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1.
R Soc Open Sci ; 11(8): 230930, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39169961

RESUMEN

Although it is well known that humans substantially altered the Malagasy ecosystems, the timing of the human arrival as well as the extension of their environmental impact is yet not well understood. This research aims to study the influence of early human impact and climate change on rainforests and wildlife in northern Madagascar during the past millennia. Results obtained from the lake sediment in a montane environment showed significant changes in vegetation within the lake catchment associated with a major drought that started approximately 1100 years ago. Human impact, revealed by fires, began at roughly the same time and occurred outside the lake catchment. Although this does not dismiss the impacts that humans had at a regional scale, this result demonstrates that the late Holocene natural drought also significantly impacted the ecosystems independently of anthropogenic activities. At a regional scale, a review of species demographic history revealed a substantial number of population bottlenecks during the last millennia, probably resulting from this combination of human-related impact and natural climate changes. This research highlights the importance of a multi-site and multi-proxy comparison for deciphering the nature and succession of environmental changes.

2.
Front Endocrinol (Lausanne) ; 15: 1366500, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38911040

RESUMEN

Background: The Thr92Ala-DIO2 polymorphism has been associated with clinical outcomes in hospitalized patients with COVID-19 and neuropsychiatric diseases. This study examines the impact of the Thr92Ala-DIO2 polymorphism on neuropsychological symptoms, particularly depressive symptoms, in patients who have had moderate to severe SARS-CoV-2 infection and were later discharged. Methods: Our prospective cohort study, conducted from June to August 2020, collected data from 273 patients hospitalized with COVID-19. This included thyroid function tests, inflammatory markers, hematologic indices, and genotyping of the Thr92Ala-DIO2 polymorphism. Post-discharge, we followed up with 68 patients over 30 to 45 days, dividing them into depressive (29 patients) and non-depressive (39 patients) groups based on their Beck Depression Inventory scores. Results: We categorized 68 patients into three groups based on their genotypes: Thr/Thr (22 patients), Thr/Ala (41 patients), and Ala/Ala (5 patients). Depressive symptoms were less frequent in the Thr/Ala group (29.3%) compared to the Thr/Thr (59.1%) and Ala/Ala (60%) groups (p = 0.048). The Thr/Ala heterozygous genotype correlated with a lower risk of post-COVID-19 depression, as shown by univariate and multivariate logistic regression analyses. These analyses, adjusted for various factors, indicated a 70% to 81% reduction in risk. Conclusion: Our findings appear to be the first to show that heterozygosity for Thr92Ala-DIO2 in patients with COVID-19 may protect against post-COVID-19 depression symptoms up to 2 months after the illness.


Asunto(s)
COVID-19 , Depresión , Alta del Paciente , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , COVID-19/genética , COVID-19/psicología , COVID-19/epidemiología , COVID-19/complicaciones , Depresión/genética , Depresión/epidemiología , Genotipo , Yoduro Peroxidasa/genética , Yodotironina Deyodinasa Tipo II , Polimorfismo de Nucleótido Simple , Estudios Prospectivos , SARS-CoV-2/genética
3.
Eur Thyroid J ; 13(4)2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-38869458

RESUMEN

Introduction: The type 2 deiodinase and its Thr92Ala-DIO2 polymorphism have been linked to clinical outcomes in acute lung injury and coronavirus disease 2019 (COVID-19). Objective: The objective was to identify a potential association between Thr92Ala-DIO2 polymorphism and body composition (appendicular muscle mass, myosteatosis, and fat distribution) and to determine whether they reflect the severity or mortality associated with the disease. Methods: In this prospective cohort study (June-August 2020), 181 patients hospitalized with moderate-to-severe COVID-19 underwent a non-contrast-enhanced computed tomography (CT) of the thorax to assess body composition, laboratory tests, and genotyping for the Thr92Ala-DIO2 polymorphism. Results: In total, 181 consecutive patients were stratified into three subgroups according to the genotype: Thr/Thr (n = 64), Thr/Ala (n = 96), and Ala/Ala (n = 21). The prevalence of low muscle area (MA) (< 92 cm²) was 52.5%. Low MA was less frequent in Ala/Thr patients (44.8%) than in Thr/Thr (60.9%) or Ala/Ala patients (61.9%) (P = 0.027). Multivariate logistic regression analysis confirmed that the Thr/Ala allele was associated with a reduced risk of low MA (41% to 69%) and myosteatosis (62% to 72%) compared with Thr/Thr + Ala/Ala (overdominant model). Kaplan-Meier curves showed that patients with low muscle mass and homozygosity had lower survival rates than the other groups. Notably, the heterozygotes with MA ≥92 cm² exhibited the best survival rate. Conclusion: Thr92Ala-DIO2 heterozygosity is associated with increased skeletal MA and less myosteatosis in patients with COVID-19. The protective effect of Thr92Ala-DIO2 heterozygosity on COVID-19 mortality is restricted to patients with reduced MA.


