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1.
Sci Total Environ ; 905: 167224, 2023 Dec 20.
Artigo em Inglês | MEDLINE | ID: mdl-37739075

RESUMO

Urbanisation, population growth, and climate change have put unprecedented pressure on water resources, leading to a global water crisis and the need for water reuse. However, water reuse is unsafe unless persistent chemical pollutants are removed from reclaimed water. State-of-the-art technologies for the reduction of persistent chemical pollutants in wastewater typically impose high operational and energy costs and potentially generate toxic by-products (e.g., bromate from ozonation). Nature-base solutions are preferred to these technologies for their lower environmental impact. However, so far, bio-based tertiary wastewater treatments have been inefficient for industrial-scale applications. Moreover, they often demand significant financial investment and large infrastructure, undermining sustainability objectives. Here, we present a scalable, low-cost, low-carbon, and retrofittable nature-inspired solution to remove persistent chemical pollutants (pharmaceutical, pesticides and industrial chemicals). We showed Daphnia's removal efficiency of individual chemicals and chemicals from wastewater at laboratory scale ranging between 50 % for PFOS and 90 % for diclofenac. We validated the removal efficiency of diclofenac at prototype scale, showing sustained performance over four weeks in outdoor seminatural conditions. A techno-commercial analysis on the Daphnia-based technology suggested several technical, commercial and sustainability advantages over established and emerging treatments at comparable removal efficiency, benchmarked on available data on individual chemicals. Further testing of the technology is underway in open flow environments holding real wastewater. The technology has the potential to improve the quality of wastewater effluent, meeting requirements to produce water appropriate for reuse in irrigation, industrial application, and household use. By preventing persistent chemicals from entering waterways, this technology has the potential to maximise the shift to clean growth, enabling water reuse, reducing resource depletion and preventing environmental pollution.


Assuntos
Cladocera , Poluentes Ambientais , Poluentes Químicos da Água , Purificação da Água , Animais , Águas Residuárias , Eliminação de Resíduos Líquidos , Diclofenaco , Poluentes Ambientais/análise , Poluentes Químicos da Água/análise
2.
Mol Genet Metab Rep ; 37: 100995, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37662493

RESUMO

Background: Schimke immune-osseous dysplasia (SIOD) is an ultra-rare multisystemic, monogenic, and autosomal recessive inherited disease caused by biallelic mutations in the SMARCAL1 gene. Approximately 100 cases have been reported worldwide. The disease is characterized by skeletal, renal, and immunological abnormalities. Case description: This is a 6-year-old female patient who debuted with nephrotic syndrome at five years of age, with a switch to corticosteroid resistance and poor response to immunosuppressive treatment received. The patient was admitted and referred to our institution due to convulsive status. During her hospitalization, thrombosis was found in the left renal vein, and a renal biopsy report of Collapsing Focal and Segmental Glomerulosclerosis (FSGS) was obtained. The patient had multiple infections during hospitalization, with T lymphocyte lymphopenia and severe IgG hypogammaglobulinemia. Additionally, given dysmorphic facies, delayed weight-height development, and spondyloepiphyseal dysplasia, exome sequencing was performed, finding an homozygous pathogenic variant c.1933C > T p.Arg645Cys in SMARCAL1, compatible with the diagnosis of SIOD. Discussion: We present the case of a patient that exhibited a severe phenotype of the disease, with skeletal, renal, severe combined immunological compromise and cerebrovascular involvement during follow-up, and the available proposed mechanisms of the disease focused on the clinical manifestations of this patient. It is the first case of SIOD reported in Colombia and the first comprehensive characterization reported in the literature of a patient with homozygosity of the known variant c.1933C > T p.Arg645Cys. Conclusion: A severe phenotype of the disease with cerebrovascular involvement by homozygosity of the known variant c.1933C > T p.Arg645Cys in the SMARCAL1 gene can be expected.

3.
Appl Clin Genet ; 15: 63-68, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35821784

RESUMO

White-Sutton syndrome is a rare type of autosomal dominant neurodevelopmental disorder caused by mutations, mostly de novo, in the POGZ gene. No more than 120 patients have been described so far in the literature. Common clinical manifestations include intellectual disability, developmental delay, autism spectrum disorder, other behavioral abnormalities, sleeping problems, hyperactivity and visual problems. We describe a 20-year-old male patient from Colombia who presented with delayed psychomotor development, intellectual disability, obesity, sleep difficulties, hypotonia, hypogonadism, gynecomastia, visual abnormalities and several facial dysmorphisms. Genetic testing showed a novel heterozygous frameshift variant (c.3308del; p.Leu1103Profs*19) in the POGZ gene (NM_015100.3). This is the first report of a diagnosed patient with WHSUS in Colombia.

4.
Nat Commun ; 13(1): 3354, 2022 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-35688812

RESUMO

The majority of basaltic magmas stall in the Earth's crust as a result of the rheological evolution caused by crystallization during transport. However, the relationships between crystallinity, rheology and eruptibility remain uncertain because it is difficult to observe dynamic magma crystallization in real time. Here, we present in-situ 4D data for crystal growth kinetics and the textural evolution of pyroxene during crystallization of trachybasaltic magmas in high-temperature experiments under water-saturated conditions at crustal pressures. We observe dendritic growth of pyroxene on initially euhedral cores, and a surprisingly rapid increase in crystal fraction and aspect ratio at undercooling ≥30 °C. Rapid dendritic crystallization favours a rheological transition from Newtonian to non-Newtonian behaviour within minutes. We use a numerical model to quantify the impact of rapid dendritic crystallization on basaltic dike propagation, and demonstrate its dramatic effect on magma mobility and eruptibility. Our results provide insights into the processes that control whether intrusions lead to eruption or not.

