Universal vs. risk-factor-based screening for gestational diabetes-an analysis from a 5-Year Portuguese Cohort

PURPOSE: The criteria to screen for Gestational Diabetes Mellitus are not internationally consensual. In opposition to the universal screening performed in Portugal, certain countries advocate a risk-factor-based screening. We aim to compare obstetric and neonatal outcomes in pregnant women with and without risk factors treated for Gestational Diabetes Mellitus. METHODS: Retrospective and multicentric study of 12,006 pregnant women diagnosed with Gestational Diabetes Mellitus between 2011 and 2015, in Portugal. Gestational Diabetes Mellitus was diagnosed according to the International Association of the Diabetes and Pregnancy Study Groups criteria. RISK FACTORS: body mass index > 30kg/m2, history of Gestational Diabetes Mellitus, history of macrossomic newborn (birth weight > 4000 g) or first-degree relatives with Type 2 Diabetes Mellitus. EXCLUSION CRITERIA: lack of data concerning risk factors (n = 1563). RESULTS: At least one risk factor was found in 68.2% (n = 7123) pregnant women. Pregnant women with risk factors were more frequently medicated with insulin (p < 0.001), caesarean section was more commonly performed (p < 0.001), their newborns were more frequently large-for-gestational-age (p < 0.001) and neonatal morbidity was higher (p = 0.040) in comparison to pregnant women without risk factors. The Diabetes Mellitus reclassification test showed an increased frequency of intermediate hyperglycaemia and Diabetes Mellitus in women with risk factors (p < 0.001). CONCLUSION: Almost one-third of pregnant women would have remained undiagnosed if risk-based-factor screening were implemented in Portugal. Women without risk factors presented fewer obstetric and neonatal complications. However, more than one third required insulin therapinfo:eu-repo/semantics/publishedVersio

Visceral Adipose Tissue Bioenergetics Varies According to Individuals' Obesity Class

Obesity is associated with complex adipose tissue energy metabolism remodeling. Whether AT metabolic reprogramming differs according to body mass index (BMI) and across different obesity classes is unknown. This study's purpose was to evaluate and compare bioenergetics and energy substrate preference of visceral adipose tissue (VAT) pertaining to individuals with obesity class 2 and class 3. VAT obtained from patients with obesity (n = 15) class 2 (n = 7; BMI 37.53 +/- 0.58 kg/m(2)) or class 3 (n = 8; BMI 47.79 +/- 1.52 kg/m(2)) was used to assess oxygen consumption rate (OCR) bioenergetics and mitochondrial substrate preferences. VAT of patients with obesity class 3 presented significantly higher non-mitochondrial oxygen consumption (p < 0.05). In VAT of patients with obesity class 2, inhibition of pyruvate and glutamine metabolism significantly decreased maximal respiration and spare respiratory capacity (p < 0.05), while pyruvate and fatty acid metabolism inhibition, which renders glutamine the only available substrate, increased the proton leak with a protective role against oxidative stress (p < 0.05). In conclusion, VAT bioenergetics of patients with obesity class 2 depicts a greater dependence on glucose/pyruvate and glutamine metabolism, suggesting that patients within this BMI range are more likely to be responsive to interventions based on energetic substrate modulation for obesity treatment

Strategies to obtain designer polymers based on cyanobacterial extracellular polymeric substances (EPS)

Biopolymers derived from polysaccharides are a sustainable and environmentally friendly alternative to the synthetic counterparts available in the market. Due to their distinctive properties, the cyanobacterial extracellular polymeric substances (EPS), mainly composed of heteropolysaccharides, emerge as a valid alternative to address several biotechnological and biomedical challenges. Nevertheless, biotechnological/biomedical applications based on cyanobacterial EPS have only recently started to emerge. For the successful exploitation of cyanobacterial EPS, it is important to strategically design the polymers, either by genetic engineering of the producing strains or by chemical modification of the polymers. This requires a better understanding of the EPS biosynthetic pathways and their relationship with central metabolism, as well as to exploit the available polymer functionalization chemistries. Considering all this, we provide an overview of the characteristics and biological activities of cyanobacterial EPS, discuss the challenges and opportunities to improve the amount and/or characteristics of the polymers, and report the most relevant advances on the use of cyanobacterial EPS as scaffolds, coatings, and vehicles for drug delivery.This work was financed by FEDER—Fundo Europeu de Desenvolvimento Regional funds through the COMPETE 2020 - Operacional Programme for Competitiveness and Internationalisation (POCI), Portugal 2020, and by Portuguese funds through FCT—Fundação para a Ciência e a Tecnologia/Ministério da Ciência, Tecnologia e Ensino Superior in the framework of the project POCI-01-0145-FEDER-028779, contract DL57/2016/CP1327/CT0007 and fellowship SFRH/BD/119920/2016

