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1.
medRxiv ; 2024 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-38558992

RESUMO

Ancestrally diverse and admixed populations, including the Hispanic/Latino/a/x/e community, are underrepresented in cancer genetic and genomic studies. Leveraging the Latino Colorectal Cancer Consortium, we analyzed whole exome sequencing data on tumor/normal pairs from 718 individuals with colorectal cancer (128 Latino, 469 non-Latino) to map somatic mutational features by ethnicity and genetic ancestry. Global proportions of African, East Asian, European, and Native American ancestries were estimated using ADMIXTURE. Associations between global genetic ancestry and somatic mutational features across genes were examined using logistic regression. TP53 , APC , and KRAS were the most recurrently mutated genes. Compared to non-Latino individuals, tumors from Latino individuals had fewer KRAS (OR=0.64, 95%CI=0.41-0.97, p=0.037) and PIK3CA mutations (OR=0.55, 95%CI=0.31-0.98, p=0.043). Genetic ancestry was associated with presence of somatic mutations in 39 genes (FDR-adjusted LRT p<0.05). Among these genes, a 10% increase in African ancestry was associated with significantly higher odds of mutation in KNCN (OR=1.34, 95%CI=1.09-1.66, p=5.74×10 -3 ) and TMEM184B (OR=1.53, 95%CI=1.10-2.12, p=0.011). Among RMGs, we found evidence of association between genetic ancestry and mutation status in CDC27 (LRT p=0.0084) and between SMAD2 mutation status and AFR ancestry (OR=1.14, 95%CI=1.00-1.30, p=0.046). Ancestry was not associated with tumor mutational burden. Individuals with above-average Native American ancestry had a lower frequency of microsatellite instable (MSI-H) vs microsatellite stable tumors (OR=0.45, 95%CI=0.21-0.99, p=0.048). Our findings provide new knowledge about the relationship between ancestral haplotypes and somatic mutational profiles that may be useful in developing precision medicine approaches and provide additional insight into genomic contributions to cancer disparities. Significance: Our data in ancestrally diverse populations adds essential information to characterize mutational features in the colorectal cancer genome. These results will help enhance equity in the development of precision medicine strategies.

2.
Front Public Health ; 12: 1335311, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38577282

RESUMO

Introduction: The use of normative values and/or standards of functional fitness in adults is relevant to overall health and well-being. The objectives of the study were: to identify the physical tests of the senior fitness test (SFT) that have been applied since its proposal and to describe the proposed percentiles according to age, sex and country. Methods: A systematic review study was conducted in the Pubmed and Scopus databases. As eligibility criteria, we considered the period from 1999 to 2022 that presented data on SFT test used in the population over 60 years of age and that described normative values through percentiles. MeSH were used as: (1) Physical fitness, Exercise test, Senior Fitness Test, Functional fitness, Cardiorespiratory fitness, (2) older adult, aged, (3) Reference standards, standards, standards of care. Boolean operators "AND" and "OR" were included. Data extracted from the selected studies included: year of publication, country, sample age, sample size, sample sex, fitness component. Results and discussion: Seven studies were identified in five countries (03 in China, 01 in Poland, 01 in Portugal, 01 in Spain and 01 in United States). The age range ranged from 60 to 103 years. The studies were conducted in both sexes. The study with the smallest sample size was by Chung et al. (China) with 944 participants and the largest number of participants was the study by Rikli and Jones in the United States with 7,183 participants. In general, no study was able to complete 100% (8 components) of the tests proposed in the SFT. Normative values were presented through percentile distribution (p10, p50 and p90) organized by age ranges. Males presented better performance in FPF tests than females in all tests. Since the first publication of the SFT until 2022, seven articles have been published in countries such as United States, China (three regional studies), Poland, Portugal and Spain. No study has published the complete battery with its eight components. The percentiles of functional fitness reflect decline with advancing age. Systematic review registration: PROSPERO (CRD42023441294: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42023441294).


