foi descritiva, incluindo medidas de tendencia central e dispersao. RESULTADOS: houve discreto predominio do genero feminino (52,9%). A maioria dos pacientes (78,4%) teve seu diagnostico estabelecido atraves da triagem neonatal, tendo, portanto, tratamento precoce. Consanguinidade foi registrada em 32,6% das familias. A media de inicio do tratamento entre os pacientes diagnosticados pela triagem neonatal foi de 56,6 37,8 dias, enquanto que entre os pacientes com diagnostico tardio, foi de 7,1 anos. CONCLUSOES: o estudo descreve um grupo de pacientes representativo de uma patologia incluida no Programa Nacional de Triagem Neonatal (PNTN), sendo, portanto, de relevância para a saude publica. Entre os dados clinicos, chama a atencao a media de idade do inicio do tratamento, superior ao recomendado na literatura, alertando para a necessidade de um maior enfoque no diagnostico precoce.

Lesão renal aguda séptica versus não séptica em pacientes graves: características e desfechos clínicos

Objetivo: Descrever e comparar as caracteristicas e os desfechos clinicos de pacientes com lesao renal aguda septica e nao septica. Metodos: Coorte aberta com 117 pacientes graves com lesao renal aguda consecutivamente admitidos em unidade de terapia intensiva, sendo excluidos aqueles que apresentavam doenca renal cronica em estagio avancado, transplante renal, internacao ou morte em um periodo inferior a 24 horas. Presenca de sepse e obito intra-hospitalar representaram, respectivamente, a exposicao e o desfecho principal. Analise de confundimento foi realizada com a regressao logistica. Resultados: Nao houve diferencas na media de idade entre os grupos com lesao renal aguda septica e nao septica [65,30±(21,27) anos versus 66,35±12,82 anos; p=0,75]. Nos dois grupos, similarmente, observou-se predominio do sexo feminino (57,4% versus 52,4%; p=0,49) e de afrodescendentes (81,5% versus 76,2%; p=0,49). Os pacientes com sepse apresentaram maiores medias de escore Acute Physiology and Chronic Health Evaluation II [21,73±7,26 versus 15,75± (5,98; p 18,5 (OR: 9,77; IC95%: 3,73-25,58) foram associados ao obito. Conclusao: Sepse foi um preditor independente para obito. Existem diferencas entre as caracteristicas e desfechos clinicos dos pacientes com lesao renal aguda septica versus nao septica.Objective This study aimed to describe and compare the characteristics and clinical outcomes of patients with septic and non-septic acute kidney injury. Methods This study evaluated an open cohort of 117 critically ill patients with acute kidney injury who were consecutively admitted to an intensive care unit, excluding patients with a history of advanced-stage chronic kidney disease, kidney transplantation, hospitalization or death in a period shorter than 24 hours. The presence of sepsis and in-hospital death were the exposure and primary variables in this study, respectively. A confounding analysis was performed using logistic regression. Results No significant differences were found between the mean ages of the groups with septic and non-septic acute kidney injury [65.30±21.27 years versus 66.35±12.82 years, respectively; p=0.75]. In the septic and non-septic acute kidney injury groups, a predominance of females (57.4% versus 52.4%, respectively; p=0.49) and Afro-descendants (81.5% versus 76.2%, respectively; p=0.49) was observed. Compared with the non-septic patients, the patients with sepsis had a higher mean Acute Physiology and Chronic Health Evaluation II score [21.73±7.26 versus 15.75±5.98; p<0.001)] and a higher mean water balance (p=0.001). Arterial hypertension (p=0.01) and heart failure (p<0.001) were more common in the non-septic patients. Septic acute kidney injury was associated with a greater number of patients who required dialysis (p=0.001) and a greater number of deaths (p<0.001); however, renal function recovery was more common in this group (p=0.01). Sepsis (OR: 3.88; 95%CI: 1.51-10.00) and an Acute Physiology and Chronic Health Evaluation II score >18.5 (OR: 9.77; 95%CI: 3.73-25.58) were associated with death in the multivariate analysis. Conclusion Sepsis was an independent predictor of death. Significant differences were found between the characteristics and clinical outcomes of patients with septic versus non-septic acute kidney injury.

