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1.
Plant Cell ; 35(7): 2635-2653, 2023 06 26.
Artículo en Inglés | MEDLINE | ID: mdl-36972404

RESUMEN

PHYTOCHROME KINASE SUBSTRATE (PKS) proteins are involved in light-modulated changes in growth orientation. They act downstream of phytochromes to control hypocotyl gravitropism in the light and act early in phototropin signaling. Despite their importance for plant development, little is known about their molecular mode of action, except that they belong to a protein complex comprising phototropins at the plasma membrane (PM). Identifying evolutionary conservation is one approach to revealing biologically important protein motifs. Here, we show that PKS sequences are restricted to seed plants and that these proteins share 6 motifs (A to F from the N to the C terminus). Motifs A and D are also present in BIG GRAIN, while the remaining 4 are specific to PKSs. We provide evidence that motif C is S-acylated on highly conserved cysteines, which mediates the association of PKS proteins with the PM. Motif C is also required for PKS4-mediated phototropism and light-regulated hypocotyl gravitropism. Finally, our data suggest that the mode of PKS4 association with the PM is important for its biological activity. Our work, therefore, identifies conserved cysteines contributing to PM association of PKS proteins and strongly suggests that this is their site of action to modulate environmentally regulated organ positioning.


Asunto(s)
Proteínas de Arabidopsis , Arabidopsis , Fitocromo , Fitocromo/metabolismo , Proteínas de Arabidopsis/genética , Proteínas de Arabidopsis/metabolismo , Arabidopsis/metabolismo , Proteína S/metabolismo , Luz , Fototropismo , Hipocótilo , Acilación
2.
Emerg Infect Dis ; 30(7): 1496-1498, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38916587

RESUMEN

We analyzed West Nile Virus (WNV) exposure from 1,222 blood donors during 2017-2018 from an area of south-central Spain. Results revealed WNV seroprevalence of 0.08% (95% CI 0.004%-0.4%) in this population. Our findings underscore the need for continued surveillance and research to manage WNV infection in this region.


Asunto(s)
Anticuerpos Antivirales , Donantes de Sangre , Fiebre del Nilo Occidental , Virus del Nilo Occidental , Humanos , España/epidemiología , Fiebre del Nilo Occidental/epidemiología , Virus del Nilo Occidental/inmunología , Estudios Seroepidemiológicos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Anticuerpos Antivirales/sangre , Adulto Joven , Adolescente , Anciano
3.
Pediatr Res ; 95(1): 308-315, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37735232

RESUMEN

BACKGROUND: Traditional methods for predicting adult height (AHP) rely on manual readings of bone age (BA). However, the incorporation of artificial intelligence has recently improved the accuracy of BA readings and their incorporation into AHP models. METHODS: This study aimed to identify the AHP model that fits the current average height for adults in Mexico. Using a cross-sectional design, the study included 1173 participants (5-18 yr). BA readings were done by two experts (manually) and with an automated method (BoneXpert®). AHP was carried out using both traditional and automated methods. The best AHP model was the one that was closest to the population mean. RESULTS: All models overestimated the population mean (males: 0.7-6.7 cm, females: 0.9-3.7 cm). The AHP models with the smallest difference were BoneXpert for males and Bayley & Pinneau for females. However, the manual readings of BA showed significant interobserver variability (up to 43% of predictions between observers exceeded 5 cm using the Bayley & Pinneau method). CONCLUSION: Traditional AHP models relying on manual BA readings have high interobserver variability. Therefore, BoneXpert is the most reliable option, reducing such variability and providing AHP models that remain close to the mean population height. IMPACT: Traditional models for predicting adult height often result in overestimated height predictions. The manual reading of bone age is prone to interobserver variability, which can introduce significant biases in the prediction of adult height. The BoneXpert method minimizes the variability associated with traditional methods and demonstrates consistent results in relation to the average height of the population. This study is the first to assess adult height prediction models specifically in the current generations of Mexican children.


