Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 449
Filtrar
Más filtros

Intervalo de año de publicación
1.
PLoS Biol ; 20(5): e3001622, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-35609439

RESUMEN

Dihydrouridine is a modified nucleotide universally present in tRNAs, but the complete dihydrouridine landscape is unknown in any organism. We introduce dihydrouridine sequencing (D-seq) for transcriptome-wide mapping of D with single-nucleotide resolution and use it to uncover novel classes of dihydrouridine-containing RNA in yeast which include mRNA and small nucleolar RNA (snoRNA). The novel D sites are concentrated in conserved stem-loop regions consistent with a role for D in folding many functional RNA structures. We demonstrate dihydrouridine synthase (DUS)-dependent changes in splicing of a D-containing pre-mRNA in cells and show that D-modified mRNAs can be efficiently translated by eukaryotic ribosomes in vitro. This work establishes D as a new functional component of the mRNA epitranscriptome and paves the way for identifying the RNA targets of multiple DUS enzymes that are dysregulated in human disease.


Asunto(s)
ARN , Transcriptoma , Humanos , Nucleótidos , ARN/química , ARN Mensajero/genética , Saccharomyces cerevisiae/genética , Transcriptoma/genética
2.
Respir Res ; 25(1): 260, 2024 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-38926693

RESUMEN

BACKGROUND: The PI*S variant is one of the most prevalent mutations within alpha-1 antitrypsin deficiency (AATD). The risk of developing AATD-related lung disease in individuals with the PI*SS genotype is poorly defined despite its substantial prevalence. Our study aimed to characterize this genotype and its risk for lung disease and compare it with the PI*ZZ and PI*SZ genotypes using data from the European Alpha-1 antitrypsin Deficiency Research Collaboration international registry. METHOD: Demographic, clinical, functional, and quality of life (QoL) parameters were assessed to compare the PI*SS characteristics with the PI*SZ and PI*ZZ controls. A propensity score with 1:3 nearest-neighbour matching was performed for the most important confounding variables. RESULTS: The study included 1007 individuals, with PI*SS (n = 56; 5.6%), PI*ZZ (n = 578; 57.4%) and PI*SZ (n = 373; 37.0%). The PI*SS population consisted of 58.9% men, with a mean age of 59.2 years and a mean FEV1(% predicted) of 83.4%. Compared to PI*ZZ individuals they had less frequent lung disease (71.4% vs. 82.2%, p = 0.037), COPD (41.4% vs. 60%, p = 0.002), and emphysema (23.2% vs. 51.9%, p < 0.001) and better preserved lung function, fewer exacerbations, lower level of dyspnoea, and better QoL. In contrast, no significant differences were found in the prevalence of lung diseases between PI*SS and PI*SZ, or lung function parameters, exacerbations, dyspnoea, or QoL. CONCLUSIONS: We found that, as expected, the risk of lung disease associated with the PI*SS genotype is significantly lower compared with PI*ZZ, but does not differ from that observed in PI*SZ individuals, despite having higher serum AAT levels. TRIAL REGISTRATION: www. CLINICALTRIALS: gov (ID: NCT04180319).


Asunto(s)
Genotipo , Deficiencia de alfa 1-Antitripsina , alfa 1-Antitripsina , Humanos , Masculino , Femenino , Persona de Mediana Edad , alfa 1-Antitripsina/genética , Deficiencia de alfa 1-Antitripsina/genética , Deficiencia de alfa 1-Antitripsina/epidemiología , Deficiencia de alfa 1-Antitripsina/diagnóstico , Anciano , Enfermedades Pulmonares/genética , Enfermedades Pulmonares/epidemiología , Enfermedades Pulmonares/diagnóstico , Factores de Riesgo , Sistema de Registros , Calidad de Vida
4.
Int J Mol Sci ; 25(15)2024 Jul 27.
Artículo en Inglés | MEDLINE | ID: mdl-39125781

RESUMEN

Leishmaniasis is an infectious disease caused by protozoa of the genus Leishmania, which is endemic in certain areas of Europe, such as southern Spain. The disease manifests in various clinical phenotypes, including visceral, cutaneous, mucosal, or asymptomatic leishmaniasis. This diversity in clinical outcomes may be influenced by the host immune response, with human leukocyte antigen (HLA) molecules playing a crucial role in determining susceptibility and progression of the infection. This study explores the association between specific HLA variants and Leishmania infantum infection. We recruited four cohorts: a control group, asymptomatic individuals, patients with symptomatic disease, and cohabitants of infected individuals. HLA typing was performed for all participants, followed by an association analysis with infection status and disease progression. Our findings indicate that the HLA-B*38 and HLA-C*03 alleles are associated with protection against L. infantum infection. These results contribute to a better understanding of the disease's progression, offer potential for new therapeutic approaches such as vaccines, and expand the existing knowledge in the literature.


