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1.
Nature ; 620(7976): 1013-1017, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37438527

RESUMO

Pesticides are ubiquitous environmental pollutants negatively affecting ecosystem and human health1,2. About 3 Tg of pesticides are used annually in agriculture to protect crops3. How much of these pesticides remain on land and reach the aquifer or the ocean is uncertain. Monitoring their environmental fate is challenging, and a detailed picture of their mobility in time and space is largely missing4. Here, we develop a process-based model accounting for the hydrology and biogeochemistry of the 92 most used agricultural pesticide active substances to assess their pathways through the principal catchments of the world and draw a near-present picture of the global land and river budgets, including discharge to oceans. Of the 0.94 Tg net annual pesticide input in 2015 used in this study, 82% is biologically degraded, 10% remains as residue in soil and 7.2% leaches below the root zone. Rivers receive 0.73 Gg of pesticides from their drainage at a rate of 10 to more than 100 kg yr-1 km-1. By contrast to their fate in soil, only 1.1% of pesticides entering rivers are degraded along streams, exceeding safety levels (concentrations >1 µg l-1) in more than 13,000 km of river length, with 0.71 Gg of pesticide active ingredients released to oceans every year. Herbicides represent the prevalent pesticide residue on both land (72%) and river outlets (62%).


Assuntos
Agricultura , Monitoramento Ambiental , Poluentes Ambientais , Oceanos e Mares , Praguicidas , Rios , Solo , Humanos , Ecossistema , Praguicidas/análise , Rios/química , Solo/química , Poluentes Químicos da Água/análise , Água do Mar/química , Herbicidas/análise , Poluentes do Solo/análise , Poluentes Ambientais/análise
2.
Glob Chang Biol ; 29(15): 4298-4312, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37190869

RESUMO

The recent rise in atmospheric methane (CH4 ) concentrations accelerates climate change and offsets mitigation efforts. Although wetlands are the largest natural CH4 source, estimates of global wetland CH4 emissions vary widely among approaches taken by bottom-up (BU) process-based biogeochemical models and top-down (TD) atmospheric inversion methods. Here, we integrate in situ measurements, multi-model ensembles, and a machine learning upscaling product into the International Land Model Benchmarking system to examine the relationship between wetland CH4 emission estimates and model performance. We find that using better-performing models identified by observational constraints reduces the spread of wetland CH4 emission estimates by 62% and 39% for BU- and TD-based approaches, respectively. However, global BU and TD CH4 emission estimate discrepancies increased by about 15% (from 31 to 36 TgCH4 year-1 ) when the top 20% models were used, although we consider this result moderately uncertain given the unevenly distributed global observations. Our analyses demonstrate that model performance ranking is subject to benchmark selection due to large inter-site variability, highlighting the importance of expanding coverage of benchmark sites to diverse environmental conditions. We encourage future development of wetland CH4 models to move beyond static benchmarking and focus on evaluating site-specific and ecosystem-specific variabilities inferred from observations.


Assuntos
Ecossistema , Áreas Alagadas , Metano/análise , Mudança Climática , Previsões , Dióxido de Carbono
3.
Genet Med ; 22(2): 309-316, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31391534

RESUMO

PURPOSE: To assess the association between confined placental mosaicism (CPM) and adverse pregnancy outcome. METHODS: A retrospective cohort study was carried out evaluating the outcome of pregnancies with and without CPM involving a rare autosomal trisomy (RAT) or tetraploidy. Birthweight, gestational age at delivery, fetal growth restriction (FGR), Apgar score, neonatal intensive care admission, preterm delivery, and hypertensive disorders of pregnancy were considered. RESULTS: Overall 181 pregnancies with CPM and 757 controls were recruited. Outcome information was available for 69% of cases (n = 124) and 62% of controls (n = 468). CPM involving trisomy 16 (T16) was associated with increased incidence of birthweight <3rd centile (P = 0.007, odds ratio [OR] = 11.2, 95% confidence interval [CI] = 2.7-47.1) and preterm delivery (P = 0.029, OR = 10.2, 95% CI = 1.9-54.7). For the other RATs, an association with prenatally diagnosed FGR was not supported by birthweight data and there were no other strong associations with adverse outcomes. CONCLUSION: Excluding T16, the incidence of adverse pregnancy outcomes for pregnancies carrying a CPM is low. RATs can also be identified through genome-wide cell-free DNA screening. Because most of these will be attributable to CPMs, we conclude that this screening is of minimal benefit.


