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1.
iScience ; 27(7): 110247, 2024 Jul 19.
Artículo en Inglés | MEDLINE | ID: mdl-39006483

RESUMEN

Cortical tracking of speech is relevant for the development of speech perception skills. However, no study to date has explored whether and how cortical tracking of speech is shaped by accumulated language experience, the central question of this study. In 35 bilingual children (6-year-old) with considerably bigger experience in one language, we collected electroencephalography data while they listened to continuous speech in their two languages. Cortical tracking of speech was assessed at acoustic-temporal and lexico-semantic levels. Children showed more robust acoustic-temporal tracking in the least experienced language, and more sensitive cortical tracking of semantic information in the most experienced language. Additionally, and only for the most experienced language, acoustic-temporal tracking was specifically linked to phonological abilities, and lexico-semantic tracking to vocabulary knowledge. Our results indicate that accumulated linguistic experience is a relevant maturational factor for the cortical tracking of speech at different levels during early language acquisition.

2.
Artículo en Inglés | MEDLINE | ID: mdl-39002929

RESUMEN

Substance Use Disorder (SUD) represents one of the most frequent conditions worldwide which commonly coexists with major depressive disorder (MDD). This comorbidity (SUD + MDD) is one of the most prevalent with patients showing certain social and clinical characteristics that could lead to a worsening of their cognitive performance. However, despite these particularities, only a few studies have addressed the possible differences in cognitive performance between patients with SUD + MDD compared with those with SUD-only patients. Therefore, the aim of this study is to examine the clinical and cognitive profile of patients with SUD + MDD vs. SUD-only who are in early remission phase. For this purpose, 271 male patients underwent a clinical and neuropsychological assessment (SUD + MDD group: N = 101; SUD-only group: N = 170). Results indicated that SUD + MDD patients showed worse cognitive performance than SUD in visuospatial reasoning, verbal memory and learning, recognition, and processing speed even after a 3-month period of abstinence. Furthermore, these patients exhibited more self-reported prefrontal symptoms, as well as worse social and clinical conditions. This study indicates that the neurocognitive and clinical profile of patients with SUD + MDD could represent a risk since their characteristics have been associated with poorer recovery and prognosis. Our results could be helpful in clinical practice highlighting the need for cognitive remediation strategies in these populations, providing information that would allow the implementation of more appropriate treatments and preventive strategies.

3.
Health Equity ; 8(1): 301-306, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39011077

RESUMEN

Background: The evolution of ischemic stroke is different accordin'g to sex and is one of the main causes of death in women. Previous studies have shown that women are less likely to receive acute treatment, and stroke center type is an important predictor of door-to-needle times. We investigated whether women are attended in a similar way to men in the telestroke network with specialized stroke physicians. Methods: A prospective registry of ischemic strokes recorded in the centralized Andalusian telestroke network was analyzed, focusing on sex differences. Demographic data, clinical characteristics, neuroimaging data, treatment intervals, follow-up visits, and clinical outcomes were collected. Results: A total of 3009 suspected stroke patients were attended to in the telestroke network from 2019 to 2023, of which 42.74% were women. Women were older (p < 0.001) and less independent upon arrival (p = 0.006) than men. There was no difference in the treatment received or in the treatment time intervals between the groups. Importantly, there was no difference in modified Rankin scale scores at 3 months between sexes. At 3 months post-stroke follow-up, women had fewer imaging tests (p = 0.018) and fewer outpatient visits (p < 0.001) than men. Conclusions: No significant difference between men and women has been found in the acute treatment of stroke in a large telestroke network. However, the same is not true for the follow-up and management of patients after the acute phase. This fact supports that strict adherence to protocols and specialization of care lead to equal care that avoids sex differences in stroke treatment and functional outcomes.

