Comparative chromosome mapping of repetitive sequences. Implications for genomic evolution in the fish, Hoplias malabaricus

<p>Abstract</p> <p>Background</p> <p>Seven karyomorphs of the fish, <it>Hoplias malabaricus </it>(A-G) were previously included in two major groups, Group I (A, B, C, D) and Group II (E, F, G), based on their similar karyotype structure. In this paper, karyomorphs from Group I were analyzed by means of distinct chromosomal markers, including silver-stained nucleolar organizer regions (Ag-NORs) and chromosomal location of repetitive sequences (18S and 5S rDNA, and satellite 5S<it>Hind</it>III-DNA), through fluorescence in situ hybridization (FISH), in order to evaluate the evolutionary relationships among them.</p> <p>Results</p> <p>The results showed that several chromosomal markers had conserved location in the four karyomorphs. In addition, some other markers were only conserved in corresponding chromosomes of karyomorphs A-B and C-D. These data therefore reinforced and confirmed the proposed grouping of karyomorphs A-D in Group I and highlight a closer relationship between karyomorphs A-B and C-D. Moreover, the mapping pattern of some markers on some autosomes and on the chromosomes of the XY and X₁X₂Y systems provided new evidence concerning the possible origin of the sex chromosomes.</p> <p>Conclusion</p> <p>The <it>in situ </it>investigation of repetitive DNA sequences adds new informative characters useful in comparative genomics at chromosomal level and provides insights into the evolutionary relationships among <it>Hoplias malabaricus </it>karyomorphs.</p

Tectonic and lithological controls on fluvial landscape development in Central-Eastern Portugal: Insights from long profile tributary stream analyses

This study examines the long profiles of tributaries of the Tagus and Zêzere rivers in Portugal (West Iberia) in order to provide new insights into patterns, timing, and controls on drainage development during the Quaternary incision stage. The studied streams are incised into a relict culminant fluvial surface, abandoned at the beginning of the incision stage. The streams flow through a landscape with bedrock variations in lithology (mainly granites and metasediments) and faulted blocks with distinct uplift rates. The long profiles of the analyzed streams record an older transitory knickpoint/knickzone separating (1) an upstream relict graded profile, with lower steepness and higher concavity, that reflects a long period of quasi-equilibrium conditions reached after the beginning of the incision stage, and (2) a downstream rejuvenated long profile, with steeper gradient and lower concavity, particularly for the final reach, which is often convex. The rejuvenated reaches testify to the upstream propagation of several incision waves, interpreted as the response of each stream to increasing crustal uplift and prolonged periods of base-level lowering by the trunk drainages, coeval with low sea level conditions. The morphological configurations of the long profiles enabled spatial and relative temporal patterns of incisions to be quantified. The incision values of streams flowing on the Portuguese Central Range (PCR; ca. 380–150 m) are variable but generally higher than the incision values of streams flowing on the adjacent South Portugal Planation Surface (SPPS; ca. 220–110 m), corroborating differential uplift of the PCR relative to the SPPS. Owing to the fact that the relict graded profiles can be correlated with the Tagus River T1 terrace (1.1–0.9 My) present in the study area, incision rates can be estimated (1) for the streams located in the PCR, 0.38–0.15 m/ky and (2) for the streams flowing on the SPPS, 0.22–0.12 m/ky. The differential uplift inferred in the study area supports the neotectonic activity of the bordering faults, as proposed in previous studies based upon other geological evidence

Chromosome spreading of associated transposable elements and ribosomal DNA in the fish Erythrinus erythrinus. Implications for genome change and karyoevolution in fish

