124 research outputs found

    Aberrant right subclavian artery as soft marker in the diagnosis of trisomy 21 during the first trimester of pregnancy

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    Purpose: Aberrant right subclavian artery is an anatomical variation with a prevalence of around 0.5–1.5% of the general population, being more frequently found among people with chromosomopathies, especially, trisomy 21. Despite being an anatomical finding, and thus, constant through the whole pregnancy, its value in the diagnosis of aneuploidies during the first trimester of pregnancy has been little studied. The aim of this study is to evaluate the reliability of the first-trimester ultrasound in the diagnosis of ARSA and its utility in the early diagnosis of aneuploidies. Methods: This was a descriptive, observational, cross-sectional study that included all fetuses with sonographic diagnosis of ARSA between 2011 and 2018. Results: There were 257 cases of ARSA diagnosed. The first-trimester ultrasound showed the following results in the detection of ARSA: sensitivity of 68% (CI 95% 60.8%–74.5%), specificity of 99.9% (CI 95% 99.9%–100%), positive predictive value of 93.7% (CI 95% 88.1%–96.8%), and negative predictive value of 99.6% (CI 95% 99.5%–99.7%). Due to the presence of ARSA, two cases of trisomy 21, that would have been missed in the first trimester, were diagnosed, using ARSA as a soft marker and modifying the risk obtained by the combined screening as part of the genetic sonogram of the first trimester. Conclusions: ARSA visualization during the first-trimester ultrasound is trustworthy and it can improve the detection of trisomy 21 in some cases of aneuploidy missed during the combined screening of the first trimeste

    The Implications of the Second-Person Perspective for Personhood: An Application to the case of Human Infants and Non-human Primates

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    This paper proposes an intermediate account of personhood, based on the capacity to participate in intersubjective interactions. We articulate our proposal as a reply to liberal and restrictive accounts, taking Mark Rowlands’ and Stephen Darwall’s proposals as contemporary representatives of each view, respectively. We argue that both accounts fall short of dealing with borderline cases and defend our intermediate view: The criteria of personhood based on the second-person perspective of mental state attribution. According to it, a person should be able to participate in intersubjective interactions. We apply our proposal to the borderline cases of non-human primates and human infants

    Factores sociodemográficos y estilo de vida asociados con la obesidad abdominal durante la adolescencia media en México

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    Objetivo: Analizar la asociación entre los factores sociodemográficos y el estilo de vida con la presencia de obesidad abdominal en la adolescencia media en Hidalgo, México.  Método: Estudio transversal analítico, realizado en una muestra no probabilística de 172 adolescentes de 15 a 18 años y de ambos sexos. Los factores sociodemográficos se identificaron mediante un cuestionario de datos generales. La información del estilo de vida se obtuvo con el cuestionario Perfil de Estilo de Vida, integrado por seis dimensiones: nutrición, ejercicio, responsabilidad en salud, manejo del estrés, soporte interpersonal y autoactualización. Se midió la circunferencia de cintura y se calcularon los percentiles para la edad y sexo de cada participante; quienes presentaron un percentil de circunferencia de cintura ≥90 se consideraron con presencia de obesidad abdominal. Las asociaciones se evaluaron mediante modelos de regresión logística ajustados por confusores. Resultados principales: El 22,5% de los participantes presentó obesidad abdominal. La posibilidad de presentar dicha afección fue mayor en las mujeres (razón de momios ajustada [RMa]=2,46; valor p=0,02) y en adolescentes cuyos padres RMa=2,25; valor p=0,04) y madres (RM= 2,97; valor p=0,01) tuvieron escolaridad de secundaria o menos. Además, los adolescentes con estilo de vida global no saludable tuvieron más posibilidades de presentar obesidad abdominal (RMa= 5,69; valor p=0,01). Conclusión general: El sexo, la escolaridad de los padres y el estilo de vida global se asociaron con mayor posibilidad de presentar obesidad abdominal durante la adolescencia media en población mexicana

    Low levels of CIITA and high levels of SOCS1 predict COVID-19 disease severity in children and adults

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    It is unclear why COVID-19 ranges from asymptomatic to severe. When SARS-CoV-2 is detected, interferon (IFN) response is activated. When it is insufficient or delayed, it might lead to overproduction of cytokines and severe COVID-19. The aim was to compare cytokine and IFN patterns in children and adults with differing severity with SARS-CoV-2.It was a prospective, observational study, including 84 patients. Patients with moderate/severe disease had higher cytokines' values than patients with mild disease (p< 0.001).Two IFN genes were selected to build a decision tree for severity classification: SOCS1 (representative of the rest of the IFN genes) and CIITA (inverse correlation). Low values of CIITA and high values of SOCS1 indicated severe disease. This method correctly classified 33/38(86.8%) of children and 27/34 (79.4%) of adults. To conclude, patients with severe disease had an elevated cytokine pattern, which correlated with the IFN response, with low CIITA and high SOCS1 values.This study was supported by the projects PI18/00223, FI19/00208 and PI21/00211 to LA, integrated in the Plan Nacional de I + D + I and co-financed by the ISCIII– Subdirección General de Evaluación y Fomento de la Investigación Sanitaria – and the Fondo Europeo de Desarrollo Regional (FEDER), by Pla Estratègic de Recerca i Innovació en Salut (PERIS), Departament de Salut, Generalitat de Catalunya (SLT006/17/00199 to LA), and by CERCA Program/Generalitat de Catalunya. It was also partially funded by the Stavros Niarchos Foundation (SNF), Banco Santander, and other private donors of ‘‘KidsCorona platform’’ from Hospital Sant Joan de Déu.Peer ReviewedPostprint (published version