Assuntos
Aptidão Cardiorrespiratória , Aptidão Física , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Exercício Físico , Teste de Esforço/métodos
3.
Food Chem X ; 22: 101347, 2024 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-38623503

RESUMO

Increased prevalence of diabetes prompts the development of foods with reduced starch digestibility. This study analyzed the impact of adding soluble dietary fiber (inulin-IN; polydextrose-PD) to baked gluten-starch matrices (7.5-13%) on microstructure formation and in vitro starch digestibility. IN and PD enhanced water-holding capacity, the hardness of baked matrices, and lowered water activity in the formulated matrices, potentially explaining the reduced starch gelatinization degree as IN or PD concentration increased. A maximum gelatinization decrease (26%) occurred in formulations with 13% IN. Micro-CT analysis showed a reduction in total and open porosity, which, along with the lower gelatinization degree, may account for the reduced in vitro starch digestibility. Samples with 13% IN exhibited a significantly lower rapidly available glucose fraction (8.56 g/100 g) and higher unavailable glucose fraction (87.76 g/100 g) compared to the control (34.85 g/100 g and 47.59 g/100 g, respectively). These findings suggest the potential for developing healthier, starch-rich baked foods with a reduced glycemic impact.

5.
Sensors (Basel) ; 24(7)2024 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-38610447

RESUMO

In Portugal, more than 98% of domestic cooking oil is disposed of improperly every day. This avoids recycling/reconverting into another energy. Is also may become a potential harmful contaminant of soil and water. Driven by the utility of recycled cooking oil, and leveraging the exponential growth of ubiquitous computing approaches, we propose an IoT smart solution for domestic used cooking oil (UCO) collection bins. We call this approach SWAN, which stands for Smart Waste Accumulation Network. It is deployed and evaluated in Portugal. It consists of a countrywide network of collection bin units, available in public areas. Two metrics are considered to evaluate the system's success: (i) user engagement, and (ii) used cooking oil collection efficiency. The presented system should (i) perform under scenarios of temporary communication network failures, and (ii) be scalable to accommodate an ever-growing number of installed collection units. Thus, we choose a disruptive approach from the traditional cloud computing paradigm. It relies on edge node infrastructure to process, store, and act upon the locally collected data. The communication appears as a delay-tolerant task, i.e., an edge computing solution. We conduct a comparative analysis revealing the benefits of the edge computing enabled collection bin vs. a cloud computing solution. The studied period considers four years of collected data. An exponential increase in the amount of used cooking oil collected is identified, with the developed solution being responsible for surpassing the national collection totals of previous years. During the same period, we also improved the collection process as we were able to more accurately estimate the optimal collection and system's maintenance intervals.

7.
ESC Heart Fail ; 2024 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-38605602

RESUMO

AIMS: Drug-refractory electrical storm (ES) is a life-threatening medical emergency. We describe the use of venoarterial extracorporeal membrane oxygenation (VA-ECMO) in drug-refractory ES without a reversible trigger, for which specific guideline recommendations are still lacking. METHODS AND RESULTS: Retrospective observational study in four Iberian centres on the indications, treatment, complications, and outcome of drug-refractory ES not associated with acute coronary syndromes, decompensated heart failure, drug toxicity, electrolyte disturbances, endocrine emergencies, concomitant acute illness with fever, or poor compliance with anti-arrhythmic drugs, requiring VA-ECMO for circulatory support. Thirty-four (6%) out of 552 patients with VA-ECMO for cardiogenic shock were included [71% men; 57 (44-62) years], 65% underwent cardiopulmonary resuscitation before VA-ECMO implantation, and 26% during cannulation. Left ventricular unloading during VA-ECMO was used in 8 (24%) patients: 3 (9%) with intraaortic balloon pump, 3 (9%) with LV vent, and 2 (6%) with Impella. Thirty (88%) had structural heart disease and 8 (24%) had an implantable cardioverter-defibrillator. The drug-refractory ES was mostly due to monomorphic ventricular tachycardia (VT) and ventricular fibrillation (VF) (59%), isolated monomorphic VT (26%), polymorphic VT (9%), or VF (6%). Thirty-one (91%) required deep sedation, 44% overdrive pacing, 36% catheter ablation, and 26% acute autonomic modulation. The main complications were nosocomial infection (47%), bleeding (24%), and limb ischaemia (21%). Eighteen (53%) were weaned from VA-ECMO, and 29% had heart transplantation. Twenty-seven (79%) survived to hospital discharge (48 (33-82) days). Non-survivors were older [62 (58-67) vs. 54 (43-58); P < 0.01] and had a higher first rhythm disorder-to-ECMO interval [0 (0-2) vs. 2 (1-11) days; P = 0.02]. Seven (20%) had rehospitalization during follow-up [29 (12-48) months], with ES recurrence in 6%. CONCLUSIONS: VA-ECMO bridged drug-refractory ES without a reversible trigger with a high success rate. This required prolonged hospital stays and coordination between the ECMO centre, the electrophysiology laboratory, and the heart transplant programme.