<p>Abstract</p> <p>Background</p> <p>The fish, <it>Erythrinus erythrinus</it>, shows an interpopulation diversity, with four karyomorphs differing by chromosomal number, chromosomal morphology and heteromorphic sex chromosomes. Karyomorph A has a diploid number of 2n = 54 and does not have differentiated sex chromosomes. Karyomorph D has 2n = 52 chromosomes in females and 2n = 51 in males, and it is most likely derived from karyomorph A by the differentiation of a multiple X₁X₂Y sex chromosome system. In this study, we analyzed karyomorphs A and D by means of cytogenetic approaches to evaluate their evolutionary relationship.</p> <p>Results</p> <p>Conspicuous differences in the distribution of the 5S rDNA and <it>Rex3 </it>non-LTR retrotransposon were found between the two karyomorphs, while no changes in the heterochromatin and 18S rDNA patterns were found between them. <it>Rex3 </it>was interstitially dispersed in most chromosomes. It had a compartmentalized distribution in the centromeric regions of only two acrocentric chromosomes in karyomorph A. In comparison, in karyomorph D, <it>Rex3 </it>was found in 22 acrocentric chromosomes in females and 21 in males. All 5S rDNA sites co-localized with <it>Rex3</it>, suggesting that these are associated in the genome. In addition, the origin of the large metacentric Y chromosome in karyomorph D by centric fusion was highlighted by the presence of internal telomeric sites and 5S rDNA/<it>Rex3 </it>sites on this chromosome.</p> <p>Conclusion</p> <p>We demonstrated that some repetitive DNAs (5S rDNA, <it>Rex3 </it>retroelement and (TTAGGG)_ntelomeric repeats) were crucial for the evolutionary divergence inside <it>E. erythrinus</it>. These elements were strongly associated with the karyomorphic evolution of this species. Our results indicate that chromosomal rearrangements and genomic modifications were significant events during the course of evolution of this fish. We detected centric fusions that were associated with the differentiation of the multiple sex chromosomes in karyomorph D, as well as a surprising increase of associated 5S rDNA/<it>Rex3 </it>loci, in contrast to karyomorph A. In this sense, <it>E. erythrinus </it>emerges as an excellent model system for better understanding the evolutionary mechanisms underlying the huge genome diversity in fish. This organism can also contribute to understanding vertebrate genome evolution as a whole.</p

Metabolic Syndrome, Thyroid Function and Autoimmunity - The PORMETS Study

Background: The prevalence of thyroid dysfunction and autoimmunity in the Portuguese population has not yet been estimated. However, the national prevalence of the metabolic syndrome remains high. The association of thyroid pathology with cardiovascular risk has been addressed but is still unclear. Our study aimed to evaluate the prevalence of thyroid dysfunction and autoimmunity and to assess the associations of thyroid-stimulating hormone and thyroid hormones and antibodies with metabolic syndrome, its components, and other possible determinants in a national sample. Material and Methods: The present study included a subsample of 486 randomly selected participants from a nationwide cross-sectional study sample of 4095 adults. A structured questionnaire was administered on past medical history and socio-demographic and behavioural characteristics. Blood pressure and anthropometric measurements were collected, and the serum lipid profile, glucose, insulin, hs- CRP, TSH, FT4, FT3 and thyroid antibodies were measured. Results: In our sample, the prevalence of hypothyroidism, hyperthyroidism and undiagnosed dysfunction was 4.9%, 2.5% and 72.2%, respectively. Overall, the prevalence of positivity for the thyroid peroxidase and thyroglobulin antibodies was 11.9% and 15.0%, respectively. A positive association was found between free triiodothyronine and metabolic syndrome (OR: 2.019; 95% CI: 1.196, 3.410). Additionally, thyroid peroxidase antibodies had a negative association with metabolic syndrome (OR: 0.465; 95% CI: 0.236, 0.917) and its triglyceride component (OR: 0.321; 95% CI: 0.124, 0.836). Conclusion: The prevalence of undiagnosed thyroid dysfunction and autoimmunity was high. Thyroid peroxidase antibodies were negatively associated with metabolic syndrome and its triglyceride component, whereas the free triiodothyronine level was positively associated with metabolic syndrome

