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1.
J Pediatr ; 273: 114123, 2024 Oct.
Article in English | MEDLINE | ID: mdl-38815748

ABSTRACT

OBJECTIVE: To explore the mental health experiences of adolescents and young adults (AYA) with inflammatory bowel disease (IBD) enrolled in a randomized controlled trial evaluating the impact of a multimodal transition intervention. STUDY DESIGN: Virtual semistructured interviews were held with 21 AYA aged 16 through 18 years with IBD. Guided by qualitative description, interviews were digitally recorded, transcribed verbatim, and analyzed using an inductive approach to reflexive thematic analysis. RESULTS: Three themes were generated from the data: (1) a continuum of integration between IBD and personal identity in adolescence and young adulthood; (2) manifestations of the mind-gut connection among AYA with IBD; and (3) hopes and priorities for addressing mental health in IBD care. CONCLUSIONS: AYA with IBD endorsed the criticality of incorporating mental health discussions into routine care during the transition to adult care, given the co-occurrence of psychosocial stressors throughout this period. A series of factors promoting and hindering the integration of IBD into one's identity were identified and could be explored in clinical encounters.


Subject(s)
Inflammatory Bowel Diseases , Mental Health , Qualitative Research , Transition to Adult Care , Humans , Adolescent , Female , Male , Inflammatory Bowel Diseases/psychology , Inflammatory Bowel Diseases/therapy , Young Adult
2.
Environ Sci Pollut Res Int ; 31(9): 14333-14345, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38329663

ABSTRACT

We here report of a conference about "Pesticides in Soil, Groundwater and Food in Latin America as part of One Health" that took place at the "IV Seminario Internacional de Sanidad Agropecuaria (SISA)" in Varadero, Cuba, 8-12 May 2023. Researchers of Latin America (Argentina, Brazil, Chile, Costa Rica, Colombia, Cuba, Mexico) and Switzerland (workshop initiator) held presentations about occurrence and effects of pesticides on the environment, human health, the replacement of highly hazardous pesticides (HHP) by agroecological alternatives and the agri-food value chain. In a subsequent round table discussion, the presenters identified deficits, needs, interests and opportunities. According to them, the lack of awareness of pesticide use affects the health and safety of workers applying the chemicals. Despite Latin America representing the main agricultural area in the world with a very intense pesticide use, monitoring data of pesticides in soil, surface and groundwaters, food, as well as in humans are missing. Risks of pesticides to humans should be assessed so that authorities can withdraw or limit within "short time" the access to corresponding formulations on the market. Also, communication is not state of the art and should be improved as, e.g. the teaching of workers and farmers, how to correctly use and apply pesticides or the briefing of decision makers. Pollinators suffer from multiple stressors not the least due to pesticides, and alternatives are badly needed. On the technical side, the different analytical methods to determine residues of active ingredients and transformation products in matrices of concern should be harmonized among laboratories.Seven future actions and goals were identified to overcome the above deficits. Next steps after the publishing of this conference report are to harmonize and complete the information status of the presenters by exchanging the results/data already present. Therefore, a platform of interaction to address issues described above and to enhance collaboration shall be created. Samples of different matrices shall be exchanged to harmonize the chemical analysis and establish interlaboratory comparisons. Such activities might be facilitated by joining international associations or organizations, where researchers can offer their expertise, or by forming a new pesticide network for Central and South America that could present tailored projects to national and international organizations and funding agencies.