4.
BMC Ophthalmol ; 24(1): 263, 2024 Jun 19.
Artículo en Inglés | MEDLINE | ID: mdl-38898421

RESUMEN

BACKGROUND: Paraproteinemic keratopathy is a rare disorder characterized by the bilateral accumulation of polychromatic deposits diffusely in all corneal layers together or not with diffuse or patchy pseudo lipid deposits. We present an atypical case of paraproteinemic keratopathy which lead to an initial misdiagnosis of infectious crystalline keratopathy. CASE PRESENTATION: a 69-year-old woman with an asymptomatic keratopathy detected during a cataract intervention. Slit-lamp examination revealed several hyper refringent subepithelial foci with fern-shaped branches, resembling crystalline keratopathy, in her left eye. Anterior segment optical coherence tomography revealed exclusively subepithelial hyperreflective lesions limited to the anterior stroma. The progressive bilateralization and progression of the condition prompted us to include other entities with crystalline corneal deposits in our differential diagnosis. Hematological analysis showed a high number of free Kappa light chains. Despite the typical clinical appearance of crystalline keratopathy, the atypical evolution and test results led us to consider that monoclonal gammopathy could be the cause of this entity. CONCLUSIONS: Paraproteinemic keratopathy may present in its early stages as a unilateral subepithelial crystalline keratopathy. Thus, it must always be taken into account in the differential diagnosis of any crystalline keratopathy, particularly when there are no predisposing factors for an infectious crystalline keratopathy. Early recognition of this rare entity is important to address the associated potentially serious systemic disease.


Asunto(s)
Enfermedades de la Córnea , Paraproteinemias , Tomografía de Coherencia Óptica , Humanos , Anciano , Femenino , Diagnóstico Diferencial , Enfermedades de la Córnea/diagnóstico , Paraproteinemias/diagnóstico , Paraproteinemias/complicaciones , Tomografía de Coherencia Óptica/métodos
5.
BMC Palliat Care ; 23(1): 157, 2024 Jun 21.
Artículo en Inglés | MEDLINE | ID: mdl-38907206

RESUMEN

BACKGROUND: Cancer is a disease that transcends what is purely medical, profoundly affecting the day-to-day life of both patients and family members. Previous research has shown that the consequences of cancer are greatly aggravated in patients at the end of life, at a time when they must also grapple with numerous unmet needs. The main objective of this study was to obtain more in-depth insight into these needs, primarily in patients with end-stage cancer nearing death. METHODS: Semi-structured interviews were conducted in Spain with cancer patients at the end of life (n = 3) and their family members (n = 12). The findings from the interviews were analyzed using qualitative thematic analysis and a grounded theory approach. RESULTS: Four major themes emerged from the interviews that explored the needs and concerns of patients with cancer at the end of life: (1) physical well-being (2) emotional well-being (3) social well-being and (4), needs relating to information and autonomous decision-making. The interviews also shed light on the specific needs of family members during this period, namely the difficulties of managing increased caregiver burden and maintaining a healthy work-life balance. CONCLUSIONS: A lack of support, information and transparency during a period of immense vulnerability makes the end-of-life experience even more difficult for patients with cancer. Our findings highlight the importance of developing a more in-depth understanding of the needs of this population, so that informed efforts can be made to improve palliative healthcare and implement more comprehensive care and support at the end of life.


Asunto(s)
Familia , Neoplasias , Investigación Cualitativa , Cuidado Terminal , Humanos , Neoplasias/psicología , Neoplasias/terapia , Neoplasias/complicaciones , Masculino , Femenino , Cuidado Terminal/psicología , Cuidado Terminal/métodos , Cuidado Terminal/normas , Persona de Mediana Edad , Anciano , Familia/psicología , España , Adulto , Teoría Fundamentada , Entrevistas como Asunto/métodos , Cuidadores/psicología , Anciano de 80 o más Años , Evaluación de Necesidades
6.
Heliyon ; 10(9): e29831, 2024 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-38742079

RESUMEN

Mathematics teaching strategies have a positive impact on learning. However, there is a lack of studies on non-traditional approaches to early mathematics education in the specialized scientific literature. In this theoretical framework, a study to connect teaching methodology with the various cognitive processes implicated in learning has been designed. A total of 114 primary school students aged 74 and 84 months who were taught mathematics either with the method called Open Algorithm Based on Numbers or with the more traditional Closed Algorithm Based on Ciphers, participated in the study. After conducting a thorough examination of cognitive processes and early math performance using well-established assessment instruments, a comparative analysis was undertaken to explore the relationship between cognitive predictors of mathematical performance, while considering the mathematics teaching strategies used. Students were distributed according to their level of mathematical competence and teaching methodology and the type of schools (Charter or Public). The results from the multivariate statistical test showed that the teaching strategy was inconclusive for most of the cognitive factors studied. Significant differences according to mathematical performance were found for fluid intelligence, verbal short-term memory, and visuospatial working memory. Finally, no significant differences were found in the cognitive variables studied when considering the interaction between the teaching approach, school characteristics, and mathematical achievement as a reference.