Diabetes gestacional - a experiência do hospital de braga versus outros centros do registo nacional da diabetes gestacional

info:eu-repo/semantics/publishedVersio

The role of the tyrosine kinase Wzc (Sll0923) and the phosphatase Wzb (Slr0328) in the production of extracellular polymeric substances (EPS) by Synechocystis PCC 6803

Many cyanobacteria produce extracellular polymeric substances (EPS) mainly composed of heteropolysaccharides with unique characteristics that make them suitable for biotechnological applications. However, manipulation/optimization of EPS biosynthesis/characteristics is hindered by a poor understanding of the production pathways and the differences between bacterial species. In this work, genes putatively related to different pathways of cyanobacterial EPS polymerization, assembly, and export were targeted for deletion or truncation in the unicellular Synechocystis sp. PCC 6803. No evident phenotypic changes were observed for some mutants in genes occurring in multiple copies in Synechocystis genome, namely ¿wzy (¿sll0737), ¿wzx (¿sll5049), ¿kpsM (¿slr2107), and ¿kpsM¿wzy (¿slr2107¿sll0737), strongly suggesting functional redundancy. In contrast, ¿wzc (¿sll0923) and ¿wzb (¿slr0328) influenced both the amount and composition of the EPS, establishing that Wzc participates in the production of capsular (CPS) and released (RPS) polysaccharides, and Wzb affects RPS production. The structure of Wzb was solved (2.28 Å), revealing structural differences relative to other phosphatases involved in EPS production and suggesting a different substrate recognition mechanism. In addition, Wzc showed the ATPase and autokinase activities typical of bacterial tyrosine kinases. Most importantly, Wzb was able to dephosphorylate Wzc in vitro, suggesting that tyrosine phosphorylation/dephosphorylation plays a role in cyanobacterial EPS production.Norte Portugal Regional Operational Programme (NORTE 2020), Grant/Award Number: NORTE‐01‐0145‐FE?ER‐000008 and NORTE‐01‐0145‐FE?ER‐000012; FCT ‐ Fundação para a Ciência e a Tecnologia/ Ministério da Ciência, Tecnologia e Ensino Superior, Grant/Award Number: PTDC/BIA‐ MIC/28779/2017, SFRH/BD /119920/2016, SFRH/B?/84914/2012 and SFRH/BD/99715/ 2014; FEDER ‐ Fundo Europeu de Desen‐ volvimento Regional funds through the COMPETE 2020 ‐ Operational Programme for Competitiveness and Internationalisation (POCI), Grant/Award Number: POCI‐01‐0145‐ FE?ER‐007274 ACKNOWLEDGMENTS: This work was financed by FEDER—Fundo Europeu de Desenvolvimento Regional funds through the COMPETE 2020— Operational Programme for Competitiveness and Internationalisation (POCI); projects NORTE‐01‐0145‐FEDER‐000012—Structured Programme on Bioengineering Therapies for Infectious ?iseases and Tissue Regeneration and NORTE‐01‐0145‐FEDER‐000008— Porto Neurosciences and Neurologic Disease Research Initiative at i3S, supported by Norte Portugal Regional Operational Programme (NORTE 2020), under the PORTUGAL 2020 Partnership Agreement; and by Portuguese funds through FCT—Fundação para a Ciência e a Tecnologia/Ministério da Ciência, Tecnologia e Ensino Superior in the framework of the project “Institute for Research and Innovation in Health Sciences” (POCI‐01‐0145‐FEDER‐007274 and PTDC/BIA‐ MIC/28779/2017) and grants SFRH/BD /119920/2016 (MS), SFRH/ BD /99715/2014 (CF), and SFRH/BD /129921/2017 (JPL). The au‐ thors thank F. Chauvat and the Commissariat à l’Energie Atomique (CEA), Direction des Sciences du Vivant, for providing the cas‐ sette for the deletion of the Synechocystis sll0923, the staff of the European Synchrotron Radiation Facility (Grenoble, France) and SOLEIL (Essonne, France) synchrotrons, Filipe Pinto, Frederico Silva, Hugo Osório, and Joana Furtado for their technical assistance

SARS-CoV-2 Infection in an Adolescent With X-linked Agammaglobulinemia.

