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- Biomarker of Chronic Alcohol Abuse – Carbohydrate-deficient Transferrin (CDT): Methodology VerificationPublication . Gomes, Filomena; Costa, Alcina; Fernandes, Lília; Silva, Ana Maria V. da; Vasconcelos, Miguel; Miranda, ArmandinaIntroduction: Transferrin is a glycoprotein synthesized in hepatocytes that can appear with different isomorphic forms in the plasma, acquiring different levels of sialization (1,2). In a healthy person, penta, tetra and trisial isoforms are detectible in plasma. However, in an alcohol abuse and/or dependence, asialo, monosialo and disialotransferrin isoforms are also present called carbohydrate-deficient transferrin (CDT) (3) . This is considered a specific biomarker of alcohol abusive and/or dependence, being useful in the diagnosis and monitoring of this pathology (4) . Aim: Verify compliance with the requirements of the manufacturer of the capillary electrophoresis method in laboratory practice and its suitability in determining the CDT. Materials and methods: The MiniCap System (Sebia) was used with calibrators traceable to the IFCC international reference procedure and normal and pathological internal control samples. Repeatability and intermediate precision tests were performed on control samples. From participation in External Quality Assessment (EQA) program (5 rounds - 2 samples each), Bias%, Deviation Index (DI) and Total Laboratory Error (TELab) were obtained. The Measurement Uncertainty was calculated by the Top Down Method (combined and expanded with a factor of 1.96), using the internal (CV%) and external (Bias%) quality control results. Results: In the repeatability tests, normal control samples (n=22, mean = 1.4%) were obtained, CV = 5.7%; for the pathological sample (n=24, mean = 5.4%), CV = 2.2%. In intermediate precision tests for the normal control sample, (n= 12, mean = 1.4%), CV = 6.7%; for the pathological sample (n=12, mean = 5.3%), CV = 4.9%. In samples from EQA program, mean Bias = -1.0% and TELab = 11.5. In the evaluation of the method by DI, 1 satisfactory, 7 good and 2 excellent results were obtained. The obtained Expanded Uncertainty (1.3% ± 0.3) is consistent with that indicated by the manufacturer. Conclusion: The TELab obtained meets Westgard`s desirable specifications (5) , being considered an appropriate methodology for use in laboratory practise for diagnosis. However, it is considered important to monitor the method with Internal Control samples, and participate in EQA programs, as well as periodic evaluation of Quality Indicators.
- Avaliação de diferenças bioquímicas entre indivíduos diabéticos com e sem variantes patogénicas causadores de MODY. (PO 47)Publication . Vaz, Margarida; Gaspar, Gisela; Agapito, Ana; Neves, Ana Carolina; Bogalho, Ana Paula; Almeida, Bruno; Pereira, Carla; Fonseca, Fernando; Lobarinhas, Goreti; Luiz, Henrique Vara; Duarte, João Sequeira; Sampaio, Maria de Lurdes; Dario, Paulo; Bourbon, MafaldaA diabetes tipo MODY (Maturity-onset diabetes of the young) é um tipo de diabetes causada por mutações em um único gene. Existe 14 genes associados a essa doença, no entanto, a maioria dos casos de MODY é causada por alterações nos genes GCK, HNF1A, HNF1B e HNF4A. Cada subtipo desta patologia apresenta características fenotípicas, metabólicas e complicações para a saúde distintas o que exige uma adequação terapêutica diferente. Contudo a grane maioria dos casos de MODY é erroneamente diagnosticada como diabetes tipo 1 ou tipo 2, o que prejudica o diagnóstico do doente. O objetivo deste trabalho consiste na caracterização bioquímica dos participantes do Estudo Molecular de diabetes tipo MODY com base nos valores de glicémia e hemoglobina A1c inicial, indicados nos inquéritos do estudo, pelos médicos que os referenciaram, para perceber se estes valores são ou não um bom indicador de diabetes tipo MODY. Para tal foram analisados os valores de 76 participantes do estudo, com e sem mutação. Para análise estatística dos valores utilizou-se o Rstudio. Com os testes de Shapiro e Wilcox para avaliou-se e distribuição das amostras, bem como as diferenças entre os dois grupos. Os resultados desta análises não revelaram diferença estatística significativa (valor p=0.5) entre os valores de glicémia inicial dos participantes do estudo com mutação e sem mutação, nem com os valores de hemoglobina A1c (valor p= 0.19). Os resultados apresentados sustentam o argumento de que não é possível identificar corretamente pacientes com diabetes tipo MODY apenas com base nos resultados bioquímicos da glicémia e da hemoglobina A1c e que o diagnóstico genético é essencial para que o conceito de medicina personalizada seja uma realidade acessível aos pacientes diabéticos em Portugal.