Asunto(s)
COVID-19 , Músculo Esquelético , SARS-CoV-2 , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Composición Corporal/genética , COVID-19/genética , COVID-19/diagnóstico por imagen , Genotipo , Heterocigoto , Músculo Esquelético/diagnóstico por imagen , Músculo Esquelético/patología , Estudios Prospectivos , Tomografía Computarizada por Rayos X
4.
Sci Rep ; 14(1): 1960, 2024 01 23.
Artículo en Inglés | MEDLINE | ID: mdl-38263429

RESUMEN

Humans are regularly cited as the main driver of current biodiversity extinction, but the impact of historic volcanic activity is often overlooked. Pre-human evidence of wildlife abundance and diversity are essential for disentangling anthropogenic impacts from natural events. Réunion Island, with its intense and well-documented volcanic activity, endemic biodiversity, long history of isolation and recent human colonization, provides an opportunity to disentangle these processes. We track past demographic changes of a critically endangered seabird, the Mascarene petrel Pseudobulweria aterrima, using genome-wide SNPs. Coalescent modeling suggested that a large ancestral population underwent a substantial population decline in two distinct phases, ca. 125,000 and 37,000 years ago, coinciding with periods of major eruptions of Piton des Neiges. Subsequently, the ancestral population was fragmented into the two known colonies, ca. 1500 years ago, following eruptions of Piton de la Fournaise. In the last century, both colonies declined significantly due to anthropogenic activities, and although the species was initially considered extinct, it was rediscovered in the 1970s. Our findings suggest that the current conservation status of wildlife on volcanic islands should be firstly assessed as a legacy of historic volcanic activity, and thereafter by the increasing anthropogenic impacts, which may ultimately drive species towards extinction.


Asunto(s)
Animales Salvajes , Efectos Antropogénicos , Animales , Humanos , Biodiversidad , Polimorfismo de Nucleótido Simple , Reunión
5.
Am J Biol Anthropol ; 183(1): 60-78, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37607125

RESUMEN

OBJECTIVES: The investigation of morphological variation in animals is widely used in taxonomy, ecology, and evolution. Using large datasets for meta-analyses has dramatically increased, raising concerns about dataset compatibilities and biases introduced by contributions of multiple researchers. MATERIALS AND METHODS: We compiled morphological data on 13 variables for 3073 individual mouse lemurs (Cheirogaleidae, Microcebus spp.) from 25 taxa and 153 different sampling locations, measured by 48 different researchers. We introduced and applied a filtering pipeline and quantified improvements in data quality (Shapiro-Francia statistic, skewness, and excess kurtosis). The filtered dataset was then used to test for genus-wide sexual size dimorphism and the applicability of Rensch's, Allen's, and Bergmann's rules. RESULTS: Our pipeline reduced inter-observer bias (i.e., increased normality of data distributions). Inter-observer reliability of measurements was notably variable, highlighting the need to reduce data collection biases. Although subtle, we found a consistent pattern of sexual size dimorphism across Microcebus, with females being the larger (but not heavier) sex. Sexual size dimorphism was isometric, providing no support for Rensch's rule. Variations in tail length but not in ear size were consistent with the predictions of Allen's rule. Body mass and length followed a pattern contrary to predictions of Bergmann's rule. DISCUSSION: We highlighted the usefulness of large multi-researcher datasets for testing ecological hypotheses after correcting for inter-observer biases. Using genus-wide tests, we outlined generalizable patterns of morphological variability across all mouse lemurs. This new methodological toolkit aims to facilitate future large-scale morphological comparisons for a wide range of taxa and applications.