Asunto(s)
Alelos , Leishmania infantum , Humanos , Leishmania infantum/genética , España/epidemiología , Masculino , Femenino , Adulto , Predisposición Genética a la Enfermedad , Leishmaniasis Visceral/genética , Leishmaniasis Visceral/parasitología , Leishmaniasis Visceral/inmunología , Leishmaniasis Visceral/epidemiología , Estudios de Cohortes , Persona de Mediana Edad , Antígenos HLA/genética , Frecuencia de los Genes
5.
J Environ Manage ; 365: 121695, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38968891

RESUMEN

Pyric herbivory, the combination of controlled burning and targeted grazing, is an effective strategy for restoring abandoned, shrub-encroached rangelands to open ecosystems. This practice may impact soil nitrogen pools by altering soil nitrification and denitrification rates, and may lead to an increase of nitrogen losses through nitrate leaching and N-gas emissions. This research, located in the south-western Pyrenees, investigated the effects of pyric herbivory on soil nitrification and denitrification potentials and mineral nitrogen content in a gorse-encroached temperate rangeland six months after the burning was implemented. The study included three treatments: high-severity burning plus grazing, low-severity burning plus grazing, and unburned and ungrazed areas (control). We measured soil nitrification and denitrification potentials (net and gross), the limitation of denitrifiers by nitrogen or organic carbon, and the abundance of nitrite- and nitrous oxide-reducing bacteria. Additional soil and vegetation data complemented these measurements. Results showed that pyric herbivory did not significantly affect nitrification potential, which was low and highly variable. However, it decreased gross denitrification potential and nitrous oxide reduction to dinitrogen in high-severely burned areas compared to the control. Denitrification rates directly correlated with microbial biomass nitrogen, soil organic carbon, soil water content and abundance of nirS-harbouring bacteria. Contrary to the expected, soil nitrate availability did not directly influence denitrification despite being highest in burned areas. Overall, the study suggests that pyric herbivory does not significantly affect mid-term nitrification rates in temperate open ecosystems, but may decrease denitrification rates in intensely burned areas. These findings highlight the importance of assessing the potential impacts of land management practices, such as pyric herbivory, on soil nutrient cycling and ecosystem functioning.


Asunto(s)
Desnitrificación , Pradera , Herbivoria , Nitratos , Suelo , Suelo/química , Nitratos/metabolismo , Nitratos/análisis , Nitrógeno/metabolismo , Nitrificación , Animales
6.
J Perinat Neonatal Nurs ; 38(1): E3-E13, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37319350

RESUMEN

BACKGROUND: Nursing and midwifery students do not feel adequately prepared during their clinical training to support women who breastfeed, demanding more effective communication skills and knowledge. AIM: The aim was to evaluate changes in students' breastfeeding knowledge. METHODS: This was a mixed-methods quasi-experimental design. Forty students voluntarily participated. Using a 1:1 ratio, 2 groups were randomly created and completed the validated questionnaire ECoLaE (pre-post). The educational program consisted of focus groups, a clinical simulation, and a visit to the local breastfeeding association. FINDINGS: The control group's posttest scores ranged from 6 to 20 (mean = 13.1, standard deviation [SD] = 3.0). The intervention group ranged from 12 to 20 (mean = 17.3, SD = 2.3). A Student's t test for independence samples was calculated ( P < .005, t = 4.5, median = 4.2). The intervention group had a mean difference of 10 points in improvement (mean =10.53, SD = 2.20, min = 7, max = 14), whereas the control group had a mean of 6 points (mean = 6.80, SD = 3.03, min = 3, max = 13). The multiple linear regression explained the intervention's effect. The regression model had statistical significance ( F = 4.87, P = 0.004), with an adjusted R2 = 0.31. The linear regression between the posttest scores and group variables after adjusting by age showed an increment of 4.1 points in the intervention posttest scores ( P < .005, 95% confidence interval [CI] = 2.1-6.1). CONCLUSIONS: The educational program "Engage in breaking the barriers to breastfeeding" improved nursing students' knowledge.


Asunto(s)
Bachillerato en Enfermería , Estudiantes de Enfermería , Humanos , Femenino , Lactancia Materna , Encuestas y Cuestionarios , Grupos Focales , Proyectos de Investigación
7.
BMC Health Serv Res ; 23(1): 98, 2023 Jan 30.
Artículo en Inglés | MEDLINE | ID: mdl-36717880