Assuntos
Ácidos Nucleicos Livres/análise , Mosaicismo/classificação , Placentação/genética , Cromossomos Humanos Par 16/genética , Estudos de Coortes , Feminino , Retardo do Crescimento Fetal/diagnóstico , Feto , Idade Gestacional , Humanos , Recém-Nascido , Recém-Nascido Pequeno para a Idade Gestacional/fisiologia , Mosaicismo/embriologia , Teste Pré-Natal não Invasivo/métodos , Placenta/metabolismo , Gravidez , Resultado da Gravidez/genética , Cuidado Pré-Natal , Diagnóstico Pré-Natal/métodos , Estudos Retrospectivos , Análise de Sequência de DNA/métodos , Trissomia/genética
4.
Environ Sci Technol ; 54(17): 10399-10410, 2020 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-32786599

RESUMO

Trifluralin is a widely used dinitroaniline herbicide, which can persist in the environment and has substantial ecotoxicity, especially to aquatic organisms. Trifluralin is very insoluble in water (0.22 mg/L at 20 °C) and highly volatile (vapor pressure of 6.7 mPa at 20 °C); these physicochemical properties determine a large part of its environmental fate, which includes rapid loss from soils if surface-applied, strong binding to soil organic matter, and negligible leaching into water. The trifluralin structure contains a tertiary amino group, two nitro-groups and a trifluoromethyl- group. Despite the strongly xenobiotic character of some of these substituents, biodegradation of trifluralin does occur, and pure cultures of bacteria and fungi capable of partially degrading the molecule either by dealkylation or nitro-group reduction have been identified. There are many unanswered questions about the environmental fate and metabolism of this herbicide; the genes and enzymes responsible for biodegradation are largely unknown, the relative roles of abiotic processes vs growth-linked biodegradation vs cometabolism are unresolved, and the impact of different environmental factors on the rates and extents of biodegradation are not clear. Here, we summarize the relevant literature on the persistence and environmental fate of trifluralin with a focus on biodegradation pathways and mechanisms, and we identify the current major knowledge gaps for future research.


Assuntos
Herbicidas , Poluentes do Solo , Bactérias , Biodegradação Ambiental , Fungos , Herbicidas/análise , Poluentes do Solo/análise , Trifluralina/análise
5.
Langmuir ; 35(15): 5324-5332, 2019 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-30869902

RESUMO

The dynamic wetting for the CO2-water-silica system occurring in deep reservoirs is complex because of the interactions among multiple phases. This work aims to quantify the contact angle of CO2-water flow in the silica channel at six different flow velocities using molecular dynamics. The dynamic contact angle values at different contact line velocities are obtained for the CO2-water-silica system. By calculating the rates of the adsorption-desorption process of CO2 and water molecules on the silica surface using molecular dynamics simulations, it has been found that the results of the dynamic contact angle can be explained by the molecular kinetic theory and predicted from the equilibrium molecular simulations. Moreover, the capillary pressure at different contact line velocities is predicted according to the Young-Laplace equation. The change in contact angles at different velocities is compared with empirical equations in terms of capillary number. The results of this study can help us better understand the dynamic process of the multiphase flow at the nanoscale under realistic reservoir conditions.