8.
J Stud Alcohol Drugs ; 2024 Apr 22.
Artigo em Inglês | MEDLINE | ID: mdl-38647099

RESUMO

OBJECTIVE: The aim of this work is to assess how drivers adapt their driving speed as a self-regulation mechanism when driving under the influence of alcohol (DUIA), and the influence of alcohol consumption, visual performance, road complexity, and personal traits. METHOD: Thirty one volunteers took part in the study. All of them underwent three experimental sessions: Baseline (no alcohol), Alcohol 1 (low-moderate dose), and Alcohol 2 (moderate-high dose). Vision was tested by means of contrast sensitivity and retinal straylight. Driving performance was assessed using a driving simulator. The difference between the driving speed and the speed limit was calculated in 10 road scenarios of different complexity. RESULTS: Drivers adapted their driving speed less (i.e., drove faster) in Alcohol 1 condition compared to Alcohol 2 (p = 0.007). This indicate that participants felt more confident under the influence of a low-moderate dose of alcohol. Participants with better contrast sensitivity drove faster (p = 0.021). The complexity of the road and other factors such as driving experience, gender, or DUIA frequency, also influenced speed choice. CONCLUSIONS: Drivers under the influence of a low-moderate dose of alcohol seem to be less aware of the risk. Contrast sensitivity is a good predictor of the speed choice when DUIA. A better understanding of drivers' behavior under the influence of substance use may be useful to adjust and improve the traffic laws and driving regulations.

9.
J Neuropsychiatry Clin Neurosci ; : appineuropsych20230114, 2024 Apr 23.
Artigo em Inglês | MEDLINE | ID: mdl-38650464

RESUMO

OBJECTIVE: Emotional and behavioral dyscontrol (EBD), a neuropsychiatric complication of stroke, leads to patient and caregiver distress and challenges to rehabilitation. Studies of neuropsychiatric sequelae in stroke are heavily weighted toward ischemic stroke. This study was designed to compare risk of EBD following intracerebral hemorrhage (ICH) and subarachnoid hemorrhage (SAH) and to identify risk factors for EBD following hemorrhagic stroke. METHODS: The authors conducted a prospective cohort study of patients hospitalized for nontraumatic hemorrhagic stroke between 2015 and 2021. Patients or legally authorized representatives completed the Quality of Life in Neurological Disorders (Neuro-QOL) EBD short-form inventory 3 months after hospitalization. Univariable and multivariable analyses identified risk factors for EBD after hemorrhagic stroke. RESULTS: The incidence of EBD was 21% (N=15 of 72 patients) at 3 months after hemorrhagic stroke. Patients with ICH were more likely to develop EBD; 93% of patients with EBD (N=14 of 15) had ICH compared with 56% of patients without EBD (N=32 of 57). The median Glasgow Coma Scale (GCS) score at hospital admission was lower among patients who developed EBD (13 vs. 15 among those without EBD). Similarly, admission scores on the National Institutes of Health Stroke Scale (NIHSS) and the Acute Physiology and Chronic Health Evaluation II (APACHE II) were higher among patients with EBD (median NIHSS score: 7 vs. 2; median APACHE II score: 17 vs. 11). Multivariable analyses identified hemorrhage type (ICH) and poor admission GCS score as predictors of EBD 3 months after hemorrhagic stroke. CONCLUSIONS: Patients with ICH and a low GCS score at admission are at increased risk of developing EBD 3 months after hemorrhagic stroke and may benefit from early intervention.

