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1.
Clin Genet ; 2024 Jun 24.
Artículo en Inglés | MEDLINE | ID: mdl-38923490

RESUMEN

PURA is mapped to chromosome 5q31 and plays a vital role in neuronal development and synapse formation. Here, we aim to explore PURA's impact on cognitive development and epilepsy phenotype by comparing patients with single nucleotide variants (SNPs) in the PURA gene (PURA-SNP patients) to those with 5q31 microdeletions including PURA (5q31del + PURA) and those with 5q31 microdeletions not including the PURA gene (5q31del-PURA). A systematic literature search was conducted in PubMed. Two separate searches were performed in order to find patients with PURA SNPs and 5q31 microdeletions. This review includes data from 191 patients collected from a total of 18 articles; 174 of the patients had PURA SNPs, 13 had 5q31 microdeletions involving the PURA gene, and 4 had 5q31 microdeletions without PURA gene implication. All patients exhibited hypotonia, feeding difficulties and dysmorphic features, however epilepsy was primarily present in patients with PURA syndrome, that is, groups PURA-SNP and 5q31del + PURA. Regarding the developmental milestones the 5q31del + PURA group stood out as being the most severe, while the 5q31del-PURA group showed a relatively mild phenotype. Our findings support the hypothesis of PURA being the key contributor of developmental delay and epilepsy among patients with PURA syndrome.

2.
Antioxidants (Basel) ; 13(6)2024 Jun 11.
Artículo en Inglés | MEDLINE | ID: mdl-38929147

RESUMEN

Lycium barbarum, commonly recognized as goji berry or wolfberry, is highly appreciated not only for its organoleptic and nutritional properties but also as an important source of bioactive compounds such as polysaccharides, carotenoids, phenolics, and various other non-nutritive compounds. These constituents give it a multitude of health benefits, including antioxidant, anti-inflammatory, and anticancer properties. However, the precise biochemical mechanisms responsible for its anticancer effects remain unclear, and the comprehensive composition of goji berry extracts is often insufficiently explored. This study aimed to investigate the biochemical pathways modulated in breast cancer cells by an ethanolic extract of Lycium barbarum fruit (LBE). Following metabolomic profiling using UHPLC-HRMS/MS, we assessed the antitumoral properties of LBE on different breast cancer cell lines. This investigation revealed that LBE exhibited cytotoxic effects, inducing a pro-oxidant effect that triggered pyroptosis activation through endoplasmic reticulum (ER) stress and subsequent activation of the P-IRE1α/XBP1/NLRP3 axis in MCF-7 cells. In addition, LBE did not display cytotoxicity toward healthy human cells but demonstrated antioxidant properties by neutralizing ROS generated by doxorubicin. These findings underscore the potential of LBE as a highly promising natural extract in cancer therapy.

3.
BMC Nurs ; 23(1): 439, 2024 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-38926730

RESUMEN

BACKGROUND: Advanced practice nursing has emerged as a result of the evolution of healthcare systems, the changing needs of the population and the academic development of nursing, as well as sociodemographic and epidemiological changes. The aim of this study is to describe the professional experiences of Spanish advanced practice nurses in specific positions within the healthcare system in order to better understand the development and characteristics of this specialised nursing role. METHODS: A descriptive qualitative study was conducted. Fourteen advanced practice nurses from healthcare centres participated. Semi-structured interviews were carried out. Braun and Clarke's method for reflexive thematic analysis was followed. The Atlas. Ti version 22 program was used for technological support. The COREQ checklist was used to optimise the reporting of this qualitative study. RESULTS: From the analysis of the data collected, three themes and six subthemes were extracted: 1) Advanced practice nursing on the rise: (a) The driving forces in the development of advanced practice nursing, (b) Barriers to the development of advanced practice nursing; 2) Advanced practice nurses as a response to the population's needs: (a) The development of a new professional nursing role, (b) The patient at the centre of care in advanced practice nursing; 3) Training as the foundation for advanced practice nursing: (a) Expert nurses in a specific context, (b) Differences in the level of training depending on the context. CONCLUSION: Advanced practice nurses have faced countless barriers and difficulties that have impeded them from demonstrating their importance and effectiveness within the healthcare system. A stable regulatory framework for the functions of advanced practice nurses is required to promote care, training and research in the field of advanced practice nursing. Health institutions need to promote the role of advanced practice nurses, facilitate the employment of new professionals, and establish new areas of practice. TRIAL REGISTRATION: Not applicable.