RESUMEN

BACKGROUND: Patients with alpha-1 antitrypsin deficiency (AATD), commonly categorized as a rare disease, have been affected by the changes in healthcare management brought about by COVID-19. This study's aim was to identify the changes that have taken place in AATD patient care as a result of the COVID-19 pandemic in Spain and to propose experts' recommendations aimed at ensuring humanized and quality care for people with AATD in the post-pandemic situation. METHODS: A qualitative descriptive case study with a holistic single-case design was conducted, using focus groups with experts in AATD clinical management, including 15 health professionals with ties to the Spanish health system (12 pneumologists and 2 hospital pharmacists from 11 different hospitals in Spain) and 1 patient representative. RESULTS: COVID-19 has had a major impact on numerous aspects of AATD clinical patient management in Spain, including diagnostic, treatment, and follow-up phases. The experts concluded that there is a need to strengthen coordination between Primary Care and Hospital Care and improve the coordination processes across all the organizations and actors involved in the healthcare system. Regarding telemedicine and telecare, experts have concluded that it is necessary to promote this methodology and to develop protocols and training programs. Experts have recommended developing personalized and precision medicine, and patient participation in decision-making, promoting self-care and patient autonomy to optimize their healthcare and improve their quality of life. The possibility of monitoring and treating AATD patients from home has also been proposed by experts. Another result of the study was the recommendation of the need to ensure that plasma donations are made on a regular basis by a sufficient number of healthy individuals. CONCLUSION: The study advances knowledge by highlighting the challenges faced by health professionals and changes in AATD patient management in the context of the COVID-19 pandemic. It also proposes experts' recommendations aimed at ensuring humanized and quality care for people with AATD in the post-pandemic situation. This work could serve as a reference study for physicians on their daily clinical practice with AATD patients and may also provide guidance on the changes to be put in place for the post-pandemic situation.


Asunto(s)
COVID-19 , Enfermedad Pulmonar Obstructiva Crónica , Deficiencia de alfa 1-Antitripsina , Humanos , Pandemias , Calidad de Vida , COVID-19/epidemiología , Deficiencia de alfa 1-Antitripsina/diagnóstico , Deficiencia de alfa 1-Antitripsina/tratamiento farmacológico , Atención a la Salud , Enfermedad Pulmonar Obstructiva Crónica/terapia
8.
Arch Gynecol Obstet ; 307(1): 285-292, 2023 01.
Artículo en Inglés | MEDLINE | ID: mdl-35486155

RESUMEN

PURPOSE: To evaluate the performance of chromosomal microarray analysis (CMA) in fetuses with nuchal translucency (NT) > 95th percentile. Secondary objectives were to analyze these results according to NT thickness, below or above 3.5 mm, and those without associated anomalies. METHODS: This observational single-cohort study was conducted between 2015 and 2018 in fetuses with NT > 95th percentile. Following an invasive test, quantitative fluorescence-polymerase chain reaction (QF-PCR) was performed, and if normal, CMA was performed. Pathogenic copy number variants (CNVs), non-reported pathogenic CNV, pathogenic autosomal recessive variants and variants of unknown significance (VUS) were analysed. RESULTS: One-hundred and sixty-two fetuses with NT > 95th percentile, normal QF-PCR and CMA were included. Amongst 128 fetuses with NT between the 95th percentile and 3.5 mm, one (0.8%) had a pathogenic CNV, four (3.1%) had non-reported pathogenic CNV, one (0.8%) had pathogenic autosomal recessive variant and 13 (10.2%) had VUS. Amongst 34 fetuses with NT ≥ 3.5 mm, four (11.8%) had pathogenic CNV, one (2.9%) had non-reported pathogenic CNV, one (2.9%) had pathogenic autosomal recessive variant and four (11.8%) had VUS. Four in 162 (2.5%) fetuses had CNVs at the chromosome 16p13.11 region. Amongst 154 fetuses without structural abnormalities and normal QF-PCR, three (1.9%) had a pathogenic CNV, 5 (3.2%) had non-reported pathogenic CNV, one (0.6%) autosomal recessive pathogenic CNV and 16 (10.4%) had VUS. CONCLUSION: Pathogenic CNVs were found in 1% of fetuses with an NT thickness between the 95th percentile and 3.5 mm and in 12% of fetuses with NT ≥ 3.5 mm. CNVs were found at the 16p13.11 region in 2.5% of cases.


Asunto(s)
Aberraciones Cromosómicas , Medida de Translucencia Nucal , Embarazo , Femenino , Humanos , Medida de Translucencia Nucal/métodos , Diagnóstico Prenatal/métodos , Estudios de Cohortes , Feto/diagnóstico por imagen
9.
Int J Mol Sci ; 24(9)2023 May 04.
Artículo en Inglés | MEDLINE | ID: mdl-37175931