5.
Clin Nutr ESPEN ; 47: 306-314, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-35063219

RESUMO

BACKGROUND: Addressing the high prevalence of disease-related malnutrition (DRM) requires political will. The aim of this study is to define DRM as a health public policy issue from the point of view of the stakeholders. METHODS: We conducted a qualitative phenomenological study consisting of grey data search and individual semi-structured in-depth interviews with stakeholders (policy-makers, academics, and civil society organization representatives) from 17 Latin American countries. The analyzed themes reflected ideas repeatedly found across the interviews. RESULTS: 26 respondents were interviewed (5 policy-makers, 18 academics, 3 civil society organizations representatives). The grey data research and interviews showed that Brazil and Costa Rica were the only countries in the Region that had developed a specific public health policy addressing DRM and nutrition care issues. The rest of the Latin American countries had a nutrition policy which neither addressed DRM specifically nor included nutrition care, with important heterogeneity existing in terms of national regulation of selected nutritional care categories. Stakeholder opinions allowed to identify heterogeneity in the understanding of the nature and causes of DRM, confusing DRM with malnutrition caused by food insecurity and lack of food availability. Policy in the field of clinical nutrition can be addresses from two approaches: interdisciplinarity and a human rights-based approach. CONCLUSION: DRM is an unaddressed problem by health policy. Due to internal and external factor related to the health systems DRM has not been able to become a public policy issue. The study highlights the need for the development of public policy in clinical nutrition aimed at improving access to nutrition care.


Assuntos
Política de Saúde , Desnutrição , Terapia Nutricional , Humanos , América Latina/epidemiologia , Desnutrição/epidemiologia , Desnutrição/prevenção & controle , Política Nutricional , Formulação de Políticas , Pesquisa Qualitativa
6.
Rev. colomb. cancerol ; 24(4): 151-164, oct.-dic. 2020. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1289187

RESUMO

Resumen En los últimos años el estudio de los ácidos nucleicos circulantes ha tenido grandes avances en el campo de la oncología, lo que ha permitido avanzar de forma importante en las aplicaciones clínicas de la biopsia líquida en diferentes áreas como el pronóstico, la estadificación, la predicción de recurrencia, la selección y monitorización de tratamientos, entre otros. Lo anterior se debe en gran parte al desarrollo de nuevas y mejores tecnologías, algunas de las cuales incluso han sido autorizadas para el diagnóstico y seguimiento clínico de ciertos tipos de cáncer. No obstante, la utilización de la biopsia líquida como herramienta de apoyo clínico sigue siendo objeto de estudio. Debido a la importancia que ha cobrado este avance tecnológico a nivel mundial, se realizó una revisión de literatura con el fin de establecer el estado actual del uso de biopsia líquida en oncología, así como sus aplicaciones clínicas actuales, con un énfasis en Latinoamérica.


Abstract In recent years, the study of circulating nucleic acids has made great progress in the field of oncology, allowing for significant advances in clinical applications of liquid biopsy in diverse areas such as prognosis, staging, recurrence prediction, selection and monitoring of treatments, among others. This advance is largely due to the development of new and better technologies, some of which have even been validated for the diagnosis and clinical follow-up of certain types of cancer. However, the use of liquid biopsy as an additional tool in clinical oncology remains under study. Given the worldwide importance of this technological advance, a literature review was conducted to establish the current status of the use of liquid biopsy in oncology, as well as its current clinical applications, with a particular focus on Latin America.


Assuntos
Ácidos Nucleicos Livres , Biópsia Líquida , Tecnologia , Terapêutica , Previsões
7.
Oncologist ; 25(12): e1990-e1995, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32721059

RESUMO

BACKGROUND: Prostate cancer is the most incident and one of the deadliest male cancers in Latin America. Treatment for patients with metastatic castration-resistant prostate cancer (mCRPC) includes androgen receptor signaling inhibitors such as abiraterone and enzalutamide, for which androgen receptor splice variant 7 (AR-V7) has emerged as a biomarker for primary resistance. Our study sought to analyze the potential economic impact of the use of AR-V7 detection as a treatment indicator in patients with mCRPC in three Latin American countries. MATERIALS AND METHODS: A hypothetical cost prediction model for the use of noninvasive circulating tumor cell-based AR-V7 testing as a treatment indicator for patients eligible for treatment with abiraterone/enzalutamide was conducted using available information on treatment and testing costs from Mexico, Argentina, and Colombia. RESULTS: At an estimated prevalence of AR-V7 positivity of 20%, the use of upfront AR-V7 genetic testing resulted in annual net savings of $9,801,669.97, $6,390,055.75, and $3,096,780.91 in Mexico, Argentina, and Colombia, respectively. A direct relationship between AR-V7 positivity prevalence and net savings was found. CONCLUSION: The use of a noninvasive AR-V7 detection assay as a treatment indicator tool in patients eligible for treatment with abiraterone or enzalutamide in Latin America could be a cost-effective approach for the management of these patients. Additional efforts are needed to accurately determine the incidence of castration-resistant prostate cancer cases and the prevalence of AR-V7 positivity in Latin America in order to predict the potential economic benefit of its clinical use. IMPLICATIONS FOR PRACTICE: In Latin America, prostate cancer is the most frequently diagnosed cancer in men, and the burden of this disease is expected to double in this region by 2030. Noninvasive detection of androgen receptor splice variant 7 (AR-V7) is being currently validated as a predictive biomarker for benefit with androgen receptor signaling inhibitor therapy in patients with metastatic castration-resistant prostate cancer (mCRPC). This hypothetical cost-saving analysis shows that AR-V7 testing in peripheral blood of patients with CRPC eligible for treatment with abiraterone or enzalutamide might represent a cost-effective strategy to select patients who will benefit from AR-axis-directed treatment in three Latin American countries.