4.
J Clin Invest ; 2024 Jun 13.
Artículo en Inglés | MEDLINE | ID: mdl-38870029

RESUMEN

Leigh syndrome is the most common inherited mitochondrial disease in children and is often fatal within the first few years of life. In 2020, mutations in the gene encoding sulfide:quinone oxidoreductase (SQOR), a mitochondrial protein, were identified as a cause of Leigh syndrome. Here, we report that mice with a mutation in the gene encoding SQOR (SqorΔN/ΔN mice), which prevented SQOR from entering mitochondria, had clinical and pathological manifestations of Leigh syndrome. SqorΔN/ΔN mice had increased blood lactate levels that were associated with markedly decreased complex IV activity and increased hydrogens sulfide (H2S) levels. Because H2S is produced by both gut microbiota and host tissue, we tested whether metronidazole (a broad-spectrum antibiotic) or a sulfur-restricted diet rescues SqorΔN/ΔN mice from developing Leigh syndrome. Daily treatment with metronidazole alleviated increased H2S levels, normalized complex IV activity and blood lactate levels, and prolonged the survival of SqorΔN/ΔN mice. Similarly, a sulfur-restricted diet normalized blood lactate levels and inhibited the development of Leigh syndrome. Taken together, these observations suggest that mitochondrial SQOR is essential to prevent systemic accumulation of H2S. Administration of metronidazole or a sulfur-restricted diet may be therapeutic approaches to treatment of patients with Leigh syndrome caused by mutations in SQOR.

5.
Mov Disord ; 2024 Jun 16.
Artículo en Inglés | MEDLINE | ID: mdl-38881224

RESUMEN

BACKGROUND: Defects in GNAO1, the gene encoding the major neuronal G-protein Gαo, are related to neurodevelopmental disorders, epilepsy, and movement disorders. Nevertheless, there is a poor understanding of how molecular mechanisms explain the different phenotypes. OBJECTIVES: We aimed to analyze the clinical phenotype and the molecular characterization of GNAO1-related disorders. METHODS: Patients were recruited in collaboration with the Spanish GNAO1 Association. For patient phenotyping, direct clinical evaluation, analysis of homemade-videos, and an online questionnaire completed by families were analyzed. We studied Gαo cellular expression, the interactions of the partner proteins, and binding to guanosine triphosphate (GTP) and G-protein-coupled receptors (GPCRs). RESULTS: Eighteen patients with GNAO1 genetic defects had a complex neurodevelopmental disorder, epilepsy, central hypotonia, and movement disorders. Eleven patients showed neurological deterioration, recurrent hyperkinetic crisis with partial recovery, and secondary complications leading to death in three cases. Deep brain stimulation improved hyperkinetic crisis, but had inconsistent benefits in dystonia. The molecular defects caused by pathogenic Gαo were aberrant GTP binding and hydrolysis activities, an inability to interact with cellular binding partners, and reduced coupling to GPCRs. Decreased localization of Gαo in the plasma membrane was correlated with the phenotype of "developmental and epileptic encephalopathy 17." We observed a genotype-phenotype correlation, pathogenic variants in position 203 were related to developmental and epileptic encephalopathy, whereas those in position 209 were related to neurodevelopmental disorder with involuntary movements. Milder phenotypes were associated with other molecular defects such as del.16q12.2q21 and I344del. CONCLUSION: We highlight the complexity of the motor phenotype, which is characterized by fluctuations throughout the day, and hyperkinetic crisis with a distinct post-hyperkinetic crisis state. We confirm a molecular-based genotype-phenotype correlation for specific variants. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