7.
Materials (Basel) ; 17(10)2024 May 12.
Artículo en Inglés | MEDLINE | ID: mdl-38793354

RESUMEN

The co-processing of different wastes as fuels in the manufacture of cement clinker not only meets the objectives of a circular economy but also contributes to the reduction in CO2 emissions in the manufacture of Portland cement. However, waste used as alternative fuels, such as sludge or organic-rich residues, may contain naturally occurring radionuclides that can be concentrated during the combustion process. In this study, the presence of natural radionuclides (radioactive series of uranium, thorium, and 40K) and anthropogenic radionuclides (137Cs) in these wastes has been investigated by gamma spectrometry. Possible relationships between the radioactive content and the obtained chemical composition, determined by X-ray fluorescence, have also been studied by applying a principal component analysis (PCA). The results showed that the wastes with the highest radioactive content were sewage sludge with activity concentrations of 238U and 210Pb of 321 ± 38 Bq kg-1 and 110 ± 14 Bq kg-1, respectively. A correlation between radioactive content and Fe2O3 concentration was also observed. The annual effective dose rates to workers for the ashes estimated from the ash content ranged from 0.0033 mSv to 0.092 mSv and therefore do not pose a risk to workers as they are lower than the 1 mSv per year limit for the general public (DIRECTIVE 2013/59/EURATOM).

8.
J Exp Bot ; 2024 May 29.
Artículo en Inglés | MEDLINE | ID: mdl-38808567

RESUMEN

Hydrogen sulfide regulates essential plant processes, including adaptation responses to stress situations, and the best characterized mechanism of action of sulfide consists of the posttranslational modification of persulfidation. In this study, we reveal the first persulfidation proteome described in rice including 3443 different persulfidated proteins that participate in a broad range of biological processes and metabolic pathways. In addition, comparative proteomics revealed specific proteins involved in sulfide signaling during drought responses. Several proteins involved in the maintenance of cellular redox homeostasis, the TCA cycle and energy-related pathways, and ion transmembrane transport and cellular water homeostasis, highlighting the aquaporin family, showed the highest differential levels of persulfidation. We revealed that water transport activity is regulated by sulfide which correlates to an increasing level of persulfidation of aquaporins. Our findings emphasize the impact of persulfidation on total ATP levels, fatty acid composition, ROS levels, antioxidant enzymatic activities, and relative water content. Interestingly, the persulfidation role on aquaporin transport activity as an adaptation response in rice differs from the current knowledge in Arabidopsis, which emphasizes the distinct role of sulfide improving rice tolerance to drought.

9.
Haematologica ; 2024 May 09.
Artículo en Inglés | MEDLINE | ID: mdl-38721737

RESUMEN

Hyperleukocytosis (HL) in pediatric acute myeloid leukemia (AML) is associated with severe complications and inferior outcome. We report results on HL patients included in the NOPHO-DBH AML 2012 study. We recommended immediate start of full dose chemotherapy (etoposide [ETO] monotherapy for 5 days as part of the first course), avoiding leukapheresis (LA) and prephase chemotherapy (PCT). Of 714 included patients, 122 (17.1%) had HL, and 111 were treated according to the recommendations with ETO upfront without preceding LA or PCT. The first dose was applied the same day as the AML diagnosis or the day after in 94%. ETO was administered via peripheral veins in 37% of patients without major complications. After initiation of ETO the remaining WBC on days 2-5 was 69%, 36%, 17% and 8% of the pre-treatment level. On day 3, 81% had a WBC.

10.
Hosp Pediatr ; 14(6)2024 May 07.
Artículo en Inglés | MEDLINE | ID: mdl-38712444

RESUMEN

OBJECTIVES: The Pediatric psychoSocial Risk Index (PSRI) is psychosocial risk screening instrument for health practitioners. The objective of this study was to confirm validity evidence of a truncated version of PSRI. METHODS: PSRI was completed initially by 100 parents of children aged 0 to 18 years admitted to a tertiary hospital; 50 parents repeated the PSRI 3 days later. Analysis includes principal component analysis (PCA) to include the least number of items that explain the most variance in a shortened version of PSRI as well as confirming test-retest reliability and internal consistency of the shortened instrument. RESULTS: PSRI originally had 86 items, 85 close-ended items were analyzed. Three items were excluded because of missing test-retest data. Item reduction resulted in truncation of 16 items; 66 items remained. A Kaiser-Mayer-Orkin test of sampling adequacy resulted in reduction of 14 items; 52 items remained. Initial PCA led to reduction of 26 items. The PCA was rerun on remaining items, resulting in reduction of 6 further items; 18 items remained. Two items with >10% missingness were removed leaving 16 items in the final PSRI. Test-retest reliability was 0.98 and mean within-person across-item reliability was 0.95. Cronbach α was 0.9. Remaining items represented 9 social risk themes: food insecurity, medical complexity, home environment, behavioral issues, financial insecurity, parenting confidence, parental mental health, social support, and unmet medical needs. CONCLUSIONS: PSRI was reduced from 86 to 16 items with high internal consistency and reliability. PSRI demonstrates adequate validity supporting practitioners to screen families about their psychosocial risk.