Subject(s)
Groundwater , One Health , Pesticides , Humans , Latin America , Pesticides/analysis , Soil , Brazil
3.
Eur J Med Chem ; 263: 115935, 2024 Jan 05.
Article in English | MEDLINE | ID: mdl-37989057

ABSTRACT

A series of hybrid inhibitors, combining pharmacophores of known kinase inhibitors bearing anilino-purines (ruxolitinib, ibrutinib) and benzohydroxamate HDAC inhibitors (nexturastat A), were generated in the present study. The compounds have been synthesized and tested against solid and hematological tumor cell lines. Compounds 4d-f were the most promising in cytotoxicity assays (IC50 ≤ 50 nM) vs. hematological cells and displayed moderate activity in solid tumor models (EC50 = 9.3-21.7 µM). Compound 4d potently inhibited multiple kinase targets of interest for anticancer effects, including JAK2, JAK3, HDAC1, and HDAC6. Molecular dynamics simulations showed that 4d has stable interactions with HDAC and members of the JAK family, with differences in the hinge binding energy conferring selectivity for JAK3 and JAK2 over JAK1. The kinase inhibition profile of compounds 4d-f allows selective cytotoxicity, with minimal effects on non-tumorigenic cells. Moreover, these compounds have favorable pharmacokinetic profiles, with high stability in human liver microsomes (e.g., see t1/2: >120 min for 4f), low intrinsic clearance, and lack of significant inhibition of four major CYP450 isoforms.


Subject(s)
Antineoplastic Agents , Neoplasms , Humans , Antineoplastic Agents/pharmacology , Antineoplastic Agents/chemistry , Histone Deacetylase Inhibitors/pharmacology , Histone Deacetylase Inhibitors/chemistry , Janus Kinases , Purines/pharmacology , Cell Line, Tumor , Cell Proliferation
4.
J Gerontol Soc Work ; 66(4): 512-529, 2023.
Article in English | MEDLINE | ID: mdl-36217794

ABSTRACT

Older adults who experience natural disasters are at risk for immediate and longer-term negative health outcomes and diminished quality of life (QOL), in part due to disruptions to social relationships and protections. We use a risk and resilience framework to examine the protective effects of psychological sense of community (PSOC) on self-rated health (SRH) and QOL for older adults in Puerto Rico 2 years after the devastation of Hurricane María in 2017. Between September 2019 and January 2020, we conducted face-to-face interviews with a nonprobability sample of 154 community-dwelling adults aged 60+ in Puerto Rico. Controlling for covariates, we used multivariate regression to examine the association of PSOC and key social risk factors (mental health, social isolation, and loneliness) with SRH and QOL. Higher levels of PSOC were significantly associated with better SRH and QOL. Regarding risks, worse mental health was significantly associated with lower QOL and SRH, loneliness was significantly related to worse QOL, and social isolation was significantly associated with better SRH and better QOL. PSOC was a protective factor for older adults, suggesting that prevention and intervention efforts should focus on building and sustaining older adults' sense of community in the longer-term wake of natural disasters.


Subject(s)
Cyclonic Storms , Humans , Aged , Puerto Rico/epidemiology , Quality of Life , Social Cohesion , Risk Factors
5.
Am J Med Genet B Neuropsychiatr Genet ; 192(1-2): 13-27, 2023 Jan.
Article in English | MEDLINE | ID: mdl-36056652

ABSTRACT

There is a possible accelerated biological aging in patients with substance use disorders (SUD). The evaluation of epigenetic clocks, which are accurate estimators of biological aging based on DNA methylation changes, has been limited to blood tissue in patients with SUD. Consequently, the impact of biological aging in the brain of individuals with SUD remains unknown. In this study, we evaluated multiple epigenetic clocks (DNAmAge, DNAmAgeHannum, DNAmAgeSkinBlood, DNAmPhenoAge, DNAmGrimAge, and DNAmTL) in individuals with SUD (n = 42), including alcohol (n = 10), opioid (n = 19), and stimulant use disorder (n = 13), and controls (n = 10) in postmortem brain (prefrontal cortex) and blood tissue obtained from the same individuals. We found a higher DNAmPhenoAge (ß = 0.191, p-value = 0.0104) and a nominally lower DNAmTL (ß = -0.149, p-value = 0.0603) in blood from individuals with SUD compared to controls. SUD subgroup analysis showed a nominally lower brain DNAmTL in subjects with alcohol use disorder, compared to stimulant use disorder and controls (ß = 0.0150, p-value = 0.087). Cross-tissue analyzes indicated a lower blood DNAmTL and a higher blood DNAmAge compared to their respective brain values in the SUD group. This study highlights the relevance of tissue specificity in biological aging studies and suggests that peripheral measures of epigenetic clocks in SUD may depend on the specific type of drug used.