    New Proposal of Epiphytic Bromeliaceae Functional Groups to Include Nebulophytes and Shallow Tanks

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    The Bromeliaceae family has been used as a model to study adaptive radiation due to its terrestrial, epilithic, and epiphytic habits with wide morpho-physiological variation. Functional groups described by Pittendrigh in 1948 have been an integral part of ecophysiological studies. In the current study, we revisited the functional groups of epiphytic bromeliads using a 204 species trait database sampled throughout the Americas. Our objective was to define epiphytic functional groups within bromeliads based on unsupervised classification, including species from the dry to the wet end of the Neotropics. We performed a hierarchical cluster analysis with 16 functional traits and a discriminant analysis, to test for the separation between these groups. Herbarium records were used to map species distributions and to analyze the climate and ecosystems inhabited. The clustering supported five groups, C3 tank and CAM tank bromeliads with deep tanks, while the atmospheric group (according to Pittendrigh) was divided into nebulophytes, bromeliads with shallow tanks, and bromeliads with pseudobulbs. The two former groups showed distinct traits related to resource (water) acquisition, such as fog (nebulophytes) and dew (shallow tanks). We discuss how the functional traits relate to the ecosystems inhabited and the relevance of acknowledging the new functional groups

    Risk categories in COVID-19 based on degrees of inflammation: data on more than 17,000 patients from the Spanish SEMI-COVID-19 registry

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    Background: the inflammation or cytokine storm that accompanies COVID-19 marks the prognosis. This study aimed to identify three risk categories based on inflammatory parameters on admission. Methods: retrospective cohort study of patients diagnosed with COVID-19, collected and followed-up from 1 March to 31 July 2020, from the nationwide Spanish SEMI-COVID-19 Registry. The three categories of low, intermediate, and high risk were determined by taking into consideration the terciles of the total lymphocyte count and the values of C-reactive protein, lactate dehydrogenase, ferritin, and D-dimer taken at the time of admission. Results: a total of 17,122 patients were included in the study. The high-risk group was older (57.9 vs. 64.2 vs. 70.4 years; p < 0.001) and predominantly male (37.5% vs. 46.9% vs. 60.1%; p < 0.001). They had a higher degree of dependence in daily tasks prior to admission (moderate-severe dependency in 10.8% vs. 14.1% vs. 17%; p < 0.001), arterial hypertension (36.9% vs. 45.2% vs. 52.8%; p < 0.001), dyslipidemia (28.4% vs. 37% vs. 40.6%; p < 0.001), diabetes mellitus (11.9% vs. 17.1% vs. 20.5%; p < 0.001), ischemic heart disease (3.7% vs. 6.5% vs. 8.4%; p < 0.001), heart failure (3.4% vs. 5.2% vs. 7.6%; p < 0.001), liver disease (1.1% vs. 3% vs. 3.9%; p = 0.002), chronic renal failure (2.3% vs. 3.6% vs. 6.7%; p < 0.001), cancer (6.5% vs. 7.2% vs. 11.1%; p < 0.001), and chronic obstructive pulmonary disease (5.7% vs. 5.4% vs. 7.1%; p < 0.001). They presented more frequently with fever, dyspnea, and vomiting. These patients more frequently required high flow nasal cannula (3.1% vs. 4.4% vs. 9.7%; p < 0.001), non-invasive mechanical ventilation (0.9% vs. 3% vs. 6.3%; p < 0.001), invasive mechanical ventilation (0.6% vs. 2.7% vs. 8.7%; p < 0.001), and ICU admission (0.9% vs. 3.6% vs. 10.6%; p < 0.001), and had a higher percentage of in-hospital mortality (2.3% vs. 6.2% vs. 23.9%; p < 0.001). The three risk categories proved to be an independent risk factor in multivariate analyses. Conclusion: the present study identifies three risk categories for the requirement of high flow nasal cannula, mechanical ventilation, ICU admission, and in-hospital mortality based on lymphopenia and inflammatory parameters

    Evaluation of 12 GWAS-drawn SNPs as biomarkers of rheumatoid arthritis response to TNF inhibitors. A potential SNP association with response to etanercept

