36 documents found, page 1 of 4
Sickle cell trait in São Tomé e Príncipe: a population-based prevalence study i...
Queiroz, Guilherme; Monteiro, Celdidy; Manco, Licínio; Relvas, Luís; Trovoada, Maria de Jesus; Leite, Andreia; Bento, CelesteBackground Sickle Cell Disorder is Africa’s most prevalent genetic disease. Yet, it remains a neglected condition, with high mortality under-five, and a lack of population-based studies in the region. This is the first of its kind in São Tomé e Príncipe, aiming to estimate the prevalence of sickle cell trait and other haemoglobin variants in women of reproductive age and its associated factors. Methods: We cond...
Next-generation sequencing of 12 obesity genes in a Portuguese cohort of patien...
Manco, Licínio; Pereira, Janet; Fidalgo, Teresa; Cunha, Marina; Pinto-Gouveia, José; Padez, Cristina; Palmeira, LaraWe examined 12 monogenic obesity genes in 72 Portuguese individuals with overweight and obesity (class 1 and class 2), some of which with suspected genetic obesity, to identify known or unknown potential obesity variants. Genomic DNA was analyzed for variants in genes LEP, LEPR, MC4R, POMC, PCSK1, BDNF, NTRK2, SIM1, SH2B1, UCP3, GCG and ADCY3 through next generation sequencing (NGS). The impact of the rare vari...
Challenges and (Un)Certainties for DNAm Age Estimation in Future
Correia Dias, Helena; Cunha, E; Corte Real, F.; Manco, LicínioAge estimation is a paramount issue in criminal, anthropological, and forensic research. Because of this, several areas of research have focused on the establishment of new approaches for age prediction, including bimolecular and anthropological methods. In recent years, DNA methylation (DNAm) has arisen as one of the hottest topics in the field. Many studies have developed age- prediction models (APMs) based o...
Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency ...
Manco, Licínio; Bento, Celeste; Relvas, Luís; Maia, Tabita; Ribeiro, Maria LetíciaIntroduction: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme defect in the world, affecting more than 500 million people. In Portugal, the average frequency of G6PD deficiency in males was estimated at about 0.5% and since the year 2000 several G6PD-deficient alleles have been identified. The main goal of this study was to improve the knowledge on the molecular heterogeneity of G6...
Vigorous physical activity: a potential ally in adolescent obesity management
Videira-Silva, Antonio; Manco, Licínio; Sardinha, Luís B.; Fonseca, HelenaIndividual variability may contribute to the modest and inconsistent results reported in obesity-management interventions. This study aimed to investigate the impact of non-modifiable as well as modifiable factors on body mass index (BMI) and body fat variance in adolescents with obesity followed in a clinical obesity-management programme, in order to better understand individual variability. Non-modifiable fac...
A Blood–bone–tooth model for age prediction in forensic contexts
Correia Dias, Helena; Manco, Licínio; Corte Real, F.; Cunha, EThe development of age prediction models (APMs) focusing on DNA methylation (DNAm) levels has revolutionized the forensic age estimation field. Meanwhile, the predictive ability of multi-tissue models with similar high accuracy needs to be explored. This study aimed to build multi-tissue APMs combining blood, bones and tooth samples, herein named blood–bone–tooth-APM (BBT-APM), using two different methodologies...
A Blood-Bone-Tooth Model for Age Prediction in Forensic Contexts
Dias, Helena Correia; Manco, Licínio; Corte Real, Francisco; Cunha, EugéniaThe development of age prediction models (APMs) focusing on DNA methylation (DNAm) levels has revolutionized the forensic age estimation field. Meanwhile, the predictive ability of multi-tissue models with similar high accuracy needs to be explored. This study aimed to build multi-tissue APMs combining blood, bones and tooth samples, herein named blood-bone-tooth-APM (BBT-APM), using two different methodologies...
Association study of variants in genes FTO, SLC6A4, DRD2, BDNF and GHRL with Bi...
Cunha, Marina; Padez, Cristina; Alvarez, Manuela; Pinto-Gouveia, José; Manco, Licínio; Palmeira, LaraA population based case-control study was conducted in Portuguese women with overweight/obesity to investigate the possible association of variants in genes FTO, SLC6A4, DRD2, BDNF and GHRL with binge eating disorder (BED). The distribution of seven polymorphisms was evaluated in 31 BED patients and 62 controls. No significant associations were found between polymorphisms and BED. Of interest, a markedly lower ...
The population genomics of archaeological transition in west Iberia: Investigat...
Martiniano, Rui; Cassidy, Lara M.; Ó'Maoldúin, Ros; McLaughlin, Russell; Silva, Nuno; Manco, Licínio; Fidalgo, Daniel; Pereira, Tânia; Coelho, Maria J.We analyse new genomic data (0.05-2.95x) from 14 ancient individuals from Portugal distributed from the Middle Neolithic (4200-3500 BC) to the Middle Bronze Age (1740-1430 BC) and impute genomewide diploid genotypes in these together with published ancient Eurasians. While discontinuity is evident in the transition to agriculture across the region, sensitive haplotype-based analyses suggest a significant degree...
Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic ...
Fidalgo, Teresa; Martinho, Patrícia; Pinto, Catarina S.; Oliveira, Ana C.; Salvado, Ramon; Borràs, Nina; Coucelo, Margarida; Manco, LicínioBackground: The 2 main forms of thrombotic microangiopathy (TMA) are thrombotic thrombocytopenic purpura (TTP) and atypical hemolytic uremic syndrome (aHUS). Deficiency of ADAMTS13 and dysregulation of the complement pathway result in TTP and aHUS, respectively; however, overlap of their clinical characteristics makes differential diagnosis challenging. Objectives and Methods: We aimed to develop a TMA diagnosi...