Evaluation of mathematical indices as tools for distinguishing β-thalassemia trait from iron deficiency anemia in Portuguese females with microcytic anemia

Microcytic anemia is a common condition frequently caused by iron deficiency anemia (IDA) or β-thalassemia trait (BTT). Some mathematical indices have been described as fast and inexpensive tools for distinguishing these two conditions. This approach is very useful in mass screening programs especially in countries with limited resources. This study aimed to evaluate the diagnostic performance of 13 distinct indices: RBC, England&Fraser, Mentzer, Srivastava, Shine&Lal, RDW, Ricerca, Jayabose (RDWI), Green&King (G&K), MDHL, MCHD, Sirdah and Ensani. We investigated 102 adult Portuguese female, presenting anemia (HbA; c.92+6T>C; c.92+110G>A or c.1188C>T) and 51 IDA, being assured that no individual had simultaneously the two conditions. To determine the performance of the indices, sensitivity, specificity, Youden index (YI) and receiver operating characteristic (ROC) curves were calculated. Due to the high values of AUC (Area Under the Curve) from ROC analysis, a cutoff of 0.70 for the YI was established in order to determine the best formulas. We find that the 3 best performing indices to differentiate the 2 groups were RBC (YI=0.71; AUC=0.902), RDWI (YI=0.84; AUC=0.973) and G&K (YI=0.82; AUC=0.972). Our results suggest a similarity with other Mediterranean countries such as Spain and Greece, where G&K and RDWI also performed above our set cutoff. The same is observed in Brazil probably due to its Portuguese ancestry. We conclude that aiming to diagnosis the condition underlying a microcytic anemia in a female population, there is value in using this method to recognize the individuals suspected of BTT and forward them for HbA2 measurement or HBB molecular test. In the future, a robust group of male patients should be added to the analysis in order to extrapolate which of these indices would best apply to the whole adult Portuguese population.This work was partially funded by INSA_2012DGH720 and ISAMBinfo:eu-repo/semantics/publishedVersio

La redención de cautivos entre los musulmanes

Sessió inaugural del curs acadèmic 1928-192

Los mercedarios en la Real Academia de Buenas Letras de Barcelona

Fray Manuel Mariano Ribera; Fray Pedro Nolasco Mora; Fray José Mudarra; Fray Vicente Giralt y Canyadó; Fray Manel Casamada y Comella

Novel mutation in addition to functional TMPRSS6 gene polymorphisms originate an IRIDA-like phenotype in an African child

Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive anemia often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. The disease originates from mutations in TMPRSS6 gene, encoding Matriptase 2, a transmembrane serine protease that plays an essential role in down-regulating hepcidin. Once TMPRSS6 is mutated, the corresponding protein is absent or inactive at the hepatocyte membrane leading to uncontrolled high levels of hepcidin and impaired iron absorption. This study aimed to investigate a 4-year-old boy of sub-Saharan ancestry (Mozambique/Angola), presenting with microcytic hypochromic anemia, low transferrin saturation, normal ferritin, and having a partial response to intravenous iron treatment. He is a -α3.7-thalassemia carrier. TMPRSS6 was screened for variants by Next-Generation Sequencing using Nextera XT libraries in a MiSeq platform (Illumina). Genetic variants found were validated by Sanger sequencing. In silico analyses were performed in HSF, SIFT, Poly-Phen2 and Missense3D softwares. A novel missense mutation (c.871G>A) was found in heterozygosity, in TMPRSS6 exon 8. In silico analysis indicates the conserved amino acid change (G291S) may be damaging to the protein stability. Due to its location in the CUB1 domain, it may also affect the enzyme activation and substrate recognition. Additionally, 3 SNPs previously associated with a greater risk of developing iron deficiency anemia (K253E, V736A and Y739Y) were also identified in TMPRSS6. Although IRIDA is known as an autosomal recessive disease, we conclude that, in this case, the result of a digenic inheritance of the novel damaging mutation (c.871G>A; G291S) and the 3 common modulating SNPs in the same gene and a co-inheritance of the α-thalassemia HBA deletion may lead to an IRIDA-like phenotype. Further functional studies of the mutated protein as well as family studies should be conducted.This work was partially supported by INSA_2013DGH910 and GenomePT (POCI-01-0145-FEDER-022184).info:eu-repo/semantics/publishedVersio

A systematic literature review on DevOps capabilities and areas

Businesses today need to respond to customer needs at an unprecedented speed. Driven by this need for speed, many companies are rushing to the DevOps movement. DevOps, the combination of Development and Operations, is a new way of thinking in the software engineering domain that recently received much attention. Since DevOps has recently been introduced as a new term and novel concept, no common understanding of what it means has yet been achieved. Therefore, the definitions of DevOps often are only partly relevant to the concept. This research presents a systematic literature review to identify the determining factors contributing to the implementation of DevOps, including the main capabilities and areas with which it evolves.info:eu-repo/semantics/acceptedVersio

