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Objective: To determine the incidence of congenital hypothyroidism (CH) over a 10-year period at the Reference Service in Neonatal Screening of the state of Rio Grande do Sul (RSNS-RS). Subjects and methods: Historical cohort study including all newborns screened for CH by the RSNS-RS from January 2008 until December 2017. Data of all newborns with neonatal TSH (neoTSH; heel prick test) values ≥ 9 mIU/L were collected. According to neoTSH values, the newborns were allocated into two groups: Group 1 (G1), comprising newborns with neoTSH ≥ 9 mIU/L and serum TSH (sTSH) < 10 mIU/L, and Group 2 (G2), comprising those with neoTSH ≥ 9 mIU/L and sTSH ≥ 10 mIU/L. Results: Of 1,043,565 newborns screened, 829 (0.08%) had neoTSH values ≥ 9 mIU/L. Of these, 284 (39.3%) had sTSH values < 10 mIU/L and were allocated to the G1 group, while 439 (60.7%) had sTSH ≥ 10 mIU/L and were allocated to the G2 group, and 106 (12.7%) were considered missing data. The overall incidence of CH was 42.1 per 100,000 newborns screened (95% confidence interval [CI] 38.5-45.7/100,000) or 1:2377 screened newborns. The sensibility and specificity of neoTSH ≥ 9 mIU/L were 97% and 11%; of neoTSH 12.6 mUI/L, 73% and 85% respectively. Conclusion: In this population, the incidence of permanent and transitory CH was 1:2377 screened newborns. The neoTSH cutoff value adopted during the study period showed excellent sensibility, which matters for a screening test.
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Hipotireoidismo Congênito , Brasil/epidemiologia , Hipotireoidismo Congênito/epidemiologia , Triagem Neonatal , Humanos , Recém-Nascido , Estudos de Coortes , Tireotropina/sangueRESUMO
INTRODUCTION: During pregnancy, women are at an increased risk of developing iron-deficiency anemia. OBJECTIVE: The objective of this study was to assess the diagnostic performance of the reticulocyte hemoglobin equivalent (RET-He) in the early detection of iron-deficiency anemia in a group of pregnant women and to establish a reference range for this parameter in a group of control individuals. METHOD: A total of 60 patients and 130 control subjects were included in the study. Blood samples collected from the subjects were submitted to a complete blood count and a serum ferritin test and the data were analyzed by comparing the groups and ROC curves. RESULTS: The reference range found for the RET-He was between 29.75pg and 38.24pg, with a median of 35pg. The receiver operating characteristic (ROC) curve analysis for the ferritin parameter showed an area under the curve of 0.732 for the RET-He, 0.586 for hemoglobin, 0.551 for the mean corpuscular hemoglobin concentration and 0.482 for the mean corpuscular volume. CONCLUSION: Early diagnosis of iron deficiency anemia in pregnancy is essential to prevent damage to both maternal and fetal health. The RET-He presents an excellent potential as an auxiliary tool for the diagnosis of iron deficiency in pregnant women.
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Dairy operations generate large volumes of polluted wastewater that require treatment prior to discharge. Chemically enhanced primary treatment (CEPT) is a widely utilized wastewater treatment strategy; but it requires the use of non-biodegradable coagulants that can lead to toxic-byproducts. In this study, chitin from shrimp shell waste is extracted and converted into chitosan. Chitosan was demonstrated to be a natural, low-cost alternative coagulant compatible with the CEPT. Following treatment, dissolved air flotation allowed for the removal of turbidity, COD, and UV254 from the synthetic dairy effluent (SDE). Doehlert matrix was used to optimize the chitosan dosage and pH of the CEPT; as well as to model the process. The mechanisms behind the coagulation-flocculation were revealed using zeta potential analysis. FTIR spectroscopy was utilized to confirm the functional groups present on the chitosan. Chitosan with a degree of deacetylation equal to 81% was obtained. A chitosan dose of 73.34â mg/L at pH 5.00 was found to be optimal for the removal of pollutants. Removals of COD, turbidity and UV254 were 77.5%, 97.6%, and 88.8%, respectively. The amount of dry sludge generated to treat 1â m³ of SDE was 0.041â kg. Coagulation-flocculation mechanisms involved in chitosan-mediated treatment of SDE involve the neutralization of electrostatic charges carried on the amine groups present in cationic chitosan at pH 5.00. Doehlert matrix proved to be a useful tool in optimizing parameters throughout the coagulation-flocculation process. Chitosan from shrimp waste is a low-cost, eco-friendly coagulant alternative for the removal pollutants from dairy effluent using the CEPT.