Asunto(s)
Cheirogaleidae , Animales , Femenino , Humanos , Tamaño Corporal , Variaciones Dependientes del Observador , Exactitud de los Datos , Reproducibilidad de los Resultados
6.
Front Cell Infect Microbiol ; 13: 1261074, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37860064

RESUMEN

Leishmaniasis is a widespread group of infectious diseases that significantly impact global health. Despite high prevalence, leishmaniasis often receives inadequate attention in the prioritization of measures targeting tropical diseases. The causative agents of leishmaniasis are protozoan parasites of the Leishmania genus, which give rise to a diverse range of clinical manifestations, including cutaneous and visceral forms. Visceral leishmaniasis (VL), the most severe form, can be life-threatening if left untreated. Parasites can spread systemically within the body, infecting a range of organs, such as the liver, spleen, bone marrow and lymph nodes. Natural reservoirs for these protozoa include rodents, dogs, foxes, jackals, and wolves, with dogs serving as the primary urban reservoir for Leishmania infantum. Dogs exhibit clinical and pathological similarities to human VL and are valuable models for studying disease progression. Both human and canine VL provoke clinical symptoms, such as organ enlargement, fever, weight loss and abnormal gamma globulin levels. Hematologic abnormalities have also been observed, including anemia, leukopenia with lymphocytosis, neutropenia, and thrombocytopenia. Studies in dogs have linked these hematologic changes in peripheral blood to alterations in the bone marrow. Mouse models of VL have also contributed significantly to our understanding of the mechanisms underlying these hematologic and bone marrow abnormalities. This review consolidates information on hematological and immunological changes in the bone marrow of humans, dogs, and mice infected with Leishmania species causing VL. It includes findings on the role of bone marrow as a source of parasite persistence in internal organs and VL development. Highlighting gaps in current knowledge, the review emphasizes the need for future research to enhance our understanding of VL and identify potential targets for novel diagnostic and therapeutic approaches.


Asunto(s)
Enfermedades de los Perros , Leishmania infantum , Leishmaniasis Visceral , Leishmaniasis , Animales , Perros , Humanos , Ratones , Leishmaniasis Visceral/veterinaria , Leishmaniasis Visceral/diagnóstico , Médula Ósea/parasitología , Médula Ósea/patología , Leishmaniasis/patología , Piel/patología , Enfermedades de los Perros/epidemiología
7.
Immunobiology ; 228(5): 152724, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37549468

RESUMEN

PDE4D (Phosphodiesterase 4D) gene encodes a hydrolase of cyclic AMP. PDE4D genetic variants have been associated with asthma susceptibility. Therefore, this study aimed to investigate the association between PDE4D variants (and haplotypes) with asthma and atopy in a Brazilian population. The study comprised 1,246 unrelated participants from the SCAALA (Social Changes Asthma and Allergy in Latin America) program. Genotyping was performed using the Illumina 2.5 Human Omni bead chip. Multivariate logistic regression was used to investigate the association between PDE4D variants and asthma/atopy phenotypes in PLINK 1.09 software. Twenty-four SNVs in PDE4D were associated with atopy or asthma. The rs6898082 (A) variant increased asthma susceptibility (OR 2.76; CI 99% 1.26-6.03) and was also related to a greater PDE4D expression in the GTEx database. Also, the variant rs6870632 was further associated with asthma in meta-analysis with a replication cohort. In addition, the variants rs75699812 (C), rs8007656 (G), and rs958851 (T) were positively associated with atopy. Moreover, these variants formed an atopy risk haplotype (OR 1.82; CI 99% 1.15-2.88). Also, these variants were related to lower levels of IL-10. Functional in silico assessment showed that some PDE4D SNVs may have an impact on gene regulation and expression. Variants in the PDE4D are positively associated with asthma and allergy markers. It is possible that these variants lead to alteration in PDE4D expression and therefore impact immunity and pulmonary function.


Asunto(s)
Asma , Hipersensibilidad Inmediata , Hipersensibilidad , Humanos , Niño , Haplotipos , Brasil/epidemiología , Predisposición Genética a la Enfermedad , Asma/genética , Hipersensibilidad Inmediata/genética , Hipersensibilidad/genética , Polimorfismo de Nucleótido Simple , Fosfodiesterasas de Nucleótidos Cíclicos Tipo 4/genética
8.
Gene ; 886: 147714, 2023 Nov 30.
Artículo en Inglés | MEDLINE | ID: mdl-37579959