Subject(s)
Alcoholism , Substance-Related Disorders , Humans , Substance-Related Disorders/genetics , DNA Methylation/genetics , Epigenomics , Aging/genetics , Brain , Epigenesis, Genetic/genetics
6.
Braz J Anesthesiol ; 73(5): 603-610, 2023.
Article in English | MEDLINE | ID: mdl-33895218

ABSTRACT

BACKGROUND: Manipulation of carcinoid tumors during ablation or selective hepatic artery embolization (transarterial embolization, TAE) can release vasoactive mediators inducing hemodynamic instability. The main aim of our study was to review hemodynamics and complications related to minimally invasive treatments of liver carcinoids with TAE or ablation. METHODS: Electronic medical records of all patients with metastatic liver carcinoid undergoing ablation or TAE from 2003 to 2019 were abstracted. Noted were severe hypotension (mean arterial pressure [MAP] ..± 55.ßmmHg), severe hypertension (systolic blood pressure ... 180.ßmmHg), and perioperative complications. Associations of procedure type and pre-procedure octreotide use with intraprocedural hemodynamics were assessed using linear regression. A robust covariance approach using generalized estimating equation method was used to account for multiple observations. RESULTS: A total of 161 patients underwent 98 ablations and 207 TAEs. Severe hypertension was observed in 24 (24.5%) vs. 15 (7.3%), severe hypotension in 56 (57.1%) vs. 6 (2.9%), and cutaneous flushing observed in 2 (2.0%) vs. 48 (23.2%) ablations and TAEs, respectively. After adjusting for preprocedural MAP, ablation was associated with lower intraprocedural MAP compared to TAE (estimate -27.ßmmHg, 95%CI -30 to -24.ßmmHg, p.ß<.ß0.001). Intraprocedural declines in MAP were not affected by preprocedural use of octreotide (p.ß=.ß0.7 for TAE and p.ß=.ß0.4 for ablation). CONCLUSIONS: Ablation of liver carcinoids was associated with substantial hemodynamic instability, especially hypotension. In contrast, a higher number of TAE patients had cutaneous flushing. Preprocedural use of octreotide was not associated with attenuation of intraprocedural hypotension.

7.
Braz. J. Anesth. (Impr.) ; 73(5): 603-610, 2023. tab, graf
Article in English | LILACS | ID: biblio-1520361

ABSTRACT

Abstract Background: Manipulation of carcinoid tumors during ablation or selective hepatic artery embolization (transarterial embolization, TAE) can release vasoactive mediators inducing hemodynamic instability. The main aim of our study was to review hemodynamics and complications related to minimally invasive treatments of liver carcinoids with TAE or ablation. Methods: Electronic medical records of all patients with metastatic liver carcinoid undergoing ablation or TAE from 2003 to 2019 were abstracted. Noted were severe hypotension (mean arterial pressure [MAP] ≤ 55 mmHg), severe hypertension (systolic blood pressure ≥ 180 mmHg), and perioperative complications. Associations of procedure type and pre-procedure octreotide use with intraprocedural hemodynamics were assessed using linear regression. A robust covariance approach using generalized estimating equation method was used to account for multiple observations. Results: A total of 161 patients underwent 98 ablations and 207 TAEs. Severe hypertension was observed in 24 (24.5%) vs. 15 (7.3%), severe hypotension in 56 (57.1%) vs. 6 (2.9%), and cutaneous flushing observed in 2 (2.0%) vs. 48 (23.2%) ablations and TAEs, respectively. After adjusting for preprocedural MAP, ablation was associated with lower intraprocedural MAP compared to TAE (estimate −27 mmHg, 95%CI −30 to −24 mmHg, p < 0.001). Intraprocedural declines in MAP were not affected by preprocedural use of octreotide (p = 0.7 for TAE and p = 0.4 for ablation). Conclusions: Ablation of liver carcinoids was associated with substantial hemodynamic instability, especially hypotension. In contrast, a higher number of TAE patients had cutaneous flushing. Preprocedural use of octreotide was not associated with attenuation of intraprocedural hypotension.