10.
Angiol. (Barcelona) ; 76(2): 67-82, Mar-Abr. 2024. ilus, tab, graf
Artigo em Espanhol | IBECS | ID: ibc-232380

RESUMO

Introducción: una estrategia para reducir la mortalidad de los aneurismas de la aorta abdominal es conocer su existencia en fase asintomática. Así podremos clasificar los pacientes, en función del tamaño del aneurisma, en candidatos a cirugía programada o a seguimiento periódico. Objetivos: conocer la eficacia, la seguridad y la aceptabilidad de un programa piloto de cribado de aneurismas de la aorta abdominal mediante ecografía abdominal realizada en una población de riesgo. Material y métodos: programa organizado por la Real Academia de Medicina y el Instituto de Investigación Biomédica y ejecutado por el Servicio de Angiología, Cirugía Vascular y Endovascular del Hospital Universitario de Salamanca. El cribado se realizó hace un año, en dos carpas situadas en una céntrica plaza de Salamanca. El análisis incluyó a 295 varones ≥ 65 años, residentes en Salamanca capital, de forma libre y gratuita. Se excluyeron aquellos con aneurisma aórtico conocido. Se realizaron: 1) registro de datos; 2) eco Doppler color por especialistas en angiología y cirugía vascular, y 3) encuesta de satisfacción. Todos firmaron un consentimiento informado. Resultados: el diámetro transversal medio de la aorta abdominal fue de 1,81 ± 0,36 cm. Se detectaron 2 aneurismas (diámetro mayor: ≥ 3,0 cm; 3,1 y 4,7 cm) y 3 ectasias aórticas (diámetro ≥ 2,5 y < 3,0 cm). El 98,3 % (290 varones) no presentó ectasia o aneurisma (aorta < 2,5 cm). Tres individuos (obesidad o aire intrabdominal) fueron reevaluados posteriormente. Se analizaron los factores de riesgo y los antecedentes de la población cribada. 180 participantes del cribado (61,0 %) rellenaron anónimamente una encuesta de satisfacción, con resultados muy positivos. Conclusión: si bien el rendimiento de detección fue bajo, la estrategia y el método empleado fueron satisfactorios para el equipo explorador y la población explorada. Este estudio piloto nos permitirá planificar y organizar un segundo cribado más amplio y de nuevos objetivos.(AU)


Introduction: a strategy to reduce the mortality of abdominal aortic aneurysms is to know their existence in theasymptomatic phase. This way we can classify patients, mainly according to the size of the aneurysm, into candi-dates for scheduled elective surgery or periodic follow-up.Objectives: to determine the effectiveness, safety, and acceptability of a pilot screening program for abdominalaortic aneurysms, using abdominal ultrasound, performed in a risk population.Material and methods: program organized by the Royal Academy of Medicine and the Biomedical ResearchInstitute, and carried out by the Angiology and Vascular Surgery service of the University Hospital of Salamanca.The screening was carried out a year ago, in two tents located in a central square in Salamanca. The study included295 men over 65 years of age, residents of Salamanca capital, free of charge. Those with known aortic aneurysmwere excluded. The following were carried out: 1) data recording; 2) color echo-Doppler, by specialists in angiologyand vascular surgery; and 3) satisfaction survey. All signed an informed consent.Results: the mean transverse diameter of the abdominal aorta was 1.81 ± 0.36 cm. Two aneurysms were detect-ed (largest diameter ≥ 3.0 cm; 3.1 and 4.7 cm), and 3 aortic ectasias (diameter ≥ 2.5 and < 3.0 cm). The 98.3 %(290 men) did not present ectasia or aneurysm (aorta < 2.5 cm). Three individuals (obesity or intra-abdominal air) weresubsequently re-evaluated. The risk factors and background of the screened population were analyzed. A satisfactionsurvey was completed freely and anonymously by 180 screening participants (61.0 %) with very positive results.Conclusion: although the detection performance was low, the strategy and method used were satisfactory for theexploring team and the population explored. The present pilot study will allow us to plan and organize a second,broader screening with new objectives.(AU)