RESUMEN

Asthma is a respiratory disease caused by the interaction of genetic and environmental factors. The adenylyl cyclase type 9 (ADCY9) enzyme produces the cyclic-adenosinemonophosphate (cAMP), important mediator involved in bronchodilation and immunomodulatory response. The aim of this study was to investigate if rs2601796 and rs2532019 variants in the ADCY9 gene are associated with asthma and lung function. The study comprised 1,052 subjects. Logistic regressions were done using PLINK 1.9 adjusted by sex, age, BMI, smoke and principal components. Bronchodilator responsiveness was assessed using the percentage of difference in FEV1 before and after the bronchodilator use. The in silico analysis for gene expression was performed in the GTEx Portal. The variant rs2601796 (AA/AG genotype) was positively associated with asthma severity (OR: 1.60 IC95%: 1.08-2.39) and with obstruction in individuals with severe asthma (OR: 3.10, IC95%: 1.11-8.62). Individuals with severe asthma and the AA/AG genotype of rs2601796 had less responsiveness to bronchodilators and also a lower expression of ADCY9 in lung and whole blood. The variant rs2532019 (TT/GT genotype) also downregulated the ADCY9 gene expression, but no significant association with the studied phenotypes was found. Thus, the variant in ADCY9 was associated with worse asthma outcomes, including a lower response to bronchodilators, likely due to the impact on its gene expression rate. This variant may be useful in the future to assist in personalized management of patients with asthma.


Asunto(s)
Asma , Broncodilatadores , Humanos , Asma/tratamiento farmacológico , Asma/genética , Broncodilatadores/farmacología , Broncodilatadores/uso terapéutico , Fenotipo
9.
J Anal Toxicol ; 47(7): 606-614, 2023 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-37494426

RESUMEN

Due to the high prevalence of cannabinoids in forensic toxicology analysis, it is crucial to have an efficient method that allows the use of a small sample amount and that requires a minimal sample preparation for the determination and quantification of low concentrations. A simple, highly selective and high throughput liquid chromatography-tandem mass spectrometry methodology (LC-MS-MS-MS3) was developed for the determination and quantification of ∆9-tetrahydrocannabinol (THC), 11-hydroxy-∆9- tetrahydrocannabinol (THC-OH) and 11-nor-9-carboxy-∆9-tetrahydrocannabinol (THC-COOH) in blood samples. Chromatographic analysis of THC, THC-OH and THC-COOH and their deuterated internal standards was preceded by protein precipitation (PPT) of 0.1 mL of blood samples with acetonitrile. Chromatographic separation was achieved by use of an Acquity UPLC® HHS T3 (100 mm × 2.1 mm i.d., 1.8 µm) reversed-phase column, using a gradient elution of 2 mM aqueous ammonium formate, 0.1% formic acid and methanol at a flow rate of 0.4 mL/min, with a run time of 10 min. For the MS-MS-MS3 analysis, a SCIEX QTRAP® 6500+ triple quadrupole linear ion trap mass spectrometer was used via electrospray ionization (ESI), operated in multiple reaction monitoring (MRM) and linear ion trap mode (MS3). The method was validated in accordance with internationally accepted criteria and guidelines, and proved to be selective and linear between 0.5 and 100 ng/mL (r2 > 0.995). The lower limits of quantification (LLOQ) corresponded to the lowest concentrations used for the calibration curves. The coefficients of variation obtained for accuracy and precision were <15%. The mean recoveries were between 88.0% and 117.2% for the studied concentration levels (1 ng/mL, 5 ng/mL and 50 ng/mL). No significant interfering compounds, matrix effects or carryover were observed. The validated method provides a sensitive, efficient and robust procedure for the quantification of cannabinoids in blood, using LC-MS-MS-MS3 and a sample volume of 0.1 mL. This work is also a proof of concept for using LC-MS3 technique to determine drugs in biological samples.


Asunto(s)
Cannabinoides , Dronabinol , Cromatografía Liquida/métodos , Espectrometría de Masas en Tándem/métodos , Toxicología Forense
10.
Arch Oral Biol ; 147: 105640, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36758286