6.
Clin Rheumatol ; 2024 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-38922553

RESUMEN

INTRODUCTION/OBJECTIVES: The heterodimer exostosin-1/exostosin-2 (EXO-1/2) is a novel antigen observed in membranous nephropathy associated with systemic lupus erythematosus. This study aimed to evaluate the association between EXO-1/2 positivity in kidney biopsy and kidney outcomes. METHODS: The kidney biopsy tissue from 50 class 5 lupus nephritis (LN) and 55 mixed class 3/4 + 5 LN patients was stained for EXO-1/2. Baseline clinical and histological characteristics were compared between EXO-1/2 positive and EXO-1/2 negative patients. Time-to-event analyses were performed to compare rates of response to therapy, kidney flares, and progression to a 40% decline of the glomerular filtration rate (eGFR), doubling of serum creatinine, and kidney failure. RESULTS: Fourteen out of 50 (28%) of class 5 and 5 out of 55 (9%) of mixed class 3/4 + 5 LN stained positive for EXO-1/2. Patients with class 5 LN and EXO-1/2 positive stain were younger, with better kidney function at presentation, and lower scarring in the kidney biopsy analysis. Over a median follow-up of 100 months, patients with positive EXO-1/2 staining had significantly lower rates of progression in the full cohort. When analyzed separately in class 5 and mixed class LN subgroups, there were significantly lower rates of progression to a 40% decline of the eGFR and non-statistically significant trends for doubling of serum creatinine and kidney failure. CONCLUSION: EXO-1/2 is a novel antigen detected in class 5 LN and associated with a good prognosis of kidney function. The incorporation of EXO-1/2 staining in clinical practice can potentially modify the management of LN due to its prognostic implications. Key Points • Exostosin-1/exostosin-2 antigen has been found in cases of membranous nephropathy associated with autoimmune diseases such as systemic lupus erythematosus. • Exostosin-1/exostosin-2 staining in the kidney biopsy of class 5 or mixed class 3/4 + 5 lupus nephritis is associated with a good long-term prognosis of kidney function. • The incorporation of exostosin-1/exostosin-2 staining into clinical practice can potentially modify management due to its prognostic implications.

7.
J Surg Case Rep ; 2024(6): rjae426, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38915343

RESUMEN

Solitary fibrous tumor (SFT) of the lung is a rare neoplasm, usually originating from lung pleura. We present a case report of a 57-year-old male with no significant medical history who was incidentally diagnosed with an SFT of lung parenchyma on chest computed tomography scan. Radiological imaging revealed a well-defined mass in the left lower lobe of the lung. Biopsy and histopathological examination confirmed the diagnosis of solitary fibrous tumor. This case highlights the importance of considering SFT in the differential diagnosis of lung masses, as its clinical presentation and radiological features can mimic those of more common pulmonary malignancies.

8.
Epileptic Disord ; 2024 May 23.
Artículo en Inglés | MEDLINE | ID: mdl-38780451

RESUMEN

Pathogenic variants in CACNA1E are associated with early-onset epileptic and developmental encephalopathy (DEE). Severe to profound global developmental delay, early-onset refractory seizures, severe hypotonia, and macrocephaly are the main clinical features. Patients harboring the recurrent CACNA1E variant p.(Gly352Arg) typically present with the combination of early-onset DEE, dystonia/dyskinesia, and contractures. We describe a 2-year-and-11-month-old girl carrying the p.(Gly352Arg) CACNA1E variant. She has a severe DEE with very frequent drug-resistant seizures, profound hypotonia, and episodes of dystonia and dyskinesia. Long-term video-EEG-monitoring documented subsequent tonic asymmetric seizures during wakefulness and mild paroxysmal dyskinesias of the trunk out of sleep which were thought to be a movement disorder and instead turned out to be focal hyperkinetic seizures. This is the first documented description of the EEG findings in this disorder. Our report highlights a possible overlap between cortical and subcortical phenomena in CACNA1E-DEE. We also underline how a careful electro-clinical evaluation might be necessary for a correct discernment between the two disorders, playing a fundamental role in the clinical assessment and proper management of children with CACNA1E-DEE.