Assuntos
Neoplasias de Próstata Resistentes à Castração , Androstenos , Benzamidas , Biomarcadores , Colômbia/epidemiologia , Resistencia a Medicamentos Antineoplásicos , Humanos , América Latina/epidemiologia , Masculino , México/epidemiologia , Nitrilas , Feniltioidantoína , Neoplasias de Próstata Resistentes à Castração/tratamento farmacológico , Isoformas de Proteínas , Receptores Androgênicos/genética
8.
J Foot Ankle Surg ; 59(4): 733-738, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32245739

RESUMO

The mechanical superiority of suture tape augmentation associated with the Broström-Gould procedure for treating lateral ankle instability has been reported. This study aimed to describe functional results using the visual analog scale (VAS), American Orthopedic Foot & Ankle Society (AOFAS) scale, and Short Form of Quality of Life Survey (SF-36) in patients with ankle lateral instability who underwent the modified Broström-Gould repair and suture tape augmentation and to determine the recurrence of injury and the impact on the perception of its stability. This retrospective cohort study included patients with lateral ankle instability treated using the modified Broström-Gould procedure and suture tape augmentation from December 2015 to July 2018 with a 6- to 36-month follow-up. Clinical and functional results were evaluated using the 3 aforementioned scales. p ≤ 0.05 was considered statistically significant. Twenty-eight patients were included, 18 (64%) males and 10 (36%) females (mean ± standard deviation age of 33.25 ± 12.73). The mean pre- and postoperative VAS scores were 6 ± 1.18 and 0.53 ± 0.92, respectively. The average pre- and postoperative AOFAS scores were 65.89 ± 15.08 and 94.60 ± 6.88, respectively; results were excellent (91 to 100) in 18 (64%) patients and good (81 to 90) in 10 (36%). Three patients experienced recurrence of injury treated with physical therapy, and their progress was satisfactory; stability perception was maintained. Excellent clinical and functional results were demonstrated in our study using suture tape augmentation in the modified Broström-Gould procedure, which probably protects against the recurrence of lateral ankle instability.


Assuntos
Instabilidade Articular , Ligamentos Laterais do Tornozelo , Articulação do Tornozelo/cirurgia , Feminino , Humanos , Instabilidade Articular/cirurgia , Masculino , Qualidade de Vida , Estudos Retrospectivos , Suturas , Resultado do Tratamento
9.
Int J Food Sci ; 2020: 2439541, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32090061

RESUMO

The cultivation of native corn has decreased in favor of the cultivation of improved commercial corn varieties. This study seeks to evaluate the antioxidant and antibacterial potential of 36 samples of native corn germplasm from the Brunca (BR) and Chorotega (CR) regions of Costa Rica. The main parameters of comparison were the composition of antioxidant compounds, antiradical activity, and microbicidal effect. The total amount of polyphenols in the germplasm (120 mg GAE/100 g d.w.) was not related to the regions from which the samples were obtained. The overall average for antioxidant capacity was 21.20 µmol TE/g d.w. Accessions from the CR region had higher antioxidant capacity. Anthocyanin content was higher in purple accessions and undetectable in white germplasm. Antioxidant capacity was statistically related to polyphenols content (r = 0.714, p < 0.01). The most promising corn accessions in terms of nutraceutical value came from the CR region.

10.
Front Microbiol ; 10: 1276, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31281292

RESUMO

Escherichia coli cells support the nucleation and growth of ruthenium and ruthenium-palladium nanoparticles (Bio-Ru and Bio-Pd/Ru NPs). We report a method for the synthesis of these monometallic and bimetallic NPs and their application in the catalytic upgrading of 5-hydroxymethyl furfural (5-HMF) to 2,5 dimethylfuran (DMF). Examination using high resolution transmission electron microscopy with energy dispersive X-ray microanalysis (EDX) and high angle annular dark field (HAADF) showed Ru NPs located mainly at the cell surface using Ru(III) alone but small intracellular Ru-NPs (size ∼1-2 nm) were visible only in cells that had been pre-"seeded" with Pd(0) (5 wt%) and loaded with equimolar Ru. Pd(0) NPs were distributed between the cytoplasm and cell surface. Cells bearing 5% Pd/5% Ru showed some co-localization of Pd and Ru but chance associations were not ruled out. Cells loaded to 5 wt% Pd/20 wt% Ru showed evidence of core-shell structures (Ru core, Pd shell). Examination of this cell surface material using X-ray photoelectron spectroscopy (XPS) showed Pd(0) and Pd(II) and Ru(IV) and Ru(III), with confirmation by analysis of bulk material using X-ray absorption near edge structure (XANES) and extended X-ray absorption fine structure (EXAFS) analyses. Both Bio-Ru NPs and Bio-Pd/Ru NPs were active in the conversion of 5-HMF into 2,5-DMF but commercial Ru on carbon catalyst outperformed 5 wt% bio-Ru by fourfold. While 5 wt% Pd/20 wt% Ru achieved 20% yield of DMF the performance of the 5 wt% Pd/5 wt% Ru bio-catalyst was higher and comparable to the commercial 5 wt% Ru/C catalyst in a test reaction using commercial 5-HMF (>50% selectivity). 5-HMF was prepared by thermochemical hydrolysis of starch and cellulose with solvent extraction of 5-HMF into methyltetrahydrofuran (MTHF). Here, with MTHF as the reaction solvent the commercial Ru/C catalyst had little activity (100% conversion, negligible selectivity to DMF) whereas the 5 wt% Pd/5 wt% Ru bio-bimetallic gave 100% conversion and 14% selectivity to DMF from material extracted from hydrolyzates. The results indicate a potential green method for realizing increased energy potential from biomass wastes as well as showing a bio-based pathway to manufacturing a scarcely described bimetallic material.