Impact of depression on quality of life in people living with human T cell lymphotropic virus type 1 (HTLV-1) in Salvador, Brazil.

PurposeA previous study found the prevalence of depression in HTLV-1-infected patients to be approximately 30%, but few studies have attempted to correlate depression with quality of life (QOL) in these patients. The present study investigates the association between depression and QOL in people living with HTLV-1.MethodsA clinical-epidemiological questionnaire, the Mini International Neuropsychiatric Interview and the WHOQOL-Bref were applied to 88 HTLV-1-infected patients (32 with TSP/HAM) at the HTLV Center of the Bahiana School of Medicine and Public Health, Salvador, Brazil.ResultsThe prevalence of depression among people living with HTLV-1 was 34.1%. Depression was significantly associated with a poor QOL in the physical, psychological, social relationship and environment domains, when controlling for other variables, such as gender, age, time of knowledge of serological diagnosis and presence of tropical spastic paraparesis/HTLV-1associated myelopathy (TSP/HAM). Moreover, patients with TSP/HAM experienced a reduction in their QOL in the physical, psychological and environment domains.ConclusionOur results showed that depression negatively affects the quality of life of people living with HTLV-1, regardless of the presence of TSP/HAM. Since it is possible to improve a patient’s QOL by treating depression, psychological evaluations are strongly recommended as a measure to integrate the treatment protocols of HTLV-1 intervention programs.

Dried blood spot testing for the antenatal screening of HTLV, HIV, syphilis, toxoplasmosis and hepatitis B and C: prevalence, accuracy and operational aspects

INTRODUCTION Screening for vertically transmitted infection is mandatory and must be conducted at the first prenatal consultation. The most vulnerable womens groups are those at the lowest socio-economic level. Dried blood spot testing on filter paper could represent a secure way to screen pregnant women in the prenatal period. METHODS A cross-sectional study was conducted between November 2009 and March 2010, in the Metropolitan Region of Salvador, Bahia, Brazil, to compare the accuracy of the dried blood spot in filter paper and venipuncture serological as screening methods for HIV, HTLV, VHB, VHC, Treponema pallidum, and Toxoplasma gondii during prenatal period. Results of the venous blood sample collected in tubes were considered the gold standard. RESULTS Serum samples and dried blood spot were obtained from 692 pregnant women aged between 14 and 42 years, with a median age of 26. Thirteen women were seropositive for T. gondii (1.88%; 95% CI: 0.60-2.71%), five for T. pallidum (0.72%; 95% CI: 0.15-1.61%), two for HBV (0.29%; 95% CI: 0.050.95%) and one for HTLV-1 (0.14%; 95% CI: 0.01-0.71%). No one was positive for HCV and HIV. The dried blood spot accuracy for syphilis and HTLV were 100% (95% CI: 99.25-100) and 100% (95% CI: 99.45-100%), respectively. The average time between blood collection and recording of the sample in the reference laboratory was 4.93 (3.82) days and between dried blood spot processing and active search for pregnant women was 3.44 (4.27) days. CONCLUSIONS The use of dried blood spot may represent a secure way to expedite access to results of vertically transmitted diseases in the prenatal period, particularly in regions with scarce healthcare resources.