Asunto(s)
Psicometría , Humanos , Preescolar , Niño , Femenino , Masculino , Lactante , Adolescente , Reproducibilidad de los Resultados , Análisis Factorial , Medición de Riesgo , Recién Nacido , Encuestas y Cuestionarios/normas , Padres/psicología
11.
Biosensors (Basel) ; 14(5)2024 May 16.
Artículo en Inglés | MEDLINE | ID: mdl-38785725

RESUMEN

Peripheral artery disease (PAD) is a common circulatory disorder characterized by the accumulation of fats, cholesterol, and other substances in the arteries that restrict blood flow to the extremities, especially the legs. The ankle brachial index (ABI) is a highly reliable and valid non-invasive test for diagnosing PAD. However, the traditional method has limitations. These include the time required, the need for Doppler equipment, the training of clinical staff, and patient discomfort. PWV refers to the speed at which an arterial pressure wave propagates along the arteries, and this speed is conditioned by arterial elasticity and stiffness. To address these limitations, we have developed a system that uses electrocardiogram (ECG) and photoplethysmography (PPG) signals to calculate pulse wave velocity (PWV). We propose determining the ABI based on this calculation. Validation was performed on 22 diabetic patients, and the results demonstrate the accuracy of the system, maintaining a margin of ±0.1 compared with the traditional method. This confirms the correlation between PWV and ABI and positions this technique as a promising alternative to overcome some of the limitations of the conventional method.


Asunto(s)
Índice Tobillo Braquial , Fotopletismografía , Análisis de la Onda del Pulso , Humanos , Enfermedad Arterial Periférica/diagnóstico , Enfermedad Arterial Periférica/fisiopatología , Electrocardiografía , Masculino , Femenino , Persona de Mediana Edad
12.
J Alzheimers Dis ; 99(3): 829-841, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38759003

RESUMEN

This narrative explores the impact of deinstitutionalization policies on the quality of life and care outcomes for individuals with Alzheimer's disease and related dementias. We offer a historical perspective on these policies, their implications on dementia care, and the barriers to deinstitutionalization. The potential benefits of deinstitutionalization, such as improved quality of life and access to community-based support and services, are highlighted. Challenges and controversies surrounding safety, caregiver burden, and resource allocation are also examined. Ethical considerations related to the autonomy and decision-making capacity of people living with dementia are discussed. We present best practices and innovative models in dementia care that balance deinstitutionalization with appropriate care. We further put forth recommendations for future research and policy development in dementia care and deinstitutionalization, emphasizing the need for a balanced approach that respects the autonomy and preferences of people living with dementia while ensuring their safety and well-being.


Asunto(s)
Desinstitucionalización , Demencia , Humanos , Demencia/terapia , Demencia/psicología , Calidad de Vida , Cuidadores/psicología , Autonomía Personal
13.
Nat Methods ; 21(6): 1044-1052, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38720062

RESUMEN

The spatial distribution of cell surface proteins governs vital processes of the immune system such as intercellular communication and mobility. However, fluorescence microscopy has limited scalability in the multiplexing and throughput needed to drive spatial proteomics discoveries at subcellular level. We present Molecular Pixelation (MPX), an optics-free, DNA sequence-based method for spatial proteomics of single cells using antibody-oligonucleotide conjugates (AOCs) and DNA-based, nanometer-sized molecular pixels. The relative locations of AOCs are inferred by sequentially associating them into local neighborhoods using the sequence-unique DNA pixels, forming >1,000 spatially connected zones per cell in 3D. For each single cell, DNA-sequencing reads are computationally arranged into spatial proteomics networks for 76 proteins. By studying immune cell dynamics using spatial statistics on graph representations of the data, we identify known and new patterns of spatial organization of proteins on chemokine-stimulated T cells, highlighting the potential of MPX in defining cell states by the spatial arrangement of proteins.