Subject(s)
Serotonin
8.
Health Soc Care Community ; 30(6): e5527-e5538, 2022 11.
Article in English | MEDLINE | ID: mdl-36039906

ABSTRACT

Social isolation is a well-established determinant of late-life well-being, and it may be particularly relevant for older adults in Puerto Rico following Hurricane María. The abbreviated Lubben Social Network Scale (LSNS-6) is a widely used measure of social isolation, but it has not been validated with Spanish-speaking older adults. The objectives of this study were to (1) assess the psychometric properties of a Spanish-language LSNS-6 and (2) examine its association with self-rated health (SRH) and psychological sense of community (PSOC). Data came from face-to-face survey interviews with a nonprobability sample of 154 community-dwelling older adults in Puerto Rico 2 years after Hurricane María. We assessed the LSNS-6's internal consistency reliability and convergent validity. We then conducted structural equational modelling consisting of (1) a measurement model using confirmatory factor analysis to test the factor structure of the LSNS-6 and (2) a structural model using path analysis to examine the direct effect of social isolation on SRH and to test the role of PSOC as a mediator in this relationship. The LSNS-6 demonstrated acceptable internal consistency reliability (α = 0.74) and convergent validity, r(151) = -0.33, p < 0.001. A correlated two-factor model (Family and Friends) provided the best fit (comparative fit index = 0.986, Tucker-Lewis index = 0.975, root mean square error of approximation = 0.082, standardised root mean squared residual = 0.033). Path model results show the Friends factor was negatively associated with SRH (ß = -0.31, p = 0.045), whilst the Family factor was nonsignificant. The Friends factor had a statistically significant indirect effect on SRH through PSOC (ß = 0.08, 95% CI [0.01, 0.29]). Our findings provide insight into the effect of social isolation on health amongst older adults in Puerto Rico and highlight the potential role of PSOC for assessment and intervention with older adults in post-disaster settings.


Subject(s)
Social Networking , Humans , Aged , Reproducibility of Results , Puerto Rico , Psychometrics , Surveys and Questionnaires
9.
Environ Monit Assess ; 194(6): 441, 2022 May 20.
Article in English | MEDLINE | ID: mdl-35596091

ABSTRACT

Cuba is a country with considerable potential for economic growth, and special efforts are made to increase the agricultural output. As food production depends on the quality of soils, heavy metal concentrations were measured in 39 soils in the province of Mayabeque, Cuba, and interpreted in light of anthropogenic activities and pedogenic conditions (soil type and properties). With median concentrations of 1.8 Cd, 60.3 Cr, 48.1 Cu, 36.2 Ni, 16.7 Pb, 55.0 Zn, and 0.1 mg/kg Hg, soils of Mayabeque were mostly below Cuban quality reference values (QRV) representing benchmarks of quality standards but no official threshold values. Only Cd concentrations were in many cases above the QRV of 0.6 mg/kg and some Cu concentrations above the one of 83 mg/kg. While Cd, Cr, and Ni concentrations were rather pedogenically driven, Cu, Pb, Zn, and Hg contents were rather anthropogenically influenced. When evaluated statistically, Cd and Cr showed most times a significant influence of both sources. In contrast, Ni and Zn could not be significantly related with the origins investigated in this study. Hence, the allocation of heavy metal concentrations to pedogenic or anthropogenic contamination or pollution sources is tentative and needs further investigations. Nevertheless, the present data adds information on soil heavy metal concentrations in the Caribbean region, serves as reference before further industrial development, and sets the ground for adaptation of the QRV for Cd and possibly future national environmental standards.