9.
Drug Alcohol Depend ; 260: 111322, 2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-38728924

RESUMEN

Sweet foods activate the reward system that is essential in processing natural reinforcers. Maturation changes in this system during adolescence are linked to heightened impulsivity and risk-seeking behavior, including the use of drugs like ethanol. This usually starts with the consumption of sugary mixtures. However, the influence of sugar exposure on ethanol consumption remains inconclusive. The present research examines the effect of long-term sugar exposure on sugary ethanol (S-EtOH) preference and net intake, exploring the implications of sex, age, accessor restriction of sugar, and its effect during the transition into adulthood. Wistar rats of both sexes were given 24-hour access to a sugar solution for 21 days during adolescence or adulthood. Subsequently, four preference tests of S-EtOH vs. water were carried out every other day, with or without sugar access between each preference test. Our results demonstrate that continuous acute and long-term sugar access induces a consummatory suppression effect on S-EtOH intake, particularly in adult rats, irrespective of sex. This effect becomes more pronounced with more extended periods of exposure to sugar, leading to a higher prevalence of low consumers. Notably, when sugar access was restricted after high familiarization, the suppression effect in adolescent male rats was reduced. Under these conditions, the rats appeared to be more susceptible to developing a preference for S-EtOH consumption. Furthermore, our longitudinal observations reveal that sugar access or restriction conditions during the transition from adolescence to adulthood play a crucial role in shaping S-EtOH consumption patterns in adulthood.


Asunto(s)
Consumo de Bebidas Alcohólicas , Etanol , Ratas Wistar , Animales , Masculino , Femenino , Ratas , Etanol/farmacología , Etanol/administración & dosificación , Consumo de Bebidas Alcohólicas/psicología , Caracteres Sexuales , Factores de Edad , Conducta Consumatoria/efectos de los fármacos , Envejecimiento/efectos de los fármacos
10.
Genes (Basel) ; 15(5)2024 05 04.
Artículo en Inglés | MEDLINE | ID: mdl-38790214

RESUMEN

Large-scale genomic studies have significantly increased our knowledge of genetic variability across populations. Regional genetic profiling is essential for distinguishing common benign variants from disease-causing ones. To this end, we conducted a comprehensive characterization of exonic variants in the population of Navarre (Spain), utilizing whole genome sequencing data from 358 unrelated individuals of Spanish origin. Our analysis revealed 61,410 biallelic single nucleotide variants (SNV) within the Navarrese cohort, with 35% classified as common (MAF > 1%). By comparing allele frequency data from 1000 Genome Project (excluding the Iberian cohort of Spain, IBS), Genome Aggregation Database, and a Spanish cohort (including IBS individuals and data from Medical Genome Project), we identified 1069 SNVs common in Navarre but rare (MAF ≤ 1%) in all other populations. We further corroborated this observation with a second regional cohort of 239 unrelated exomes, which confirmed 676 of the 1069 SNVs as common in Navarre. In conclusion, this study highlights the importance of population-specific characterization of genetic variation to improve allele frequency filtering in sequencing data analysis to identify disease-causing variants.