Assuntos
Humanos , Masculino , Feminino , Aneurisma da Aorta Abdominal , Programas de Rastreamento , Aorta Abdominal/cirurgia , Sistema Cardiovascular , Espanha , Procedimentos Cirúrgicos Cardiovasculares , Projetos Piloto
11.
Clin Transl Oncol ; 2024 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-38512450

RESUMO

OBJECTIVES: The S-REAL study aimed to assess the effectiveness of durvalumab as consolidation therapy after definitive chemoradiotherapy (CRT) in a real-world cohort of patients with locally advanced, unresectable stage III non-small cell lung cancer (LA-NSCLC) included in a Spanish early access program (EAP). METHODS: In this multicentre, observational, retrospective study we analysed data from patients treated in 39 Spanish hospitals, who started intravenous durvalumab (10 mg/kg every 2 weeks) between September 2017 and December 2018. The primary endpoint was progression-free survival (PFS). Secondary endpoints included patient characterization and adverse events of special interest (AESI). RESULTS: A total of 244 patients were followed up for a median of 21.9 months [range 1.2-34.7]. Median duration of durvalumab was 45.5 weeks (11.4 months) [0-145]. Median PFS was 16.7 months (95% CI 12.2-25). No remarkable differences in PFS were observed between patients with programmed cell death-ligand 1 (PD-L1) expression ≥ 1% or < 1% (16.7 versus 15.6 months, respectively). However, PFS was higher in patients who had received prior concurrent CRT (cCRT) versus sequential CRT (sCRT) (20.6 versus 9.4 months). AESIs leading to durvalumab discontinuation were registered in 11.1% of patients. CONCLUSIONS: These results are in line with prior published evidence and confirm the benefits of durvalumab in the treatment of LA-NSCLC patients in a real-world setting. We also observed a lower incidence of important treatment-associated toxicities, such as pneumonitis, compared with the pivotal phase III PACIFIC clinical study.

12.
Curr Urol ; 18(1): 55-60, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38505163

RESUMO

Background: Emphysematous pyelonephritis (EPN) is a necrotizing infection of the kidney and the surrounding tissues associated with considerable mortality. We aimed to formulate a score that classifies the risk of mortality in patients with EPN at hospital admission. Materials and methods: Patients diagnosed with EPN between 2013 and 2020 were retrospectively included. Data from 15 centers (70%) were used to develop the scoring system, and data from 7 centers (30%) were used to validate it. Univariable and multivariable logistic regression analyses were performed to identify independent factors related to mortality. Receiver operating characteristic curve analysis was performed to construct the scoring system and calculate the risk of mortality. A standardized regression coefficient was used to quantify the discriminating power of each factor to convert the individual coefficients into points. The area under the curve was used to quantify the scoring system performance. An 8-point scoring system for the mortality risk was created (range, 0-7). Results: In total, 570 patients were included (400 in the test group and 170 in the validation group). Independent predictors of mortality in the multivariable logistic regression were included in the scoring system: quick Sepsis-related Organ Failure Assessment score ≥2 (2 points), anemia, paranephric gas extension, leukocyte count >22,000/µL, thrombocytopenia, and hyperglycemia (1 point each). The mortality rate was <5% for scores ≤3, 83.3% for scores 6, and 100% for scores 7. The area under the curve was 0.90 (95% confidence interval, 0.84-0.95) for test and 0.91 (95% confidence interval, 0.84-0.97) for the validation group. Conclusions: Our score predicts the risk of mortality in patients with EPN at presentation and may help clinicians identify patients at a higher risk of death.