11.
Rev. Fac. Med. (Bogotá) ; 67(2): 241-245, Apr.-June 2019. tab, graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1020402

RESUMO

Resumen Introducción. Dado el hallazgo de enfermedades raras de herencia recesiva en un número mayor de pacientes al esperado, estudios recientes han sugerido la ]presencia de un aislado poblacional en la vereda de Runta, en el departamento de Boyacá, Colombia. Esto indica la probabilidad de una tasa de consanguinidad aumentada en dicha población. Objetivos. Determinar los parámetros de endogamia mediante isonimia para analizar la estructura poblacional de la vereda Runta y ayudar a elucidar las causas de la aparición de estas enfermedades. Materiales y métodos. Se establecieron seis parámetros indicativos de estructura poblacional basados en los apellidos registrados en la base de datos del Sistema de Identificación y Selección de Potenciales Beneficiarios de Programas Sociales de los habitantes de Runta. Resultados. Se obtuvo coeficiente de endogamia (θii) de 0.0083, alfa de Fisher (α) de 30.0447 y estimativos A, B y C de 0.0379, 0.3413 y 0.4669, respectivamente. La mayoría de los individuos se encontraron agrupados en los apellidos más frecuentes de la población. Los parámetros de isonimia en Runta son similares a los de comunidades aisladas descritas en la literatura. Conclusión. Los resultados soportan la hipótesis previa de que se está ante un aislado genético en una población muy cercana a la capital del departamento de Boyacá.


Abstract Introduction: Recent studies have suggested the presence of a genetic isolate in the village of Runta, located in the department of Boyacá, Colombia, given the finding of a larger number of patients with rare diseases than expected for this population. This finding indicates the probability of an increased rate of inbreeding in this community. Objectives: To determine inbreeding parameters using isonymy to analyze the population structure of this village and to help elucidate the causes of these diseases. Materials and methods: Six parameters indicative of population structure were established based on the surnames registered in the database of the Potential Beneficiaries of Social Programs Identification and Selection System of the inhabitants of Runta. Results: Results showed an inbreeding coefficient (θii) of 0.0083, Fisher's alpha (α) of 30.0447 and A, B and C estimates of 0.0379, 0.3413 and 0.4669, respectively. Most individuals had the most popular surnames of the village, while isonymy parameters in Runta were found to be similar to those of isolated communities previously described in the literature. Conclusion: These results support the hypothesis that there is indeed a genetic isolate located near the capital of the department of Boyacá.

12.
Front Microbiol ; 10: 970, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31134018

RESUMO

Biogas-energy is marginally profitable against the "parasitic" energy demands of processing biomass. Biogas involves microbial fermentation of feedstock hydrolyzate generated enzymatically or thermochemically. The latter also produces 5-hydroxymethyl furfural (5-HMF) which can be catalytically upgraded to 2, 5-dimethyl furan (DMF), a "drop in fuel." An integrated process is proposed with side-stream upgrading into DMF to mitigate the "parasitic" energy demand. 5-HMF was upgraded using bacterially-supported Pd/Ru catalysts. Purpose-growth of bacteria adds additional process costs; Pd/Ru catalysts biofabricated using the sulfate-reducing bacterium (SRB) Desulfovibrio desulfuricans were compared to those generated from a waste consortium of acidophilic sulfidogens (CAS). Methyl tetrahydrofuran (MTHF) was used as the extraction-reaction solvent to compare the use of bio-metallic Pd/Ru catalysts to upgrade 5-HMF to DMF from starch and cellulose hydrolyzates. MTHF extracted up to 65% of the 5-HMF, delivering solutions, respectively, containing 8.8 and 2.2 g 5-HMF/L MTHF. Commercial 5% (wt/wt) Ru-carbon catalyst upgraded 5-HMF from pure solution but it was ineffective against the hydrolyzates. Both types of bacterial catalyst (5wt%Pd/3-5wt% Ru) achieved this, bio-Pd/Ru on the CAS delivering the highest conversion yields. The yield of 5-HMF from starch-cellulose thermal treatment to 2,5 DMF was 224 and 127 g DMF/kg extracted 5-HMF, respectively, for CAS and D. desulfuricans catalysts, which would provide additional energy of 2.1 and 1.2 kWh/kg extracted 5-HMF. The CAS comprised a mixed population with three patterns of metallic nanoparticle (NP) deposition. Types I and II showed cell surface-localization of the Pd/Ru while type III localized NPs throughout the cell surface and cytoplasm. No metallic patterning in the NPs was shown via elemental mapping using energy dispersive X-ray microanalysis but co-localization with sulfur was observed. Analysis of the cell surfaces of the bulk populations by X-ray photoelectron spectroscopy confirmed the higher S content of the CAS bacteria as compared to D. desulfuricans and also the presence of Pd-S as well as Ru-S compounds and hence a mixed deposit of PdS, Pd(0), and Ru in the form of various +3, +4, and +6 oxidation states. The results are discussed in the context of recently-reported controlled palladium sulfide ensembles for an improved hydrogenation catalyst.