RESUMEN

OBJECTIVE: Evaluate the association of genetic variants of the interferon gamma inducible protein 16 (IFI16) and absent in melanoma 2 (AIM2) genes with periodontitis. METHODS: The study involved 117 individuals with periodontitis and 389 without periodontitis, all Brazilians, miscegenated. Individuals with periodontitis presented at least 4 teeth with ≥ 1 site with probing depth ≥ 4 mm; clinical attachment level ≥ 3 mm on the same site and bleeding upon stimulus. Genotyping was performed using the Infinium Multi-Ethnic AMR/AFR-8 Bead Chip focused on Hispanic and African American populations with approximately 2 million markers of the human genome. Multivariate logistic regression was performed to identify associations in additive, dominant and recessive models adjusted for covariates age, obesity, mouth breathing, flossing, asthma, and ancestry. RESULTS: In IFI16, the rs75985579-A is positively associated with periodontitis in the additive (Odds Ratio adjusted (ORadjusted) 2.65, 95% confidence interval (CI):1.25-5.60, p value: 0.007) and dominant models (ORadjusted 2.56, 95%CI:1.13-5.81, p value: 0.017). In AIM2, the rs76457189-G, is associated negatively with periodontitis in two genetic models evaluated, additive (ORadjusted 0.21, 95%CI:0.05-0.94, p value: 0.022) and dominant (ORadjusted 0.21, 95%CI:0.05-0.94, p value: 0.022). CONCLUSIONS: These results have shown that variants in the IFI16 and AIM2 genes are associated with periodontitis. Individuals with at least one A (adenine) allele of the rs75985579 (IFI16) are more than twice as likely to have periodontitis, while individuals with the G (guanine) allele of rs76457189 (AIM2) are less likely to be diagnosed with periodontitis, providing a negative association with periodontitis.


Asunto(s)
Melanoma , Periodontitis , Humanos , Interferón gamma/genética , Proteínas de Unión al ADN/genética , Proteínas de Unión al ADN/metabolismo , Fosfoproteínas/genética , Periodontitis/genética , Alelos , Melanoma/genética , Proteínas Nucleares/genética
12.
Mol Biol Rep ; 49(12): 12259-12267, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36194377

RESUMEN

BACKGROUND: Shearwaters (order Procellariiformes) are an excellent study system to investigate the genetic consequences of the co-called "seabird paradox", as they are able to disperse long distances but many species exhibit natal and breeding philopatry. However, few microsatellite markers are currently available for these taxa, hampering genetic inferences. METHODS AND RESULTS: In this study, 25 novel microsatellite loci were isolated and characterized for each of two distantly related shearwater species: the wedge-tailed shearwater (Ardenna pacifica) and the tropical shearwater (Puffinus bailloni). Polymorphism tests were performed for a total of 91 A. pacifica individuals sampled at Reunion and Round Island, and 48 P. bailloni individuals from Reunion and Europa Island, in the western Indian Ocean. The analyses revealed 23 polymorphic loci for A. pacifica, with the number of alleles per locus (Na) ranging from 2 to 8 (mean = 3.957 ± 0.364). Nineteen polymorphic loci were found for P. bailloni, with Na varying from two to five (mean = 3.053 ± 0.247). The observed heterozygosity (Ho) was relatively low for the two species, with Ho ranging from 0.022 to 0.725 (mean = 0.326 ± 0.044) for A. pacifica and from 0.021 to 0.688 (mean = 0.271 ± 0.051) for P. bailloni, but comparable to the estimates available for other Puffinus species. CONCLUSIONS: The new microsatellite loci provide a valuable tool for further population genetic studies, and will allow for design of effective conservation and management plans for A. pacifica, P. bailloni and other closely-related species.


Asunto(s)
Aves , Repeticiones de Microsatélite , Animales , Cruzamiento , Océano Índico , Repeticiones de Microsatélite/genética
13.
Mol Ecol ; 31(19): 4901-4918, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35880414

RESUMEN

Madagascar's Central Highlands are largely composed of grasslands, interspersed with patches of forest. The historical perspective was that Madagascar's grasslands had anthropogenic origins, but emerging evidence suggests that grasslands were a component of the pre-human Central Highlands vegetation. Consequently, there is now vigorous debate regarding the extent to which these grasslands have expanded due to anthropogenic pressures. Here, we shed light on the temporal dynamics of Madagascar's vegetative composition by conducting a population genomic investigation of Goodman's mouse lemur (Microcebus lehilahytsara; Cheirogaleidae). These small-bodied primates occur both in Madagascar's eastern rainforests and in the Central Highlands, making them a valuable indicator species. Population divergences among forest-dwelling mammals will reflect changes to their habitat, including fragmentation, whereas patterns of post-divergence gene flow can reveal formerly wooded migration corridors. To explore these patterns, we used RADseq data to infer population genetic structure, demographic models of post-divergence gene flow, and population size change through time. The results offer evidence that open habitats are an ancient component of the Central Highlands, and that widespread forest fragmentation occurred naturally during a period of decreased precipitation near the last glacial maximum. Models of gene flow suggest that migration across the Central Highlands has been possible from the Pleistocene through the recent Holocene via riparian corridors. Though our findings support the hypothesis that Central Highland grasslands predate human arrival, we also find evidence for human-mediated population declines. This highlights the extent to which species imminently threatened by human-mediated deforestation may already be vulnerable from paleoclimatic conditions.