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Quitosana , Purificação da Água , Floculação , Eliminação de Resíduos Líquidos , Águas ResiduáriasRESUMO
INTRODUCTION: The incorporation of molecular genetic testing into cystic fibrosis (CF) screening programs increases the specificity of the diagnostic strategy and has the potential to decrease the rate of false- positive results. In this sense, our objective was to develop a genotyping assay that could detect 25 pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene with high sensitivity and that could be incorporated into the routine of newborn screening, complementing the current existing protocol used in our public health institution. METHODS: A mini-sequencing assay was standardized using single-base extension in a previously genotyped control sample. This strategy was validated in a Brazilian cohort of CF patients by Sanger sequencing. RESULTS: The inclusion of the 25 variants in the current newborn screening program increased the identification rates of two alleles from 33 to 52.43% in CF patients. This new approach was able to detect a total of 37 variants, which represents 93.01% of all mutated alleles described in the last CF Brazilian Register. CONCLUSIONS: Mini-sequencing for the simultaneous detection of 25 CFTR gene variants improves the screening of Brazilian newborns and decreases the number of inconclusive cases. This method uses minimal hands-on time and is suited for rapid screening, which reduces sample processing costs.
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Alelos , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/diagnóstico , Fibrose Cística/genética , Testes Genéticos , Mutação , Triagem Neonatal , Substituição de Aminoácidos , Brasil/epidemiologia , Fibrose Cística/epidemiologia , Testes Genéticos/métodos , Genótipo , Humanos , Recém-Nascido , Reação em Cadeia da Polimerase Multiplex , Análise de Sequência de DNARESUMO
OBJECTIVE: To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. METHODS: A cross-sectional study was conducted. Newborns with suspected disease due to high 17-hydroxyprogesterone levels and adjusted for birth weight were selected. Classical congenital adrenal hyperplasia (salt-wasting and simple virilizing forms) was diagnosed by an increase in 17-hydroxyprogesterone levels as confirmed in the retest, clinical evaluation, and genotype determined by SNaPshot and multiplex ligation-dependent probe amplification. RESULTS: After 24 months, 15 classic congenital adrenal hyperplasia cases were diagnosed in a total of 217,965 newborns, with an estimated incidence of 1:14,531. From 132 patients, seven non-classical and 14 heterozygous patients were screened for CYP21A2 mutations, and 96 patients presented false positives with wild type CYP21A2. On retest, increased 17-hydroxyprogesterone levels were found in classical congenital adrenal hyperplasia patients and showed significant correlation with genotype-related classical genital adrenal hyperplasia. The most frequent mutations were IVS2-13A/C>G followed by gene deletion or rearrangement events in the classical form. In non-classical and heterozygous diseases, p.Val282Leu was the most common mutation. CONCLUSIONS: The results underscore the effectiveness of congenital adrenal hyperplasia neonatal screening in the public health system and indicate that the adopted strategy was appropriate. The second sample collection along with genotyping of suspected cases helped to properly diagnose both severe and milder cases and delineate them from false positive patients.
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17-alfa-Hidroxiprogesterona/sangue , Hiperplasia Suprarrenal Congênita/diagnóstico , Triagem Neonatal/métodos , Esteroide 21-Hidroxilase/sangue , Hiperplasia Suprarrenal Congênita/epidemiologia , Hiperplasia Suprarrenal Congênita/genética , Biomarcadores/sangue , Brasil/epidemiologia , Estudos Transversais , Feminino , Genótipo , Humanos , Incidência , Recém-Nascido , Masculino , Mutação , FenótipoRESUMO
Cystic fibrosis newborn screening was implemented in Brazil by the Public Health System in 2012. Because of cost, only 1 mutation was tested - p.Phe508del. We developed a robust low-cost genetic test for screening 11 CFTR gene mutations with potential use in developing countries.