Asunto(s)
Determinación de la Edad por el Esqueleto , Inteligencia Artificial , Masculino , Niño , Adulto , Femenino , Humanos , Estudios Transversales , Determinación de la Edad por el Esqueleto/métodos , Estatura , México
4.
Crit Care ; 28(1): 91, 2024 03 21.
Artículo en Inglés | MEDLINE | ID: mdl-38515193

RESUMEN

BACKGROUND: Acute respiratory distress syndrome (ARDS) can be classified into sub-phenotypes according to different inflammatory/clinical status. Prognostic enrichment was achieved by grouping patients into hypoinflammatory or hyperinflammatory sub-phenotypes, even though the time of analysis may change the classification according to treatment response or disease evolution. We aimed to evaluate when patients can be clustered in more than 1 group, and how they may change the clustering of patients using data of baseline or day 3, and the prognosis of patients according to their evolution by changing or not the cluster. METHODS: Multicenter, observational prospective, and retrospective study of patients admitted due to ARDS related to COVID-19 infection in Spain. Patients were grouped according to a clustering mixed-type data algorithm (k-prototypes) using continuous and categorical readily available variables at baseline and day 3. RESULTS: Of 6205 patients, 3743 (60%) were included in the study. According to silhouette analysis, patients were grouped in two clusters. At baseline, 1402 (37%) patients were included in cluster 1 and 2341(63%) in cluster 2. On day 3, 1557(42%) patients were included in cluster 1 and 2086 (57%) in cluster 2. The patients included in cluster 2 were older and more frequently hypertensive and had a higher prevalence of shock, organ dysfunction, inflammatory biomarkers, and worst respiratory indexes at both time points. The 90-day mortality was higher in cluster 2 at both clustering processes (43.8% [n = 1025] versus 27.3% [n = 383] at baseline, and 49% [n = 1023] versus 20.6% [n = 321] on day 3). Four hundred and fifty-eight (33%) patients clustered in the first group were clustered in the second group on day 3. In contrast, 638 (27%) patients clustered in the second group were clustered in the first group on day 3. CONCLUSIONS: During the first days, patients can be clustered into two groups and the process of clustering patients may change as they continue to evolve. This means that despite a vast majority of patients remaining in the same cluster, a minority reaching 33% of patients analyzed may be re-categorized into different clusters based on their progress. Such changes can significantly impact their prognosis.


Asunto(s)
COVID-19 , Síndrome de Dificultad Respiratoria , Humanos , Análisis por Conglomerados , Unidades de Cuidados Intensivos , Estudios Prospectivos , Síndrome de Dificultad Respiratoria/terapia , Estudios Retrospectivos
5.
Biochem J ; 480(4): 259-281, 2023 02 27.
Artículo en Inglés | MEDLINE | ID: mdl-36727473

RESUMEN

Neither the Pseudomonas aeruginosa aldehyde dehydrogenase encoded by the PA4189 gene nor its ortholog proteins have been biochemically or structurally characterized and their physiological function is unknown. We cloned the PA4189 gene, obtained the PA4189 recombinant protein, and studied its structure-function relationships. PA4189 is an NAD+-dependent aminoaldehyde dehydrogenase highly efficient with protonated aminoacetaldehyde and 3-aminopropionaldehyde, which are much more preferred to the non-protonated species as indicated by pH studies. Based on the higher activity with aminoacetaldehyde than with 3-aminopropionaldehyde, we propose that aminoacetaldehyde might be the PA4189 physiological substrate. Even though at the physiological pH of P. aeruginosa cells the non-protonated aminoacetaldehyde species will be predominant, and despite the competition of these species with the protonated ones, PA4189 would very efficiently oxidize ACTAL in vivo, producing glycine. To our knowledge, PA4189 is the first reported enzyme that might metabolize ACTAL, which is considered a dead-end metabolite because its consuming reactions are unknown. The PA4189 crystal structure reported here suggested that the charge and size of the active-site residue Glu457, which narrows the aldehyde-entrance tunnel, greatly define the specificity for small positively charged aldehydes, as confirmed by the kinetics of the E457G and E457Q variants. Glu457 and the residues that determine Glu457 conformation inside the active site are conserved in the PA4189 orthologs, which we only found in proteobacteria species. Also is conserved the PA4189 genomic neighborhood, which suggests that PA4189 participates in an uncharacterized metabolic pathway. Our results open the door to future efforts to characterize this pathway.