Asunto(s)
Cheirogaleidae , Lemur , Animales , Cheirogaleidae/genética , Humanos , Madagascar , Metagenómica , Bosque Lluvioso
14.
Genes (Basel) ; 13(5)2022 05 19.
Artículo en Inglés | MEDLINE | ID: mdl-35627298

RESUMEN

The occurrence of natural hybridization has been reported in a wide range of organisms, including primates. The present study focuses on the endemic lemurs of Madagascar, primates for which only a few species occur in sympatry or parapatry with congeners, thereby creating limited opportunity for natural hybridization. This study examines RADseq data from 480 individuals to investigate whether the recent expansion of Microcebus murinus towards the northwest and subsequent secondary contact with Microcebus ravelobensis has resulted in the occurrence of hybridization between the two species. Admixture analysis identified one individual with 26% of nuclear admixture, which may correspond to an F2- or F3-hybrid. A composite-likelihood approach was subsequently used to test the fit of alternative phylogeographic scenarios to the genomic data and to date introgression. The simulations yielded support for low levels of gene flow (2Nm0 = 0.063) between the two species starting before the Last Glacial Maximum (between 54 and 142 kyr). Since M. murinus most likely colonized northwestern Madagascar during the Late Pleistocene, the rather recent secondary contact with M. ravelobensis has likely created the opportunity for occasional hybridization. Although reproductive isolation between these distantly related congeners is not complete, it is effective in maintaining species boundaries.


Asunto(s)
Cheirogaleidae , Animales , Cheirogaleidae/genética , Hibridación Genética , Funciones de Verosimilitud , Madagascar , Simpatría
15.
Gene ; 828: 146478, 2022 Jun 20.
Artículo en Inglés | MEDLINE | ID: mdl-35390444

RESUMEN

BACKGROUND: Obesity is a chronic complex disease with great prevalence for children all over the world. Characterized for low-grade inflammation associated with several comorbidities such as resistance and type 2 diabetes mellitus (T2DM). OBJECTIVES: To investigate whether genetic variants in IL10, IL1RL1, IL1B, IRF4, TNF, IL6, and IL33 genes are associated with being overweight in children. METHODS: We performed the genotyping of 1004 children using Illumina 2.5 Human Omni bead chip, and association analysis on the genetic variants and the overweight through logistic regression adjusted for sex, age and components principal. RESULTS: Of the seven genes analyzed, 16 SNVs significantly associated. Eleven variants in IL1RL1, two in IL1B and one in IRF4 genes increased overweight risk and two SNVs in IL1RL1 were associated with protection against overweight. The rs2287047-A was negatively associated (OR: 0.66, CI95%: 0.19-0.45) and had a reduced IL1RL1 expression in whole blood (p 0.033) in silico eQTL. The rs12203592-T, in IRF4, was positively associated with being overweight, and led to an increased gene expression in whole blood (p < 0.001) and adipose tissue (p < 0.001). CONCLUSION: These results suggest that genetic variants in inflammatory genes may play an important role in the development of overweight in children.


Asunto(s)
Diabetes Mellitus Tipo 2 , Factores Reguladores del Interferón/genética , Polimorfismo de Nucleótido Simple , Brasil , Niño , Diabetes Mellitus Tipo 2/genética , Predisposición Genética a la Enfermedad , Humanos , Proteína 1 Similar al Receptor de Interleucina-1/genética , Interleucina-1beta/genética , Sobrepeso/genética
16.
Rev Bras Enferm ; 75(4): e20210654, 2022.
Artículo en Inglés, Portugués | MEDLINE | ID: mdl-35352788

RESUMEN

OBJECTIVES: to identify nursing interventions in rehabilitation, within the scope of functional respiratory reeducation, which allow a respiratory function improvement in people with respiratory disease. METHODS: systematic literature review using the MEDLINE database search, adopting the PICO mnemonic and the Joanna Briggs Institute's assessment of the level of evidence and methodological quality. The search for randomized controlled trials was carried out in June 2021 considering the period from 2015 to 2020, in English or Portuguese. RESULTS: a sample of nine randomized controlled trials with methodological quality was obtained which highlighted the use of positive expiratory pressure devices as an important component and intervention for respiratory functional reeducation. CONCLUSIONS: nursing interventions in rehabilitation with an emphasis on functional respiratory reeducation are essential, showing improvements in people's general health.