Upper Airway Video Endoscopy: Assessment of the response to positive pressure ventilation and mechanical in-exsufflation

Upper airways (UA) include the nasal cavities, pharynx, and larynx, and its main function is to warm and filter the inspired air. UA dysfunction is in the pathogenesis of various disorders, such as obstructive sleep apnea syndrome (OSAS) and vocal cord dysfunction. In addition, in some neurodegenerative diseases (e.g. Amyotrophic Lateral Sclerosis – ALS), UA dysfunction may also compromise the effective use of ventilatory support (VS). In this context, the endoscopic evaluation of UA may be useful in understanding the OSAS mechanisms, in determining the causes for treatment-induced airway obstruction and even in helping to titrate noninvasive ventilation (NIV) in ALS patients with bulbar or pseudo-bulbar (spastic) dysfunction. Specifically, in OSAS patients, when residual obstructive events persist, although an optimal ventilatory mode has been apparently achieved, along with interface and equipment, the endoscopic evaluation of UA seems to be a valuable tool in understanding its mechanisms, even assisting adjustments to NIV parameters. In addition, it has also been described as being useful in laryngeal response to mechanical in-exsufflation (MI-E) and Exercise-Induced Laryngeal Obstruction (EILO). However, no protocol has yet been published or validated for this. For this reason, a literature review was conducted on UA function and its response to positive pressure and MI-E. Special emphasis has also been given to the current indication for video endoscopy in chronically ventilated patients.Martins N. would like to thank the Portuguese Foundation for Science and Technology (FCT – Portugal) for the Strategic project ref. UID/BIM/04293/2013 and “ NORTE2020—Programa Operacional Regional do Norte ” ( NORTE-01-0145-FEDER-000012 )

Accessibility and integration of HIV, TB and harm reduction services for people who inject drugs in Portugal: a rapid assessment

Executive summary Background: Injecting drug use is associated with high risk of tuberculosis (TB) and reduced retention in treatment. Provision of opioid substitution therapy (OST) improves HIV and TB treatment outcomes among people who inject drugs (PWID) but there is a lack of documented strategies for the effective delivery of integrated HIV, TB and drug dependency treatment. Within a harm reduction framework, Portugal has made concerted efforts to move towards integrated service delivery. We aimed to document existing models of integrated TB and HIV care for PWID in Porto, Portugal. Methods: We undertook a rapid assessment combining the following methods and data sources: a mapping of existing HIV, TB, hepatitis C virus (HCV) and drug dependency treatment services in Porto; a review of existing data on HIV, TB and drug treatment service use and integration; semi-structured interviews with 30 PWID with experience of HIV and/or TB, and with seven providers representing HIV, TB, drug treatment, outreach and prison health services. We analysed quantitative data descriptively and qualitative data thematically, triangulating findings throughout data collection and analysis. Findings: The assessment documented two models of integrated HIV, TB and drug dependency care for PWID. The first ‘combined’ model provides all services within a designated centre staffed by a co-located team of specialists with shared case management protocols. This approach facilitates multidisciplinary care but is resource-intensive, limited to a specific location and offers reduced scope for community/home-based care. The second ‘collaborative’ model is a less formalised, client-centred approach in which multiple and existing health programmes work together to achieve co-located treatment delivery in a location convenient to the patient, with outreach teams often acting as mediators between services. This model allows prompt access and adaptability to clients’ circumstances but is highly dependent on the participation of multiple services. The relative success of integration was shaped by four key factors: the extent of collaborative networks and shared protocols; the central involvement of outreach teams; provision of uninterrupted OST; and flexibility over treatment location. Engagement in services more broadly was shaped by social network and outreach support; recognition of patient autonomy; patient-provider relationships; timing of testing and treatment provision; treatment literacy; and the availability of social care. Few quantitative data were available to assess service integration. Targeted rapid HIV testing in drug treatment centres has achieved high coverage among PWID but rates of TB and HCV screening were low and incompletely reported. Most TB patients knew their HIV status but no equivalent data were available on TB among patients receiving HIV care. Recommendations: Guidelines on integration of HIV, TB and drug dependency care should reflect the importance of: multi-agency collaboration, use of existing professional networks to develop mechanisms for expedited access to integrated care; uninterrupted provision of drug dependency treatment accounting for interactions with anti-TB and anti-retroviral therapy; a client-centred approach recognising service users’ autonomy; and the key role outreach programmes can play in facilitating access. Recommendations specific to Porto include expansion of TB and HCV screening among PWID; improved health information systems; streamlined referral mechanisms; increased user involvement; renewed focus on HCV; tackling stigma in primary care; and addressing PWIDs’ broader social care needs