Asunto(s)
Proteómica , Análisis de la Célula Individual , Proteómica/métodos , Análisis de la Célula Individual/métodos , Humanos , Linfocitos T/metabolismo , Análisis de Secuencia de ADN/métodos
14.
J Med Microbiol ; 73(4)2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38591530

RESUMEN

Sexually transmitted infections (STI) are a public health problem. Real-time PCR assays are the most sensitive test for screening and diagnosis of these infections. The aim of this study was to evaluate a new CT/NG/TV/MG Real-Time PCR (RT-PCR) kit (Vircell) for the detection of Chamydia trachomatis, Neisseria gonorrhoeae, Mycoplasma genitalium and Trichomonas vaginalis for the diagnosis of sexual transmitted infections using the Allplex STI Essential Assay (Seegene) as the reference's method. A total of 497 samples from different anatomical sites (endocervical, urethral, rectal, pharyngeal and urine) were analysed from October 2022 to February 2023. A total of 108 (21.73 %) and 106 (21.33 %) positive samples were found for any of the assays used. The most commonly detected pathogen was N. gonorrhoeae (52 samples; 10.46 %), and the least commonly detected was T. vaginalis (three samples; 0.60 %). The anatomical site with the highest prevalence of micro-organisms was a non-urogenital site, the pharynx (26 positive samples; 5.23 %). Using the Allplex STI Essential Assay (Seegene) as the reference method, the diagnosis performance showed that the average specificity of CT/NG/TV/MG RT-PCR Kit (Vircell) was 99.84 % and the sensitivity was 99.53 %. The overall concordance was k=0.98 (CI95 %; 0.96-1). In conclusion, the CT/NG/TV/MG RT-PCR Kit (Vircell) assay shows a good sensitivity and specificity and constitutes a promising and additional alternative to routine procedures for distinct types of clinical specimen in diagnosis STI.


Asunto(s)
Infecciones por Chlamydia , Gonorrea , Infecciones por Mycoplasma , Mycoplasma genitalium , Enfermedades de Transmisión Sexual , Trichomonas vaginalis , Humanos , Reacción en Cadena en Tiempo Real de la Polimerasa , Chlamydia trachomatis/genética , Enfermedades de Transmisión Sexual/diagnóstico , Enfermedades de Transmisión Sexual/epidemiología , Trichomonas vaginalis/genética , Neisseria gonorrhoeae/genética , Mycoplasma genitalium/genética , Infecciones por Mycoplasma/diagnóstico , Infecciones por Mycoplasma/epidemiología , Tomografía Computarizada por Rayos X , Infecciones por Chlamydia/diagnóstico , Gonorrea/diagnóstico , Gonorrea/epidemiología
15.
J Clin Oncol ; 42(18): 2174-2185, 2024 Jun 20.
Artículo en Inglés | MEDLINE | ID: mdl-38603646

RESUMEN

PURPOSE: Measurable residual disease (MRD) by using flow cytometry after induction therapy is strongly prognostic in pediatric AML, and hematopoietic stem-cell transplant (hSCT) may counteract a poor response. We designed a phase III study with intensified response-guided induction and MRD-based risk stratification and treated poor induction response with hSCT. The efficacy of liposomal daunorubicin (DNX) in induction was compared with mitoxantrone. METHODS: The study planned to randomly assign 300 patients, but the production of DNX ceased in 2017. One hundred ninety-four patients were randomly assigned to mitoxantrone or experimental DNX in induction 1. Ninety-three non-randomly assigned patients served as an observation cohort. Primary end point was fraction of patients with MRD <0.1% on day 22 after induction 1. Patients with MRD ≥15% after induction 1 or ≥0.1% after induction 2 or FLT3-ITD with NPM1 wildtype were stratified to high-risk therapy, including hSCT. RESULTS: Outcome for all 287 children was good with 5-year event-free survival (EFS5y) 66.7% (CI, 61.4 to 72.4) and 5-year overall survival (OS5y) 79.6% (CI, 75.0 to 84.4). Overall, 75% were stratified to standard-risk and 19% to high-risk. There was no difference in the proportion of patients with MRD <0.1% on day 22 after induction 1 (34% mitoxantrone, etoposide, araC [MEC], 30% DNX, P = .65), but the proportion increased to 61% for MEC versus 47% for DNX (P = .061) at the last evaluation before induction 2. EFS5y was significantly lower, 56.6% (CI, 46.7 to 66.5) versus 71.9% (CI, 63.0 to 80.9), and cumulative incidence of relapse (CIR) was higher, 35.1% (CI, 25.7 to 44.7) versus 18.8% (CI, 11.6 to 27.2) for DNX. The inferior outcome for DNX was only in standard-risk patients with EFS5y 55.3% (CI, 45.1 to 67.7) versus 79.9% (CI, 71.1 to 89.9), CIR 39.5% (CI, 28.4 to 50.3) versus 18.7% (CI, 10.5 to 28.7), and OS5y 76.2% (CI, 67.2 to 86.4) versus 88.6% (CI, 81.4 to 96.3). As-treated analyses, including the observation cohort, supported these results. For all high-risk patients, 85% received hSCT, and EFS5y was 77.7 (CI, 67.3 to 89.7) and OS5y was 83.0 (CI, 73.5 to 93.8). CONCLUSION: The intensification of induction therapy with risk stratification on the basis of response to induction and hSCT for high-risk patients led to improved outcomes. Mitoxantrone had a superior anti-leukemic effect than liposomal daunorubicin.