Asunto(s)
Aldehídos , Pseudomonas aeruginosa , Aldehídos/química , Propilaminas , Oxidorreductasas , Cinética , Especificidad por Sustrato
6.
Appetite ; 192: 107087, 2024 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-37865297

RESUMEN

The purpose of this study was to summarize the evidence from studies conducted on adolescents, evaluating educational nutrition interventions for the modification of food consumption through controlled trials based on behavior change theories or models and implemented in school settings. A systematic search was carried out through PubMed and ERIC databases between November and December 2020, and updated in February 2023; English-language keywords were used, and no publication date limits were applied. Two authors independently performed the search, data extraction, data synthesis and risk of bias assessment. Twelve studies meeting the inclusion criteria were included. The interventions were based on different theories; the most used was the Social Cognitive Theory. Eleven of the twelve studies showed favorable modifications in the consumption of at least two of the food groups. Most studies were at low risk of bias, and only one was classified as high risk. It is concluded that educational nutrition interventions based on behavior change theories/models and implemented in the school setting influence positive changes in adolescents eating behavior.


Asunto(s)
Ciencias de la Nutrición del Niño , Instituciones Académicas , Adolescente , Humanos , Ciencias de la Nutrición del Niño/educación
7.
J Integr Neurosci ; 23(3): 51, 2024 Mar 04.
Artículo en Inglés | MEDLINE | ID: mdl-38538228

RESUMEN

BACKGROUND: The flavonoid chrysin produces rapid and long-lasting anxiolytic- and antidepressant-like effects in rats. However, it is not known whether low and high doses of chrysin produce differential anti-immobility effects through the Gamma-Aminobutyric Acid sub-type A (GABAA) receptor. The goal of this work was therefore to compare low and high doses of chrysin for their effects on depression-like behavior in a longitudinal study. Moreover, chrysin was compared with the serotonergic fluoxetine and Gamma-Aminobutyric Acid (GABA)ergic allopregnanolone, and its involvement with the GABAA receptor after chronic treatment was also investigated. METHODS: Male Wistar rats were assigned to five groups (n = 8 each): vehicle, 1 mg/kg chrysin, 5 mg/kg chrysin, 1 mg/kg fluoxetine, and 1 mg/kg allopregnanolone. In the first experiment, treatments were injected daily and the effects on locomotor activity and the forced swim test were evaluated at 0, 1, 14, and 28 days of treatment, and 48 h after the final treatment. In the second experiment, similar groups were treated for 28 days with injection of 1 mg/kg picrotoxin to investigate the role of the GABAA receptor. Depending on the experimental design, one- and two-way analysis of variance (ANOVA) tests were used for statistical analysis, with p < 0.05 set as the criteria for significance. RESULTS: In both experiments, the treatments did not alter locomotor activity. However, low and high doses of chrysin, allopregnanolone, and fluoxetine gradually produced antidepressant-like effects in the forced swim test, and maintained this effect for 48 h post-treatment, except with low dose chrysin. Picrotoxin blocked the antidepressant-like effects produced by low dose chrysin, but did not affect those produced by high dose chrysin, allopregnanolone, or fluoxetine. CONCLUSIONS: The differential antidepressant-like effects caused by low and high doses of chrysin are time-dependent. Low dose chrysin produces a rapid antidepressant-like effect, whereas high dose chrysin produces a delayed but sustained the effect, even 48 h after withdrawal. The effect with high dose chrysin was similar to that observed with allopregnanolone and fluoxetine. The mechanism for the antidepressant-like effect of low chrysin appears to be GABAergic, whereas the effect of high dose chrysin may involve other neurotransmission and neuromodulation systems related to the serotonergic system.