RESUMEN

The aim of this study is to evaluate molecules involved in oxidative stress (OS), inflammation, angiogenesis, and apoptosis, and discern which of these are more likely to be implicated in proliferative diabetic retinopathy (PDR) and diabetic macular edema (DME) by investigating the correlation between them in the plasma (PLS) and vitreous body (VIT), as well as examining data obtained from ophthalmological examinations. Type 2 diabetic (T2DM) patients with PDR/DME (PDRG/DMEG; n = 112) and non-DM subjects as the surrogate controls (SCG n = 48) were selected according to the inclusion/exclusion criteria and programming for vitrectomy, either due to having PDR/DME or macular hole (MH)/epiretinal membrane (ERM)/rhegmatogenous retinal detachment. Blood samples were collected and processed to determine the glycemic profile, total cholesterol, and C reactive protein, as well as the malondialdehyde (MDA), 4-hydroxynonenal (4HNE), superoxide dismutase (SOD), and catalase (CAT) levels and total antioxidant capacity (TAC). In addition, interleukin 6 (IL6), vascular endothelial growth factor (VEGF), and caspase 3 (CAS3) were assayed. The VITs were collected and processed to measure the expression levels of all the abovementioned molecules. Statistical analyses were conducted using the R Core Team (2022) program, including group comparisons and correlation analyses. Compared with the SCG, our findings support the presence of molecules involved in OS, inflammation, angiogenesis, and apoptosis in the PLS and VIT samples from T2DM. In PLS from PDRG, there was a decrease in the antioxidant load (p < 0.001) and an increase in pro-angiogenic molecules (p < 0.001), but an increase in pro-oxidants (p < 0.001) and a decline in antioxidants (p < 0.001) intravitreally. In PLS from DMEG, pro-oxidants and pro-inflammatory molecules were augmented (p < 0.001) and the antioxidant capacity diminished (p < 0.001), but the pro-oxidants increased (p < 0.001) and antioxidants decreased (p < 0.001) intravitreally. Furthermore, we found a positive correlation between the PLS-CAT and the VIT-SOD levels (rho = 0.5; p < 0.01) in PDRG, and a negative correlation between the PSD-4HNE and the VIT-TAC levels (rho = 0.5; p < 0.01) in DMEG. Integrative data of retinal imaging variables showed a positive correlation between the central subfield foveal thickness (CSFT) and the VIT-SOD levels (rho = 0.5; p < 0.01), and a negative correlation between the CSFT and the VIT-4HNE levels (rho = 0.4; p < 0.01) in PDRG. In DMEG, the CSFT displayed a negative correlation with the VIT-CAT (rho = 0.5; p < 0.01). Exploring the relationship of the abovementioned potential biomarkers between PLS and VIT may help detecting early molecular changes in PDR/DME, which can be used to identify patients at high risk of progression, as well as to monitor therapeutic outcomes in the diabetic retina.


Asunto(s)
Diabetes Mellitus Tipo 2 , Retinopatía Diabética , Edema Macular , Humanos , Retinopatía Diabética/metabolismo , Antioxidantes/metabolismo , Factor A de Crecimiento Endotelial Vascular/metabolismo , Especies Reactivas de Oxígeno , Estrés Oxidativo , Inflamación , Diabetes Mellitus Tipo 2/complicaciones , Superóxido Dismutasa/metabolismo
10.
Int J Mol Sci ; 24(22)2023 Nov 09.
Artículo en Inglés | MEDLINE | ID: mdl-38003316

RESUMEN

ANRIL (Antisense Noncoding RNA in the INK4 Locus), also named CDKN2B-AS1, is a long non-coding RNA with outstanding functions that regulates genes involved in atherosclerosis development. ANRIL genotypes and the expression of linear and circular isoforms have been associated with coronary artery disease (CAD). The CDKN2A and the CDKN2B genes at the CDKN2A/B locus encode the Cyclin-Dependent Kinase inhibitor protein (CDKI) p16INK4a and the p53 regulatory protein p14ARF, which are involved in cell cycle regulation, aging, senescence, and apoptosis. Abnormal ANRIL expression regulates vascular endothelial growth factor (VEGF) gene expression, and upregulated Vascular Endothelial Growth Factor (VEGF) promotes angiogenesis by activating the NF-κB signaling pathway. Here, we explored associations between determinations of the linear, circular, and linear-to-circular ANRIL gene expression ratio, CDKN2A, VEGF and its receptor kinase insert domain-containing receptor (KDR) and cardiovascular risk factors and all-cause mortality in high-risk coronary patients before they undergo coronary artery bypass grafting surgery (CABG). We found that the expression of ANRIL isoforms may help in the prediction of CAD outcomes. Linear isoforms were correlated with a worse cardiovascular risk profile while the expression of circular isoforms of ANRIL correlated with a decrease in oxidative stress. However, the determination of the linear versus circular ratio of ANRIL did not report additional information to that determined by the evaluation of individual isoforms. Although the expressions of the VEFG and KDR genes correlated with a decrease in oxidative stress, in binary logistic regression analysis it was observed that only the expression of linear isoforms of ANRIL and VEGF significantly contributed to the prediction of the number of surgical revascularizations.