Asunto(s)
Daunorrubicina , Citometría de Flujo , Leucemia Mieloide Aguda , Liposomas , Mitoxantrona , Neoplasia Residual , Nucleofosmina , Humanos , Mitoxantrona/administración & dosificación , Daunorrubicina/administración & dosificación , Daunorrubicina/uso terapéutico , Niño , Leucemia Mieloide Aguda/tratamiento farmacológico , Masculino , Preescolar , Femenino , Lactante , Adolescente , Medición de Riesgo , Trasplante de Células Madre Hematopoyéticas/métodos , Quimioterapia de Inducción/métodos , Antibióticos Antineoplásicos/administración & dosificación , Antibióticos Antineoplásicos/uso terapéutico
16.
Blood Adv ; 8(12): 3200-3213, 2024 Jun 25.
Artículo en Inglés | MEDLINE | ID: mdl-38621200

RESUMEN

ABSTRACT: A comprehensive international consensus on the cytogenetic risk-group stratification of KMT2A-rearranged (KMT2A-r) pediatric acute myeloid leukemia (AML) is lacking. This retrospective (2005-2016) International Berlin-Frankfurt-Münster Study Group study on 1256 children with KMT2A-r AML aims to validate the prognostic value of established recurring KMT2A fusions and additional cytogenetic aberrations (ACAs) and to define additional, recurring KMT2A fusions and ACAs, evaluating their prognostic relevance. Compared with our previous study, 3 additional, recurring KMT2A-r groups were defined: Xq24/KMT2A::SEPT6, 1p32/KMT2A::EPS15, and 17q12/t(11;17)(q23;q12). Across 13 KMT2A-r groups, 5-year event-free survival probabilities varied significantly (21.8%-76.2%; P < .01). ACAs occurred in 46.8% of 1200 patients with complete karyotypes, correlating with inferior overall survival (56.8% vs 67.9%; P < .01). Multivariable analyses confirmed independent associations of 4q21/KMT2A::AFF1, 6q27/KMT2A::AFDN, 10p12/KMT2A::MLLT10, 10p11.2/KMT2A::ABI1, and 19p13.3/KMT2A::MLLT1 with adverse outcomes, but not those of 1q21/KMT2A::MLLT11 and trisomy 19 with favorable and adverse outcomes, respectively. Newly identified ACAs with independent adverse prognoses were monosomy 10, trisomies 1, 6, 16, and X, add(12p), and del(9q). Among patients with 9p22/KMT2A::MLLT3, the independent association of French-American-British-type M5 with favorable outcomes was confirmed, and those of trisomy 6 and measurable residual disease at end of induction with adverse outcomes were identified. We provide evidence to incorporate 5 adverse-risk KMT2A fusions into the cytogenetic risk-group stratification of KMT2A-r pediatric AML, to revise the favorable-risk classification of 1q21/KMT2A::MLLT11 to intermediate risk, and to refine the risk-stratification of 9p22/KMT2A::MLLT3 AML. Future studies should validate the associations between the newly identified ACAs and outcomes and unravel the underlying biological pathogenesis of KMT2A fusions and ACAs.