13.
Qatar Med J ; 2019(3): 18, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31903324

RESUMO

Objective: This study aimed to determine the association between venous-arterial CO2 difference (Pv-aCO2) and clinical outcomes of interest in children with severe sepsis and septic shock. Design: An analytical observational study of a prospective cohort was conducted. Setting: The study was carried out from January 2015 to January 2018 in the pediatric intensive care unit of a referral hospital. Materials and methods: Of a total of 1159 patients who were admitted to pediatric critical care, 375 had severe sepsis and septic shock, of which 67 fulfilled the inclusion criteria. Arterial and venous gases were drawn simultaneously with a transthoracic echocardiogram, Pv-aCO2, and other measures of tissue perfusion such as arterial lactate, venous, and evolution to multiple organ failure. Measurements and main results: Half (53.7%) of the patients were under 24 months old, with a slight predominance of male patients. The main site of infection was the lungs in 56% of the cases, with a 91.2% survival rate. Patients who died had a higher venous lactate level (interquartile range 16.2-33.6, p = 0.02). However, there was no correlation between myocardial dysfunction seen on echocardiogram and a Pv-aCO2 greater than 6 mm Hg in children with severe sepsis and septic shock (r = 0.13). Pv-aCO2 and central venous saturation had low sensitivity to detect multiple organ failure and poor correlation with the number of compromised systems (r = 0.8). Conclusion: Pv-aCO2 was not associated with myocardial dysfunction, measured by echocardiogram, in children with severe sepsis and septic shock. It also did not correlate with the number of organs involved or mortality.

14.
Front Oncol ; 9: 1429, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31921681

RESUMO

Purpose: Hereditary Breast and Ovarian Cancer (HBOC) syndrome is responsible for ~5-10% of all diagnosed breast and ovarian cancers. Breast cancer is the most common malignancy and the leading cause of cancer-related mortality among women in Latin America (LA). The main objective of this study was to develop a comprehensive understanding of the genomic epidemiology of HBOC throughout the establishment of The Latin American consortium for HBOC-LACAM, consisting of specialists from 5 countries in LA and the description of the genomic results from the first phase of the study. Methods: We have recruited 403 individuals that fulfilled the criteria for HBOC from 11 health institutions of Argentina, Colombia, Guatemala, Mexico and Peru. A pilot cohort of 222 individuals was analyzed by NGS gene panels. One hundred forty-three genes were selected on the basis of their putative role in susceptibility to different hereditary cancers. Libraries were sequenced in MiSeq (Illumina, Inc.) and PGM (Ion Torrent-Thermo Fisher Scientific) platforms. Results: The overall prevalence of pathogenic variants was 17% (38/222); the distribution spanned 14 genes and varied by country. The highest relative prevalence of pathogenic variants was found in patients from Argentina (25%, 14/57), followed by Mexico (18%, 12/68), Guatemala (16%, 3/19), and Colombia (13%, 10/78). Pathogenic variants were found in BRCA1 (20%) and BRCA2 (29%) genes. Pathogenic variants were found in other 12 genes, including high and moderate risk genes such as MSH2, MSH6, MUTYH, and PALB2. Additional pathogenic variants were found in HBOC unrelated genes such as DCLRE1C, WRN, PDE11A, and PDGFB. Conclusion: In this first phase of the project, we recruited 403 individuals and evaluated the germline genetic alterations in an initial cohort of 222 patients among 4 countries. Our data show for the first time in LA the distribution of pathogenic variants in a broad set of cancer susceptibility genes in HBOC. Even though we used extended gene panels, there was still a high proportion of patients without any detectable pathogenic variant, which emphasizes the larger, unexplored genetic nature of the disease in these populations.

15.
Estud. psicol. (Natal) ; 23(3): 317-324, jul./set. 2018.
Artigo em Português | LILACS, Index Psicologia - Periódicos | ID: biblio-1008706

RESUMO

O artigo apresenta os resultados de uma pesquisa centrada na experiência traumática de familiares de vítimas de desaparecimento forçado no contexto do conflito armado colombiano, focando nas tentativas de produção de sentido sobre o desaparecimento do ente querido e nas diversas formas em que a experiência violenta se relaciona com a percepção da própria saúde, do corpo e dos processos de saúde/doença. Participaram do estudo 16 mulheres, atendidas por um programa de apoio às vítimas da violência. Foram utilizadas distintas técnicas de produção de informação: entrevistas em profundidade e grupos de discussão. A análise do material discursivo permitiu concluir que para as participantes da pesquisa os mais variados agravamentos de saúde estão relacionados com o desaparecimento do ente querido. Ao mesmo tempo, o adoecimento é atribuído e associado à experiência violenta como uma manifestação da lembrança carregada de angustia do ente querido que sobrevive no psiquismo (AU).