13.
Int J Cardiol Heart Vasc ; 51: 101367, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38435382

RESUMO

Background: The diagnosis of left dominant arrhythmogenic cardiomyopathy (LDAC) is sometimes complex. The Padua group recently published a document with criteria to identify patients with LDAC, requiring a compatible genetic variant for diagnosis. Due to the gaps in the knowledge of the role of genetics in its pathogenesis, our objective is to describe the findings of the genetic test in patients with LDAC in our center and its prognostic impact. Methods: Single-center prospective cohort study, in which we recruited 77 patients diagnosed with LDAC or biventricular arrhythmogenic cardiomyopathy according to the criteria of Sen-Chowdhry et al. Results: We obtained a positive result in the genetic test in 53.2 %. The desmoplakin gene was the most affected (16.9 %). The mean value of left ventricular (LV) ejection fraction was 45.6 ± 13.1 %, with no significant differences in the severity of the dysfunction according to genetics (p = 0.187). Among the patients with positive genetics there was a greater number of segments in the LV affected by fibrosis (p = 0.043). Regarding fatty infiltration in the LV and number of affected segments, there were no significant differences between groups (p = 0.144). MACE was recorded in 23 patients (29.9 %). The positive result in the genetic test was not significantly associated with the occurrence of MACE (p = 0.902). Conclusion: In our study, we did not find mutations responsible for the disease in practically half of the cases. Despite the existence of a high proportion of MACE during follow-up, there were no prognostic differences according to the result of the genetic test.

14.
Data Brief ; 53: 110218, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38425877

RESUMO

Concrete is a prominent construction material globally, owing to its reputed attributes such as robustness, endurance, optimal functionality, and adaptability. Formulating concrete mixtures poses a formidable challenge, mainly when introducing novel materials and additives and evaluating diverse design resistances. Recent methodologies for projecting concrete performance in fundamental aspects, including compressive strength, flexural strength, tensile strength, and durability (encompassing homogeneity, porosity, and internal structure), exist. However, actual approaches need more diversity in the materials and properties considered in their analyses. This dataset outlines the outcomes of an extensive 10-year laboratory investigation into concrete materials involving mechanical tests and non-destructive assessments within a comprehensive dataset denoted as ConcreteXAI. This dataset encompasses evaluations of mechanical performances and non-destructive tests. ConcreteXAI integrates a spectrum of analyzed mixtures comprising twelve distinct concrete formulations incorporating diverse additives and aggregate types. The dataset encompasses 18,480 data points, establishing itself as a cutting-edge resource for concrete analysis. ConcreteXAI acknowledges the influence of artificial intelligence techniques in various science fields. Emphatically, deep learning emerges as a precise methodology for analyzing and constructing predictive models. ConcreteXAI is designed to seamlessly integrate with deep learning models, enabling direct application of these models to predict or estimate desired attributes. Consequently, this dataset offers a resourceful avenue for researchers to develop high-quality prediction models for both mechanical and non-destructive tests on concrete elements, employing advanced deep learning techniques.

15.
BMC Sports Sci Med Rehabil ; 16(1): 65, 2024 Mar 06.
Artigo em Inglês | MEDLINE | ID: mdl-38449019

RESUMO

BACKGROUND: Fat Free Mass (FFM) is an important and essential indicator in various sports populations, since greater muscle and bone mass generates greater strength, endurance and speed in athletes. OBJECTIVE: The purpose of the study was to validate Body Surface Area (BSA) as an anthropometric indicator to estimate FFM in young basketball players. METHODS: A descriptive cross-sectional study was carried out in 105 male basketball players of the Brazilian Basketball Confederation of Sao Paulo (Campinas), Brazil. The age range was 11 to 15 years. Weight and height were evaluated. BSA, body mass index (BMI) and maturity status (MS) were calculated. Total body scanning was performed by dual X-ray absorptiometry (DXA). The components were extracted: Fat mass (FM), Fat free mass (FFM), percentage of fat mass (%FM) and bone mass (BM). The data were analyzed using the correlation coefficient of concordance (CCC) in terms of precision and accuracy. RESULTS: Three regression equations were generated: equation 1 had age and body weight as predictors [FFM= -30.059+(2.926*age)+(0.625*Weight)] (R2 = 92%, precision = 0.96 and accuracy = 0.99), equation 2 used age and BSA [FFM=-45.719+(1.934*age)+(39.388*BSA)] (R2 = 94%, precision = 0.97 and accuracy = 0.99) and equation 3 was based on APHV and BSA [FFM=-15.284+(1.765*APHV)+(37.610*(BSA)] (R2 = 94%, precision = 0.96 and accuracy = 0.99). CONCLUSIONS: The results suggest the use of anthropometric equation using decimal age and BSA to estimate FFM in young basketball players. This new method developed can be used to design, evaluate and control training programs and monitor the weight status of athletes.