Asunto(s)
N-Metiltransferasa de Histona-Lisina , Leucemia Mieloide Aguda , Proteína de la Leucemia Mieloide-Linfoide , Humanos , Proteína de la Leucemia Mieloide-Linfoide/genética , Niño , N-Metiltransferasa de Histona-Lisina/genética , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/mortalidad , Masculino , Femenino , Preescolar , Adolescente , Lactante , Pronóstico , Aberraciones Cromosómicas , Reordenamiento Génico , Estudios Retrospectivos
17.
Transplant Cell Ther ; 30(6): 601.e1-601.e13, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38521410

RESUMEN

Transplantation-associated thrombotic microangiopathy (TA-TMA) is associated with high morbidity and mortality. Although survival has improved significantly with the introduction of eculizumab, the need for improvement remains, especially in high-risk patients. This study aimed to describe the results obtained with eculizumab in a pediatric cohort with the attempt to define which risk factors could determine the response to treatment. We designed a national multicenter retrospective study of children treated with eculizumab for high-risk TA-TMA. The study cohort comprised 29 patients who had undergone a first (n = 28) or second (n = 1) allogeneic hematopoietic stem cell transplantation (HSCT) for malignant (n = 17) or nonmalignant (n = 12) disease. The median time from HSCT to TA-TMA diagnosis was 154 days (interquartile range [IQR], 103 to 263 days). Eleven patients (38%) who were initially diagnosed with low- to intermediate-risk TA-TMA progressed to high-risk TA-TMA (hrTA-TMA), within a median time of 4 days (IQR, 1 to 33 days). SC5b-9 was increased in 90% of 20 patients in whom it was measured. Renal (n = 12), pulmonary (n = 1), and intestinal (n = 1) biopsy confirmed the diagnosis in 12 of 14 patients (85%). Seventeen patients (58%) had extrarenal involvement with serositis (n = 13; 44,8%), pulmonary (n = 12; 41,4%), gastrointestinal (n = 8; 27.6%), cardiovascular (n = 7; 24.1%), or central nervous system (CNS) (n = 2; 6.9%) involvement. The median time from hrTA-TMA diagnosis to the initiation of eculizumab was 7 days (IQR, 1 to 8 days). Overall, 19 patients (65.5%) responded to eculizumab, of whom 17 (58.6%) achieved a complete response and 2 (6.9%) achieved a partial response. The remaining 10 patients (34.5%) did not show any of response. The overall response rate to eculizumab for TA-TMA was 27.59% (95% confidence interval [CI], 14.87% to 47.66%) at 1 month, 55.17% (95% CI, 38.43% to 73.48%) at 3 months, and 62.07% (95% CI, 45.10% to 79.13%) at 6 months after eculizumab initiation. In multivariate analysis, the pulmonary involvement decreased the probability of response (hazard ratio [HR], .18; P = .0298). The 1-year overall survival (OS) was 55.2% (95% CI, 35.6% to 71.0%) for the whole cohort and 83.3% (95% CI, 56.7% to 94.3%) for patients who responded to eculizumab. Pulmonary involvement (HR, 14.93; P = .0043) and CNS involvement (HR, 8.63; P = .0497) were associated with a statistically significant decrease in survival. We found that patients diagnosed with hrTA-TMA with pulmonary involvement had a poor response to eculizumab, and that patients with pulmonary and CNS involvement had significantly decreased survival. Given these results, we hypothesize that providing eculizumab therapy at an early stage of the disease before organ damage is established might significantly improve the response and, consequently, survival.


Asunto(s)
Anticuerpos Monoclonales Humanizados , Trasplante de Células Madre Hematopoyéticas , Microangiopatías Trombóticas , Humanos , Anticuerpos Monoclonales Humanizados/uso terapéutico , Estudios Retrospectivos , Microangiopatías Trombóticas/tratamiento farmacológico , Microangiopatías Trombóticas/etiología , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Masculino , Femenino , Niño , Factores de Riesgo , Preescolar , Adolescente , Resultado del Tratamiento , Lactante , España/epidemiología , Inactivadores del Complemento/uso terapéutico
18.
Biosensors (Basel) ; 14(3)2024 Mar 18.
Artículo en Inglés | MEDLINE | ID: mdl-38534256

RESUMEN

A proof-of-concept of a microwave imaging system for the fast detection of abdominal aortic aneurysms is shown. This experimental technology seeks to overcome the factors hampering the fast screening for these aneurysms with the usual equipment, such as high cost, long-time operation or hazardous exposure to chemical substances. The hardware system is composed of 16 twin antennas mastered by a microcontroller through a switching network, which connects the antennas to the measurement instrument for sequential measurement. The software system is run by a computer, mastering the whole system, automatizing the measurement process and running the signal processing and medical image generation algorithms. Two image generation algorithms are tested: Delay-and-Sum (DAS) and Improved Delay-and-Sum (IDAS). Own-modified versions of these algorithms adapted to the requirements of our system are proposed. The system is carefully calibrated and fine-tuned with known objects placed at known distances. An experimental proof-of-concept is shown with a human torso phantom, including an aorta phantom and an aneurysm phantom placed in different positions. The results show good imaging capabilities with the potential for detecting and locating possible abdominal aortic aneurysms and reporting acceptable errors.