Asunto(s)
Frecuencia de los Genes , Polimorfismo de Nucleótido Simple , Humanos , España , Polimorfismo de Nucleótido Simple/genética , Secuenciación Completa del Genoma , Masculino , Femenino , Genética de Población , Variación Genética , Genoma Humano , Exoma/genética , Estudios de Cohortes
11.
An. pediatr. (2003. Ed. impr.) ; 100(4): 268-274, abril 2024. ilus
Artículo en Español | IBECS | ID: ibc-232097

RESUMEN

Durante el embarazo, los cambios fisiológicos en la respuesta inmunitaria favorecen que las gestantes sean más susceptibles a infecciones graves, tanto para ellas como para el feto, el recién nacido y el lactante. Todas las mujeres deberían entrar en el período reproductivo con su calendario vacunal correctamente cumplimentado, sobre todo en lo que respecta a enfermedades como tétanos, hepatitisB, sarampión, rubeola y varicela. Además de las vacunas recomendadas, en situaciones de riesgo las vacunas inactivadas podrían ser administradas en aquellas mujeres que no estuvieran correctamente inmunizadas con anterioridad, mientras que las atenuadas están contraindicadas.A pesar de que la vacunación durante el embarazo es una medida preventiva muy importante, y de las recomendaciones de autoridades sanitarias, sociedades científicas y profesionales sanitarios, las coberturas vacunales son claramente mejorables, especialmente en lo que respecta a gripe y COVID-19, por lo que todo profesional sanitario que atienda a la embarazada debe ser proactivo en aconsejarlas.La Asociación Española de Pediatría (AEP), a través de su Comité Asesor de Vacunas (CAV), y la Sociedad Española de Ginecología y Obstetricia (SEGO) recomiendan las siguientes vacunaciones durante la gestación: frente a gripe y COVID-19, en cualquier trimestre del embarazo, y durante el puerperio (hasta los 6meses) en aquellas que no hubieran sido vacunadas durante la gestación; frente a tosferina con Tdpa, entre las 27 y 36 semanas de gestación (el CAV-AEP da preferencia entre las 27 y 28 semanas); y frente al VRS con RSVPreF, entre las 24 y 36 semanas de gestación, de preferencia entre las 32 y 36 semanas. (AU)


During pregnancy, physiological changes in the immune response make pregnant women more susceptible to serious infection, increasing the risk for the mother as well as the foetus, newborn and infant. All women should be correctly and fully vaccinated as they enter their reproductive years, especially against diseases such as tetanus, hepatitisB, measles, rubella and varicella. In addition to the recommended vaccines, in risk situations, inactivated vaccines could be administered to women who were not correctly vaccinated before, while attenuated vaccines are contraindicated.Despite the fact that vaccination during pregnancy is a very important preventive measure and the existing recommendations from public health authorities, scientific societies and health professionals, the vaccination coverage could clearly be improved, especially against influenza and SARS-CoV-2, so any health professional involved in the care of pregnant women should proactively recommend these vaccines.The Spanish Association of Pediatrics (AEP), through its Advisory Committee on Vaccines (CAV), and the Spanish Society of Gynaecology and Obstetrics (SEGO) recommend vaccination against the following diseases during pregnancy: against influenza and COVID-19, in any trimester of pregnancy and during the postpartum period (up to 6months post birth) in women not vaccinated during pregnancy; against pertussis, with the Tdap vaccine, between weeks 27 and 36 of gestation (in the CAV-AEP recommendations, preferably between weeks 27 and 28); and against RSV, with RSVPreF, between weeks 24 and 36 of gestation, preferably between weeks 32 and 36. (AU)


Asunto(s)
Humanos , Embarazo , Vacunación , Tos Ferina , Gripe Humana , Síndrome Respiratorio Agudo Grave
12.
Clin Appl Thromb Hemost ; 30: 10760296241238211, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38566607