Asunto(s)
Fluoxetina , Receptores de GABA-A , Ratas , Masculino , Animales , Fluoxetina/farmacología , Pregnanolona , Ratas Wistar , Receptores de GABA , Picrotoxina , Estudios Longitudinales , Antidepresivos/farmacología , Flavonoides/farmacología , Ácido gamma-Aminobutírico
8.
Genome Res ; 30(8): 1131-1143, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32817237

RESUMEN

Despite the growing resources and tools for high-throughput characterization and analysis of genomic information, the discovery of the genetic elements that regulate complex traits remains a challenge. Systems genetics is an emerging field that aims to understand the flow of biological information that underlies complex traits from genotype to phenotype. In this study, we used a systems genetics approach to identify and evaluate regulators of the lignin biosynthesis pathway in Populus deltoides by combining genome, transcriptome, and phenotype data from a population of 268 unrelated individuals of P. deltoides The discovery of lignin regulators began with the quantitative genetic analysis of the xylem transcriptome and resulted in the detection of 6706 and 4628 significant local- and distant-eQTL associations, respectively. Among the locally regulated genes, we identified the R2R3-MYB transcription factor MYB125 (Potri.003G114100) as a putative trans-regulator of the majority of genes in the lignin biosynthesis pathway. The expression of MYB125 in a diverse population positively correlated with lignin content. Furthermore, overexpression of MYB125 in transgenic poplar resulted in increased lignin content, as well as altered expression of genes in the lignin biosynthesis pathway. Altogether, our findings indicate that MYB125 is involved in the control of a transcriptional coexpression network of lignin biosynthesis genes during secondary cell wall formation in P. deltoides.


Asunto(s)
Regulación de la Expresión Génica de las Plantas/genética , Lignina/biosíntesis , Populus/genética , Populus/metabolismo , Xilema/metabolismo , Pared Celular/metabolismo , Perfilación de la Expresión Génica , Genoma de Planta/genética , Lignina/genética , Plantas Modificadas Genéticamente/genética , Polimorfismo de Nucleótido Simple/genética , Sitios de Carácter Cuantitativo/genética , Análisis de Secuencia de ARN , Factores de Transcripción/genética , Transcriptoma/genética , Xilema/genética
9.
Bioinformatics ; 38(10): 2956-2958, 2022 05 13.
Artículo en Inglés | MEDLINE | ID: mdl-35561193

RESUMEN

SUMMARY: This article presents multi-omic integration with sparse value decomposition (MOSS), a free and open-source R package for integration and feature selection in multiple large omics datasets. This package is computationally efficient and offers biological insight through capabilities, such as cluster analysis and identification of informative omic features. AVAILABILITY AND IMPLEMENTATION: https://CRAN.R-project.org/package=MOSS. SUPPLEMENTARY INFORMATION: Supplementary information can be found at https://github.com/agugonrey/GonzalezReymundez2021.


Asunto(s)
Programas Informáticos , Análisis por Conglomerados
10.
J Med Virol ; 95(11): e29240, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37971716

RESUMEN

To evaluate molecular assays for Mpox diagnosis available in various clinical microbiology services in Spain through a quality control (QC) approach. A total of 14 centers from across Spain participated in the study. The Reference Laboratory dispatched eight serum samples and eight nucleic acid extracts to each participating center. Some samples were spiked with Mpox or Vaccinia virus to mimic positive samples for Mpox or other orthopox viruses. Participating centers provided information on the results obtained, as well as the laboratory methods used. Among the 14 participating centers seven different commercial assays were employed, with the most commonly used kit being LightMix Modular Orthopox/Monkeypox (Mpox) Virus (Roche®). Of the 12 centers conducting Mpox determinations, concordance ranged from 62.5% (n = 1) to 100% (n = 11) for eluates and from 75.0% (n = 1) to 100% (n = 10) for serum. Among the 10 centers performing Orthopoxvirus determinations, a 100% concordance was observed for eluates, while for serum, concordance ranged from 87.5% (n = 6) to 100% (n = 4). Repeatedly, 6 different centers reported a false negative in serum samples for Orthopoxvirus diagnosis, particularly in a sample with borderline Ct = 39. Conversely, one center, using the TaqMan™ Mpox Virus Microbe Detection Assay (Thermo Fisher), reported false positives in Mpox diagnosis for samples spiked with vaccinia virus due to cross-reactions. We observed a positive correlation of various diagnostic assays for Mpox used by the participating centers with the reference values. Our results highlight the significance of standardization, validation, and ongoing QC in the microbiological diagnosis of infectious diseases, which might be particularly relevant for emerging viruses.