Asunto(s)
Enfermedad de la Arteria Coronaria , ARN Largo no Codificante , Humanos , Enfermedad de la Arteria Coronaria/genética , Factor A de Crecimiento Endotelial Vascular , ARN Largo no Codificante/genética , ARN Largo no Codificante/metabolismo , FN-kappa B/genética , Inhibidor p16 de la Quinasa Dependiente de Ciclina/genética , Isoformas de Proteínas/genética
11.
Int J Mol Sci ; 24(7)2023 Apr 06.
Artículo en Inglés | MEDLINE | ID: mdl-37047783

RESUMEN

A nutritional intervention promotes the loss of body and visceral fat while maintaining muscle mass in breast cancer patients. Extracellular vesicles (EVs) and their characteristics can be potential biomarkers of disease. Here, we explore the changes in the Zeta potential of EVs; the content of miRNA-30, miRNA-145, and miRNA-155; and their association with body composition and biomarkers of metabolic risk in breast cancer patients, before and 6 months after a nutritional intervention. Clinicopathological data (HER2neu, estrogen receptor, and Ki67), anthropometric and body composition data, and plasma samples were available from a previous study. Plasma EVs were isolated and characterized in 16 patients. The expression of miRNA-30, miRNA-145, and miRNA-155 was analyzed. The Zeta potential was associated with HER2neu (ß = 2.1; p = 0.00), Ki67 (ß = -1.39; p = 0.007), estrogen positive (ß = 1.57; p = 0.01), weight (ß = -0.09; p = 0.00), and visceral fat (ß = 0.004; p = 0.00). miRNA-30 was associated with LDL (ß = -0.012; p = 0.01) and HDL (ß = -0.02; p = 0.05). miRNA-155 was associated with visceral fat (ß = -0.0007; p = 0.05) and Ki67 (ß = -0.47; p = 0.04). Our results reveal significant associations between the expression of miRNA-30 and miRNA-155 and the Zeta potential of the EVs with biomarkers of metabolic risk and disease prognosis in women with breast cancer; particularly, the Zeta potential of EVs can be a new biomarker sensitive to changes in the nutritional status and breast cancer progression.


Asunto(s)
Neoplasias de la Mama , Vesículas Extracelulares , MicroARNs , Humanos , Femenino , Neoplasias de la Mama/genética , Neoplasias de la Mama/metabolismo , Estado Nutricional , Antígeno Ki-67/metabolismo , Vesículas Extracelulares/genética , Vesículas Extracelulares/metabolismo , MicroARNs/metabolismo , Biomarcadores/metabolismo
12.
J Psychosoc Nurs Ment Health Serv ; 61(12): 11-18, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37256748

RESUMEN

Social media has been classified as a new form of addiction. The aim of the current systematic review was to analyze social media's impact on body image and well-being among adolescents and young adults. Twenty-one articles published from 2015 to April 2020 were analyzed. Misuse or intensive use of social media was related to body dissatisfaction, low self-esteem, risky behaviors, and eating disorders. Information manipulation, lack of media literacy, and internalization of ideal body standards trigger mental problems and risky eating behaviors in this population. [Journal of Psychosocial Nursing and Mental Health Services, 61(12), 11-18.].


Asunto(s)
Trastornos de Alimentación y de la Ingestión de Alimentos , Medios de Comunicación Sociales , Humanos , Adolescente , Adulto Joven , Imagen Corporal/psicología , Medios de Comunicación de Masas
13.
Aten Primaria ; 55(1): 102528, 2023 01.
Artículo en Español | MEDLINE | ID: mdl-36455398

RESUMEN

OBJECTIVE: To design and validate a nomophobia scale in children aged 9-13 years. DESIGN: Cross-sectional descriptive observational study. SITE: The pilot study was carried out in December 2019 with students from a school in Ávila and another in Madrid. The field study was carried out during the months of January to March 2020, collecting data from 592 students from a school in Badajoz and 3 from Ávila. PARTICIPANTS: Students of both sexes from 4th, 5th and 6th of Primary Education and from 1st and 2nd of Compulsory Secondary Education, from public and private schools. METHOD: The study has been divided in 2 phases. PHASE I: consisted of the preparation of a 40-item questionnaire with the advice of a panel of experts. This questionnaire was passed, within the pilot study, to 312 children enrolled in Primary Education or Compulsory Secondary Education. After analyzing the results, the 40-item scale was modified to improve the understanding of the schoolchildren and a field study was carried out with 592 participants. PHASE II: consisted of an exploratory factorial analysis carried out using the principal components method, which provided the distribution of the items in 7 components. After the confirmatory factorial analysis, the final 32-item scale was defined. RESULTS: This scale was shown to produce valid and reliable scores. CONCLUSIONS: The validation of this scale will be useful to identify children at risk of nomophobia, allowing educators, parents and health professionals to detect this phenomenon early in order to prevent pathological smartphone use.