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Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/diagnóstico , Testes Genéticos/métodos , Custos de Cuidados de Saúde , Programas Nacionais de Saúde/economia , Triagem Neonatal/métodos , Brasil , Fibrose Cística/economia , Fibrose Cística/genética , Feminino , Marcadores Genéticos , Testes Genéticos/economia , Humanos , Recém-Nascido , Masculino , Mutação , Triagem Neonatal/economia , Sensibilidade e EspecificidadeRESUMO
BACKGROUND: Bupivacaine is the most used local anesthetic in surgical procedures, producing prolonged anesthesia. The major limiting factor for the clinical use of bupivacaine comes from its systemic toxicity. Nanostructured lipid carriers (NLC) are vehicles for sustained drug delivery that are able to minimize the toxicity and to increase the action time of lipophilic drugs. METHODS: This work reports a 22 factorial design, which elucidates the role of the lipids mixture in the NLC, towards an optimized formulation. It also provides a new method for bupivacaine S75:R25 (BVCS75) quantification in NLC. Moreover, physicochemical stability studies on the prepared NLC formulations were carried out by monitoring particle size, polydispersity, Zeta potential and BVCS75 encapsulation efficiency for 90 days, at 25°C. RESULTS: The factorial design showed that the liquid lipid Capryol 90® has a negative effect over particle size and PDI values while cetyl palmitate presented a positive effect in size. The analytical method was accurate, reproducible, specific and linear over the concentration range of 0.16-54.00 µg.mL-1 BVCS75 with limits of quantification and detection of 0.10 and 0.03 µg.mL-1, respectively. The validated method was used to quantify the BVCS75 encapsulation (55.5 ±2.8 %). Encapsulation did not affect the nanoparticles morphology (confirmed by Transmission Electron Microscopy), but increased their Zeta potential (from -15.7 to -37.0 mV). The NLC physical stability was maintained (particles: size < 170 nm, polydispersity <0.16, and number = 8.85 ±0.11 x 1013 particles.mL-1) during storage. CONCLUSION: These results support further investigations on the use of BVCS75-in-NLC formulation for surgical anesthesia, aiming the development of a potent and less toxic nanostructured lipid carrier formulation for BVCS75.
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Anestésicos Locais/química , Bupivacaína/química , Portadores de Fármacos/química , Nanoestruturas/química , Cromatografia Líquida de Alta Pressão , Desenho de Fármacos , Estabilidade de Medicamentos , Microscopia Eletrônica de Transmissão , Nanoestruturas/ultraestrutura , Palmitatos/química , Polímeros/química , Propilenoglicóis/química , Tensoativos/químicaRESUMO
BACKGROUND: Steroid 21-hydroxylase deficiency due to CYP21A2 gene mutations represents more than 90% of all congenital adrenal hyperplasia cases. This deficiency is screened by measuring levels of 17-hydroxyprogesterone, which may vary, causing false positive or false negative results. In order to assist the diagnosis, molecular methodologies have been employed. This work aimed to perform genotyping assays to detect mutations in the CYP21A2 gene and compare the findings with other population studies. METHODS: The SNaPshot assay was developed to simultaneously detect 12 frequent point mutations in the CYP21A2 gene (p.Arg409Cys, p.Gln319Ter, p.Arg357Trp, p.Leu308PhefsTer6, p.Val237Glu, IVS2-13A/C > G, p.Ile173Asn, p.Pro31Leu, p.Pro454Ser, p.Val282Leu, p.Gly111ValfsTer21 and p.His63Leu). The direct sequencing and multiplex ligation-dependent probe amplification assays were used to confirm point mutations present in the developed method. The latter was also used to search large deletions and gene conversion, complementing the investigation. A total of 166 cases were studied. RESULTS: The SNaPshot assay was successfully developed to detect the 12 mutations. The results of mutation analysis indicated 84 pathogenic alleles in 48 cases, with p.Val282Leu (27.1%) and IVS2-13A/C > G (20.8%) being the most frequently found mutations. Between the findings of this study and those of other South American studies, there were significant differences in frequency for p.Pro31Leu and p.Val282Leu (p < 0.001). A new variant T in IVS2-13A/C > G was identified in two patients via the SNaPshot assay. CONCLUSION: The molecular strategy developed for CYP21A2 gene mutation screening allowed us to detect the principle mutations described around the world. Furthermore, the first Southern Brazilian mutation frequencies concerning the CYP21A2 gene were obtained.