Asunto(s)
Mpox , Orthopoxvirus , Humanos , Monkeypox virus/genética , Mpox/diagnóstico , Reacción en Cadena de la Polimerasa , Control de Calidad , Virus Vaccinia/genética , ADN
11.
Respir Res ; 24(1): 159, 2023 Jun 17.
Artículo en Inglés | MEDLINE | ID: mdl-37328754

RESUMEN

BACKGROUND: The identification of critically ill COVID-19 patients at risk of fatal outcomes remains a challenge. Here, we first validated candidate microRNAs (miRNAs) as biomarkers for clinical decision-making in critically ill patients. Second, we constructed a blood miRNA classifier for the early prediction of adverse outcomes in the ICU. METHODS: This was a multicenter, observational and retrospective/prospective study including 503 critically ill patients admitted to the ICU from 19 hospitals. qPCR assays were performed in plasma samples collected within the first 48 h upon admission. A 16-miRNA panel was designed based on recently published data from our group. RESULTS: Nine miRNAs were validated as biomarkers of all-cause in-ICU mortality in the independent cohort of critically ill patients (FDR < 0.05). Cox regression analysis revealed that low expression levels of eight miRNAs were associated with a higher risk of death (HR from 1.56 to 2.61). LASSO regression for variable selection was used to construct a miRNA classifier. A 4-blood miRNA signature composed of miR-16-5p, miR-192-5p, miR-323a-3p and miR-451a predicts the risk of all-cause in-ICU mortality (HR 2.5). Kaplan‒Meier analysis confirmed these findings. The miRNA signature provides a significant increase in the prognostic capacity of conventional scores, APACHE-II (C-index 0.71, DeLong test p-value 0.055) and SOFA (C-index 0.67, DeLong test p-value 0.001), and a risk model based on clinical predictors (C-index 0.74, DeLong test-p-value 0.035). For 28-day and 90-day mortality, the classifier also improved the prognostic value of APACHE-II, SOFA and the clinical model. The association between the classifier and mortality persisted even after multivariable adjustment. The functional analysis reported biological pathways involved in SARS-CoV infection and inflammatory, fibrotic and transcriptional pathways. CONCLUSIONS: A blood miRNA classifier improves the early prediction of fatal outcomes in critically ill COVID-19 patients.


Asunto(s)
COVID-19 , MicroARNs , Humanos , MicroARNs/genética , MicroARNs/metabolismo , Estudios Prospectivos , Estudios Retrospectivos , COVID-19/diagnóstico , COVID-19/genética , Enfermedad Crítica , Biomarcadores , Unidades de Cuidados Intensivos
12.
Echocardiography ; 40(10): 1117-1121, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37519285

RESUMEN

Atherosclerosis is a disease where plaque builds up in arteries, resulting in harmful cardiovascular events. Inflammation has a significant role in its progression, starting from the initial stages. Cancer patients, due to their constant exposure to inflammatory processes caused by treatments or illnesses, are at a higher risk of developing this condition. Arterial inflammation can be quantified with 18 F-FDG PET/CT imaging. In this case report, we propose that routinary PET/CT imaging for oncological surveillance could be useful for cardiovascular risk stratification by reviewing a case of a patient with breast cancer whose imaging study revealed arterial inflammation and a subsequent echocardiogram evidenced grade II diastolic dysfunction (potentially, an initial manifestation of the ischemic cascade).