Meanings of health and illness in the relatives' experience of forced disappearances in the Colombian armed conflict. This article presents the results of a research centered on the traumatic experience of relatives of victims of forced disappearance in the context of the Colombian armed conflict, focusing on attempts to make sense of the disappearance of the loved ones and the diverse forms in which the violent experience relates with the perception of one's own health, body and health/illness processes. The study was attended by 16 women and different techniques of information production were used: in-depth interviews and discussion groups. The analysis of the discursive material has led to the conclusion that for the participants of the research the most varied health aggravations are related to the disappearance of the loved ones. At the same time, the illness is attributed and associated to the violent experience as well as a manifestation of the anxiety-laden memory of the loved ones in their psyche (AU).


Sentidos de salud y enfermedad en la experiencia de familiares de desaparecidos forzados del conflicto armado colombiano. Este artículo presenta los resultados de una investigación centrada en la experiencia traumática de familiares de víctimas de desaparición forzada, en el contexto del conflicto armado colombiano. Se enfoca en los intentos de producción de sentido sobre este acontecimiento y en las diversas formas en que la experiencia violenta se relaciona con la percepción de la propia salud, del cuerpo y de los procesos de salud/enfermedad. Participaron del estudio 16 mujeres, atendidas por un programa de apoyo a víctimas de violencia. Fueron utilizadas dos técnicas de producción de información: entrevistas en profundidad y grupos de discusión. El análisis del material discursivo permitió concluir que, para las participantes del estudio, las distintas afecciones de salud están relacionadas con la desaparición de un ser querido. Al mismo tiempo, las enfermedades son atribuidas y asociadas a la experiencia violenta como una manifestación del recuerdo angustioso, del ser querido que sobrevive en el psiquismo (AU).


Assuntos
Humanos , Feminino , Estresse Psicológico , Violência/psicologia , Colômbia , Conflitos Armados/psicologia , Trauma Psicológico/psicologia , Psicologia Social , Saúde Mental , Entrevista , Pesquisa Qualitativa
16.
Sci Rep ; 7(1): 11784, 2017 09 18.
Artigo em Inglês | MEDLINE | ID: mdl-28924156

RESUMO

Osteoporotic medication after hip fracture is widely recommended by clinical practice guidelines, and medication adherence is essential to meet clinical trial risk reduction figures in the real world. We assessed primary and secondary non-adherence to osteoporosis medications in patients discharged following a hip fracture and identified factors associated with secondary non-adherence. From a population-based retrospective cohort of 19,405 patients aged 65 years and over discharged from a hip fracture in the region of Valencia (Spain) from January 1, 2008 and June 30, 2012, we followed, over a minimum of 365 days, 4,856 patients with at least one osteoporotic medication prescribed within the first six months after discharge. Less than one third of the patients discharged alive after a hip fracture received osteoporotic treatment. Primary non-adherence among naïve patients was low. However, long-term secondary adherence measured by Proportion of Days Covered with medication (PDC) and persistence was largely suboptimal, with naïve users having worse results than experienced patients. Secondary non-adherence was associated with primary non-adherence and age, dementia or sedative treatments for naïve users and with being male, being older than 85 and having dementia for experienced users. Three quarters of naïve users and two thirds of experienced users had interrupted treatment at 48 months.


Assuntos
Fraturas do Quadril/mortalidade , Adesão à Medicação , Modelos Biológicos , Osteoporose/mortalidade , Fraturas por Osteoporose/mortalidade , Idoso , Idoso de 80 Anos ou mais , Feminino , Fraturas do Quadril/prevenção & controle , Humanos , Osteoporose/prevenção & controle , Fraturas por Osteoporose/prevenção & controle , Valor Preditivo dos Testes , Estudos Retrospectivos , Espanha/epidemiologia
17.
Microb Biotechnol ; 10(5): 1120-1127, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28834420

RESUMO

Biological production of hydrogen is poised to become a significant player in the future energy mix. This review highlights recent advances and bottlenecks in various approaches to biohydrogen processes, often in concert with management of organic wastes or waste CO2 . Some key bottlenecks are highlighted in terms of the overall energy balance of the process and highlighting the need for economic and environmental life cycle analyses with regard also to socio-economic and geographical issues.


Assuntos
Bactérias/metabolismo , Hidrogênio/metabolismo , Bactérias/química , Fontes de Energia Bioelétrica/microbiologia , Biocombustíveis/análise , Fermentação , Hidrogênio/análise , Resíduos/análise
18.
Nutr Hosp ; 32(2): 722-31, 2015 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-26268104