6.
Fetal Diagn Ther ; 46(3): 149-152, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30352439

RESUMO

OBJECTIVE: To estimate the procedure-related risk of miscarriage in pregnancies undergoing amniocentesis (AC) following inconclusive results for a chorionic villus sampling (CVS). METHODS: This was a multicentric retrospective cohort study of patients in which both CVS at 11-13 weeks' gestation and AC at 16-22 weeks were performed between January 1st, 2008, and July 31st, 2017. The primary outcome measure was pregnancy loss prior to 24 weeks gestation; the secondary one was intrauterine demise after 24 weeks. RESULTS: A total of 287 patients underwent transabdominal CVS and AC. Nine patients were lost at follow-up; therefore, the analysis was conducted on a population of 278 patients (275 singletons and 3 dichorionic twin pregnancies). AC was performed because of placental mosaicism (93.6%), failure of direct/semidirect preparation of trophoblastic cells (3.2%), or targeted genetic testing after the diagnosis of an anomaly in the second trimester (3.2%). In continuing pregnancies, there were no fetal losses prior to 24 weeks' gestation. Two intrauterine demises (including 1 fetus with multiple anomalies and growth restriction) in the third trimester were recorded. CONCLUSION: Patients undergoing midtrimester AC because of an inconclusive result of CVS can be reasonably reassured that in general the risk of miscarriage and fetal loss following the procedure is very small.


Assuntos
Aborto Espontâneo/etiologia , Amniocentese/efeitos adversos , Morte Fetal/etiologia , Adulto , Amostra da Vilosidade Coriônica , Feminino , Humanos , Gravidez , Segundo Trimestre da Gravidez , Cuidado Pré-Natal , Estudos Retrospectivos , Fatores de Risco
7.
Reprod Biomed Online ; 36(4): 442-449, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29433970

RESUMO

The aim of this study was to devise an evidence-based scoring system for prioritizing mosaic aneuploid embryos for transfer. A retrospective analysis was performed of all sequential cytogenetic and molecular results on chorionic villi samples (n = 72,472) and products of conception (n = 3806) analysed at a single centre. The likelihood that a mosaic aneuploidy detected in chorionic villi samples will involve the fetus, the incidence of clinically significant fetal uniparental disomy in the presence of a mosaic in chorionic villi and the chance of the mosaicism culminating in miscarriage were used to generate a scoring system for prioritizing mosaic aneuploid embryos detected by preimplantation genetic screening. A composite score was obtained for each individual mosaic aneuploidy after assignment of an individual risk score based on the incidence/likelihood of each adverse outcome. A final additional score was assigned to viable full or mosaic aneuploidies with a well-defined phenotype. The higher the composite score the lower the priority for embryo transfer. In conclusion, due to the paucity of prospective studies on the actual transfer of mosaic aneuploid embryos, we suggest using this evidence-based scoring system to provide a useful tool for clinicians, embryologists and patients.


Assuntos
Aneuploidia , Transferência Embrionária/métodos , Mosaicismo , Diagnóstico Pré-Implantação , Feminino , Humanos , Gravidez , Resultado da Gravidez , Sensibilidade e Especificidade
8.
J Chem Phys ; 149(12): 124505, 2018 Sep 28.
Artigo em Inglês | MEDLINE | ID: mdl-30278659

RESUMO

The objective of this study is to develop and test a coarse-grained molecular dynamics framework to model microscale multiphase systems with different inter-particle interactions and recover emerging thermodynamic and mechanical properties at the microscale. A water-vapor model and a fused silica model are developed to demonstrate the capability of our framework. The former can reproduce the water density and surface tension over a wide range of temperatures; the latter can reproduce experimental density, tensile strength, and Young's modulus of fused silica. Therefore, the deformable solid model is implemented in the proposed framework. Validations of spatial scaling methods for solid, liquid, and multiphase systems suggest that the proposed framework can be calibrated at an arbitrary microscale and used at a different length scale without recalibration. Different values of wettability for a solid-liquid-vapor system that is characterized by the contact angle can be achieved by changing the solid-liquid inter-particle potential. Thanks to these features, the proposed coarse-grained molecular dynamics framework can potentially find applications in modeling systems in which multiple phases coexist and have substantial interactions.