13.
Vascular ; 31(5): 868-873, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-35492002

RESUMEN

OBJECTIVES: Retroperitoneal tumor resection commonly disturbs major vessels; therefore, surgical teams can recruit vascular surgeons to prevent injuries and improve the prognosis of oncologic patients. The objective of the present study is to establish long-term survival after retroperitoneal tumor resection surgery with an emphasis on the potential impact of preventing or repairing major vessel injuries when tumors are adjacent to the aorta or vena cava. METHODS: Retrospective case series including all cases of surgical removal of retroperitoneal tumors between 2007 and 2020 in a highly specialized hospital in Mexico City. Long-term survival was defined as 5 years after surgical intervention. Descriptive statistics, group-comparison tests, and regression analysis were performed using Stata 16. RESULTS: From a total of 70 cases, vascular injury occurred in 30 (42.8%) and the vascular surgeon intervened in 19 (27.1%) of them, 4 (21%) were performed by a vascular surgeon with planned intervention, and in 9 (47.3%) cases the vascular surgeon was called to join the surgery due to emergency. Intraoperative bleeding was 2-fold greater in the group with an emergent participation of vascular surgery in contrast with the planned intervention group (4, 235 mL vs 2, 035 mL, p = 0.04). The regression model revealed a significant association between the intervention of a vascular surgeon and long-term survival (OR 59.3, p = 0.03) after adjusting for sociodemographic and characteristics of oncologic nature. CONCLUSIONS: Planned intervention of vascular surgeons in retroperitoneal tumor resection may have a positive impact not only in trans-operatory period, but also on long-term survival.


Asunto(s)
Neoplasias Retroperitoneales , Cirujanos , Humanos , Neoplasias Retroperitoneales/cirugía , Neoplasias Retroperitoneales/patología , Estudios Retrospectivos , Resultado del Tratamiento , Procedimientos Quirúrgicos Vasculares/efectos adversos , Vena Cava Inferior/diagnóstico por imagen , Vena Cava Inferior/cirugía
14.
Australas J Dermatol ; 64(4): 537-543, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37823565

RESUMEN

The terminology surrounding the clinical syndrome characterized by acute mucositis with minimal skin involvement has been a subject of debate over time. In recent years, terms such as mycoplasma-induced rash and mucositis and reactive infectious mucocutaneous eruption (RIME) have been introduced to encompass milder mucocutaneous diseases associated with respiratory infections, with implications for management and prognosis. We report the first case of recurrent RIME associated with Chlamydophila pneumoniae infection in an adult patient. RIME is likely underreported due to misclassification and a lack of testing for potential pathogens. Early recognition of recurrent RIME is of particular interest from the patient's perspective to reduce the frequency and duration of hospital admissions.


Asunto(s)
Chlamydophila pneumoniae , Exantema , Mucositis , Neumonía por Mycoplasma , Humanos , Adulto , Mycoplasma pneumoniae , Mucositis/complicaciones , Exantema/etiología , Síndrome , Neumonía por Mycoplasma/complicaciones
15.
Euro Surveill ; 28(45)2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37943504

RESUMEN

BackgroundVarious pathogens, including bacteria, fungi, parasites, and viruses can lead to meningitis. Among viruses causing meningitis, Toscana virus (TOSV), a phlebovirus, is transmitted through sandfly bites. TOSV infection may be suspected if patients with enterovirus- and herpesvirus-negative aseptic (non-bacterial) meningitis recall recent insect bites. Other epidemiological factors (season, rural area) may be considered. The broad range of possible meningitis aetiologies poses considerable diagnosis challenges. Untargeted metagenomic next-generation sequencing (mNGS) can potentially identify pathogens, which are not considered or detected in routine diagnostic panels.AimIn this retrospective, single-centre observational study, we investigated mNGS usefulness to understand the cause of meningitis when conventional approaches fail.MethodsCerebrospinal fluid (CSF) samples from patients hospitalised in southern Spain in 2015-2019 with aseptic meningitis and no aetiology found by conventional testing, were subjected to mNGS. Patients' demographic characteristics had been recorded and physicians had asked them about recent insect bites. Obtained viral genome sequences were phylogenetically analysed.ResultsAmong 23 idiopathic cases, TOSV was identified in eight (all male; median age: 39 years, range: 15-78 years). Five cases lived in an urban setting, three occurred in autumn and only one recalled insect bites. Phylogenetic analysis of TOSV segment sequences supported one intra-genotype reassortment event.ConclusionsOur study highlights the usefulness of mNGS for identifying viral pathogens directly in CSF. In southern Spain, TOSV should be considered regardless of recalling of insect bites or other epidemiological criteria. Detection of a disease-associated reassortant TOSV emphasises the importance of monitoring the spread and evolution of phleboviruses in Mediterranean countries.