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Hiperplasia Suprarrenal Congênita/genética , Mutação , Técnicas de Amplificação de Ácido Nucleico/métodos , Esteroide 21-Hidroxilase/genética , Hiperplasia Suprarrenal Congênita/diagnóstico , Feminino , Frequência do Gene , Humanos , Lactente , Recém-Nascido , Masculino , Mutação Puntual , Reação em Cadeia da Polimerase/métodosRESUMO
BACKGROUND: Increased destruction of erythrocytes in patients with sickle cell disease results in chronic hyperbilirubinemia and leads to the formation of gallstones. OBJECTIVES: The objective of this study was to determine the combined influence of alpha thalassemia, fetal hemoglobin, and the UGT1A1 polymorphism on serum bilirubin levels and cholelithiasis in patients with sickle cell disease. METHODS: We analyzed 72 patients treated in the outpatient hematology unit of the Clinical Hospital of Porto Alegre. The alpha thalassemia trait was determined by multiplex polymerase chain reaction and the polymorphisms of UGT1A1 by capillary electrophoresis with tagged primers. RESULTS: Total and indirect bilirubin levels differed significantly between genotypes TA7/TA7 and TA6/TA6 (p < 0.05). Bilirubin levels were influenced by the UGT1A1 polymorphism but not by alpha thalassemia and fetal hemoglobin. There was no association between cholelithiasis and any of the variables studied. CONCLUSION: These preliminary findings suggest that the UGT1A1 gene can influence serum bilirubin levels in sickle cell anemia and serve as a tool to differentiate an acute hemolytic condition from a pre-existing condition of hyperbilirubinemia.
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Anemia Falciforme/diagnóstico , Bilirrubina/sangue , Colelitíase/diagnóstico , Hemoglobina Fetal/genética , Glucuronosiltransferase/genética , Polimorfismo Genético , Talassemia alfa/diagnóstico , Adolescente , Adulto , Anemia Falciforme/sangue , Anemia Falciforme/complicações , Anemia Falciforme/genética , Colelitíase/sangue , Colelitíase/complicações , Colelitíase/genética , Feminino , Hemoglobina Fetal/metabolismo , Expressão Gênica , Genótipo , Glucuronosiltransferase/sangue , Humanos , Masculino , Pessoa de Meia-Idade , Regiões Promotoras Genéticas , Talassemia alfa/sangue , Talassemia alfa/complicações , Talassemia alfa/genéticaRESUMO
Laboratory animals are still necessary in scientific investigation and vaccine testing, but while novel methodological approaches are not available for their replacement, the search for new, humane, easy, and painless methods is necessary to diminish their stress and pain. When multiple blood samples are to be collected from hamsters and guinea pigs, the number of available venipuncture sites-which are greatly diminished in these species in comparison with other rodents due to the absence of a long tail-, harasses animal caregivers and researchers. Thus, this study aimed to evaluate if gingival vein puncture could be used as an additional route to obtain multiple blood samples from anesthetized hamsters and guinea pigs in such a way that animal behavior, well-being or hematological parameters would not be altered. Thus, twelve anesthetized Syrian golden hamsters and English guinea pigs were randomly allocated in two groups: a control group, whose blood samples were not collected, and an experimental group in which blood samples (200 microliters) were collected by gingival vein puncture at weekly intervals over six weeks. Clinical assessment, body weight gain and complete blood cell count were evaluated weekly, and control and experimental animals were euthanized at week seven, when the mentolabial region was processed to histological analyses. Multiple blood sampling from the gingival vein evoked no clinical manifestations or alteration in the behavioral repertoire, nor a statistically significant difference in weight gain in both species. Guinea pigs showed no alteration in red blood cell, leukocyte or platelet parameters over time. Hamsters developed a characteristic pattern of age-related physiological changes, which were considered normal. Histological analyses showed no difference in morphological structures in the interdental gingiva, confirming that multiple blood sampling is barely traumatic. Thus, these results evidence that blood collection from multiple gingival vein puncture is minimally invasive and traumatic to hamsters and guinea pigs, and that it can be accomplished during at least six weeks.