9.
Prenat Diagn ; 37(10): 1017-1027, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28801976

RESUMO

OBJECTIVE: The unique biological behavior of sex chromosomes has implications for cell-free DNA (cfDNA) testing. Our purpose is to predict the (1) false positive/negative rates of cfDNA testing consequent to fetoplacental mosaicism for any sex chromosome aneuploidies (SCA) and (2) positive predictive value (PPV) and negative predictive values of a high-risk and low-risk cfDNA result for any SCA. METHOD: This is a retrospective analysis of 67 030 chorionic villus sampling karyotypes, including fetoplacental mosaicism cases. RESULTS: Non-mosaic 45, X is associated with cystic hygroma/increased nuchal translucency and fetal anomalies. The false positive rate consequent to confined placental mosaicism is predicted to be 0.05%. The estimated false negative rate is in the range of 0% to 5.7% for all non-mosaic SCAs; it is 70% for mosaic 45, X with normal ultrasound. The predicted PPV on amniocytes is very high for most SCAs (94.4-99.4%). However, the stratified analysis shows that the PPV is much lower for 45, X without ultrasound anomalies compared with 45, X with abnormal scan (51% or 71%, vs 99%, respectively). CONCLUSION: Mosaicism is a major issue for SCA cfDNA testing, and prenatal confirmation, preferentially with amniocentesis if there are no ultrasound anomalies, remains important in counseling. As PPV varies on the basis of the presence of an ultrasound anomaly, skilled evaluation is critical. © 2017 John Wiley & Sons, Ltd.


Assuntos
Aneuploidia , Ácidos Nucleicos Livres/sangue , Cromossomos Humanos X/genética , Mosaicismo/embriologia , Amniocentese , Amostra da Vilosidade Coriônica , Anormalidades Congênitas/diagnóstico por imagem , Anormalidades Congênitas/genética , Reações Falso-Negativas , Feminino , Feto , Humanos , Cariotipagem , Linfangioma Cístico/genética , Medição da Translucência Nucal , Placenta , Gravidez , Estudos Retrospectivos , Ultrassonografia Pré-Natal
10.
J Cell Mol Med ; 20(6): 1036-48, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-26987908

RESUMO

In the cell therapy scenario, efficient tracing of transplanted cells is essential for investigating cell migration and interactions with host tissues. This is fundamental to provide mechanistic insights which altogether allow for the understanding of the translational potential of placental cell therapy in the clinical setting. Mesenchymal stem/stromal cells (MSC) from human placenta are increasingly being investigated for their potential in treating patients with a variety of diseases. In this study, we investigated the feasibility of using poly (methyl methacrylate) nanoparticles (PMMA-NPs) to trace placental MSC, namely those from the amniotic membrane (hAMSC) and early chorionic villi (hCV-MSC). We report that PMMP-NPs are efficiently internalized and retained in both populations, and do not alter cell morphofunctional parameters. We observed that PMMP-NP incorporation does not alter in vitro immune modulatory capability of placental MSC, a characteristic central to their reparative/therapeutic effects in vitro. We also show that in vitro, PMMP-NP uptake is not affected by hypoxia. Interestingly, after in vivo brain ischaemia and reperfusion injury achieved by transient middle cerebral artery occlusion (tMCAo) in mice, iv hAMSC treatment resulted in significant improvement in cognitive function compared to PBS-treated tMCAo mice. Our study provides evidence that tracing placental MSC with PMMP-NPs does not alter their in vitro and in vivo functions. These observations are grounds for the use of PMMP-NPs as tools to investigate the therapeutic mechanisms of hAMSC and hCV-MSC in preclinical models of inflammatory-driven diseases.