Entropy in network community as an indicator of language structure in emoji usage: A twitter study across various thematic datasets

This is the author accepted manuscript. The final version is available from the publisher via the DOI in this recordEmojis are emerging as an alternative way to interact and communicate online, and their large-scale adoption has the potential to reveal distinct patterns of human communication and social interactions. In this work, we investigate the hypothesis that emojis are a kind of language. By building networks of emoji co-occurrence, we examine the diversity of the community structure of such networks with regards to predefined categories of emojis. Using four different techniques of community detection, we validate our hypothesis on six Twitter datasets: five from specific topics and one random dataset. Our results demonstrate that the community structure of emojis is more diverse when they are used in non-random topics such as politics and sports, and that Stochastic Block Models appears to extract communities with higher diversity.National Science Foundatio

Trypanosoma cruzi IIc: phylogenetic and phylogeographic insights from sequence and microsatellite analysis and potential impact on emergent Chagas disease.

Trypanosoma cruzi, the etiological agent of Chagas disease, is highly genetically diverse. Numerous lines of evidence point to the existence of six stable genetic lineages or DTUs: TcI, TcIIa, TcIIb, TcIIc, TcIId, and TcIIe. Molecular dating suggests that T. cruzi is likely to have been an endemic infection of neotropical mammalian fauna for many millions of years. Here we have applied a panel of 49 polymorphic microsatellite markers developed from the online T. cruzi genome to document genetic diversity among 53 isolates belonging to TcIIc, a lineage so far recorded almost exclusively in silvatic transmission cycles but increasingly a potential source of human infection. These data are complemented by parallel analysis of sequence variation in a fragment of the glucose-6-phosphate isomerase gene. New isolates confirm that TcIIc is associated with terrestrial transmission cycles and armadillo reservoir hosts, and demonstrate that TcIIc is far more widespread than previously thought, with a distribution at least from Western Venezuela to the Argentine Chaco. We show that TcIIc is truly a discrete T. cruzi lineage, that it could have an ancient origin and that diversity occurs within the terrestrial niche independently of the host species. We also show that spatial structure among TcIIc isolates from its principal host, the armadillo Dasypus novemcinctus, is greater than that among TcI from Didelphis spp. opossums and link this observation to differences in ecology of their respective niches. Homozygosity in TcIIc populations and some linkage indices indicate the possibility of recombination but cannot yet be effectively discriminated from a high genome-wide frequency of gene conversion. Finally, we suggest that the derived TcIIc population genetic data have a vital role in determining the origin of the epidemiologically important hybrid lineages TcIId and TcIIe

An IT service management literature review: Challenges, benefits, opportunities and implementation practices

Information technology (IT) service management is considered a collection of frameworks that support organizations managing services. The implementation of these kinds of frameworks is constantly increasing in the IT service provider domain. The main objective is to define and manage IT services through its life cycle. However, from observing the literature, scarcely any research exists describing the main concepts of ITSM. Many organizations still struggle in several contexts in this domain, mainly during implementation. This research aims to develop a reference study detailing the main concepts related with ITSM. Thus, a systematic literature review is performed. In total, 47 articles were selected from top journals and conferences. The benefits, challenges, opportunities, and practices for ITSM implementation were extracted, critically analysed, and then discussed.info:eu-repo/semantics/publishedVersio

Early maladaptive schemas, emotion regulation difficulties, and alexithymia : A systematic review and meta-analysis

Background Emotion regulation is an integral part of the schema therapy model. The aim of this systematic review and meta-analysis was to synthesize the evidence on the associations between early maladaptive schemas (EMSs), difficulties with emotion regulation and alexithymia. Method PsycINFO, PubMed and CINAHL Complete databases were searched on 28 May 2022 and 3 February 2023 in compliance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses. Included studies were in English, in peer-reviewed journals and reported on the association between one or more of the 18 EMSs or five schema domains and emotion regulation difficulties or alexithymia. Methodological quality was assessed using the Appraisal Tool for Cross-Sectional Studies. Meta-analyses were conducted to examine difficulties with emotion regulation and alexithymia as correlates of each EMS and domain. Results A total of 19 studies published between 2008 and 2022 were included (Pooled N = 5957). Difficulties with emotion regulation were positively correlated with all 18 EMSs (range: entitlement r(7) = .28, 95% CI [.13, .42] to negativity pessimism r(5) = .53, 95% CI [.23, .74]) and schema domains (range: impaired limits r(5) = .34, 95% CI [.08, .56] to disconnection rejection r(5) = .44, 95% CI [.33, .73]). Alexithymia was positively correlated with the other-directedness domain (r(2) = .40, 95% CI [.09, .64]) and 16 of the 18 EMSs (range: unrelenting standards r(5) = .21, 95% CI [.12, .28] to emotional inhibition r(5) = .50, 95% CI [.34, .63]). Conclusions The findings suggested that almost all 18 EMSs are implicated in emotion regulation difficulties and alexithymia, particularly those relating to unmet needs for attachment and autonomy