RESUMEN

Venous thromboembolism (VTE), including deep venous thrombosis (DVT) and pulmonary embolism (PE), represents a substantial healthcare challenge. Provoked and unprovoked DVT cases carry distinct risks and treatment considerations. Recognizing the limitations of this classification, molecular markers may enhance diagnostic precision and guide anticoagulation therapy duration relying on patient history and risk factors. This preliminary, open-label, prospective cohort study was conducted including 15 patients (10 provoked DVT and 5 unprovoked DVT) and a control group of healthy plasmatic subjects. Plasma levels of 9 biomarkers were measured at diagnosis (baseline, day 0, and D0) and after 30 days (day 30-D30). Patient demographics, clinical data, and biomarker concentrations were analyzed. Serum concentrations of D-dimer, von Willebrand factor, C-reactive protein, and Anti-Xa were elevated in DVT groups at D0 compared to controls. No significant differences were observed between the provoked and unprovoked groups on the day of diagnosis and 30 days later. Over 30 days, the provoked group exhibited significant biomarker changes related to temporal assessment. No significant differences were noted in the biomarker profile between provoked and unprovoked DVT groups. This study is indicative of the concept of individualized thrombosis assessment and subsequent treatment for VTE. Larger cohorts are warranted to validate these findings and further define the most appropriate use of the molecular markers.


Asunto(s)
Embolia Pulmonar , Tromboembolia Venosa , Trombosis de la Vena , Humanos , Tromboembolia Venosa/tratamiento farmacológico , Estudios Prospectivos , Anticoagulantes/uso terapéutico , Embolia Pulmonar/tratamiento farmacológico , Factores de Riesgo , Biomarcadores , Recurrencia
13.
An Pediatr (Engl Ed) ; 100(4): 268-274, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38565447

RESUMEN

During pregnancy, physiological changes in the immune response make pregnant women more susceptible to serious infection, increasing the risk for the mother as well as the foetus, newborn and infant. All women should be correctly and fully vaccinated as they enter their reproductive years, especially against diseases such as tetanus, hepatitis B, measles, rubella and varicella. In addition to the recommended vaccines, in risk situations, inactivated vaccines could be administered to women who were not correctly vaccinated before, while attenuated vaccines are contraindicated. Despite the fact that vaccination during pregnancy is a very important preventive measure and the existing recommendations from public health authorities, scientific societies and health professionals, the vaccination coverage could clearly be improved, especially against influenza and SARS-CoV-2, so any health professional involved in the care of pregnant women should proactively recommend these vaccines. The Spanish Association of Pediatrics (AEP), through its Advisory Committee on Vaccines, and the Spanish Society of Gynaecology and Obstetrics (SEGO) recommend vaccination against the following diseases during pregnancy: against influenza and COVID-19, in any trimester of pregnancy and during the postpartum period (up to 6 months post birth) in women not vaccinated during pregnancy; against pertussis, with the Tdap vaccine, between weeks 27 and 36 of gestation (in the CAV-AEP recommendations, preferably between weeks 27 and 28); and against RSV, with RSVPreF, between weeks 24 and 36 of gestation, preferably between weeks 32 and 36.


Asunto(s)
COVID-19 , Complicaciones Infecciosas del Embarazo , Vacunación , Humanos , Embarazo , Femenino , Vacunación/normas , Complicaciones Infecciosas del Embarazo/prevención & control , COVID-19/prevención & control , Vacunas contra la COVID-19/administración & dosificación , Gripe Humana/prevención & control , Vacunas contra la Influenza/administración & dosificación
14.
Ugeskr Laeger ; 186(13)2024 03 25.
Artículo en Danés | MEDLINE | ID: mdl-38533859

RESUMEN

Cognitive dysfunction is a well-known consequence of epilepsy in children. This review summarizes cognitive difficulties presenting in different types of childhood epilepsy. The possibility of screening and monitoring cognitive dysfunction is desirable to provide optimal support and treatment. The clinical test tool EpiTrack Junior is introduced. It was developed for screening and continuous monitoring of cognitive function in children with epilepsy.