Assuntos
Endocitose , Nanopartículas/química , Placenta/citologia , Polímeros/metabolismo , Âmnio/citologia , Animais , Diferenciação Celular , Hipóxia Celular , Proliferação de Células , Sobrevivência Celular , Vilosidades Coriônicas/metabolismo , Feminino , Humanos , Imunomodulação , Isquemia/patologia , Masculino , Células-Tronco Mesenquimais/citologia , Camundongos , Camundongos Endogâmicos C57BL , Fenótipo , Gravidez
11.
Prenat Diagn ; 36(12): 1146-1155, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27770451

RESUMO

OBJECTIVES: No previous studies have reported the frequencies of individual chromosomal anomalies in normal-appearing fetuses stratified by maternal age (MA) and gestational age (GA). We therefore sought to (1) characterize the frequency of all fetal karyotype anomalies in sonographically normal appearing fetuses without pretest risk factors, and (2) assess MA and GA impact on the proportion of anomalies targeted by screening and consequent impact on residual risk following a negative result. METHODS: Fetal karyotypes from samples without prior risk assessment or ultrasound anomalies were analyzed. We calculated, per single-year MA and in two GA intervals, the predicted frequency of each cytogenetic defect. RESULTS: A total of 129 263 karyotypes were analyzed. The risk for significant, cytogenetically visible chromosomal anomalies, at 15 to 20 weeks GA, varies between 1/301 at MA of 18 years, and 1/9 at MA of 48 years. The proportion of clinically significant anomalies not addressed by current screening methods is 47% at MA of 18 years and 5% at MA of 48 years. CONCLUSIONS: By determining frequencies for individual karyotype anomalies stratified by MA and GA, in the setting of normal-appearing fetuses, a more personalized risk assessment, including the residual risk after a normal fetal aneuploidy screening result, can be provided. © 2016 John Wiley & Sons, Ltd.


Assuntos
Transtornos Cromossômicos/epidemiologia , Idade Gestacional , Idade Materna , Adolescente , Adulto , Amniocentese , Amostra da Vilosidade Coriônica , DNA/análise , Feminino , Humanos , Cariotipagem , Modelos Logísticos , Pessoa de Meia-Idade , Gravidez , Primeiro Trimestre da Gravidez , Segundo Trimestre da Gravidez , Diagnóstico Pré-Natal , Medição de Risco , Ultrassonografia Pré-Natal , Adulto Jovem
12.
J Environ Manage ; 183(Pt 3): 673-686, 2016 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-27639300

RESUMO

Twenty-two experimental sets were used to determine the biodecomposition parameters of atrazine (ATZ), deisopropylatrazine (DIATZ), and deethylatrazine (DEATZ) by inverse solution of Michaelis-Menten-Monod kinetic equations. The averaged maximum specific growth rate (µ), Michaelis-Menten half-saturation concentration (K), and biomass yield (Y) ranged between 2.00 × 10-7 and 4.62 × 10-5 1/s, 3.43 × 10-6 and 1.39 × 101 mol/L, and 1.20 × 102 and 2.98 × 105 mg-wet-Bio/mol-Subs, respectively. Parameters grouped by reaction pathway appeared clustered by aerobic and anaerobic catabolic breakdown, and were poorly correlated between each other (R ranging from -0.27 to 0.63, p ≥ 0.05). The tested bacterial strains decomposed ATZ, DIATZ, and DEATZ relatively rapidly in laboratory conditions, with an half-life (t1/2) ranging between 3 and 6 days. Numerical modeling showed that ATZ, DIATZ, and DEATZ half-lives were particularly sensitive to their initial concentration and the initial microbial biomass concentration. This study suggests that these bacterial strains can effectively be used or enhanced for bioremediation of agricultural soils where atrazine has been applied as long as these bacteria already coexist in or can integrate with the local soil microbial population at a given location.


Assuntos
Atrazina/análogos & derivados , Atrazina/metabolismo , Poluentes do Solo/metabolismo , Triazinas/metabolismo , Aerobiose , Agricultura , Anaerobiose , Atrazina/química , Bactérias/metabolismo , Biodegradação Ambiental , Meia-Vida , Herbicidas/química , Herbicidas/metabolismo , Cinética , Solo , Microbiologia do Solo , Poluentes do Solo/química , Triazinas/química
13.
Soft Matter ; 11(47): 9150-9, 2015 Dec 21.
Artigo em Inglês | MEDLINE | ID: mdl-26414181