Subject(s)
Mercury , Metals, Heavy , Soil Pollutants , Cadmium , China , Cuba , Environmental Monitoring , Lead , Metals, Heavy/analysis , Risk Assessment , Soil , Soil Pollutants/analysis
11.
J Community Psychol ; 50(5): 2116-2129, 2022 07.
Article in English | MEDLINE | ID: mdl-34817078

ABSTRACT

The Brief Sense of Community Scale (BSCS) is a well-validated measure of psychological sense of community (PSOC), but it has yet to be tested with Spanish-speaking older adults. The current study uses data from face-to-face interviews with a non-probability sample of 154 community-dwelling older adults in Puerto Rico. We used confirmatory factor analysis (CFA) to test three competing factor structures. We also tested internal consistency reliability and convergent validity. CFA results show the second-order four-factor model was the best fit (χ2 (16) = 20.78, p = 0.187; CFI = 0.997, TLI = 0.995, SRMR = 0.026, RMSEA = 0.044, 90% CI [<0.001, 0.092]). The BSCS showed good reliability (α = 0.85) and was correlated in the expected direction with social network size (r = 0.34, p < 0.001) and loneliness (r = -0.27, p < 0.001). These findings indicate that the BSCS comprises the four domains (membership, needs fulfillment, emotional connection, and influence) from the original PSOC theory. These results inform theory development and can aid program planning, policy, and practice with older adults in Puerto Rico.


Subject(s)
Psychometrics , Aged , Factor Analysis, Statistical , Humans , Puerto Rico , Reproducibility of Results , Surveys and Questionnaires
12.
Int J Organ Transplant Med ; 13(2): 30-35, 2022.
Article in English | MEDLINE | ID: mdl-37641732

ABSTRACT

Background: Liver re-transplantation (re-LT) represents the only treatment for patients with irreversible graft failure. Objective: The aim of the current study was to describe the outcomes of both, patient and graft, after re- LT, at a high-volume referral center. Methods: Our population consisted of patients, with liver disease, who underwent re-LT in our institution between January 1996 and December 2019. Results: 49 patients met the inclusion criteria. The patient's overall survival (OS) for the first year was 85% (Confidence Intervals (CI) 71-92) and 70% at five years (CI 53-82). In our population, three (6.12%) patients presented loss of graft and were included again in the transplant list; of these, one agreed to a new transplant while the remaining two died. This gave us graft survival results similar to those obtained for the re-LT patient; 85% at one year (CI 71-92) and 70% at 5 years (CI 53-82). Conclusion: Our study shows that re-LT is a valid and safe treatment for both early graft dysfunction and for transplanted patients who again present end-stage liver disease, showing a satisfactory long-term evolution, with parameters comparable to primary transplantation.

13.
Lancet Reg Health Am ; 5: 100082, 2022 Jan.
Article in English | MEDLINE | ID: mdl-36776456

ABSTRACT

Background: On October 18th, 2019, protestors gathered across Chile to call for social equity, resulting in widespread civil unrest and violent confrontation with the police. In this study, we quantify the effects of the 2019 Chilean protests on emergency health services utilization and inpatient admission in Santiago. Methods: We used weekly emergency department (ED) admissions (2015-2019) from three large public hospitals near the focal point of protests in Santiago. The exposure period was from October 18th to December 31st, 2019. The outcomes were the number of weekly consultations and hospitalizations by trauma and respiratory causes and the proportion of hospitalizations among consultants per 1,000. We implemented Bayesian structural time series models to calculate the absolute and relative effects and 95% credible intervals (CrI). Findings: During the first ten weeks of protests ED consultations declined on average by 14% for trauma (95%CrI: -40·2%, 11·5%) and 30% for respiratory causes (95%CrI: -89·4%, 30·2%), 7% for respiratory hospitalizations (95%CrI: -43·6%, 30·8%); however, none of these three results were statistically distinguishable from the null. Trauma hospitalizations, on the other hand, increased by 15% (95%CrI: 4·0%, 26·4%), and the proportion of hospitalizations per consultations increased by 40% for trauma (95%CrI: 13·1%, 68·0%) and 59% for respiratory causes (95%CrI: 29·4%, 87·9%). Interpretation: The 2019 Chilean protests affected the use of emergency health services by increasing the trauma hospitalizations and the case hospitalization ratio per 1,000 consultations for trauma and respiratory causes. Crowd-control protocols must be reviewed to prevent the negative effects of civil unrest.