Asunto(s)
Disfunción Cognitiva , Epilepsia , Niño , Humanos , Anticonvulsivantes/uso terapéutico , Pruebas Neuropsicológicas , Epilepsia/tratamiento farmacológico , Disfunción Cognitiva/tratamiento farmacológico , Cognición
15.
Life (Basel) ; 14(3)2024 Mar 21.
Artículo en Inglés | MEDLINE | ID: mdl-38541744

RESUMEN

Lycium barbarum, known as goji berry or wolfberry, is a fruit long associated with health benefits, showing a plethora of effects ranging from antioxidant, anticancer, anti-inflammatory, and immunomodulatory effects. Its potential is attributed to the significant presence of polysaccharides, glycopeptides, polyphenols, flavonoids, carotenoids, and their derivatives. These compounds effectively counteract the action of free radicals, positively influencing cellular balance and intracellular signaling, contributing to overall cell health and function acting on multiple molecular pathways. Several fractions extracted from goji berries demonstrate antitumor properties, particularly effective against breast cancer, without showing cytotoxic effects on normal human cells. Hence, the review explored the fundamental traits of bioactive elements in Lycium barbarum and their potential in cancer treatment and, specifically, breast cancer. It focused on elucidating wolfberry's influenced biochemical pathways, its synergism with anticancer drugs, and its potential to alleviate the side effects associated with existing cancer treatments.

16.
Cureus ; 16(1): e52329, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38361685

RESUMEN

Hematopoietic stem-cell transplantation (HSCT) has emerged as a groundbreaking therapeutic option for acute myeloid leukemia (AML) and specific subtypes of acute lymphoblastic leukemia (ALL). The prognostic significance of the NOD2/CARD15 gene has been explored alongside various factors, encompassing diverse patient cohorts and gene variants. Siblings and unrelated donors used for stem cell transplantation exhibit significant associations between their genetic variations and graft-versus-host disease incidence. The transplantation of stem cells for leukemia patients involves numerous considerations, including patient survival, relapse rates, disease stage, donor and recipient ages, and compatibility. This study delved into research on the NOD2/CARD15 gene and its mutations to assess its suitability as a screening tool. A comprehensive literature search encompassing PubMed, ScienceDirect, and Google Scholar articles yielded 4,840 articles. After removing duplicates and applying inclusion and exclusion criteria, we narrowed the search results to 876 articles. Subsequent screening of abstracts and titles resulted in the selection of 230 relevant articles. Further exclusion of 198 articles unrelated to the research question led to the scrutinizing of 32 full-text articles, which were assessed against inclusion and exclusion criteria. Emphasis was placed on articles that specifically investigated the role of NOD2/CARD15 as a predictive factor for HSCT outcomes, ultimately resulting in the inclusion of 19 articles in this study. Single nucleotide polymorphisms (SNPs) such as NOD2 and CARD15 have demonstrated their potential as reliable genetic markers for predicting post-transplantation relapse and disease outcomes. Patients positive for these genetic markers have exhibited reduced overall survival and event-free survival and increased transplant-related mortality. Interventions with interferon-gamma and muramyl tripeptide phosphatidylethanolamine have been considered to mitigate the inflammatory effects of these SNPs, thus enhancing the influence of natural killer cells on abnormal cells and potentially extending patient survival. NOD2/CARD15 typing may aid in identifying patients at higher risk for relapse and improving their clinical outcomes after allogeneic stem cell transplant, particularly in ALL patients. However, no remarkable change was observed in AML patients. Additionally, this study underscores the pivotal roles of adaptive and innate immune responses and their interplay in stem cell transplant immunology.

17.
Int J Mol Sci ; 25(3)2024 Jan 28.
Artículo en Inglés | MEDLINE | ID: mdl-38338894

RESUMEN

This review focuses on the role of small extracellular vesicles in the pathophysiological mechanisms of retinal degenerative diseases. Many of these mechanisms are related to or modulated by the oxidative burden of retinal cells. It has been recently demonstrated that cellular communication in the retina involves extracellular vesicles and that their rate of release and cargo features might be affected by the cellular environment, and in some instances, they might also be mediated by autophagy. The fate of these vesicles is diverse: they could end up in circulation being used as markers, or target neighbor cells modulating gene and protein expression, or eventually, in angiogenesis. Neovascularization in the retina promotes vision loss in diseases such as diabetic retinopathy and age-related macular degeneration. The importance of micro RNAs, either as small extracellular vesicles' cargo or free circulating, in the regulation of retinal angiogenesis is also discussed.