Aspectos clínicos e demográficos da fenilcetonúria no Estado da Bahia

OBJETIVO: Describir las caracteristicas clinicas y demograficas de los pacientes con diagnostico de Hiperfenilalaninemia (HPA) seguidos en el Servicio de Referencia en Seleccion Neonatal de Bahia. METODOS: Estudio transversal incluyendo a 99 familias (111 afectados) con fenotipo bioquimico de HPA, con recoleccion de datos en prontuarios y en base de datos laboratorial, incluso aspectos demograficos y clinicos. Se realizo el analisis descriptivo de los datos utilizando promedios (desviacion estandar) y medianas (percentiles 25-75). RESULTADOS: La incidencia de HPA en Bahia fue de un caso a cada 16.334 nacidos vivos (NV), con cobertura de 90,8%. Entre los pacientes seguidos, el 82% fueron diagnosticados por la seleccion neonatal, y en 11 familias habia mas de un caso. El fenotipo clasico de la fenilcetonuria fue diagnosticado en 63 (56,8%) pacientes. Entre los seleccionados, la mediana de edad en la primera consulta fue de 39,5 dias (fenilcetonuria clasica) y, de ellos, el 34% presentaba sintomas en ese momento, ninguno de ellos con retraso en el desarrollo neuropsicomotor. La consanguinidad fue descrita en 32,2% de los casos y hubo predominio de pacientes clasificados como blancos (63%). Los padres tenian baja escolaridad y bajos ingresos. Entre los 417 municipios de Bahia, el 14,6% presentaba al menos un caso, con concentracion en la region nordeste (9,9%) y capital de la provincia (14,4%). CONCLUSIONES: Los resultados evidenciaron edad tardia al inicio del tratamiento, lo que puede comprometer los resultados del programa. Se observo, ademas, la presencia de consanguinidad y recurrencia familiar, reforzando la importancia de investigacion familiar para diagnosticar individuos con deficiencia mental de etiologia no aclarada que pueden beneficiarse de tratamiento.Objective: To describe demographic and clinical characteristics of patients with hyperphenylalaninemia followed at the Neonatal Screening Reference Service of Bahia, Brazil. Method: Cross-sectional study including 99 families (111 affected individuals) with biochemical phenotype of hyperphenylalaninemia by chart review and laboratory database that include demographic and clinical features. Results: The incidence of hyperphenylalaninemia in Bahia was one case per 16,334 live births, covering 91% of them. Among patients followed, 82% were diagnosed by newborn screening and, in 11 families, there were more than one case. The classic phenotype of phenylketonuria was diagnosed in 63 (57%) patients. Among those screened, the median age at first consultation was 39.5 days. Among the patients, 34% had symptoms at the first medical consulta tion, none of them with delayed neurodevelopment. Consanguinity was reported in 32% of patients. Affected individuals were predominantly classified as white (63%). The parents had low education and low income. Among the 417 municipalities of Bahia, 15% had at least one case, with a concentration in the Northeast (10%) and in the capital of the State (14%). Conclusions: The results showed elevated age at the beginning of the treatment, which may compromise the program results. Presence of consanguinity and familial recurrence were also noted. Careful investigation of families searching for individuals with mental retardation of unknown etiology that would benefit from the treatment is important.

Keratoconjunctivitis sicca of human T cell lymphotropic virus type 1 (HTLV-1) infected individuals is associated with high levels of HTLV-1 proviral load

BACKGROUND A high HTLV-1 proviral load is found in HTLV-1-associated diseases, mainly HAM/TSP. However, the association between proviral load and keratoconjunctivitis sicca (KCS) has not been well established. AIM To verify the association between KCS and HTLV-1 proviral load. STUDY DESIGN 104 HTLV-1 infected patients (51 asymptomatic and 52 with HAM/TSP) from the HTLV reference center in Salvador, Brazil were followed from June 2008 to May 2010. Evaluation of tear secretion was performed by BUT (break-up time), Rose Bengal and Schirmer I tests. The diagnosis of KCS was based upon the presence of symptoms and when at least two of three tests were positive. HTLV-1 proviral load was determined using real-time PCR. RESULTS The prevalence of KCS was 44.2%. KCS was more frequent among HAM/TSP patients (p = 0.022). Patients with KCS had higher proviral load (mean 134,672 ± 150,393copies/10(6) PBMC) than patients without the disease (mean 66,880 ± 109,525copies/10(6) PBMC) (p = 0.001). HTLV-1 proviral load>100,000copies/10(6) PBMC increased significantly the risk of developing KCS (OR = 4.05 and 95% CI = 1.40-11.76). After age>45 years and HAM/TSP status were excluded in stepway reward analysis, the variables PVL>100,000 (OR = 4.77 and 95% CI = 1.83-12.44) still remained statistically significant. CONCLUSION HTLV-1 proviral loads are higher in patients with KCS and may represent a relevant biological marker of disease.