- Ancestry of the major long-range regulatory site of the α-globin genes in the Portuguese population with the common 3.7kb α-thalassemia deletionPublication . Pena, Rita; Lopes, Pedro; Gaspar, Gisela; Miranda, Armandina; Faustino, PaulaThe α-major regulatory element (known as HS-40) has a crucial role in the long-range regulation of the α-globin gene expression. This element is genetically polymorphic and six haplotypes (A to F) have been identified in different populations, with haplotype D almost exclusively found in African populations. This study aimed to identify the HS-40 haplotype associated with the common 3.7kb α-thalassemia deletion (-α3.7del) in the Portuguese population, and investigate its ancestry. We searched for the -α3.7del in 111 selected Portuguese individuals by Gap-PCR. In addition, a DNA fragment containing the HS-40 was amplified by PCR and Sanger sequenced. Statistical analysis was performed using R software. Fifty individuals have the wild-type α-globin genotype (group I), 34 are heterozygous for the -α3.7del (group II) and 27 are homozygous (group III). Regarding the HS-40, four haplotypes were found (A to D). The distribution of HS-40 haplotypes and genotypes are significantly different between groups with and without the -α3.7del (p<0.001), being haplotype D and genotype AD the most prevalent in group III. Furthermore, multiple correspondence analysis revealed that individuals without the -α3.7del are grouped with other European populations, while samples with the -α3.7del are split from these and found more related to the African population. This study revealed for the first time an association of a specific HS-40 haplotype with the -α3.7del in the Portuguese population, and its likely African ancestry. These results may have a clinical importance as in vitro analysis of haplotype D showed a descrease in its enhancer activity on α-globin genes.
- Next Generation Sequencing – a key tool for diagnosis of Familial DyslipidemiasPublication . Miranda, B.; Alves, A.C.; Bourbon, M.Dyslipidemia, a clinical condition defined by abnormal lipid concentrations in blood, can have a genetic etiology. Familial dyslipidemias are a group of genetic diseases, the majority being rare, associated with several serious conditions. Raised triglyceride levels are associated with pancreatic/hepatic complications. Elevated cholesterol levels promote atherosclerosis and increase patients' cardiovascular risk, and low levels of this particle are associated with neurological manifestations and poor weight progression. Nowadays, with the advance in genome sequencing technologies, the investigation and diagnosis of these disorders is expanding
- Deletional alpha-thalassemia and hematological phenotype: predictive parameters of different deletionsPublication . Gaspar, Gisela; Ramalho, Rita de Mira; Seuanes, Filomena; Feliciano, Carla; Duarte, Guida; Copeto, Sandra; Costa, Alcina; Santos, João Xavier; Miranda, ArmandinaIntroduction: Thalassemias are characterized by a quantitative imbalance of the globin chains due to the reduction or suppression of the synthesis of one of the globin chains.The hematological tests usually used as indicative for the investigation of α-thalassemia are the blood count with MCV (Mean Cell Volume) < 80 fL and/or MCH (Mean Cell Hemoglobin) < 27 pg and normal Hb A2 (< 3.5%). Aim: This study aimed to correlate the different deletional α-thalassemia genetic alterations with the corresponding hematological phenotype, based on casuistry from 2015 to 2019. Methodology: Was evaluated retrospectively 496 cases suspected of deletional α-thalassemia from 2015 to 2019 and correlated them with the hematological data available. We searched for α-thalassemia deletions by Gap-PCR and Multiplex Gap-PCR. Haematological evaluation was carried out by the erythrogram, Hb isoelectric focusing and quantification of Hb A2 and Hb F (Ion exchange high performance liquid chromatography). The