Genetic Modulation of the Erythrocyte Phenotype Associated with Retinopathy of Prematurity—A Multicenter Portuguese Cohort Study

The development of retinopathy of prematurity (ROP) may be influenced by anemia or a low fetal/adult hemoglobin ratio. We aimed to analyze the association between DNA methyltransferase 3 β (DNMT3B) (rs2424913), methylenetetrahydrofolate reductase (MTHFR) (rs1801133), and lysine-specific histone demethylase 1A (KDM1A) (rs7548692) polymorphisms, erythrocyte parameters during the first week of life, and ROP. In total, 396 infants (gestational age < 32 weeks or birth weight < 1500 g) were evaluated clinically and hematologically. Genotyping was performed using a MicroChip DNA on a platform employing iPlex MassARRAY®. Multivariate regression was performed after determining risk factors for ROP using univariate regression. In the group of infants who developed ROP red blood cell distribution width (RDW), erythroblasts, and mean corpuscular volume (MCV) were higher, while mean hemoglobin and mean corpuscular hemoglobin concentration (MCHC) were lower; higher RDW was associated with KDM1A (AA), MTHFR (CC and CC + TT), KDM1A (AA) + MTHFR (CC), and KDM1A (AA) + DNMT3B (allele C); KDM1A (AA) + MTHFR (CC) were associated with higher RDW, erythroblasts, MCV, and mean corpuscular hemoglobin (MCH); higher MCV and MCH were also associated with KDM1A (AA) + MTHFR (CC) + DNMT3B (allele C). We concluded that the polymorphisms studied may influence susceptibility to ROP by modulating erythropoiesis and gene expression of the fetal/adult hemoglobin ratio.info:eu-repo/semantics/publishedVersio

Neuropatia do Femoral Associada à Anticoagulação profilática num Doente com COVID-19 Grave: Caso Clínico

info:eu-repo/semantics/publishedVersio

Addressing drinking water salinity due to sea water intrusion in Praia de Leste, Parana, by a brackish water desalination pilot plant

Seawater intrusion into the Pombas River, source of freshwater to Praia de Leste on the coast of Parana in Brazil presents a problem to the water utility as most water treatment plants in Brazil are conventional. To find a solution to this problem, a pilot plant (1 m3 /h) consisting of ultrafiltration (UF) followed by reverse osmosis (RO) was developed and evaluated. For testing, brackish water was produced with a concentration of 1,500 ± 100 mg/L of total dissolved solids (TDS), mixing seawater and fresh water. To evaluate the water quality, TDS, electrical conductivity, pH, temperature, apparent color, turbidity, alkalinity, total hardness, calcium, chloride and sulfate were monitored. For operational performance, flowrates, osmotic pressure, filtration rate, recovery rate and mass balance were analyzed. On average, the UF system removed 96.4% of turbidity and 98.6% of apparent color; whereas the RO system removed 99.4% of TDS. The overall average recovery (UF and RO) was 45.81% with average osmotic pressure of 8.21 bar, filtration rate of 30.7 L/h/m2 in the UF system and 21.7 L/h/m2 in the RO system. From a water quality point of view, the system was effective in processing brackish into fresh water of high quality