HTLV-1 is predominantly sexually transmitted in Salvador, the city with the highest HTLV-1 prevalence in Brazil

Background Salvador is the city with the highest number of HTLV-1 infected individuals in Brazil, yet the main route of HTLV-1 transmission is unknown. Objective To investigate the association of syphilis infection as a proxy for sexual transmission of HTLV-1 infection in the general population of this city. Methods A cross sectional population-based study was conducted with 3,451 serum samples obtained by a representative simple random sampling. Data on gender, age, income, and years of education were collected by questionnaire and the presence of HTLV, HIV and Treponema pallidum infection was determined by serology. Logistic regression analysis was used to evaluate the independent effect of the potential explanatory variables to HTLV-1 infection and Odds Ratios (OR) and 95% CI were calculated. Results The majority of studied individuals were female (56.4%), had less than 7 years of education (55.3%) and earned two or less minimum wages (52.0%). The overall prevalence of HTLV-1 was 1.48% (51/3,451; 95% CI: 1.10%– 1.94%), which increased with age. Only three persons younger than 17 (3/958; 0.31%; CI 95% 0.06–0.91) years were infected by HTLV-1. Among the 45 syphilis positives, 12 (26.7%) were HTLV positive, while among 21 HIV positives, only one (4.8%) was HTLV positive. HTLV-1 infection was found to be associated with syphilis infection (ORADJUSTED 36.77; 95% CI 14.96–90.41). Conclusion The data presented herein indicate that horizontal transmission between adults is the main route of HTLV-1 infection in the general population of Salvador and that this is likely to occur through sexual contact.

Hemoglobin A2 values in sickle cell disease patients quantified by high performance liquid chromatography and the influence of alpha thalassemia

Background In sickle cell disease, the quantification of Hb A2 is important for the differential diagnosis between sickle cell anemia (Hb SS) and Hb S/β0-thalassemia. Objective To determine Hb A2 levels as quantified by high performance liquid chromatography in patients with sickle cell anemia (Hb SS) and with the SC hemoglobinopathy, with or without concomitant alpha thalassemia. Methods This is a retrospective study of 242 children aged between two and six years with diagnoses of Hb SS or Hb SC. The hemoglobin was evaluated using high performance liquid chromatography and alpha thalassemia [3.7 kb deletion (−α3.7)] was detected by polymerase chain reaction. Patients were classified as homozygous (−α3.7/−α3.7), heterozygous (−α3.7/α), or homozygous wild-type. Analysis of variance was used to compare the mean Hb A2 values between the alpha thalassemia groups. Results The mean (± standard deviation) Hb A2 concentrations in the Hb SS group (n = 135) was 3.68 ± 0.65%. The mean values for individuals with Hb SS and heterozygous (n = 28) or homozygous for alpha thalassemia (n = 3) were 3.98 ± 0.64% and 4.73 ± 0.25%, respectively. The mean Hb A2 of all the Hb SC patients (n = 107) was 4.01 ± 0.507 with 4.29 ± 0.41% and 4.91 ± 0.22% in individuals heterozygous (n = 23) and homozygous for alpha thalassemia (n = 7), respectively. All patients homozygous for alpha thalassemia had Hb A2 levels above 3.5%. However, Hb A2 values above 5.2% were seen in patients with Hb SS and Hb SC, independently of alpha thalassemia. Conclusion Hb A2 levels are elevated in patients with Hb S or Hb C, and are directly influenced by the alpha thalassemia genotypes.