RESUMO

INTRODUCTION: although supplementation of specific micronutrients may improve immunologic factors, few studies about the combination of micronutrients with plant extracts on the occurrence of acute respiratory infections (ARI) have been published. OBJECTIVES: to assess the effect of a nutritional supplement with micronutrients and plant extracts on the incidence of ARI in susceptible adults between January and April, 2012. METHODS: a randomized, double-blind, parallel, placebo- controlled clinical trial was performed. Participants were adults susceptible to ARI who were healthy at the time of evaluation, signed informed consent forms and were not taking medication. They completed a medical history; weight, height, vital signs and laboratory analyses were assessed. Subjects were randomly assigned for consumption of the supplement or a placebo, for a 90 days period. Subjects made daily diary entries indicating the presence ARI symptoms. Those who became ill notified researchers and the attending physician confirmed the presence of an infection. Fisher's exact test was used to compare the proportion of ill subjects between groups. Relative risk and risk difference were also calculated (p < 0.05 significant). RESULTS: of 59 included subjects, 45 (25 women) completed the study (21 in the supplemented group and 24 in the placebo group). There were no significant differences at baseline between groups. After the intervention, the supplemented group had a lower incidence of ARI compared with the placebo group (57.1% vs. 91.7%, p = 0.013, RR = 0.62, 95%CI 0.42, 0.92). DISCUSSION: the consumption of a supplement with vitamins, minerals and plant extracts may decrease the incidence of ARI in susceptible adults.


Introducción: aunque la suplementación de micronutrientes específicos puede mejorar determinados factores inmunológicos, han sido publicados pocos estudios sobre la combinación de micronutrientes con extractos herbales y la incidencia de infecciones respiratorias agudas (ARI) . Objetivos: evaluar el efecto de un suplemento alimenticio con micronutrientes y extractos herbales en la incidencia de ARI en adultos susceptibles, en enero-abril de 2012. Métodos: se realizó un ensayo clínico paralelo, aleatorizado, doble ciego, controlado con placebo. Se incluyeron adultos susceptibles a ARI, sanos en el momento de la evaluación, que firmaron un consentimiento informado y que no tomaban medicamentos. Completaron una historia clínica y se evaluó: peso, talla, signos vitales y de laboratorio. Se asignaron aleatoriamente para consumir durante 90 días el suplemento o un placebo. Los sujetos registraron diariamente si presentaban o no síntomas de ARI en un diario. En caso de enfermedad, se lo notificaron a los investigadores y el médico responsable confirmó la presencia de infección. Se utilizó la prueba exacta de Fisher para comparar la proporción de enfermos entre los grupos y se calculó el riesgo relativo y la diferencia de riesgos (p < 0,05 significativa). Resultados: de 59 sujetos incluidos, 45 (25 mujeres) completaron el estudio (21 del grupo suplementado y 24 del placebo). No hubo diferencias significativas al inicio entre grupos. Al finalizar la intervención, el grupo suplementado tuvo una menor incidencia de ARI en comparación con el placebo (57,1% vs 91,7%, p = 0,013, RR = 0,62, IC95% 0,42, 0,92). Discusión: en conclusión, el consumo de un suplemento a base de micronutrientes y extractos herbales puede disminuir la incidencia de ARI en adultos susceptibles.


Assuntos
Suplementos Nutricionais , Suscetibilidade a Doenças , Infecções Respiratórias/epidemiologia , Doença Aguda , Adulto , Biomarcadores , Pesos e Medidas Corporais , Exercício Físico , Feminino , Seguimentos , Humanos , Incidência , Masculino , Valor Nutritivo , Infecções Respiratórias/diagnóstico , Infecções Respiratórias/prevenção & controle , Fatores de Risco , Adulto Jovem
19.
Nutr. hosp ; 32(2): 722-731, ago. 2015. tab
Artigo em Inglês | IBECS | ID: ibc-140007

RESUMO

Introduction: although supplementation of specific micronutrients may improve immunologic factors, few studies about the combination of micronutrients with plant extracts on the occurrence of acute respiratory infections (ARI) have been published. Objectives: to assess the effect of a nutritional supplement with micronutrients and plant extracts on the incidence of ARI in susceptible adults between January and April, 2012. Methods: a randomized, double-blind, parallel, placebo-controlled clinical trial was performed. Participants were adults susceptible to ARI who were healthy at the time of evaluation, signed informed consent forms and were not taking medication. They completed a medical history; weight, height, vital signs and laboratory analyses were assessed. Subjects were randomly assigned for consumption of the supplement or a placebo, for a 90 days period. Subjects made daily diary entries indicating the presence ARI symptoms. Those who became ill notified researchers and the attending physician confirmed the presence of an infection. Fisher’s exact test was used to compare the proportion of ill subjects between groups. Relative risk and risk difference were also calculated (p< 0.05 significant). Results: of 59 included subjects, 45 (25 women) completed the study (21 in the supplemented group and 24 in the placebo group). There were no significant differences at baseline between groups. After the intervention, the supplemented group had a lower incidence of ARI compared with the placebo group (57.1% vs. 91.7%, p=0.013, RR=0.62, 95%CI 0.42, 0.92). Discussion: the consumption of a supplement with vitamins, minerals and plant extracts may decrease the incidence of ARI in susceptible adults (AU)