RESUMO

There has been growing interest in using the fractal dimension to study the hierarchical structures of soft materials after realising that fractality is an important property of natural and engineered materials. This work presents a method to quantify the internal architecture and the space-filling capacity of granular fractal aggregates by reconstructing the three-dimensional capacity dimension from their two-dimensional optical projections. Use is made of the light intensity of the two-dimensional aggregate images to describe the aggregate surface asperities (quantified by the perimeter-based fractal dimension) and the internal architecture (quantified by the capacity dimension) within a mathematical framework. This method was tested on control aggregates of diffusion-limited (DLA), cluster-cluster (CCA) and self-correlated (SCA) types, stereolithographically-fabricated aggregates, and experimentally-acquired natural sedimentary aggregates. Statistics of the reconstructed capacity dimension featured correlation coefficients R ≥ 98%, residuals NRMSE ≤ 10% and percent errors PE ≤ 4% as compared to controls, and improved earlier approaches by up to 50%.


Assuntos
Modelos Teóricos , Materiais Biocompatíveis/química , Difusão , Imagem Óptica
14.
Prenat Diagn ; 35(11): 1117-27, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26213308

RESUMO

OBJECTIVES: Chromosomal mosaicism in chorionic villi (CV) is detected in ~1-2% of cases. When a mosaic in CV is detected during prenatal diagnosis, a confirmatory karyotype should be performed on amniocytes to discriminate between a mosaic confined to the placenta [confined placental mosaicism (CPM)] and one generalized to the fetus [true fetal mosaicism (TFM)]. We determined the likelihood that any mosaic abnormalities identified through CV samples are confirmed in the fetus. METHODS: Over a period of 14 years, the laboratory analyzed both the cytotrophoblast and the mesenchyme of 60 347 CV samples. Cytogenetic results from CV samples showing mosaicism with follow-up amniocentesis were considered. The incidence of CPM and TFM and the risk of confirmation in the amniotic fluid (AF) were calculated. Uniparental disomy (UPD) was tested on ~300 cases at risk due to involvement of an imprinted chromosome. RESULTS: Overall, 1317 mosaic CV cases (2.18%) were detected, of which 1001 were subsequently investigated by amniocentesis. The overall risk of TFM was 13% and UPD incidence was 2.1%. CONCLUSIONS: The very large presented sample set and consistency in cytogenetic methodology, especially the analysis of both placental layers performed on all CV samples will enable genetic counselors to determine the risk of fetal involvement and the clinical relevance of an identified mosaic condition.


Assuntos
Vilosidades Coriônicas/metabolismo , Feto/metabolismo , Mesoderma/metabolismo , Mosaicismo , Trissomia/diagnóstico , Trofoblastos/metabolismo , Dissomia Uniparental/genética , Amniocentese , Líquido Amniótico , Amostra da Vilosidade Coriônica , Feminino , Humanos , Cariotipagem , Placenta/metabolismo , Gravidez , Diagnóstico Pré-Natal , Estudos Retrospectivos
15.
Prenat Diagn ; 35(10): 994-8, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26211640

RESUMO

OBJECTIVES: Cell-free DNA (cfDNA) screening can provide false positive/negative results because the fetal fraction originates primarily from trophoblast. Consequently, invasive diagnostic testing is recommended to confirm a high-risk result. Currently, there is debate about the most appropriate invasive method. We sought to estimate the frequency in which a chorionic villus sampling (CVS) performed after a high-risk cfDNA result would require a follow-up amniocentesis due to placental mosaicism. METHODS: Analyses of the frequencies of the different types of mosaicism involving cytotrophoblasts, for trisomies 21 (T21), 18 (T18), 13 (T13) and monosomy X (MX) among 52,673 CVS karyotypes obtained from cytotrophoblast, mesenchyme and confirmatory amniocentesis. RESULTS: After a high-risk cfDNA result for T21, 18, 13 and MX, the likelihood of finding CVS mosaicism and need for amniocentesis is, respectively, 2%, 4%, 22% and 59%. When mosaicism is detected by CVS, the likelihood of fetal confirmation by amniocentesis is, respectively, 44%, 14%, 4% and 26%. CONCLUSIONS: In cases of high-risk cfDNA results for T21/T18, CVS (combining cytotrophoblast and mesenchyme analysis) can be considered, but with the caveat of 2-4% risk of an inconclusive result requiring further testing. In high-risk results for MX/T13, amniocentesis would appear to be the most appropriate follow-up diagnostic test, especially in the absence of sonographic findings.