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Gengiva/irrigação sanguínea , Flebotomia/métodos , Animais , Animais de Laboratório , Contagem de Células Sanguíneas , Cricetinae , Feminino , Cobaias , Masculino , Distribuição Aleatória , VeiasRESUMO
Background: Tyrosine kinase inhibitors (TKIs) were the first drugs to use an intracellular signaling molecule as a therapeutic target. Unresponsiveness to TKIs limits therapeutic options, making allogeneic hematopoietic stem cell transplantation (HSCT) the only option leading to molecular remission. The aim of this study is to characterize CML patients unresponsive to first- and/or second-generation TKI therapy who underwent HSCT and to describe the main factors associated with treatment failure. Subjects and Methods: Twenty one CML patients who underwent allogeneic HSCT and had previously used first- and/or second-generation TKIs from January 2005 to May 2014. Results: Of the 21 patients, 52.4% were male, with a median age of 49 years (23-65 years) and 85.7% had chronic phase CML at the time of diagnosis; 28.6% showed inadequate treatment adherence to TKI therapy. Thirteen patients were resistant and eight were intolerant to TKIs; additionally, nine did not have T315I mutation. Ten transplantations involved related donors, and more than a half of patients (11) died, three of which due to graft failure. Most patients who survived transplantation were in the chronic phase of disease at the time of HSCT. Conclusion: The population was composed mainly of young age patients at diagnosis, male, white, and coming from areas in the state of Rio Grande do Sul other than Porto Alegre and metropolitan region. Low adherence to TKI therapy may be related to unresponsiveness to treatment, especially in patients with acquired resistance, or this low adherence, together with the presence of molecular changes, may have led to the need for HSCT.
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BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with accumulation of 17 hydroxyprogesterone (17-OHP). Early diagnosis of CAH based on newborn screening is possible before the development of symptoms and allows proper treatment, correct sex assignment, and reduced mortality rates. This study describes the results obtained in the first year of a public CAH screening program in the state of Rio Grande do Sul, Brazil. METHODS: We reviewed the screening database in search of babies with suspected CAH, that is, altered birth-weight adjusted 17-OHP values at screening. The following data were analyzed for this population: screening 17-OHP values, retest 17-OHP values, serum 17-OHP values for those with confirmed CAH on retest, maternal and newborn data, and family history of CAH. For the screening program, 17-OHP levels are determined on dried blood spots obtained in filter paper with GSP solid phase time-resolved immunofluorescence. RESULTS: Of 108,409 newborns screened, eight were diagnosed with CAH (four males, four females). The incidence of CAH in the state was 1:13,551. Six cases were identified as classic salt-wasting CAH and two were cases of virilizing CAH. The positive predictive value (PPV) of the initial screening (before diagnostic confirmation) was 1.6%. The overall rate of false positive results was 0.47%. The number of false positive results was higher among newborns with birth weight < 2000 g. CONCLUSION: The present results support the need for CAH screening by the public health care system in the state, and show that the strategy adopted is adequate. PPV and false positive results were similar to those reported for other states of Brazil with similar ethnic backgrounds.
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Hiperplasia Suprarrenal Congênita/diagnóstico , Triagem Neonatal , 17-alfa-Hidroxiprogesterona/sangue , Hiperplasia Suprarrenal Congênita/sangue , Hiperplasia Suprarrenal Congênita/epidemiologia , Biomarcadores/sangue , Brasil/epidemiologia , Diagnóstico Precoce , Reações Falso-Positivas , Feminino , Humanos , Incidência , Recém-Nascido , Masculino , Triagem Neonatal/métodos , Valor Preditivo dos Testes , Estudos RetrospectivosRESUMO
BACKGROUND: Type 2 diabetes mellitus is the most common metabolic disorder and has considerable impact on quality of life. Treatment of DM2 is complex and adherence to treatment requires sophisticated cognition which includes literacy skills. METHODS: Health literacy skills of a cross-sectional nonrandom sample of 164 DM2 outpatients at the Diabetes Unit of the Hospital Universitário Pedro Ernesto at the State University of Rio de Janeiro were evaluated by the short version of the Test of Functional Health Literacy in Adults (s-TOFHLA). Procedures available in the SPSS package were used in data analysis. RESULTS: Fourteen out of 164 patients (8.5%) were completely illiterate and therefore were not further assessed. The remaining 150 patients (75 men and 75 women) were the participants of this study. Data showed that 110 (73.3%) participants had adequate health literacy skills, 17 (11.3%) had marginal skills and 23 (15.3%) had inadequate skills. Moreover, older participants performed worse than younger patients. In addition, Caucasian and multiethnic participants performed better than Afro-Brazilians. Furthermore, participants with higher educational and occupational levels outperformed those with lower levels. However, only age and education, but not ethnic group and occupation, contributed significantly and independently to health literacy. CONCLUSION: This study showed that almost a quarter of the participants are illiterate or have inadequate health literacy skills. Therefore, our results indicate the need for the development of health care instructions properly calibrated to the health literacy skills of DM2 patients.