Asunto(s)
Teléfono Inteligente , Estudiantes , Masculino , Femenino , Humanos , Niño , Adolescente , Estudios Transversales , Proyectos Piloto , Encuestas y Cuestionarios
14.
Br J Haematol ; 199(4): 529-538, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-36089912

RESUMEN

Available data have proved insufficient to develop consensus recommendations on the prevention of thrombosis and bleeding in myelofibrosis (MF). We evaluated the incidence and risk factors of vascular complications in 1613 patients from the Spanish Myelofibrosis Registry. Over a total of 6981 patient-years at risk, 6.4% of the study population had at least one thrombotic event after MF diagnosis, amounting to an incidence rate of 1.65 per 100 patient-years. Prior history of thrombosis, the JAK2 mutation, and the intermediate-2/high-risk International Prognostic Scoring System (IPSS) categories conferred an increased thrombotic risk after adjustment for the risk-modifying effect of anti-thrombotic and cytoreductive treatments. History of thrombosis and the JAK2 mutation allowed us to pinpoint a group of patients at higher risk of early thrombosis. No decreased incidence of thrombosis was observed while patients were on anti-thrombotic or cytoreductive treatment. An increased risk of venous thrombosis was found during treatment with immunomodulatory agents. A total of 5.3% of patients had at least one episode of major bleeding, resulting in an incidence rate of 1.5 events per 100 patient-years. Patients in the intermediate-2/high-risk IPSS categories treated with anti-coagulants had an almost sevenfold increased risk of major bleeding. These findings should prove useful for guiding decision-making in clinical practice.


Asunto(s)
Mielofibrosis Primaria , Trombocitemia Esencial , Trombosis , Humanos , Mielofibrosis Primaria/complicaciones , Mielofibrosis Primaria/tratamiento farmacológico , Mielofibrosis Primaria/genética , Trombocitemia Esencial/genética , Trombosis/epidemiología , Trombosis/etiología , Trombosis/diagnóstico , Hemorragia/diagnóstico , Sistema de Registros , Factores de Riesgo
15.
Respir Res ; 23(1): 352, 2022 Dec 16.
Artículo en Inglés | MEDLINE | ID: mdl-36527073

RESUMEN

BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a rare disease that is associated with an increased risk of pulmonary emphysema. The European AATD Research Collaboration (EARCO) international registry was founded with the objective of characterising the individuals with AATD and investigating their natural history. METHODS: The EARCO registry is an international, observational and prospective study of individuals with AATD, defined as AAT serum levels < 11 µM and/or proteinase inhibitor genotypes PI*ZZ, PI*SZ and compound heterozygotes or homozygotes of other rare deficient variants. We describe the characteristics of the individuals included from February 2020 to May 2022. RESULTS: A total of 1044 individuals from 15 countries were analysed. The most frequent genotype was PI*ZZ (60.2%), followed by PI*SZ (29.2%). Among PI*ZZ patients, emphysema was the most frequent lung disease (57.2%) followed by COPD (57.2%) and bronchiectasis (22%). Up to 76.4% had concordant values of FEV1(%) and KCO(%). Those with impairment in FEV1(%) alone had more frequently bronchiectasis and asthma and those with impairment in KCO(%) alone had more frequent emphysema and liver disease. Multivariate analysis showed that advanced age, male sex, exacerbations, increased blood platelets and neutrophils, augmentation and lower AAT serum levels were associated with worse FEV1(%). CONCLUSIONS: EARCO has recruited > 1000 individuals with AATD from 15 countries in its first 2 years. Baseline cross sectional data provide relevant information about the clinical phenotypes of the disease, the patterns of functional impairment and factors associated with poor lung function. Trial registration www. CLINICALTRIALS: gov (ID: NCT04180319).


Asunto(s)
Bronquiectasia , Enfermedad Pulmonar Obstructiva Crónica , Enfisema Pulmonar , Deficiencia de alfa 1-Antitripsina , Humanos , Masculino , alfa 1-Antitripsina/genética , Deficiencia de alfa 1-Antitripsina/diagnóstico , Deficiencia de alfa 1-Antitripsina/epidemiología , Deficiencia de alfa 1-Antitripsina/genética , Bronquiectasia/diagnóstico , Bronquiectasia/epidemiología , Estudios Transversales , Genotipo , Estudios Prospectivos , Enfermedad Pulmonar Obstructiva Crónica/genética , Enfisema Pulmonar/diagnóstico , Enfisema Pulmonar/epidemiología , Enfisema Pulmonar/complicaciones , Sistema de Registros
16.
BMC Cancer ; 22(1): 81, 2022 Jan 19.
Artículo en Inglés | MEDLINE | ID: mdl-35045822

RESUMEN

BACKGROUND: Lung cancer (LC) is the most commonly diagnosed cancer and the leading cause of cancer-related death in both sexes worldwide. Although the principal risk factor in the western world is tobacco smoking, genetic factors, including alpha-1 antitrypsin deficiency (AATD), have been associated with increased risk. This study is the continuation of an earlier one published by the same group in 2015, aimed at analysing risk of LC in never-smokers, associated with carriers of the AATD genotype. METHODS: A multicentre case-control study was conducted in Spain across the period January 2011 to August 2019. Cases were non-smokers diagnosed with LC, and controls were composed of never-smoking individuals undergoing major non-cancer-related surgery. Data were collected on epidemiological characteristics, exposure to environmental tobacco smoke (ETS), residential radon levels, and alpha-1 antitrypsin (AAT) genotype. RESULTS: The study included 457 cases (42%) and 631 controls (58%), with a predominance of women (72,8%). The most frequent histological type was adenocarcinoma (77.5%), followed by squamous cell carcinoma (7.7%). No association of risk of LC was found with the status of AATD genotype carrier, both overall and broken down by age, sex, or exposure to ETS. CONCLUSIONS: No risk association was found between being a carrier of an AAT deficiency genotype and LC among never-smokers. In order to establish the existence of an association, we consider it important to expand the studies in never smokers in different geographical areas as well as to include patients with previous chronic lung diseases to assess if it influences the risk.