Assuntos
Testes para Triagem do Soro Materno , Trissomia , Reações Falso-Positivas , Feminino , Humanos , Mosaicismo , Gravidez , Estudos Retrospectivos
16.
Prenat Diagn ; 35(8): 801-9, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25962607

RESUMO

OBJECTIVES: The implementation of chromosomal microarray analysis (CMA) in prenatal testing for all patients has not achieved a consensus. Technical alternatives such as Prenatal BACs-on-Beads(TM) (PNBoBs(TM) ) have thus been applied. The aim of this study was to provide the frequencies of the submicroscopic defects detectable by PNBoBs(TM) under different prenatal indications. METHODS: A total of 9648 prenatal samples were prospectively analyzed by karyotyping plus PNBoBs(TM) and classified by prenatal indication. The frequencies of the genomic defects and their 95%CIs were calculated for each indication. RESULTS: The overall incidence of cryptic imbalances was 0.7%. The majority involved the DiGeorge syndrome critical region (DGS). The additional diagnostic yield of PNBoBs(TM) in the population with a low a priori risk was 1/298. The prevalences of DGS microdeletion and microduplication in the low-risk population were 1/992 and 1/850, respectively. CONCLUSIONS: The constant a priori risk for common pathogenic cryptic imbalances detected by this technology is estimated to be ~0.3%. A prevalence higher than that previously estimated was found for the 22q11.2 microdeletion. Their frequencies were independent of maternal age. These data have implications for cell-free DNA screening tests design and justify prenatal screening for 22q11 deletion, as early recognition of DGS improves its prognosis.


Assuntos
Deleção Cromossômica , Transtornos Cromossômicos/diagnóstico , Duplicação Cromossômica , Cariotipagem/métodos , Diagnóstico Pré-Natal/métodos , Adulto , Transtornos Cromossômicos/epidemiologia , Transtornos Cromossômicos/genética , Feminino , Seguimentos , Humanos , Incidência , Gravidez , Prevalência , Estudos Retrospectivos , Sensibilidade e Especificidade
17.
Genet Med ; 16(8): 620-4, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24525917

RESUMO

PURPOSE: Noninvasive prenatal screening for fetal aneuploidy analyzes cell-free fetal DNA circulating in the maternal plasma. Because cell-free fetal DNA is mainly of placental trophoblast origin, false-positive and false-negative findings may result from placental mosaicism. The aim of this study was to calculate the potential contribution of placental mosaicism in discordant results of noninvasive prenatal screening. METHODS: We performed a retrospective audit of 52,673 chorionic villus samples in which cytogenetic analysis of the cytotrophoblast (direct) and villus mesenchyme (culture) was performed, which was followed by confirmatory amniocentesis in chorionic villi mosaic cases. Using cases in which cytogenetic discordance between cytotrophoblast and amniotic fluid samples was identified, we calculated the potential contribution of cell line-specific mosaicism to false-positive and false-negative results of noninvasive prenatal screening. RESULTS: The false-positive rate, secondary to the presence of abnormal cell line with common trisomies in cytotrophoblast and normal amniotic fluid, ranged from 1/1,065 to 1/3,931 at 10% and 100% mosaicism, respectively; the false-negative rate was calculated from cases of true fetal mosaicism, in which a mosaic cell line was absent in cytotrophoblast and present in the fetus; this occurred in 1/107 cases. CONCLUSION: Despite exciting advances, underlying biologic mechanisms will never allow 100% sensitivity or specificity.