Asunto(s)
Vesículas Extracelulares , MicroARNs , Degeneración Retiniana , Humanos , Retina/metabolismo , Degeneración Retiniana/metabolismo , Vesículas Extracelulares/metabolismo , MicroARNs/genética , MicroARNs/metabolismo , Estrés Oxidativo
18.
Healthcare (Basel) ; 12(2)2024 Jan 10.
Artículo en Inglés | MEDLINE | ID: mdl-38255051

RESUMEN

Introduction: The COVID-19 pandemic caused an international health emergency situation where nursing took on a fundamental role. The high number of patients in hospital ICUs led to a shift in nurses' working conditions and workload. Objective: The objective of this study was to describe the experiences of nurses who worked in ICUs during the acute phase of the COVID-19 pandemic. Methodology: A qualitative, descriptive study was carried out, with the participation of 21 nurses who worked in the ICU during the pandemic. Data collection took place between May and July 2021 through 21 in-depth interviews. Results: Three main themes emerged: (1) COVID-19 in ICUs: nurses on the frontline. (2) United against adversity: teamwork. (3) New optics of critical care and the nursing profession. COVID-19 was perceived with harshness, and the lack of knowledge about the virus generated confusion, anxiety and fear due to the risk of transmission to family members and relatives. The pandemic marked a shift in the management of human, material and economic resources. Novice nurses learned critical care at an accelerated pace, with significant physical and psychological strain. Expert nurses carried the burden of training new nurses. Although there were tense situations, experiencing these adverse situations as a team led to feelings of increased belonging, togetherness and professional bonding for nurses. While the participants noted an increase in motivation to continue in their profession, they also had a feeling of not having been cared for as they deserve by healthcare institutions.

19.
Children (Basel) ; 11(1)2024 Jan 16.
Artículo en Inglés | MEDLINE | ID: mdl-38255423

RESUMEN

BACKGROUND: Adolescence is a crucial time in the development of young people's identity, and sexuality is a key issue. Comprehensive sex education provides the knowledge and skills to help adolescents protect their sexual and reproductive health and rights. Policies on sex education in secondary schools are highly influential in the development of quality programmes that support comprehensive sex education. The aim of this study was to explore, describe and understand adolescents' experiences of sex education. METHODS: A qualitative study based on Gadamer's phenomenology was used. Two focus groups and four in-depth interviews were conducted with 12 private school students, followed by inductive data analysis using ATLAS.ti software 9.0. RESULTS: Two main themes were identified in the analysis: (1) sex education is a challenge for secondary schools and (2) student expectations of sex education. CONCLUSION: It is essential for adolescents to have access to comprehensive sex education that is adapted to the different stages of their development, is provided by specialised teachers, and involves their families in the process.

20.
Geriatr Nurs ; 55: 362-367, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38171187

RESUMEN

The objective of this research was to analyze the risk of adverse effects in patients older than 65 years with dementia and in concomitant treatment with antidementia and antipsychotic drugs and who are cared for by community nurses. A retrospective cross-sectional descriptive study was carried out. A total of 332 patients who were cared for by primary care teams participated. Most of the patients were women, totally dependent for the basic activities of daily living and residing in the family home. They were polymedicated and there was poor therapeutic adherence. The risk of adverse effects was higher in polymedicated patients who had been taking antipsychotics for longer periods and in those who had a main caregiver. However, those patients who had been assessed by the community nurse were protected from suffering adverse effects. This study demonstrates how integrated and continuous nursing care can reduce adverse effects in this type of patient.


Asunto(s)
Antipsicóticos , Demencia , Humanos , Femenino , Anciano , Masculino , Antipsicóticos/efectos adversos , Vida Independiente , Estudios Transversales , Estudios Retrospectivos , Actividades Cotidianas
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