Introducción: aunque la suplementación de micronutrientes específicos puede mejorar determinados factores inmunológicos, han sido publicados pocos estudios sobre la combinación de micronutrientes con extractos herbales y la incidencia de infecciones respiratorias agudas (ARI). Objetivos: evaluar el efecto de un suplemento alimenticio con micronutrientes y extractos herbales en la incidencia de ARI en adultos susceptibles, en enero-abril de 2012. Métodos: se realizó un ensayo clínico paralelo, aleatorizado, doble ciego, controlado con placebo. Se incluyeron adultos susceptibles a ARI, sanos en el momento de la evaluación, que firmaron un consentimiento informado y que no tomaban medicamentos. Completaron una historia clínica y se evaluó: peso, talla, signos vitales y de laboratorio. Se asignaron aleatoriamente para consumir durante 90 días el suplemento o un placebo. Los sujetos registraron diariamente si presentaban o no síntomas de ARI en un diario. En caso de enfermedad, se lo notificaron a los investigadores y el médico responsable confirmó la presencia de infección. Se utilizó la prueba exacta de Fisher para comparar la proporción de enfermos entre los grupos y se calculó el riesgo relativo y la diferencia de riesgos (p < 0,05 significativa). Resultados: de 59 sujetos incluidos, 45 (25 mujeres) completaron el estudio (21 del grupo suplementado y 24 del placebo). No hubo diferencias significativas al inicio entre grupos. Al finalizar la intervención, el grupo suplementado tuvo una menor incidencia de ARI en comparación con el placebo (57,1% vs 91,7%, p=0,013, RR=0,62, IC95% 0,42, 0,92). Discusión: en conclusión, el consumo de un suplemento a base de micronutrientes y extractos herbales puede disminuir la incidencia de ARI en adultos susceptibles (AU)


Assuntos
Adulto , Feminino , Humanos , Masculino , Suplementos Nutricionais , Infecções Respiratórias/dietoterapia , Infecções Respiratórias/epidemiologia , Infecções Respiratórias/prevenção & controle , Micronutrientes/uso terapêutico , Medicina Herbária/métodos , Medicina Herbária/tendências , Método Duplo-Cego , Consentimento Livre e Esclarecido , 28423
20.
Artigo em Português | LILACS, COLNAL | ID: biblio-994504

RESUMO

Fundamentado em uma perspectiva histórico-cultural da Psicologia Social, o presente estudo teve como objetivo descrever os sentidos a respeito da condição de vítimas, elaborados por familiares de desaparecidos forçados no conflito armado colombiano. A pesquisa foi desenvolvida a partir de um desenho qualitativo de estudo de casos múltiplos, em que os participantes (familiares de desaparecidos forçados) foram escolhidos com um critério intencional, guiado pela teoria. Foram realizadas 18 entrevistas em profundidade, 3 grupos de discussão e foi aplicado um instrumento de complementação de frases a todos os entrevistados. As técnicas de produção de informação foram elaboradas com base em categorias orientadoras que procuravam abranger diferentes zonas de sentido. A análise dos dados foi realizada a partir de uma lógica abdutiva, privilegiando o diálogo entre o empírico e o teórico no percurso da identificação de indicadores de sentido, zonas de sentido e configurações de sentido. Para tal fim, a informação coletada foi integrada em uma unidade hermenêutica no programa Atlas-ti 6.2 para análise de dados qualitativos. Identificou-se que os familiares de desaparecidos forçados constroem sentidos contraditórios a respeito da condição de vítimas. Ser vítima é uma categoria social que permite o reconhecimento e a identificação, mas ao mesmo tempo é rejeitada porque carrega um estigma e gera horror.


Sobre la base de una perspectiva histórico-cultural de la psicología social, el presente estudio tuvo como objetivo describir los sentidos sobre la condición de las víctimas, construidos por familiares de los desaparecidos forzados del conflicto armado colombiano. La investigación fue desarrollada a partir de un estudio de casos múltiples cualitativo. Los participantes fueron familiares de desaparecidos forzados del conflicto armado colombiano y fueron escogidos según un criterio intencional teórico. Se realizaron 18 entrevistas en profundidad, 3 grupos focales y se aplicó un instrumento de complementación de frases. Las técnicas de producción de información fueron elaboradas sobre la base de categorías rectoras que cubrían diferentes áreas de significación. El análisis de datos se realizó a partir de una lógica abductiva, favoreciendo el diálogo entre lo empírico y lo teórico para la identificación de indicadores, zonas y configuraciones de sentido. Para este fin, la información de su condición de las víctimas. Ser víctima es una categoría social en torno de la que se puede cristalizar la identidad, pero al mismo tiempo es rechazada debido a recogida se integró en una unidad hermenéutica en el programa Atlas -ti 6.2 para el análisis de datos cualitativos. Se encontró que los familiares de los desaparecidos forzados construyen sentidos contradictorios acerca que produce un estigma y genera horror.


Based on a historical- cultural perspective of social psychology, this study aimed to describe the meanings about the condition of the victims, built by family members of the Colombian armed conflict forced disappeared. The research was carried out based on a qualitative study Multiple case methodology. Participants were relatives of forced missing of the Colombian armed conflict and were chosen according to the intentional theory criterion. 18 in-depth interviews were conducted, 3 focus groups and a means of complementing sentences were applied. Production techniques of information were drawn on the basis of governing categories covering different areas of significance. Data analysis was performed from an abductive logic, fostering dialogue between the empirical and the theoretical framework for identifying indicators, areas and configurations of meaning. To this end, the information gathered was integrated into a hermeneutic unit in the Atlas -ti 6.2 for qualitative data analysis program. It was concluded that the relatives of the missing constituted contradictory meanings about their condition of victims. Being a victim is a social category around which the identity can be crystallized, but at the same time is one of rejection because it produces, creates a stigma and horror.


Assuntos
Humanos , Vítimas de Crime , Psicologia Social , Violência/psicologia , Conflitos Armados/psicologia
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