Assuntos
Mosaicismo/embriologia , Diagnóstico Pré-Natal/métodos , Trissomia/diagnóstico , Trofoblastos/citologia , Amostra da Vilosidade Coriônica , DNA/análise , Feminino , Humanos , Cariótipo , Cariotipagem , Gravidez , Estudos Retrospectivos
18.
Prenat Diagn ; 34(5): 460-8, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24436202

RESUMO

OBJECTIVE: The risk of clinical consequences in prenatal cases with de novo small supernumerary marker chromosomes (sSMC), often in mosaic conditions, is not easy to predict, which results in difficulties in genetic counseling. METHOD: In this study, we evaluated the frequency, the chromosomal origin, and the clinical indication of 104 de novo sSMC detected in a monocenter survey on the basis of 143,000 consecutive prenatal diagnoses, and we assessed the reliability of molecular cytogenetics technologies for sSMC characterization. RESULTS: We detected a de novo sSMC frequency of 0.072%. Its incidence in advanced maternal age group is statistically different from that found in maternal anxiety indication (<35 years old). A higher prevalence of mosaicism in chorionic villi sampling (CVS) than in amniotic fluids was also revealed related to confined placental mosaicisms. The risk of confirmation in amniotic fluids of mosaics previously revealed at CVS was 33.3%. No uniparental disomy conditions were found when imprinted chromosomes were involved in the occurrence of de novo sSMC. The majority of de novo sSMC were acrocentric derived-chromosomes, and a neocentromere formation was observed in one pregnancy. CONCLUSION: Our data support that array comparative genomic hybridization has improved sSMC characterization and demonstrate its utility in supporting genetic counseling. We propose a workflow for de novo sSMC characterization.


Assuntos
Aberrações Cromossômicas/estatística & dados numéricos , Análise Citogenética/métodos , Mosaicismo/estatística & dados numéricos , Diagnóstico Pré-Natal , Adulto , Cromossomos , Hibridização Genômica Comparativa/métodos , Hibridização Genômica Comparativa/estatística & dados numéricos , Análise Citogenética/estatística & dados numéricos , Feminino , Marcadores Genéticos , Humanos , Incidência , Masculino , Gravidez , Reprodutibilidade dos Testes
19.
Sci Data ; 11(1): 413, 2024 Apr 22.
Artigo em Inglês | MEDLINE | ID: mdl-38649341

RESUMO

CROPGRIDS is a comprehensive global geo-referenced dataset providing area information for 173 crops for the year 2020, at a resolution of 0.05° (about 5.6 km at the equator). It represents a major update of the Monfreda et al. (2008) dataset (hereafter MRF), the most widely used geospatial dataset previously available, covering 175 crops with reference year 2000 at 10 km spatial resolution. CROPGRIDS builds on information originally provided in MRF and expands it using 27 selected published gridded datasets, subnational data of 52 countries obtained from National Statistical Offices, and the 2020 national-level statistics from FAOSTAT, providing more recent harvested and crop (physical) areas for 173 crops at regional, national, and global levels. The CROPGRIDS data advance the current state of knowledge on the spatial distribution of crops, providing useful inputs for modelling studies and sustainability analyses relevant to national and international processes.


Assuntos
Produtos Agrícolas
20.
Nat Commun ; 15(1): 3862, 2024 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-38719912

RESUMO

Land degradation is a complex socio-environmental threat, which generally occurs as multiple concurrent pathways that remain largely unexplored in Europe. Here we present an unprecedented analysis of land multi-degradation in 40 continental countries, using twelve dataset-based processes that were modelled as land degradation convergence and combination pathways in Europe's agricultural (and arable) environments. Using a Land Multi-degradation Index, we find that up to 27%, 35% and 22% of continental agricultural (~2 million km2) and arable (~1.1 million km2) lands are currently threatened by one, two, and three drivers of degradation, while 10-11% of pan-European agricultural/arable landscapes are cumulatively affected by four and at least five concurrent processes. We also explore the complex pattern of spatially interacting processes, emphasizing the major combinations of land degradation pathways across continental and national boundaries. Our results will enable policymakers to develop knowledge-based strategies for land degradation mitigation and other critical European sustainable development goals.

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