16.
Diagnostics (Basel) ; 14(5)2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38473002

RESUMO

The progress of artificial intelligence algorithms in digital image processing and automatic diagnosis studies of the eye disease glaucoma has been growing and presenting essential advances to guarantee better clinical care for the population. Given the context, this article describes the main types of glaucoma, traditional forms of diagnosis, and presents the global epidemiology of the disease. Furthermore, it explores how studies using artificial intelligence algorithms have been investigated as possible tools to aid in the early diagnosis of this pathology through population screening. Therefore, the related work section presents the main studies and methodologies used in the automatic classification of glaucoma from digital fundus images and artificial intelligence algorithms, as well as the main databases containing images labeled for glaucoma and publicly available for the training of machine learning algorithms.

17.
J Neurooncol ; 167(1): 99-109, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38351343

RESUMO

INTRODUCTION: Recent studies have identified that glioblastoma IDH-wildtype consists of different molecular subgroups with distinct prognoses. In order to accurately describe and classify gliomas, the Visually AcceSAble Rembrandt Images (VASARI) system was developed. The goal of this study was to evaluate the VASARI characteristics in molecular subgroups of IDH-wildtype glioblastoma. METHODS: A retrospective analysis of glioblastoma IDH- wildtype with comprehensive next-generation sequencing and pre-operative and post-operative MRI was performed. VASARI characteristics and 205 genes were evaluated. Multiple comparison adjustment by the Bejamin-Hochberg false discovery rate (BH-FDR) was performed. A 1:3 propensity score match (PSM) with a Caliper of 0.2 was done. RESULTS: 178 patients with GBM IDH-WT met the inclusion criteria. 4q12 amplified patients (n = 20) were associated with cyst presence (30% vs. 12%, p = 0.042), decreased hemorrhage (35% vs. 62%, p = 0.028), and non-restricting/mixed (35%/60%) rather than restricting diffusion pattern (5%), meanwhile, 4q12 non-amplified patients had mostly restricting (47.4%) rather than a non-restricting/mixed diffusion pattern (28.4%/23.4%). This remained statistically significant after BH-FDR adjustment (p = 0.002). PSM by 4q12 amplification showed that diffusion characteristics continued to be significantly different. Among RB1-mutant patients, 96% had well-defined enhancing margins vs. 70.6% of RB1-WT (p = 0.018), however, this was not significant after BH-FDR or PSM. CONCLUSIONS: Patients with glioblastoma IDH-wildtype harboring 4q12 amplification rarely have restricting DWI patterns compared to their wildtype counterparts, in which this DWI pattern is present in ~ 50% of patients. This suggests that some phenotypic imaging characteristics can be identified among molecular subtypes of IDH-wildtype glioblastoma.


Assuntos
Neoplasias Encefálicas , Glioblastoma , Glioma , Humanos , Glioblastoma/diagnóstico por imagem , Glioblastoma/genética , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/genética , Estudos Retrospectivos , Glioma/genética , Prognóstico , Isocitrato Desidrogenase/genética , Mutação , Ubiquitina-Proteína Ligases/genética , Proteínas de Ligação a Retinoblastoma/genética
18.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-38350793