14.
Curr Biol ; 31(21): 4800-4809.e9, 2021 11 08.
Article in English | MEDLINE | ID: mdl-34496222

ABSTRACT

Sex chromosomes are generally derived from a pair of classical type-A chromosomes, and relatively few alternative models have been proposed up to now.1,2 B chromosomes (Bs) are supernumerary and dispensable chromosomes with non-Mendelian inheritance found in many plant and animal species3,4 that have often been considered as selfish genetic elements that behave as genome parasites.5,6 The observation that in some species Bs can be either restricted or predominant in one sex7-14 raised the interesting hypothesis that Bs could play a role in sex determination.15 The characterization of putative B master sex-determining (MSD) genes, however, has not yet been provided to support this hypothesis. Here, in Astyanax mexicanus cavefish originating from Pachón cave, we show that Bs are strongly male predominant. Based on a high-quality genome assembly of a B-carrying male, we characterized the Pachón cavefish B sequence and found that it contains two duplicated loci of the putative MSD gene growth differentiation factor 6b (gdf6b). Supporting its role as an MSD gene, we found that the Pachón cavefish gdf6b gene is expressed specifically in differentiating male gonads, and that its knockout induces male-to-female sex reversal in B-carrying males. This demonstrates that gdf6b is necessary for triggering male sex determination in Pachón cavefish. Altogether these results bring multiple and independent lines of evidence supporting the conclusion that the Pachón cavefish B is a "B-sex" chromosome that contains duplicated copies of the gdf6b gene, which can promote male sex determination in this species.


Subject(s)
Characidae , Animals , Biological Evolution , Caves , Characidae/genetics , Female , Male , Sex Chromosomes/genetics
15.
J Trace Elem Med Biol ; 67: 126781, 2021 Sep.
Article in English | MEDLINE | ID: mdl-34015659

ABSTRACT

BACKGORUND: Cowpea is a crop widely used in developing countries due its rusticity. Besides its rich genotypic variability, most breeding programs do not explore its potential to improve elements uptake. Selenium (Se) is a scarce element in most soils, resulting in its deficiency being common in human diets. This study aimed to evaluate the interaction between biofortification with Se and genotypic variation in cowpea, on the concentrations of Se in roots, leaves + stem and grains. METHODS: Twenty-nine cowpea genotypes were grown in a greenhouse in the absence (control) and presence of Se (12.5 µg Se kg-1 soil) as sodium selenate, in fully randomized scheme. The plants were cultivated until grains harvest. The following variables were determined: roots dry weight (g), leaves + stems dry weight (g), grains dry weight (g), Se concentration (mg kg-1) in roots, leaves + stems and grains, and Se partitioning to shoots and grains. RESULTS: Selenium application increased the Se concentration in roots, leaves + stems and grains in all genotypes. At least twofold variation in grain Se concentration was observed among genotypes. Selenium application did not impair biomass accumulation, including grain dry weight. Genotype "BRS Guariba" had the largest Se concentration in grains and leaves + stems. Genotype MNC04-795 F-158 had the largest partitioning of Se to shoots and grain, due to elevated dry weights of leaves + stems and grain, and high Se concentrations in these tissues. CONCLUSION: This information might be valuable in future breeding programs to select for genotypes with better abilities to accumulate Se in grain to reduce widespread human Se undernutrition.