Asunto(s)
Trastornos Respiratorios , Enfermedades Respiratorias , Humanos , Trastornos Respiratorios/terapia , Enfermedades Respiratorias/terapia
17.
J Clin Endocrinol Metab ; 107(6): e2488-e2501, 2022 05 17.
Artículo en Inglés | MEDLINE | ID: mdl-35137147

RESUMEN

CONTEXT: The type 2 deiodinase and its Thr92Ala-DIO2 polymorphism have been linked to clinical outcomes in acute lung injury and pulmonary fibrosis. OBJECTIVE: Our objectives were to evaluate were cumulative mortality during admission according to Thr92Ala-DIO2 polymorphism. METHODS: Here we conducted an observational, longitudinal, and prospective cohort study to investigate a possible association between the Thr92Ala-DIO2 polymorphism and intrahospital mortality from COVID-19 in adult patients admitted between June and August 2020. Blood biochemistry, thyroid function tests, length of stay, comorbidities, complications, and severity scores were also studied according to Thr92Ala-DIO2 polymorphism. RESULTS: In total, 220 consecutive patients (median age 62; 48-74 years) were stratified into 3 subgroups: Thr/Thr (n = 79), Thr/Ala (n = 119), and Ala/Ala (n = 23). While the overall mortality was 17.3%, the lethality was lower in Ala/Thr patients (12.6%) than in Thr/Thr patients (21.7%) or Ala/Ala patients (23%). The heterozygous genotype (Thr/Ala) was associated with a 47% reduced risk of intrahospital mortality whereas univariate and multivariate logistic regression adjusted for multiple covariates revealed a reduction that ranged from 51% to 66%. The association of the Thr/Ala genotype with better clinical outcomes was confirmed in a metanalysis of 5 studies, including the present one. CONCLUSION: Here we provide evidence for a protective role played by Thr92Ala-DIO2 heterozygosity in patients with COVID-19. This protective effect follows an inheritance model known as overdominance, in which the phenotype of the heterozygote lies outside the phenotypical range of both homozygous.


Asunto(s)
COVID-19 , Yoduro Peroxidasa , COVID-19/genética , COVID-19/mortalidad , Heterocigoto , Mortalidad Hospitalaria , Humanos , Yoduro Peroxidasa/genética , Estudios Longitudinales , Polimorfismo de Nucleótido Simple , Estudios Prospectivos , Yodotironina Deyodinasa Tipo II
18.
Rev. bras. enferm ; 75(4): e20210654, 2022. tab, graf
Artículo en Inglés | LILACS-Express | LILACS, BDENF - Enfermería | ID: biblio-1365637

RESUMEN

ABSTRACT Objectives: to identify nursing interventions in rehabilitation, within the scope of functional respiratory reeducation, which allow a respiratory function improvement in people with respiratory disease. Methods: systematic literature review using the MEDLINE database search, adopting the PICO mnemonic and the Joanna Briggs Institute's assessment of the level of evidence and methodological quality. The search for randomized controlled trials was carried out in June 2021 considering the period from 2015 to 2020, in English or Portuguese. Results: a sample of nine randomized controlled trials with methodological quality was obtained which highlighted the use of positive expiratory pressure devices as an important component and intervention for respiratory functional reeducation. Conclusions: nursing interventions in rehabilitation with an emphasis on functional respiratory reeducation are essential, showing improvements in people's general health.


RESUMEN Objetivos: identificar las intervenciones de enfermería en rehabilitación, en el ámbito de la reeducación funcional respiratoria, que permiten una mejoría de la función respiratoria en persona con enfermedad respiratoria. Métodos: revisión sistemática de la literatura con recurso a la investigación en la base de datos MEDLINE, adoptando la mnemónica PICO y evaluación del nivel de evidencia y calidad metodológica señalado por Joanna Briggs Institute. En el mes de junio de 2021, fue realizada la investigación de estudios randomizados controlados, en el intervalo de 2015 a 2020, en inglés o portugués. Resultados: se obtuvo muestra de nueve estudios randomizados controlados, con calidad metodológica, de los cuales se destaca el uso de dispositivos de presión espiratoria positiva como una importante componente e intervención de reeducación funcional respiratoria. Conclusiones: las intervenciones de enfermería en rehabilitación con énfasis en la reeducación funcional respiratoria son fundamentales, evidenciándose mejorías en la salud general de las personas.