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    Research in rheumatoid arthritis (RA) is increasingly focused on the discovery of biomarkers that could enable personalized treatments. The genetic biomarkers associated with the response to TNF inhibitors (TNFi) are among the most studied. They include 12 SNPs exhibiting promising results in the three largest genome-wide association studies (GWAS). However, they still require further validation. With this aim, we assessed their association with response to TNFi in a replication study, and a meta-analysis summarizing all non-redundant data. The replication involved 755 patients with RA that were treated for the first time with a biologic drug, which was either infliximab (n = 397), etanercept (n = 155) or adalimumab (n = 203). Their DNA samples were successfully genotyped with a single-base extension multiplex method. Lamentably, none of the 12 SNPs was associated with response to the TNFi in the replication study (p > 0.05). However, a drug-stratified exploratory analysis revealed a significant association of the NUBPL rs2378945 SNP with a poor response to etanercept (B = -0.50, 95% CI = -0.82, -0.17, p = 0.003). In addition, the meta-analysis reinforced the previous association of three SNPs: rs2378945, rs12142623, and rs4651370. In contrast, five of the remaining SNPs were less associated than before, and the other four SNPs were no longer associated with the response to treatment. In summary, our results highlight the complexity of the pharmacogenetics of TNFi in RA showing that it could involve a drug-specific component and clarifying the status of the 12 GWAS-drawn SNP

    Changes in Liver Lipidomic Profile in G2019S- LRRK2 Mouse Model of Parkinson's Disease

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    15 páginas, 4 figurasThe identification of Parkinson's disease (PD) biomarkers has become a main goal for the diagnosis of this neurodegenerative disorder. PD has not only been intrinsically related to neurological problems, but also to a series of alterations in peripheral metabolism. The purpose of this study was to identify metabolic changes in the liver in mouse models of PD with the scope of finding new peripheral biomarkers for PD diagnosis. To achieve this goal, we used mass spectrometry technology to determine the complete metabolomic profile of liver and striatal tissue samples from WT mice, 6-hydroxydopamine-treated mice (idiopathic model) and mice affected by the G2019S-LRRK2 mutation in LRRK2/PARK8 gene (genetic model). This analysis revealed that the metabolism of carbohydrates, nucleotides and nucleosides was similarly altered in the liver from the two PD mouse models. However, long-chain fatty acids, phosphatidylcholine and other related lipid metabolites were only altered in hepatocytes from G2019S-LRRK2 mice. In summary, these results reveal specific differences, mainly in lipid metabolism, between idiopathic and genetic PD models in peripheral tissues and open up new possibilities to better understand the etiology of this neurological disorder.This research was supported by “Instituto de Salud Carlos III”, “Fondo de Investigaciones Sanitarias” (PI15/0034), “CIBERNED-ISCIII” (CB06/05/0041 and 2015/03), and partially supported by “European Regional Development Fund (ERDF)” from the European Union. J.M.B.-S.P. is funded by “Ramon y Cajal Program” (RYC-2018-025099-I) and supported by Spain’s Ministerio de Ciencia e Innovación (PID2019-108827RA-I00). Y.C.N. and L.M.G. are funded by Community of Madrid (CT5/21/PEJ-2020-TL/BMD-17685 and CT36/22-41-UCM-INV respectively). S.M.S.Y.-D. was supported by CIBERNED-ISCIII. P.M.-C. is funded by the MINECO Spanish Ministry (FPI grant, PRE2020-092668). M.N.-S. was funded by “Ramon y Cajal Program” (RYC-2016-20883). E.U.-C. and S.C.-C. were supported by an FPU predoctoral fellowship (FPU16/00684) and FPU19/04435), respectively, from “Ministerio de Educación, Cultura y Deporte”. M.P-B was funded by a University of Extremadura fellowship. E.A-C was supported by a Grant (IB18048) from Junta de Extremadura, Spain. J.M.F. received research support from the “Instituto de Salud Carlos III”; “Fondo de Investigaciones Sanitarias” (PI15/0034) and CIBERNED-ISCIII (CB06/05/0041 and 2015/03). A.P.-C. was supported by MINECO (SAF2014-52940-R and SAF2017-85199-P). J.P.-T. received funding from CIBERNED-ISCIII (CB06/05/1123 and 2015/03). G.K. is supported by the Ligue contre le Cancer (équipe labellisée); Agence National de la Recherche (ANR)—Projets blancs; ANR under the frame of E-Rare-2, the ERANet for Research on Rare Diseases; AMMICa US/CNRS UMS3655; Association pour la recherche sur le cancer (ARC); Association “Le Cancer du Sein, Parlons-en!”; Cancéropôle Ile de-France; Chancelerie des universités de Paris (Legs Poix), Fondation pour la Recherche Médicale (FRM); a donation by Elior; European Research Area Network on Cardiovascular Diseases (ERA-CVD, MINOTAUR); Gustave Roussy Odyssea, the European Union Horizon 2020 Project Oncobiome; Fondation Carrefour; High-end Foreign Expert Program in China (GDW20171100085), Institut National du Cancer (INCa); Inserm (HTE); Institut Universitaire de France; LeDucq Foundation; the LabEx Immuno-Oncology (ANR-18-IDEX-0001); the RHU Torino Lumière; the Seerave Foundation; the SIRIC Stratified Oncology Cell DNA Repair and Tumor Immune Elimination (SOCRATE); and the SIRIC Cancer Research and Personalized Medicine (CARPEM).Peer reviewe
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