Subject(s)
Vigna , Edible Grain , Genotype , Humans , Selenic Acid , Selenium , Soil , Vigna/genetics
16.
Sci Rep ; 11(1): 2240, 2021 01 26.
Article in English | MEDLINE | ID: mdl-33500432

ABSTRACT

Studies estimate that gender-diverse persons represent 0.1 to 2% of populations investigated, but no such assessment was performed in Latin America. In a representative sample of Brazil's adult population (n = 6000), we investigated participants' sociodemographic characteristics and possible associations between these and current gender identity, categorized as cisgender, transgender or non-binary gender. We also investigated transgender individuals' distress associated with gender-related body characteristics. As main results, we found that transgender individuals represented 0.69% (CI95% = 0.48-0.90) of the sample, whereas non-binary persons were 1.19% (CI95% = 0.92-1.47). These percentages were not different among Brazil's 5 geographic regions. Preliminary analyses showed that transgender individuals were on average younger (32.8 ± 14.2 years, CI95% = 28.5-37.1), compared to cisgender (42.2 ± 15.9, CI95% = 42.5-42.8) and non-binary (42.1 ± 16.5 years, CI95% = 38.3-46.5) groups. Non-binary persons are less likely to be in a relationship compared to cisgender individuals (OR = 0.57, CI95% = 0.35-0.93). In the transgender group, 85% of transgender men and 50% of transgender women reported distress due to gender-related body characteristics. Our main findings draw attention that gender-diverse Brazilian individuals represent around 2% of the country's adult population (almost 3 million people), and are homogeneously located throughout the country, reiterating the urgency of public health policies for these individuals in the five Brazilian sub-regions.


Subject(s)
Transgender Persons/statistics & numerical data , Adult , Brazil/epidemiology , Female , Gender Identity , Humans , Male , Middle Aged , Surveys and Questionnaires
17.
Hist Cienc Saude Manguinhos ; 27(4): 1207-1223, 2020.
Article in Portuguese | MEDLINE | ID: mdl-33338184

ABSTRACT

This article presents new approaches for investigating the past using digital technologies. "Pauliceia 2.0: collaborative mapping of the history of São Paulo (1870-1920)" is an open-source project intended to broadly engage with the public through collaborative methodologies. This text discusses the concept, current status, and prospects of this project, and presents it as a case study to discuss the relationship between digital technologies and historical methods. The product of this journey (at least the outcome intended by the authors and the other team members listed at the end of the article) is meant to assign new meaning to the project at the juncture between digital humanities, public history, and open science.


O artigo apresenta novas abordagens para investigar o passado usando tecnologias digitais. O projeto "Pauliceia 2.0: mapeamento colaborativo da história de São Paulo (1870-1920)" é de código aberto e visa engajar o público de maneira ampla, usando metodologias colaborativas. O texto discute a concepção do projeto, seu estágio atual e suas perspectivas. Além disso, também se oferece o Pauliceia 2.0 como um estudo de caso para discutir a relação entre tecnologias digitais e métodos históricos. O resultado desse percurso, ao menos essa é a intenção dos autores listados e dos demais integrantes da equipe do projeto, nomeados ao final do artigo, almeja ressignificar o trabalho em questão na confluência entre humanidades digitais, história pública e ciência aberta.