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BACKGROUND: Jaundice is a physiological phenomenon; however, severe hyperbilirubinemia occurs in only 5 to 6% of the healthy newborn population. It has been suggested that genetic variation could enhance the risk of hyperbilirubinemia when coexpressed with other icterogenic conditions. METHODS: The study included newborns with a gestational age of greater than 35 wk and weights greater than 2,000 g with indications for phototherapy. The polymorphisms from UGT1A1 (rs8175347), SLCO1B1 (rs4149056 and rs2306283), and SLCO1B3 (rs17680137 and rs2117032) were analyzed by capillary electrophoresis and hydrolysis probes. RESULTS: A total of 167 hyperbilirubinemic infants and 247 control subjects were enrolled. The gender, ABO incompatibility, birth weight, and gestational age differed between the groups, but the allelic and genotypic frequency of the polymorphisms from SLCO1B genes did not. In logistic regression, the ABO incompatibility, gestational age, and polymorphic T allele of rs2117032 remained in the model. The presence of this polymorphism seemed to provide protection from hyperbilirubinemia. The individuals who were homozygous for the G allele of rs2306283 and who were glucose 6-phosphate-dehydrogenase deficient were more frequent among the cases. CONCLUSION: Although genetic variation accounts for a good part of this condition, the association between different polymorphisms and environmental factors has yet to be explained.
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Predisposição Genética para Doença/genética , Glucuronosiltransferase/genética , Hiperbilirrubinemia Neonatal/genética , Transportadores de Ânions Orgânicos Sódio-Independentes/genética , Transportadores de Ânions Orgânicos/genética , Polimorfismo Genético/genética , Teorema de Bayes , Bilirrubina/sangue , Estudos de Casos e Controles , Eletroforese Capilar , Feminino , Frequência do Gene , Idade Gestacional , Humanos , Hidrólise , Recém-Nascido , Transportador 1 de Ânion Orgânico Específico do Fígado , Modelos Logísticos , Masculino , Razão de Chances , Fatores Sexuais , Membro 1B3 da Família de Transportadores de Ânion Orgânico Carreador de SolutoRESUMO
The aim of the work was to determine the variation of UGT1A1 genotypes in patients with hemolytic anemia in the southern Brazil. Three hundred twenty-three patients with hemolytic anemia were genotyped for UGT1A1 along with 232 controls. Allelic and genotypic distribution did not differ among studied groups. The TA7/TA7 genotype presented a frequency that ranged from 3.2% to 18.0% (nonsignificant). Alleles TA5 and TA8 were also found in the sample, even though southern Brazil is a major Caucasoid region. Genotype prevalence was very similar to those of African origins, reflecting the diversity of ethnic origins and the high degree of admixture in southern Brazil. Further studies should be conducted to correlate the modulating role of UGT1A1 polymorphism with the clinical conditions of each patient with hemolytic anemia.
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Anemia Hemolítica/genética , Glucuronosiltransferase/genética , Polimorfismo Genético , Anemia Hemolítica/epidemiologia , Brasil , Frequência do Gene , Genótipo , Humanos , PrevalênciaRESUMO
AIM: The aim of this study was to estimate the prevalence of hemoglobinopathies in South Brazil. METHODS: Samples of dried blood spots collected by heel prick in neonates were evaluated by isoeletric focusing and/or high-performance liquid chromatography techniques. All variants were characterized at the molecular level. RESULTS: A total of 437,787 samples were evaluated. Among these, 6391 showed an abnormal hemoglobin pattern. These included 48 cases (0.01%) of sickle cell disorders (33 hemoglobin SS [Hb SS], 7 Hb SC, 7 Hb S/beta thalassemia, 1 Hb SD), 1 neonate who was homozygous for beta thalassemia, 6272 (1.4%) newborns who were heterozygous for Hb S, C, or D, and 71 (0.02%) neonates who were carriers for rare hemoglobin variants. Most of these rare variants were identified for the first time in Brazil. CONCLUSIONS: Comparing these results with those obtained in other Brazilian regions, we observe a highly heterogeneous distribution. This knowledge is useful in healthcare planning and allocation of resources, as well as identifying at-risk couples, which will assist with disease prevention.