We present a case of a 17-year-old boy with X-linked agammaglobulinemia who had mild disease when initially infected with SARS-CoV-2 but after recovering from acute infection developed fevers and a raised erythrocyte sedimentation rate that persisted for several weeks without any ongoing respiratory symptoms. Multiple nasopharyngeal swabs were found to be negative for SARS-CoV-2 during the febrile period, but typical changes of COVID-19 on high resolution CT chest scan led to the detection of SARS-CoV-2 on RT-PCR in a sample from a bronchoalveolar lavage. His fevers completely resolved after a 5-day course of remdesivir

Cardiospondylocarpofacial syndrome as a distinct hereditary connective tissue disorder: novel missense variant in MAP3K7 in two unrelated patients

CDKL5 deficiency disorder is a rare X-linked condition that results in early onset of impairedmotor and cognitive skills such as motor rigidity, stereotypical hand movements and deficient language acquisition aswell as recurrent seizures. It is caused by mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene, which encodes a serine/threonine kinase involved in important neuronal processes such as cell signaling and neuron morphogenesis.FCT: UID/Multi/04326/2019 (CCMAR)info:eu-repo/semantics/publishedVersio

Beta-2 adrenergic receptor gene polymorphisms Gln27Glu, Arg16Gly in patients with heart failure

<p>Abstract</p> <p>Background -</p> <p>Beta-2 adrenergic receptor gene polymorphisms Gln27Glu, Arg16Gly and Thr164Ile were suggested to have an effect in heart failure. We evaluated these polymorphisms relative to clinical characteristics and prognosis of alarge cohort of patients with heart failure of different etiologies.</p> <p>Methods -</p> <p>We studied 501 patients with heart failure of different etiologies. Mean age was 58 years (standard deviation 14.4 years), 298 (60%) were men. Polymorphisms were identified by polymerase chain reaction-restriction fragment length polymorphism.</p> <p>Results -</p> <p>During the mean follow-up of 12.6 months (standard deviation 10.3 months), 188 (38%) patients died. Distribution of genotypes of polymorphism Arg16Gly was different relative to body mass index (χ²= 9.797;p = 0.04). Overall the probability of survival was not significantly predicted by genotypes of Gln27Glu, Arg16Gly, or Thr164Ile. Allele and haplotype analysis also did not disclose any significant difference regarding mortality. Exploratory analysis through classification trees pointed towards a potential association between the Gln27Glu polymorphism and mortality in older individuals.</p> <p>Conclusion -</p> <p>In this study sample, we were not able to demonstrate an overall influence of polymorphisms Gln27Glu and Arg16Gly of beta-2 receptor gene on prognosis. Nevertheless, Gln27Glu polymorphism may have a potential predictive value in older individuals.</p

Holocene evolution of a barrier island system, Ria Formosa, South Portugal

Holocene evolution of the Ria Formosa barrier island system was studied through the examination of a large subsurface dataset acquired from 191 boreholes and five seismic refraction profiles. Two boreholes with total depths of 26 and 16.5 m were selected for a multi-proxy detailed laboratory analysis, including mean grain size distribution, organic matter (OM) content, color variation, shell identification, and benthic foraminifera assemblages. Selected cores are thought to be representative of the identified depositional sub-basins. Subsurface age data from 16 AMS C-14 dated samples were plotted against depth and resulted in a coherent age model of sedimentary infill. The system evolution was largely controlled by sediment availability, accommodation space, and Holocene sea level rise, first at a rapid rate of 7 mm/yr from 10 kcal yr BP to 7.25 kcal yr BP, followed by a slowdown to 1.1 mm/yr until present. A conceptual model for the origin and Holocene evolution of the Ria Formosa barrier island system implies three main steps, leading to the present system geomorphology: (1) marine flooding of incised palaeovalleys by the rapid transgression of palaeovalleys in the early Holocene(2) development of a proto-barrier island chain perched on Pleistocene detritic headlands and steeper interfluve areas during the early to middle Holoceneand (3) full development of the barrier islands chain and enclosing of the coastal lagoon, followed by the maturation of the system with subsequent siltation and salt marsh expansion from the middle Holocene until present. The onset of barrier system formation dates back to ca. 8 kcal yr BP, predating previously proposed age.SIHER project [PTDC/CTE-GIX112236/2009]EU Erasmus Mundus Joint Doctorate in Marine and Coastal Management (MACOMA) fellowship grant, under University of AlgarveEU Erasmus Mundus Joint Doctorate in Marine and Coastal Management (MACOMA) fellowship grant, under University of Cadi