Asunto(s)
Adenocarcinoma/genética , Carcinoma de Células Escamosas/genética , Predisposición Genética a la Enfermedad/epidemiología , Neoplasias Pulmonares/genética , Deficiencia de alfa 1-Antitripsina/genética , Anciano , Biomarcadores de Tumor/genética , Estudios de Casos y Controles , Femenino , Predisposición Genética a la Enfermedad/genética , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , España/epidemiología , alfa 1-Antitripsina/genética
17.
Nutr Cancer ; 74(2): 613-621, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-34431436

RESUMEN

BACKGROUND: The etiology of lung cancer in never smokers is partly unknown. We aimed to assess the effect of fruits and vegetables consumption on lung cancer risk in never smokers. METHODS: We pooled five multicenter case-control studies performed in Northwestern Spain. Cases and controls were all never smokers. All lung cancer cases had anatomopathological confirmed diagnoses. We performed a multivariate logistic regression to analyze the effect of different types of fruits and vegetables consumption on lung cancer risk. RESULTS: A total of 438 cases and 781 controls were included. We observed that a consumption from one to six times per week shows a negative association with lung cancer risk for: kiwis (OR 0.67; 95%CI 0.46-0.95), oranges (OR 0.55; 95%CI 0.37-0.80), turnip tops (OR 0.48; 95%CI 0.34-0.66), "berza gallega" (OR 0.70; 95%CI 0.51-0.97) and broccoli (OR 0.55; 95%CI 0.35-0.83) compared to less than once a week consumption. On the other hand, we found an increased risk for lung cancer with a daily consumption of tomatoes, carrots and potatoes. CONCLUSIONS: Oranges, kiwis, turnip tops, berza gallega and broccoli may play a protective role on lung cancer development in never smokers while tomatoes, carrots and potatoes might have some association with this disease.


Asunto(s)
Neoplasias Pulmonares , Verduras , Estudios de Casos y Controles , Dieta , Frutas , Humanos , Neoplasias Pulmonares/epidemiología , Neoplasias Pulmonares/etiología , Factores de Riesgo , Fumadores
18.
Int Ophthalmol ; 42(7): 2093-2105, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35043245

RESUMEN

PURPOSE: To evaluate diagnostic capacity for occludable anterior chamber angle detection with anterior segment optical coherence tomography (AS-OCT) and Pentacam. METHODS: Observational cross-sectional study with AS-OCT and Pentacam. AS-OCT measures: angle opening distance from Schwalbe line (SL) perpendicular (AOD-SL-Perp) and vertical to iris (AOD-SL-Vert), and iridotrabecular angle (ITA). Pentacam measures: anterior chamber depth (ACD), anterior chamber volume (ACV), and anterior chamber angle (ACA). We analysed Spearman's correlation with gonioscopic classification. Area under receiver operating characteristic curves (AUCs) for occludable angle detection were compared. Agreement between iridocorneal values of methods was evaluated. RESULTS: Seventy-four left eyes of 74 patients. Correlation between temporal AS-OCT and gonioscopy: 0.83 (p < 0.0001) AOD-SL-Perp temporal, 0.82 (p < 0.0001) AOD-SL-Vert temporal, and 0.69 (p < 0.0001) ITA temporal. Correlation between AS-OCT nasal and gonioscopy: 0.74 (p < 0.0001) AOD-SL-Perp nasal, 0.74 (p < 0.0001) AOD-SL-Vert nasal, and 0.70 (p < 0.0001) ITA nasal. Correlation of Pentacam with temporal gonioscopy: 0.57 (p < 0.0001) ACD, 0.56 (p < 0.0001) ACV, and 0.63 (p < 0.0001) ACA. Correlation of Pentacam with nasal gonioscopy: 0.47 (IC 0.27-0.73, p < 0.0001) ACD, 0.49 (p < 0.0001) ACV, and 0.56 (CI 0.38-0.7, p < 0.0001) ACA. AS-OCT AUCs: AOD-SL-Perp temporal 0.89 (CI 0.80-0.95), AOD-SL-Vert 0.87 (CI 0.77-0.94), ITA temporal 0.88 (CI 0.78-0.94), AOD-SL-Perp nasal 0.83 (CI 0.72-0.91), AOD-SL-Vert nasal 0.87 (CI 0.77-0.94), and ITA nasal 0.91 (IC 0.81-0.96). Pentacam AUCs: ACD 0.76 (CI 0.64-0.85), ACV 0.75 (CI 0.63-0.84), and ACA 0.84 (CI 0.74-0.92). No statistical differences between different AUCs. Intraclass correlation coefficient (ICC) of ACA (Pentacam) with ITA temporal (AS-OCT) 0.59 and with nasal ITA nasal (AS-OCT) 0.65. CONCLUSION: Both systems show high capacity for non-contact occludable angle detection. But agreement between methods is moderate or low.