Asunto(s)
Aneurisma de la Aorta Abdominal , Imágenes de Microonda , Humanos , Aneurisma de la Aorta Abdominal/diagnóstico , Programas Informáticos , Algoritmos , Fantasmas de Imagen
19.
Front Immunol ; 15: 1307932, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38370416

RESUMEN

Introduction: Hematopoietic stem cell transplantation (HCT) can cure chronic granulomatous disease (CGD). However, transplant-associated morbidity or mortality may occur, and it is still controversial which patients benefit from this procedure. The aim of this retrospective study was to evaluate the outcome of pediatric patients who received HCT in one of the Spanish pediatric transplant units. Results: Thirty children with a median age of 6.9 years (range 0.6-12.7) were evaluated: 8 patients received a transplant from a sibling donor (MSD), 21 received a transplant from an unrelated donor (UD), and 1 received a haploidentical transplant. The majority of the patients received reduced-intensity conditioning regimens based on either busulfan plus fludarabine or treosulfan. Relevant post-HCT complications were as follows: i) graft failure (GF), with a global incidence of 28.26% (CI: 15.15-48.88), 11.1% in patients with MSD (1.64-56.70) and 37.08% in unrelated donors (19.33-63.17); and ii) chronic graft-versus-host disease (GVHD), with an incidence of 20.5% (8.9-43.2), 11.1% in patients with MSD (1.64-56.70) and 26.7% in unrelated donors (10.42-58.44). Post-HCT infections were usually manageable, but two episodes of pulmonary aspergillosis were diagnosed in the context of graft rejection. The 2-year OS was 77.3% (55.92-89.23). There were no statistically significant differences among donor types. Discussion: HCT in patients with CGD is a complex procedure with significant morbidity and mortality, especially in patients who receive grafts from unrelated donors. These factors need to be considered in the decision-making process and when discussing conditioning and GVHD prophylaxis.


Asunto(s)
Enfermedad Injerto contra Huésped , Enfermedad Granulomatosa Crónica , Trasplante de Células Madre Hematopoyéticas , Humanos , Niño , Lactante , Preescolar , Enfermedad Granulomatosa Crónica/complicaciones , Estudios Retrospectivos , Enfermedad Injerto contra Huésped/prevención & control , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Trasplante de Células Madre Hematopoyéticas/métodos , Donante no Emparentado
20.
Bioengineering (Basel) ; 11(2)2024 Feb 02.
Artículo en Inglés | MEDLINE | ID: mdl-38391638

RESUMEN

INTRODUCTION: Rehabilitation can improve outcomes after reverse shoulder arthroplasty (RSA). However, low adherence to rehabilitation and compliance rates are some of the main barriers. To address this public health issue, the goal of this research was to pilot test and evaluate the effectiveness of a chatbot to promote adherence to home rehabilitation in patients undergoing RSA. METHODS: A randomized pilot trial including patients undergoing RSA and early postoperative rehabilitation was performed. The control group received standard home rehabilitation; the experimental group received the same intervention supervised with a chatbot, with automated interactions that included messages to inform, motivate, and remember the days and exercises for 12 weeks. Compliance with rehabilitation and clinical measures of shoulder function, pain, and quality of life were assessed. RESULTS: 31 patients (17 experimental) with an average age of 70.4 (3.6) completed the intervention. Compliance was higher in the experimental group (77% vs. 65%; OR95% = 2.4 (0.5 to 11.4)). Statistically significant between-group differences with a CI of 95% were found in the QuickDASH questionnaire and self-reported quality of life. No differences were found in the rest of the measures. CONCLUSIONS: This pilot study suggests that the chatbot tool can be useful in promoting compliance with early postoperative home rehabilitation in patients undergoing RSA. Future randomized trials with adequate power are warranted to determine the clinical impact of the proposal.

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