statistical analysis of the results was carried out through calculating the mean, standard deviation, median, and t-Student test, with a significance level of 0.05. Results and discussion: Most patients (n=190) had a normal genotype (αα/αα), followed by heterozygosity (-α3.7/αα) (n=148) and homozygosity (-α3.7/α3.7) (n=141) for the 3.7kb deletion. We also detected 5 cases of heterozygosity for the 4.2Kb deletion (-α4.2/αα), 4 of double heterozygosity (α3.7/α4.2), 7 heterozygosity α0 (--SEA /αα) and 1 of HbH (--SEA/-α3.7). The results showed that the MCV and the MCH are excellent hematological indices for screening and selection of patients for molecular testing (their value being the lower the greater the number of deleted genes). Our results are in line with those described in the literature and reinforce that the cut-off value of 25 pg (MCH) is sensitive enough to infer the presence of α0 -thalassemia deletion. The detection of the α0 deletion is very important in preventing the occurrence of Hb Bart's in the offspring of a carrier couple. The diagnosis of deletional α-thalassemia is realised by genetic testing, however hematological indices are relevant predictive markers of the number of deleted alpha genes and the phenotype /genotype correlation.
- Portuguese Familial Hypercholesterolemia Study as the basis of APOB Variants DatabasePublication . Ferreira, M.; Chora, J.R.; Medeiros, A.M.; Bourbon, M.; Alves, A.C.Familial hypercholesterolemia (FH) is na autosomal semi dominant disorder of lipid metabolismo associated with increased cardiovascular risk. The genetic diagnosis of FH is usually based on the analysis of three main genes: LDLR, APOB, and PCSK9. APOB variants are responsible for about 5%-10% of FH cases and in the last years, the whole gene has been sequenced due to next generation sequencing (NGS), increasing the variant spectrum of APOB.
- Healthcare professionals’ psychological distress, risk and protective mental health factors after two years of COVID-19 pandemic in PortugalPublication . Costa, Alexandra; Almeida, Teresa Caldas de; Fialho, Mónica; Rasga, Célia; Martiniano, Hugo; Santos, Osvaldo; Virgolino, Ana; Vicente, Astrid; Heitor, Maria JoãoThe COVID-19 pandemic increased psychosocial riskfactors among healthcare professionals (HCP). The main objective was to characterize Portuguese HCP’s mental health (MH) outcomes, estimating the percentage of symptoms of anxiety, depression, post-traumatic stress disorder (PTSD) and burnout, and identifying risk and protective factors.
- Delta Beta (δβ) thalassemia: Learning from External Quality AssessmentPublication . Miranda, Armandina; Correia, Helena; Reis, Ana; Miranda, Ana; Silva, Susana Pereira; Seuanes, Filomena; Meireles, Flora; Azevedo, Ana Paula; Faria, Ana PaulaIntroduction: External Quality Assessment Programs (EQA) evaluate retrospectively the laboratory results, assessing their performance and competence. They play a key role in the continuous training process of the professionals, contributing not only for precise and accurate results, but also to a correct interpretation. δβ thalassemia results from a deletion in genes delta and beta of chromosome 11. Although its definitive identification demands genetic analysis, the hematologic evaluation allows the presumptive identification. The hematologic phenotype of heterozygotes for δβ-thalassemia is identic to β-thalassemia carrier, with microcytosis and hypochromia where the percentage of HbA2 is not increased and Hb F is usually high, varying from 5 to 20%. In 2018, the National External Quality Assessment Program (PNAEQ), sent a sample that simulated a carrier of delta beta (δβ) thalassemia, in order to evaluate the performance of the participants registered in the Hemoglobinopathies Program. Objective: Evaluate the performance of PNAEQ’s participants in the quantification of HbA2 and HbF, and interpretation of results of a sample that simulated an δβ-thalassemia carrier.