Asunto(s)
Mordeduras y Picaduras de Insectos , Meningitis , Virus de Nápoles de la Fiebre de la Mosca de los Arenales , Humanos , Masculino , Adulto , Virus de Nápoles de la Fiebre de la Mosca de los Arenales/genética , Filogenia , Estudios Retrospectivos , España/epidemiología
16.
Int J Mol Sci ; 24(21)2023 Oct 27.
Artículo en Inglés | MEDLINE | ID: mdl-37958660

RESUMEN

High myopia is the most severe and pathological form of myopia. It occurs when the spherical refractive error exceeds -6.00 spherical diopters (SDs) or the axial length (AL) of the eye is greater than 26 mm. This article focuses on early-onset high myopia, an increasingly common condition that affects children under 10 years of age and can lead to other serious ocular pathologies. Through the genetic analysis of 21 families with early-onset high myopia, this study seeks to contribute to a better understanding of the role of genetics in this disease and to propose candidate genes. Whole-exome sequencing studies with a panel of genes known to be involved in the pathology were performed in families with inconclusive results: 3% of the variants found were classified as pathogenic, 6% were likely pathogenic and the remaining 91% were variants of uncertain significance. Most of the families in this study were found to have alterations in several of the proposed genes. This suggests a polygenic inheritance of the pathology due to the cumulative effect of the alterations. Further studies are needed to validate and confirm the role of these alterations in the development of early-onset high myopia and its polygenic inheritance.


Asunto(s)
Miopía , Niño , Humanos , Secuenciación del Exoma , Miopía/genética
17.
Rev Esp Enferm Dig ; 2023 Nov 06.
Artículo en Inglés | MEDLINE | ID: mdl-37929944

RESUMEN

We present the case of a 22-year-old woman with cesarean section 11 days before with abdominal pain in the left flank of one week of evolution associated with self-limited liquid stools. In the analytical control, leukocytes at the expense of neutrophils, as well as CRP 147 gr/L were highlighted. An abdominal CT scan was requested without contrast iv, which showed inflammatory changes in the pericolonic fat adjacent to the descending colon associated with concentric mural thickening with oval lesion. Due to the characteristics of the patient continuing with abdominal pain and the CT findings, abdominal MRI was requested in which concentric mural thickening of a segment of descending colon with longitudinal diameter of approximately 6 cm, associated with infiltration-rarefaction of the pericolonic fat, and cystic image that protrudes on the left lateral wall of the colon of approximately 3.7x5 cm was observed.

18.
Med Sci Monit ; 28: e938365, 2022 Sep 12.
Artículo en Inglés | MEDLINE | ID: mdl-36093924

RESUMEN

Worldwide, metabolic dysfunction-associated fatty liver disease (MAFLD) is the most common chronic liver disease. MAFLD is associated with insulin resistance, type 2 diabetes mellitus (T2DM), obesity, hypertension, and dyslipidemia. Early diagnosis and management are vital to improving hepatic and cardiometabolic outcomes. Dietary change, weight loss, and structured exercise are the main treatment approaches for fatty liver disease. Since 2010, several investigational drug treatments failed to achieve regulatory approval due to mixed and unsatisfactory results. Although glucagon-like peptide 1 receptor agonists (GLP1-RAs) showed initial promise as therapeutic agents, metabolic liver damage can recur after monotherapy cessation. Dual incretin receptor agonists target the receptors for glucagon-like peptide 1 (GLP-1) and gastric inhibitory peptide (GIP). Importantly, on May 13, 2022, the US Food and Drug Administration (FDA) approved tirzepatide as the first dual GLP-1 and GIP receptor agonist for the treatment of T2DM. Dual incretin receptor agonists induce weight loss and enhance hepatic lipid metabolism and systemic insulin sensitivity. Insulin resistance and hepatic steatosis are the main contributors to the development of MAFLD. Treatment with dual incretin analogs reduces hepatic steatosis, lobular inflammation, liver cell damage, fibrosis, and total liver triglyceride levels. The availability of dual incretin receptor agonists for patients with MAFLD may result in weight control, normalizing insulin sensitivity, and reducing or even reversing metabolic dysfunction and liver damage. This Editorial aims to provide an update and discuss how treatment with dual incretin receptor agonists may maintain normal glucose levels and weight and control MAFLD.


Asunto(s)
Diabetes Mellitus Tipo 2 , Resistencia a la Insulina , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/tratamiento farmacológico , Diabetes Mellitus Tipo 2/metabolismo , Péptido 1 Similar al Glucagón/metabolismo , Glucosa/metabolismo , Humanos , Incretinas/metabolismo , Incretinas/uso terapéutico , Estados Unidos , Pérdida de Peso
19.
Health Commun ; 37(5): 648-655, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-33334179

RESUMEN

The complexity of the current healthcare ecosystem justifies the convenience of targeting patients' companions in health communication strategies. Designing successful interventions requires taking into account which keys should be pressed in companions in order to generate positive outcomes in the accompanied patients. In particular, this paper explores how companion health empowerment and companion health literacy affect the well-being of chronically-ill elderly patients. Data for this research come from a cross-sectional quantitative study including 1,814 individuals (907 chronically-ill elderly patients and their 907 companions). Data were collected through two online questionnaires, one for patients and one for companions. The findings suggest that companion health empowerment is defined by the dimensions information search empowerment and knowledge development and decision participation empowerment. Furthermore, the distinction between functional, interactive and critical health literacy has revealed to be useful for comprehending companion health literacy. A structural equation model shows that critical health literacy sets the threshold above which companion health literacy improves accompanied patient well-being, even more so when it is backed up by companion information search empowerment and by companion knowledge development and decision participation empowerment.


Asunto(s)
Amigos , Alfabetización en Salud , Anciano , Estudios Transversales , Ecosistema , Humanos , Pacientes
20.
Fetal Diagn Ther ; 49(7-8): 311-320, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36126644

RESUMEN

INTRODUCTION: The objective of this study was to construct gestational age (GA) based reference values for left ventricle (LV) longitudinal strain in normal fetuses, between 24 and 37 weeks' gestation, assessing its feasibility and reproducibility with automated cardiac motion quantification software (aCMQ-QLab), which is widely used in postnatal echocardiography. METHODS: This prospective study included healthy gravid women with singleton pregnancies and no evidence of fetal structural cardiovascular disease. Fetal echocardiographies were performed between 24 and 37 GA. 2D four-chamber view clips were recorded and LV longitudinal strain was analyzed offline. Intra- and interobserver reproducibility between 2 independent observers was evaluated by intraclass correlation coefficients (ICC) and Bland-Altman scatterplots. Regression analysis was used to determine GA adjusted reference ranges and construct nomograms. RESULTS: LV longitudinal strain measurements were feasible in 95.4% of acquisitions. 435 clips were obtained. Intra- and interobserver ICC were 0.998 (95% CI 0.997-0.999) and 0.991 (95% CI 0.984-0.995), respectively. The global longitudinal strain and the middle and apical LV segments showed progressive decline as GA advanced, whereas the basal segments remained stable. CONCLUSIONS: Assessment of LV longitudinal strain by aCMQ-QLab is feasible, reproducible, and within normal ranges. Our results offer more information regarding fetal cardiac function assessment with 2D speckle tracking techniques, aiding in the introduction of this software into research practice, encouraging the realization of more studies, and probably helping in its future use in clinical practice, allowing longitudinal surveillance of strain without intervendor variability and aiding in follow-up of fetal cardiac conditions before and after birth, as it is the most commonly used software postnatally.


Asunto(s)
Ventrículos Cardíacos , Función Ventricular Izquierda , Femenino , Humanos , Embarazo , Lactante , Ventrículos Cardíacos/diagnóstico por imagen , Valores de Referencia , Edad Gestacional , Estudios Prospectivos , Reproducibilidad de los Resultados , Feto , Corazón Fetal/diagnóstico por imagen , Ultrasonografía Prenatal/métodos
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