Asunto(s)
Glaucoma de Ángulo Cerrado , Tomografía de Coherencia Óptica , Cámara Anterior/diagnóstico por imagen , Segmento Anterior del Ojo/diagnóstico por imagen , Estudios Transversales , Glaucoma de Ángulo Cerrado/diagnóstico , Gonioscopía , Humanos , Tomografía de Coherencia Óptica/métodos
19.
PLoS Biol ; 16(9): e2005903, 2018 09.
Artículo en Inglés | MEDLINE | ID: mdl-30208026

RESUMEN

Ribosome-binding proteins function broadly in protein synthesis, gene regulation, and cellular homeostasis, but the complete complement of functional ribosome-bound proteins remains unknown. Using quantitative mass spectrometry, we identified late-annotated short open reading frame 2 (Lso2) as a ribosome-associated protein that is broadly conserved in eukaryotes. Genome-wide crosslinking and immunoprecipitation of Lso2 and its human ortholog coiled-coil domain containing 124 (CCDC124) recovered 25S ribosomal RNA in a region near the A site that overlaps the GTPase activation center. Consistent with this location, Lso2 also crosslinked to most tRNAs. Ribosome profiling of yeast lacking LSO2 (lso2Δ) revealed global translation defects during recovery from stationary phase with translation of most genes reduced more than 4-fold. Ribosomes accumulated at start codons, were depleted from stop codons, and showed codon-specific changes in occupancy in lso2Δ. These defects, and the conservation of the specific ribosome-binding activity of Lso2/CCDC124, indicate broadly important functions in translation and physiology.


Asunto(s)
Secuencia Conservada , Biosíntesis de Proteínas , Proteínas Ribosómicas/metabolismo , Ribosomas/metabolismo , Proteínas de Saccharomyces cerevisiae/metabolismo , Saccharomyces cerevisiae/metabolismo , Secuencia de Aminoácidos , Codón Iniciador/genética , Regulación Fúngica de la Expresión Génica , Células HeLa , Humanos , Extensión de la Cadena Peptídica de Translación , Terminación de la Cadena Péptídica Traduccional , ARN Ribosómico/metabolismo , ARN de Transferencia/metabolismo , Proteínas Ribosómicas/química , Proteínas Ribosómicas/genética , Saccharomyces cerevisiae/genética , Saccharomyces cerevisiae/crecimiento & desarrollo , Proteínas de Saccharomyces cerevisiae/química , Proteínas de Saccharomyces cerevisiae/genética
20.
Soc Psychiatry Psychiatr Epidemiol ; 56(2): 247-257, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32886133

RESUMEN

PURPOSE: Mental health disparities have been documented among sexual minority college students, but there is a dearth of evidence from developing countries. The aim is to estimate the prevalence of 12-month mental and substance use disorders across a range of sexual identities among first-year college students in Mexican universities, and test whether there is an association between sexual identity and disorders and whether the association is moderated by gender. METHOD: The University Project for Healthy Students, a web-based survey conducted as part of the World Health Organization's World Mental Health International College Student initiative, recruited 7874 students from nine Mexican universities in 2016 and 2017. Logistic regressions estimated the association of sexual identity with 12-month major depressive episode, generalized anxiety disorder, panic disorder, alcohol abuse/dependence, and drug abuse/dependence, with interaction terms for gender. RESULTS: Compared to heterosexual students reporting no same-sex attraction (SSA), heterosexual students with SSA (AORs range 1.77-3.67) and lesbian/gay and bisexual students (AORs range 2.22-5.32) were at a higher risk for several disorders. Asexual students were at higher risk for drug abuse/dependence (AOR = 3.64). Students unsure of their sexual identity were at a higher risk for major depressive episode, panic disorder, and drug abuse/dependence (AORs range 2.25-3.82). Gender differences varied across sexual identity and disorder. CONCLUSION: These findings are the first empirical report of sexual minority psychiatric disparities among a college student population from a developing nation and underscore the importance of clinical interventions that address mental health needs among sexual minority college students.


Asunto(s)
Trastorno Depresivo Mayor , Trastornos Mentales , Minorías Sexuales y de Género , Trastornos Relacionados con Sustancias , Trastorno Depresivo Mayor/epidemiología , Femenino , Humanos , Trastornos Mentales/epidemiología , México/epidemiología , Prevalencia , Estudiantes , Trastornos Relacionados con Sustancias/epidemiología , Universidades
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA