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6.
Hum Reprod ; 39(6): 1186-1196, 2024 Jun 03.
Artículo en Inglés | MEDLINE | ID: mdl-38622061

RESUMEN

STUDY QUESTION: How do transcriptomics vary in haploid human androgenote embryos at single cell level in the first four cell cycles of embryo development? SUMMARY ANSWER: Gene expression peaks at the fourth cell cycle, however some androcytes exhibit unique transcriptional behaviors. WHAT IS KNOWN ALREADY: The developmental potential of an embryo is determined by the competence of the oocyte and the sperm. However, studies of the contribution of the paternal genome using pure haploid androgenotes are very scarce. STUDY DESIGN, SIZE, DURATION: This study was performed analyzing the single-cell transcriptomic sequencing of 38 androcytes obtained from 10 androgenote bioconstructs previously produced in vitro (de Castro et al., 2023). These results were analyzed through different bioinformatics software such as g: Profiler, GSEA, Cytoscape, and Reactome. PARTICIPANTS/MATERIALS, SETTING, METHODS: Single cell sequencing was used to obtain the transcriptomic profiles of the different androcytes. The results obtained were compared between the different cycles studied using the DESeq2 program and functional enrichment pathways using g: Profiler, Cytoscape, and Reactome. MAIN RESULTS AND THE ROLE OF CHANCE: A wave of paternally driven transcriptomic activation was found during the third-cell cycle, with 1128 upregulated and 225 downregulated genes and the fourth-cell cycle, with 1373 upregulated and 286 downregulated genes, compared to first-cell cycle androcytes. Differentially expressed routes related to cell differentiation, DNA-binding transcription, RNA biosynthesis and RNA polymerase II transcription regulatory complex, and cell death were found in the third and fourth with respect to the first-cell cycle. Conversely, in the fourth cell cycle, 153 downregulated and 332 upregulated genes were found compared with third cell cycle, associated with differentially expressed processes related to E-box binding and zinc finger protein 652 (ZNF652) transcription factor. Further, significant overexpression of LEUTX, PRAMEF1, DUXA, RFPL4A, TRIM43, and ZNF675 found in androgenotes, compared to biparental embryos, highlights the paternal contributions to zygote genome activation. LARGE SCALE DATA: All raw sequencing data are available through the Gene Expression Omnibus (GEO) under accessions number: GSE216501. LIMITATIONS, REASONS FOR CAUTION: Extrapolation of biological events from uniparental constructs to biparental embryos should be done with caution. Maternal and paternal genomes do not act independently of each other in a natural condition. The absence of one genome may affect gene transcription of the other. In this sense, the haploid condition of the bioconstructs could mask the transcriptomic patterns of the single cells. WIDER IMPLICATIONS OF THE FINDINGS: The results obtained demonstrated the level of involvement of the human paternal haploid genome in the early stages of embryo development as well as its evolution at the transcriptomic level, laying the groundwork for the use of these bioconstructs as reliable models to dispel doubts about the genetic role played by the paternal genome in the early cycles of embryo development. STUDY FUNDING/COMPETING INTEREST(S): This study was funded by Instituto de Salud Carlos III (ISCIII) through the project 'PI22/00924', co-funded by European Regional Development Fund (ERDF); 'A way to make Europe'. F.D. was supported by the Spanish Ministry of Economy and Competitiveness through the Miguel Servet program (CPII018/00002). M.J.E. was supported by Instituto de Salud Carlos III (PI19/00577 [M.J.E.]) and FI20/00086. P.dC. was supported by a predoctoral grant for training in research into health (PFIS PI19/00577) from the Instituto de Salud Carlos III. All authors declare having no conflict of interest with regard to this trial.


Asunto(s)
Desarrollo Embrionario , Regulación del Desarrollo de la Expresión Génica , Análisis de la Célula Individual , Humanos , Desarrollo Embrionario/genética , Masculino , Transcriptoma , Femenino , Perfilación de la Expresión Génica , Haploidia , Espermatozoides/metabolismo
10.
Actas Urol Esp (Engl Ed) ; 48(5): 398-403, 2024 Jun.
Artículo en Inglés, Español | MEDLINE | ID: mdl-38373482

RESUMEN

INTRODUCTION AND OBJECTIVE: Generative artificial intelligence makes it possible to ask about medical pathologies in dialog boxes. Our objective was to analyze the quality of information about the most common urological pathologies provided by ChatGPT (OpenIA), BARD (Google), and Copilot (Microsoft). METHODS: We analyzed information on the following pathologies and their treatments as provided by AI: prostate cancer, kidney cancer, bladder cancer, urinary lithiasis, and benign prostatic hypertrophy (BPH). Questions in English and Spanish were posed in dialog boxes; the answers were collected and analyzed with DISCERN questionnaires and the overall appropriateness of the response. Surgical procedures were performed with an informed consent questionnaire. RESULTS: The responses from the three chatbots explained the pathology, detailed risk factors, and described treatments. The difference is that BARD and Copilot provide external information citations, which ChatGPT does not. The highest DISCERN scores, in absolute numbers, were obtained in Copilot; however, on the appropriacy scale it was noted that their responses were not the most appropriate. The best surgical treatment scores were obtained by BARD, followed by ChatGPT, and finally Copilot. CONCLUSIONS: The answers obtained from generative AI on urological diseases depended on the formulation of the question. The information provided had significant biases, depending on pathology, language, and above all, the dialog box consulted.


Asunto(s)
Lenguaje , Enfermedades Urológicas , Humanos , Inteligencia Artificial , Encuestas y Cuestionarios , Internet
13.
Actas urol. esp ; 47(10): 681-687, Dic. 2023. tab
Artículo en Inglés, Español | IBECS | ID: ibc-228320

RESUMEN

Introducción La vaina de acceso asistida por vacío es un nuevo dispositivo para el tratamiento de los cálculos renales mediante nefrolitotomía percutánea (NLPC). Objetivo Nuestro objetivo fue comparar la tasa libre de litiasis (TLL) y las complicaciones entre la mini-NLPC estándar y la asistida por vacío (VaNLPC). Método Estudio retrospectivo de pacientes intervenidos mediante mini-NLPC y VaNLPC desde enero de 2018 hasta junio de 2022. La VaNLPC se realizó con una vaina desechable (ClearPetra®) que permite la conexión de aspiración por un canal lateral facilitando la extracción de fragmentos. Se recogieron las características basales de los pacientes, los resultados quirúrgicos y los datos perioperatorios y postoperatorios. Se compararon en cuanto a las complicaciones y la TLL. Resultados Identificamos 136 pacientes, 57 (41,9%) intervenidos con VaNLPC y 79 (58,15%) con mini-NLPC. El tiempo quirúrgico medio fue significativamente menor en el grupo VaNLPC (95 min) que en el mini-NLPC (146 min; p = 0,001). La técnica tubeless se realizó con mayor frecuencia en el grupo VaNLPC (61,4 vs. 34,2%; p = 0,002). No se observaron diferencias en las complicaciones postoperatorias. El tiempo medio de hospitalización fue significativamente inferior en el grupo VaNLPC con 1,7 días por paciente frente a 2,7 días en el grupo mini-NLPC (p = 0,001). No hubo diferencias en la TLL a los tres meses entre VaNLPC (71,9%) y mini-NLPC (71,8%; p = 0,848). Conclusiones Los pacientes tratados con VaNLPC obtuvieron resultados comparables a la mini-NLPC, mostrando una TLL igual con similares complicaciones infecciosas. Como potenciales beneficios de la VaNLPC, se postulan menor tiempo quirúrgico y estancia postoperatoria. (AU)


Introduction The vacuum-assisted access sheath is a new device for the treatment of kidney stones with percutaneous nephrolithotomy (PCNL). Objective Our aim was to compare the stone-free rate (SFR) and complications between standard mini percutaneous nephrolithotomy (mini-PCNL) and vacuum-assisted PCNL (Va-PCNL). Methods Retrospective study of patients undergoing mini-PCNL and Va-PCNL from January 2018 to June 2022. Va-PCNL was performed with a disposable sheath (ClearPetra) with continuous high-flow irrigation and vacuum fluid dynamics for easier stone fragment removal. Baseline patient characteristics, surgical outcomes, perioperative and postoperative data were collected. We compared SFR and complications. Results A total of 136 patients were identified, 57 (41,9%) underwent Va-PCNL and 79 (58,15%) mini-PCNL. Mean operative time was significantly shorter in the Va-PCNL group (95 min.) than in mini-PCNL (146 min.; P = .001) group. The tubeless technique was performed more frequently in Va-PCNL group (61,4% vs. 34,2%; P = .002). We did not observe any differences in postoperative complications. The mean hospital stay was significantly lower in Va-PCNL with 1,7 ± 1,9 days per patient compared with 2,7 ± 1,5 days in the mini-PCNL group (P = .001). There were no differences in SFR at 3 months between Va-PCNL (71,9%) and mini-PCNL (71,8%; P = .848). Conclusion Patients treated with Va-PCNL had comparable results to mini-PCNL, showing equal SFR with similar infectious complications rates. Potential benefits of Va-PCNL include shorter operative time and postoperative stay. (AU)


Asunto(s)
Humanos , Masculino , Femenino , Nefrolitotomía Percutánea/métodos , Cálculos Renales/cirugía , Cálculos Renales/terapia , Procedimientos Quirúrgicos Mínimamente Invasivos , Nefrolitiasis/cirugía , Estudios Retrospectivos , Posición Supina
14.
Clin Immunol Commun ; 3: 1-5, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38014395

RESUMEN

The pandemic caused by the SARS-CoV-2 coronavirus has been especially detrimental to patients with end-stage renal disease. History with other vaccines suggests that patients with renal disease may not respond adequately to the SARS-CoV-2 vaccine. The aim of this study is to evaluate the immunity to SARS-CoV-2 mRNA vaccines in renal patients. Post SARS-CoV-2 vaccination first, and after the booster dose, antibodies and cellular immunity were studied in patients on hemodialysis (N = 20), peritoneal dialysis (N = 10) and renal transplantation (N = 10). After the two doses of vaccine, there was an effective immunity in dialysis patients, with 100% seroconversion and 87% detection of cellular immunity (85% in hemodialysis and 90% in peritoneal dialysis). In contrast, in renal transplant recipients there was only 50% seroconversion and cellular immunity was detected in 30% of patients. After the booster dose, all dialysis patients achieved a cellular and antibody immunity, whereas in transplant patients, despite improvement, 20% did not produce antibodies and in 37.5% cellular immunity could not be detected. The mRNA vaccine plus booster performs excellently in dialysis patients, whereas in kidney transplant recipients, despite the booster, complete immunization is not achieved.

15.
Mol Biol Rep ; 50(11): 9263-9271, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37812354

RESUMEN

BACKGROUND: Nucleic acids, RNA among them, are widely used in biomedicine and Biotechnology. Because of their susceptibility to degradation by RNases, the handling and extraction process of RNA from cells and tissues require specialized personnel and standardized methods to guarantee high purity and integrity. Due to the diversity of techniques found in the market, a comparative study between different RNA extraction methods is useful to facilitate the best choice for the researcher or in research service platforms such as biobanks to see the traceability of the samples. METHODS AND RESULTS: In this study, we have compared seven different RNA extraction methods: manual (TRIzol™), semiautomated (QIAGEN™, Bio-Rad, Monarch®, and Canvax™), and fully automated (QIAcube™ and Maxwell®) processes, from two biological matrices: human Jurkat T cells and peripheral blood mononuclear cells (PBMC). Results showed marked differences in the RNA quality and functionality according to the method employed for RNA extraction and the matrix used. DISCUSSION: QIAcube™ and semi-automated extraction methods were perceived as the best options because of their lower variability, good functionality, and lower cost (P < 0.001). These data contribute to facilitating researchers or research service platforms (Biobanks) in decision-making practices and emphasize the relevance of the selection of the RNA extraction method in each experimental procedure or traceability study to guarantee both quality standards and its reproducibility.


Asunto(s)
Leucocitos Mononucleares , ARN , Humanos , ARN/genética , Reproducibilidad de los Resultados
16.
Enferm. intensiva (Ed. impr.) ; 34(3): 138-147, July-Sept. 2023. ilus, tab
Artículo en Español | IBECS | ID: ibc-223466

RESUMEN

Objetivos: 1) Explorar las principales características de la transición de la unidad de cuidados intensivos de acuerdo a la experiencia vivida de los pacientes y 2) identificar la terapéutica enfermera para facilitar la transición de los pacientes desde la unidad de cuidados intensivos a la unidad de hospitalización. Metodología: Análisis secundario de los hallazgos de un estudio cualitativo descriptivo sobre la experiencia de los pacientes ingresados en una UCI durante la transición a la unidad de hospitalización, en base a la teoría de las transiciones de enfermería. Los datos para el estudio primario se generaron de 48 entrevistas semiestructuradas de pacientes que habían sobrevivido a una enfermedad crítica en 3 hospitales universitarios de tercer nivel. Resultados: Se identificaron 3 temas principales durante la transición de los pacientes de la unidad de cuidados intensivos a la unidad de hospitalización: 1) naturaleza de la transición de la UCI, 2) patrones de respuesta y 3) terapéutica enfermera. La terapéutica enfermera incorpora la información, educación y promoción de la autonomía del paciente; además del apoyo psicológico y emocional. Conclusiones: La teoría de las transiciones como marco teórico ayuda a comprender la experiencia de los pacientes durante la transición de la UCI. La terapéutica enfermera de empoderamiento integra las dimensiones dirigidas a satisfacer las necesidades y expectativas de los pacientes durante la misma.(AU)


Objectives: 1) To explore the main characteristics of intensive care unit transition according to patients’ lived experience and 2) to identify nursing therapeutics to facilitate patients’ transition from the intensive care unit to the inpatient unit. Methodology: Secondary analysis of the findings of a descriptive qualitative study on the experience of patients admitted to an ICU during the transition to the inpatient unit, based on the nursing transitions theory. Data for the primary study were generated from 48 semi-structured interviews of patients who had survived critical illness in three tertiary university hospitals. Results: Three main themes were identified during the transition of patients from the intensive care unit to the inpatient unit: 1) nature of ICU transition, 2) response patterns and 3) nursing therapeutics. Nurse therapeutics incorporates information, education and promotion of patient autonomy; in addition to psychological and emotional support. Conclusions: Transitions theory as a theoretical framework helps to understand patients’ experience during ICU transition. Empowerment nursing therapeutics integrates the dimensions aimed at meeting patients’ needs and expectations during ICU discharge.


Asunto(s)
Humanos , Masculino , Femenino , Unidades de Cuidados Intensivos , Enfermería/métodos , Atención de Enfermería , Transiciones en Canales , Diagnóstico de Enfermería , Autonomía Personal , Epidemiología Descriptiva , 25783 , Encuestas y Cuestionarios , Investigación Cualitativa
17.
Neurología (Barc., Ed. impr.) ; 38(7): 447-452, Sept. 2023. tab
Artículo en Español | IBECS | ID: ibc-224777

RESUMEN

Objective: To determine if there is a relationship between environmental exposure to pesticides and the prevalence of Amyotrophic Lateral Sclerosis (ALS) in Andalusia. Method: We carried out a case–control study using the logistic regression method to verify the relationship between the prevalence of ALS in the area exposed to pesticides versus the unexposed area, through the Odds Ratio statistical test. Results: The study population consisted of 519 individuals diagnosed with ALS between January 2016 and December 2018 according to the CMBD (Minimum Basic Data Set) as cases. In the control group, we have 8,384,083 individuals obtained from data from the National Institute of Statistics (INE). The Odds Ratio (OR) was used as a measure of association between cases and controls, obtaining an OR between 0.76 and 1.08 for the confidence interval of the CI (95%). Conclusions: Despite the existence of various studies that suggest a possible association between environmental exposure to pesticides and the risk of Amyotrophic Lateral Sclerosis, our analysis of the Andalusian population did not find significant evidence of this association.(AU)


Objetivo: Analizar si existe una relación entre la exposición ambiental a pesticidas y la prevalencia de esclerosis lateral amiotrófica (ELA) en Andalucía. Métodos: Realizamos un estudio de casos y controles con regresión logística para esclarecer la relación entre la prevalencia de ELA en el área expuesta a pesticidas vs. el área sin exposición, mediante el cálculo de razón de probabilidades (odds ratio [OR]). Resultados: Incluimos un grupo de casos, con 519 individuos diagnosticados de ELA entre enero de 2016 y diciembre de 2018, obtenidos del conjunto mínimo básico de datos, y un grupo control con 8.384.083 individuos obtenidos de la base de datos del Instituto Nacional de Estadística. Se utilizó la OR para medir la asociación entre casos y controles, con un intervalo de confianza del 95% de 0,76-1,08. Conclusiones: A pesar de que varios estudios sugieren una posible asociación entre la exposición ambiental a pesticidas y un aumento en el riesgo de ELA, nuestro estudio sobre la población andaluza no halló datos significativos en favor de dicha hipótesis.(AU)


Asunto(s)
Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Anciano , Esclerosis Amiotrófica Lateral , Plaguicidas , Toxicología , Exposición a Riesgos Ambientales/efectos adversos , Esclerosis Amiotrófica Lateral/complicaciones , Esclerosis Amiotrófica Lateral/microbiología , España/epidemiología , Prevalencia , Estudios de Casos y Controles , Neurología , Enfermedades del Sistema Nervioso/enfermería
18.
Neurologia (Engl Ed) ; 38(7): 447-452, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37659835

RESUMEN

OBJECTIVE: To determine if there is a relationship between environmental exposure to pesticides and the prevalence of Amyotrophic Lateral Sclerosis (ALS) in Andalusia. METHOD: We carried out a case-control study using the logistic regression method to verify the relationship between the prevalence of ALS in the area exposed to pesticides versus the unexposed area, through the Odds Ratio statistical test. RESULTS: The study population consisted of 519 individuals diagnosed with ALS between January 2016 and December 2018 according to the CMBD (Minimum Basic Data Set) as cases. In the control group, we have 8,384,083 individuals obtained from data from the National Institute of Statistics (INE). The Odds Ratio (OR) was used as a measure of association between cases and controls, obtaining an OR between 0.76 and 1.08 for the confidence interval of the CI (95%). CONCLUSIONS: Despite the existence of various studies that suggest a possible association between environmental exposure to pesticides and the risk of Amyotrophic Lateral Sclerosis, our analysis of the Andalusian population did not find significant evidence of this association.


Asunto(s)
Esclerosis Amiotrófica Lateral , Plaguicidas , Humanos , Esclerosis Amiotrófica Lateral/inducido químicamente , Esclerosis Amiotrófica Lateral/epidemiología , Plaguicidas/efectos adversos , España/epidemiología , Estudios de Casos y Controles , Exposición a Riesgos Ambientales/efectos adversos
19.
Rev Esp Quimioter ; 36(6): 592-596, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37575020

RESUMEN

OBJECTIVE: Clinical data on which artificial intelligence (AI) algorithms are trained and tested provide the basis to improve diagnosis or treatment of infectious diseases (ID). We aimed to identify important data for ID research to prioritise efforts being undertaken in AI programmes. METHODS: We searched for 1,000 articlesfrom high-impact ID journals on PubMed, selecting 288 of the latest articles from 10 top journals. We classified them into structured or unstructured data. Variables were homogenised and grouped into the following categories: epidemiology, admission, demographics, comorbidities, clinical manifestations, laboratory, microbiology, other diagnoses, treatment, outcomes and other non-categorizable variables. RESULTS: 4,488 individual variables were collected, from the 288 articles. 3,670 (81.8%) variables were classified as structured data whilst 818 (18.2%) as unstructured data. From the structured data, 2,319 (63.2%) variables were classified as direct-retrievable from electronic health records-whilst 1,351 (36.8%) were indirect. The most frequent unstructured data were related to clinical manifestations and were repeated across articles. Data on demographics, comorbidities and microbiology constituted the most frequent group of variables. CONCLUSIONS: This article identified that structured variables have comprised the most important data in research to generate knowledge in the field of ID. Extracting these data should be a priority when a medical centre intends to start an AI programme for ID. We also documented that the most important unstructured data in this field are those related to clinical manifestations. Such data could easily undergo some structuring with the use of semi-structured medical records focusing on a few symptoms.


Asunto(s)
Algoritmos , Inteligencia Artificial , Humanos , Registros Electrónicos de Salud
20.
Actas Urol Esp (Engl Ed) ; 47(10): 681-687, 2023 Dec.
Artículo en Inglés, Español | MEDLINE | ID: mdl-37355205

RESUMEN

INTRODUCTION: The vacuum-assisted access sheath is a new device for the treatment of kidney stones with percutaneous nephrolithotomy (PCNL). OBJECTIVE: Our aim was to compare the stone-free rate (SFR) and complications between standard mini percutaneous nephrolithotomy (Mini-PCNL) and vacuum-assisted PCNL (Va-PCNL). METHODS: Retrospective study of patients undergoing Mini-PCNL and Va-PCNL from January 2018 to June 2022. Va-PCNL was performed with a disposable sheath (ClearPetra®) with continuous high-flow irrigation and vacuum fluid dynamics for easier stone fragment removal. Baseline patient characteristics, surgical outcomes, perioperative and postoperative data were collected. We compared SFR and complications. RESULTS: A total of 136 patients were identified, 57 (41,9%) underwent Va-PCNL and 79 (58,15%) Mini-PCNL. Mean operative time was significantly shorter in the Va-PCNL group (95 min.) than in Mini-PCNL (146 min; P = ,001) group. The tubeless technique was performed more frequently in Va-PCNL group (61,4% vs. 34,2%; P = ,002). We did not observe any differences in postoperative complications. The mean hospital stay was significantly lower in Va-PCNL with 1,7 ± 1,9 days per patient compared with 2,7 ± 1,5 days in the Mini-PCNL group (P = ,001). There were no differences in SFR at 3 months between Va-PCNL (71,9%) and Mini-PCNL (71,8%; P =v ,848). CONCLUSION: Patients treated with Va-PCNL had comparable results to Mini-PCNL, showing equal SFR with similar infectious complications rates. Potential benefits of Va-PCNL include shorter operative time and postoperative stay.


Asunto(s)
Cálculos Renales , Nefrolitotomía Percutánea , Humanos , Nefrolitotomía Percutánea/efectos adversos , Estudios Retrospectivos , Resultado del Tratamiento , Cálculos Renales/etiología , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología
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