- Avaliação clínica da resposta ao tratamento com Hidroxiureia em crianças com Anemia de Células Falciformes em AngolaPublication . Santos, Brígida; Miranda, Armandina; Ginete, Catarina; Arez, Ana Paula; Faustino, Paula; Brito, MiguelIntrodução: A Anemia de Células Falciformes (ACF) é uma doença genética causada por uma mutação na cadeia beta globina da hemoglobina, dando origem à hemoglobina S. É caracterizada por fenómenos vaso-oclusivos e hemólise crónica. A hemoglobina fetal (HbF) é o modificador central da doença e é passível de manipulação terapêutica. A Hidroxiureia (HU) é o único fármaco aprovado para indução de HbF em pacientes com ACF. Contudo, alguns estudos mostraram que as respostas individuais ao tratamento com HU são muito variáveis. O objectivo deste estudo é a avaliação da eficácia do tratamento com HU em crianças angolanas com ACF. Será feita a apresentação preliminar de dadosde 6 meses de tratamento com HU.Métodos: O estudo incluiu143 crianças dos 3 aos 12 anos de idade, com o diagnóstico de ACF medicadas com HU na dose de 20mg/kg/dia. O seguimento clínico foi feito mensalmente e incluiu o registo de intercorrências, exame físico, avaliação hematológica e dos parâmetros bioquímicos para estudo da hemólise e da toxicidade atribuída à HU. A HbF foi quantificada em estado basal e ao 6⁰ mês de tratamento. Resultados: Comparativamente à fase antes do tratamento e a avaliação feita ao 6⁰ mês de tratamento houve redução de: (1) frequência de episódios de crises dolorosas (59 vs 25), (2) número de transfusões (16 vs 4), (3) número de internamentos (12 vs 3). Uma criança teve recorrência de AVC no 2⁰mês e outra teve necrose asséptica da cabeça do fémur ao 5⁰mês de tratamento. O valor médio da hemoglobina (g/dl) variou de 7,5 para 8,1 (valor mínimo 5,2 e máximo 10,1 vs valor mínimo 5,8 e máximo 10,7). Em 56,1% dos pacientes houve aumento da HbF com valores médios de 5,7% emestado basal e 12,4% ao 6⁰mês de tratamento. Contudo em 12,9% dos pacientes não houve variação da % da HbF e em 30,9% das crianças o aumento da HbF foi inferior a 3% do valor da HbF basal.Na análise dos parâmetros de hemólise o valor percentual médiodos reticulócitosdecresceu de 10,1 para 6,57%, a bilirrubina indirecta (mg/dl) variou de 1,19 para 0,52. A desidrogenase láctea (U/L) não teve variação nos valores médios embora o valor máximo tenha decrescidode 1230 para 1067 e o valor mínimo de 115,1 para 106,3U/L. Não foram registados efeitos secundários importantes relacionados à HU.Conclusão: A HU teve eficácia clínica na maioria dos pacientes evidenciada pelos parâmetros clínicos e laboratoriais. Para além disso, foi demonstrada variabilidade na resposta à terapêutica pelo que está em curso a identificação de polimorfismos associados a essa variabilidade.
- Six Sigma methodology to evaluate and improve the results of three parameters of clinical chemistry evaluation quality assessmentPublication . Alberto, Ana Patrícia; Correia, Helena; Constantino, Vicente; Miranda, Armandina; Faria, Ana Paula; Gomes Requeijo, JoséFrom the PNAEQ’s Clinical Chemistry Program, three analytes were chosen to evaluate the quality assessment Total Cholesterol, LDL Cholesterol and Triglycerides Results from 2018 to 2020 were studied in order to evaluate and develop actions that allow the participants to reduce the variability of the results and improve their Sigma quality level in order to provide a better service to the patients.