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Hemoglobinopatias/diagnóstico , Triagem Neonatal/métodos , Brasil , Análise Mutacional de DNA , Frequência do Gene , Geografia , Recursos em Saúde/economia , Recursos em Saúde/provisão & distribuição , Hemoglobinopatias/genética , Humanos , Lactente , Recém-Nascido , Avaliação de Programas e Projetos de Saúde , Saúde Pública/economia , Globinas beta/análise , Globinas beta/genéticaRESUMO
Alpha thalassemia has not been systematically investigated in Brazil. In this study, 493 unrelated individuals from the southernmost Brazilian state of Rio Grande do Sul were screened for deletional forms of α-thalassemia. One hundred and one individuals had microcytic anemia (MCV < 80 fL) and a normal hemoglobin pattern (Hb A (2) < 3.5% and Hb F < 1%). The subjects were screened for - α(3.7) , - α(4.2) , - α(20.5) , - (SEA) and - (MED) deletions but only the - α(3.7) allele was detected. The - α(3.7) allele frequency in Brazilians of European and African ancestry was 0.02 and 0.12, respectively, whereas in individuals with microcytosis the frequency was 0.20. The prevalence of α-thalassemia was significantly higher in individuals with microcytosis than in healthy individuals (p = 0.001), regardless of their ethnic origin. There were also significant differences in the hematological parameters of individuals with - α(3.7) / αα, - α(3.7) /- α(3.7) and ß-thalassemia trait compared to healthy subjects. These data suggest that α-thalassemia is an important cause of microcytosis and mild anemia in Brazilians.
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BACKGROUND: Automated hematological analyzers have contributed to more precise and faster results. They also make it possible to measure several blood cell parameters automatically. Among the parameters provided, platelet indices are probably the most ignored by clinical laboratories due to the difficulty of standardization, as well as being affected by a range of methodological problems. It has been suggested that each laboratory determines its own reference intervals with the equipment used. METHODS: Our goal was to determine the reference range of platelet distribution width (PDW) in venous blood samples from 231 patients using the Pentra 120 ABX hematology analyzer. RESULTS: The PDW median was 13.3%, with a reference range of 10.0%-17.9% for the 5th-95th percentiles, with a confidence interval of 95%. CONCLUSIONS: Among all indices, the PDW has been receiving attention due to its usefulness for distinguishing between reactive thrombocytosis and thrombocytosis associated with myeloproliferative disorder. Determination of the PDW reference range is fundamental, and the association of this parameter with the platelet number and mean platelet volume may be used for the diagnosis and differentiation of several pathologies.
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Plaquetas/citologia , Hematologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Hematologia/instrumentação , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos Mieloproliferativos/sangue , Transtornos Mieloproliferativos/diagnóstico , Contagem de Plaquetas/instrumentação , Contagem de Plaquetas/normas , Valores de Referência , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Trombocitose/sangue , Trombocitose/diagnóstico , Adulto JovemRESUMO
We have evaluated the mutation profile in a sample of 127 unrelated beta-thalassemia (beta thal) individuals, diagnosed through A2 and fetal hemoglobin quantification by high-performance liquid chromatography (HPLC) from the Brazilian southernmost state, where a flow of Italian immigrants had occurred in the late 19th century, mainly from Northern Italy. The molecular analysis was performed by DNA sequencing of the most common mutations found in the Mediterranean region. The beta 0 codon 39 nonsense mutation was the most frequent alteration (50.9%), followed by beta+ IVSI 110 G>A (18.1%), beta 0 IVSI 1 G>A (12.9%), beta+ IVSI 6 T>C (9.5%), and other rare mutations (8.6%). The chosen gene sequence was able to identify 91% beta-thal mutations in the population studied, showing some similarity with allele frequencies of the mainly colonizing countries of Rio Grande do Sul state. The comparison of our results to other Brazilian studies has shown significant differences. Therefore, we can conclude that the genotypic profile of beta-thal shows great variability. Hence, it would be arbitrary to infer regional study results as being representative of the Brazilian whole population. Brazilian researchers of different regions should identify their most frequent genotypes to provide better understanding on this disease and state adequate public health policies.