RESUMO

INTRODUCTION: Abdominal aortic aneurysm (AAA) constitutes a pathology with high mortality. There is currently no screening program implemented in primary care in Spain. OBJECTIVES: To evaluate the usefulness of ultrasound in the detection of AAA in the at-risk population in primary care. Secondarily, to identify subjects whose vascular risk (VR) should be reclassified and to determine whether AAA is associated with the presence of carotid plaque and other risk factors. MATERIAL AND METHODS: Cross-sectional, descriptive, multicenter, national, descriptive study in primary care. SUBJECTS: A consecutive selection of hypertensive males aged between 65 and 75 who are either smokers or former smokers, or individuals over the age of 50 of both sexes with a family history of AAA. MEASUREMENTS: Diameter of abdominal aorta and iliac arteries; detection of abdominal aortic and carotid atherosclerotic plaque. VR was calculated at the beginning and after testing (SCORE). RESULTS: One hundred and fifty patients were analyzed (age: 68.3±5 years; 89.3% male). Baseline RV was high/very high in 55.3%. AAA was detected in 12 patients (8%; 95% CI: 4-12); aortic ectasia in 13 (8.7%); abdominal aortic plaque in 44% and carotid plaque in 62% of the participants. VR was reclassified in 50% of subjects. The detection of AAA or ectasia was associated with the presence of carotid plaque, current smoking and lipoprotein(a), p<0.01. CONCLUSIONS: The prevalence of AAA in patients with VR is high. Ultrasound in primary care allows detection of AAA and subclinical atherosclerosis and consequently reclassification of the VR, demonstrating its utility in screening for AAA in the at-risk population.

19.
Artigo em Inglês | MEDLINE | ID: mdl-38351838

RESUMO

Although coronary angiography (CA) is the gold standard for coronary allograft vasculopathy (CAV) screening, non-invasive modalities have arisen as potential alternatives, such as coronary computed tomography angiography (CCTA). CCTA also quantifies plaque burden, which may influence medical treatment. From January 2021 to April 2022, we prospectively included heart transplant recipients who performed CCTA as a first-line method for CAV detection in a single center. Clinical, CCTA, and CA data were collected. 38 patients were included, 60.5% men, aged 58±14 years. The most frequent cause of transplantation was dilated cardiomyopathy (42.1%), and the median graft duration was 10 years [interquartile range (IQR) 9]. The median left ventricle ejection fraction was 61.5% (IQR 6). The median calcium score was 17 (IQR 231) and 32 patients (84.2%) proceeded to CCTA: 7, 24, and 1 patients had a graded CAV of 0, 1, and 2, respectively. Most patients (37.5%) had both calcified and non-calcified plaques, and the median number of affected segments was 2 (IQR 3). The remaining six patients had extensive coronary calcification, so CA was performed: 4 had CAV1, 1 had CAV2, and 1 had CAV3. During follow-up (12.2±4.2 months), there were neither deaths nor acute coronary syndromes. After CCTA, therapeutic changes occurred in about 10 (26.3%) of patients, mainly related to anti-lipid intensification; such changes were more frequent in patients with diabetes after heart transplant. In this cohort, CCTA led to therapeutic changes in about one-quarter of patients; more studies are needed to assess how CCT may guide therapy according to plaque burden.

20.
Plant Physiol ; 2024 Feb 08.
Artigo em Inglês | MEDLINE | ID: mdl-38330218

RESUMO

The transcription factor WUSCHEL-RELATED HOMEOBOX 11 (WOX11) in Arabidopsis (Arabidopsis thaliana) initiates the formation of adventitious lateral roots upon mechanical injury in primary roots. Root-invading nematodes also induce de novo root organogenesis leading to excessive root branching, but it is not known if this symptom of disease involves mediation by WOX11 and if it benefits the plant. Here, we show with targeted transcriptional repression and reporter gene analyses in Arabidopsis that the beet cyst nematode Heterodera schachtii activates WOX11-mediated adventitious lateral rooting from primary roots close to infection sites. The activation of WOX11 in nematode-infected roots occurs downstream of jasmonic acid-dependent damage signaling via ETHYLENE RESPONSE FACTOR109, linking adventitious lateral root formation to nematode damage to host tissues. By measuring different root system components, we found that WOX11-mediated formation of adventitious lateral roots compensates for nematode-induced inhibition of primary root growth. Our observations further demonstrate that WOX11-mediated rooting reduces the impact of nematode infections on aboveground plant development and growth. Altogether, we conclude that the transcriptional regulation by WOX11 modulates root system plasticity under biotic stress, which is one of the key mechanisms underlying tolerance of Arabidopsis to cyst nematode infections.

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