18.
Front Genet ; 11: 551780, 2020.
Article in English | MEDLINE | ID: mdl-33240313

ABSTRACT

Introduction: Patients with Huntington-Like disorders (HLD) comprise a variety of allelic disorders sharing a Huntington phenotype. The hexanucleotide repeat expansion of the C9orf72 gene could explain part of the HLD etiology. We aimed to conduct a systematic review and meta-analysis looking for the frequency of the hexanucleotide repeat expansion of the C9orf72 gene in HLD patients. Methods: The protocol was registered on the International Prospective Register of Systematic Reviews database (PROSPERO) (registration number: CRD42018105465). The search was carried out in Medline, Scopus, Web of Science, and Embase in April 2018, and updated in July 2020. Observational studies reporting patients with HLD carrying the hexanucleotide repeat expansion in the C9orf72 gene were selected and reviewed; this process was duplicated. The cutoff threshold for considering the hexanucleotide expansion as a pathogenic variant was equal to or >30 G4C2 repeats. Cases with intermediate alleles with 20-29 repeat are also analyzed. Pooled frequency and 95% CI were calculated using random-effects models. Results: Nine out of 219 studies were selected, reporting 1,123 affected individuals with HLD. Among them, 18 individuals carried C9orf72 expansion, representing 1% (95% CI: 0-2%, I 2 = 0%) of the pooled frequency. Seven selected studies came from European centers, one was reported at a US center, and one came from a South-African center. We identified five individuals carrying intermediate alleles representing 3% (95% CI: 0-14%, I 2 = 78.5%). Conclusions: The frequency of C9orf72 unstable hexanucleotide repeat expansion in HLD patients is very low. Further studies with more accurate clinical data and from different ethnic backgrounds are needed to confirm this observation.

19.
Zootaxa ; 4816(4): zootaxa.4816.4.3, 2020 Jul 20.
Article in English | MEDLINE | ID: mdl-33055684

ABSTRACT

The Gulf coastal drainages of central Mexico are a faunal transition zone between North and South America and harbor a unique assemblage of freshwater mussels (Bivalvia: Unionida). However, little information is available regarding the taxonomy, distribution, and evolutionary history of the Mexican mussel fauna due to limited sampling over the last 100 years. To address these knowledge gaps, we evaluated species-level diversity in the genus Popenaias Frierson, 1927, in Mexican Gulf coastal drainages as part of a larger effort to inform conservation efforts for members of this genus both in Mexico and the United States of America. Based on our analyses, we describe Popenaias berezai n. sp. from the Río Valles of the Río Pánuco basin, San Luis Potosí, Mexico. We also provide presumptive distributional range, phylogenetic structure, and molecular and morphological diagnoses of the new species and provide comments on the other species currently in Popenaias. Our findings highlight the high levels of endemism among freshwater mussels in Mexican Gulf coastal drainages and will help guide impending conservation actions for P. popeii, which is listed as "endangered" in the United States.


Subject(s)
Bivalvia , Unionidae , Animals , Fresh Water , Mexico , Phylogeny , Rivers
20.
Hist. ciênc. saúde-Manguinhos ; Hist. ciênc. saúde-Manguinhos;27(4): 1207-1223, Oct.-Dec. 2020. graf
Article in Portuguese | LILACS | ID: biblio-1142988

ABSTRACT

Resumo O artigo apresenta novas abordagens para investigar o passado usando tecnologias digitais. O projeto "Pauliceia 2.0: mapeamento colaborativo da história de São Paulo (1870-1920)" é de código aberto e visa engajar o público de maneira ampla, usando metodologias colaborativas. O texto discute a concepção do projeto, seu estágio atual e suas perspectivas. Além disso, também se oferece o Pauliceia 2.0 como um estudo de caso para discutir a relação entre tecnologias digitais e métodos históricos. O resultado desse percurso, ao menos essa é a intenção dos autores listados e dos demais integrantes da equipe do projeto, nomeados ao final do artigo, almeja ressignificar o trabalho em questão na confluência entre humanidades digitais, história pública e ciência aberta.


Abstract This article presents new approaches for investigating the past using digital technologies. "Pauliceia 2.0: collaborative mapping of the history of São Paulo (1870-1920)" is an open-source project intended to broadly engage with the public through collaborative methodologies. This text discusses the concept, current status, and prospects of this project, and presents it as a case study to discuss the relationship between digital technologies and historical methods. The product of this journey (at least the outcome intended by the authors and the other team members listed at the end of the article) is meant to assign new meaning to the project at the juncture between digital humanities, public history, and open science.


Subject(s)
Interdisciplinary Research , Digital Technology , Brazil , History, 19th Century , History, 20th Century , Humanities
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