RESUMO Objetivos: identificar as intervenções de enfermagem em reabilitação, no âmbito da reeducação funcional respiratória, que permitem uma melhoria da função respiratória na pessoa com doença respiratória. Métodos: revisão sistemática da literatura com recurso à pesquisa na base de dados MEDLINE, adotando a mnemónica PICO e a avaliação do nível de evidência e qualidade metodológica salientado por Joanna Briggs Institute. No mês de junho de 2021, foi realizada a pesquisa de estudos randomizados controlados, no intervalo de 2015 a 2020, em inglês ou português. Resultados: obteve-se amostra de nove estudos randomizados controlados, com qualidade metodológica, dos quais se destaca o uso de dispositivos de pressão expiratória positiva como uma importante componente e intervenção de reeducação funcional respiratória. Conclusões: as intervenções de enfermagem em reabilitação com ênfase na reeducação funcional respiratória são fundamentais, evidenciando-se melhorias na saúde geral das pessoas.

19.
BMC Ecol Evol ; 21(1): 197, 2021 11 02.
Artículo en Inglés | MEDLINE | ID: mdl-34727890

RESUMEN

BACKGROUND: Quaternary climate fluctuations have been acknowledged as major drivers of the geographical distribution of the extraordinary biodiversity observed in tropical biomes, including Madagascar. The main existing framework for Pleistocene Malagasy diversification assumes that forest cover was strongly shaped by warmer Interglacials (leading to forest expansion) and by cooler and arid glacials (leading to forest contraction), but predictions derived from this scenario for forest-dwelling animals have rarely been tested with genomic datasets. RESULTS: We generated genomic data and applied three complementary demographic approaches (Stairway Plot, PSMC and IICR-simulations) to infer population size and connectivity changes for two forest-dependent primate species (Microcebus murinus and M. ravelobensis) in northwestern Madagascar. The analyses suggested major demographic changes in both species that could be interpreted in two ways, depending on underlying model assumptions (i.e., panmixia or population structure). Under panmixia, the two species exhibited larger population sizes across the Last Glacial Maximum (LGM) and towards the African Humid Period (AHP). This peak was followed by a population decline in M. ravelobensis until the present, while M. murinus may have experienced a second population expansion that was followed by a sharp decline starting 3000 years ago. In contrast, simulations under population structure suggested decreasing population connectivity between the Last Interglacial and the LGM for both species, but increased connectivity during the AHP exclusively for M. murinus. CONCLUSION: Our study shows that closely related species may differ in their responses to climatic events. Assuming that Pleistocene climatic conditions in the lowlands were similar to those in the Malagasy highlands, some demographic dynamics would be better explained by changes in population connectivity than in population size. However, changes in connectivity alone cannot be easily reconciled with a founder effect that was shown for M. murinus during its colonization of the northwestern Madagascar in the late Pleistocene. To decide between the two alternative models, more knowledge about historic forest dynamics in lowland habitats is necessary. Altogether, our study stresses that demographic inferences strongly depend on the underlying model assumptions. Final conclusions should therefore be based on a comparative evaluation of multiple approaches.


Asunto(s)
Cheirogaleidae , Animales , Cheirogaleidae/genética , Demografía , Ecosistema , Madagascar , Simpatría
20.
Commun Biol ; 4(1): 1084, 2021 09 15.
Artículo en Inglés | MEDLINE | ID: mdl-34526636

RESUMEN

Quaternary climatic changes have been invoked as important drivers of species diversification worldwide. However, the impact of such changes on vegetation and animal population dynamics in tropical regions remains debated. To overcome this uncertainty, we integrated high-resolution paleoenvironmental reconstructions from a sedimentary record covering the past 25,000 years with demographic inferences of a forest-dwelling primate species (Microcebus arnholdi), in northern Madagascar. Result comparisons suggest that climate changes through the African Humid Period (15.2 - 5.5 kyr) strongly affected the demographic dynamics of M. arnholdi. We further inferred a population decline in the last millennium which was likely shaped by the combination of climatic and anthropogenic impacts. Our findings demonstrate that population fluctuations in Malagasy wildlife were substantial prior to a significant human impact. This provides a critical knowledge of climatically driven, environmental and ecological changes in the past, which is essential to better understand the dynamics and resilience of current biodiversity.


Asunto(s)
Cheirogaleidae/fisiología , Ecosistema , Animales , Madagascar , Dinámica Poblacional
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