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1.
Front Med (Lausanne) ; 11: 1381118, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39228801

RESUMO

Introduction: Moderate-to-late preterm infants constitute the majority within the preterm infant population. Most research on preterm infants has focused on very preterm children, often treating moderate-to-late preterm infants as similar to full-term infants. Our objective was to compare clinical, respiratory, cardio-metabolic and neurodevelopmental outcomes in adolescents aged 12-15 years born moderate and late preterm with a control group of the same age born full-term. Methods: Observational cross-sectional study, comparing moderate-to-late preterm (32-36+6 weeks' gestational age) with full-term adolescents (37-41+6 weeks' gestational age; 75 each group). Perinatal and neonatal history were collected as well as data on respiratory evolution (ISAAC questionnaire for asthma symptoms for adolescents 13-14 years), anthropometric values, learning difficulties, behavioral test (screening questionnaire for high-performance autism spectrum disorder and evaluation test for attention deficit hyperactivity disorder), skin prick test, pulmonary function test, echocardiogram and blood pressure. A blood test with metabolic profile was conducted. Results: Moderate-to-late preterm adolescents had more current asthma [p = 0.008, OR3 (95% CI 1.26-7.14)] and longer duration of combined treatments to control asthma (inhaled corticosteroids and anti-leukotrienes; p = 0.048). Forced vital capacity <80% was detected more often in moderate-to-late preterm patients (p = 0.013). When assessing right ventricle, moderate-to-late preterm adolescents showed better tricuspid annular plane systolic excursion z-score (p = 0.003), shortening fraction (p < 0.001) and E/A ratio z-score (p = 0.002). Regarding left ventricular assessment, moderate-to-late preterm group had smaller ventricle diastolic diameter (p = 0.04) and lower posterior wall z-score values (p = 0.037). They also showed a better S'wave z-score (p = 0.027), E wave (p = 0.005), E/A ratio (p = 0.003) and a higher septal myocardial performance index z-score (p = 0.025). Moderate-to-late preterm adolescents presented lower weight z-score (p = 0.039), body mass index z-score (p = 0.013), Waterlow weight index (p = 0.006) and higher undernutrition index [p = 0.04; OR 1.4 (95% CI 1-1.9)]. Although there were no differences in neurodevelopmental survey or behavioral tests. Conclusion: Our findings underscore the importance of extended follow-up for this predominant group of premature infants to identify potential respiratory, cardiac and anthropometric issues that may emerge in the future.

2.
Alzheimers Dement ; 2024 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-39234644

RESUMO

INTRODUCTION: The potential utility of subjective cognitive decline (SCD) as an early risk marker of Alzheimer's disease and related dementias is under consideration. We examined associations between SCD and cognitive change among middle-aged and older Hispanic/Latino adults living in the United States. METHODS: The short-form Everyday Cognition Scale (ECog-12) was assessed to generate global, executive function, and memory-related SCD scores. We used survey generalized regressions to model the change in learning, memory, verbal fluency, executive function, and global cognitive performance over 7 years as a function of SCD (at Visit 2). RESULTS: The mean age was 56.37 ± 8.10 years at Visit 1 (n = 6225). Higher ECog-12 was associated with greater decline in global cognitive performance (ECog-12 global: B = -0.17, standard error [SE] = 0.02; ECog-12 executive: B = -0.15, SE = 0.02; ECog-12 memory: B = -0.14, SE = 0.02, p's < 0.001). DISCUSSION: These results support the link between subjective reports of cognitive decline and objectively measured 7-year cognitive decline in community-dwelling, middle-aged, and older Hispanic/Latino adults. HIGHLIGHTS: We found that nearly two-thirds of diverse middle-aged and older Hispanics/Latinos reported cognitive concerns in a large and representative population study. Self-reported subjective experiences of cognitive decline reflect objective cognitive decline in US Hispanics/Latinos. The relationship is stronger among men compared to women. The relationship between subjective and objective changes to memory are stronger in those with cognitive concerns, and remain even in cognitively healthy individuals.

3.
Prev Med ; 187: 108096, 2024 Aug 11.
Artigo em Inglês | MEDLINE | ID: mdl-39137866

RESUMO

OBJECTIVE: To examine inequalities in self-rated health between immigrant and native populations in 2014 and 2020, and whether these inequalities vary by sex/gender and social support. METHODS: This cross-sectional study used information from adults aged ≥18 years who participated in the European Health Interview Survey in Spain in 2014 and 2020. Self-rated health was specified as good or bad/poor. Immigration status and length of stay were considered to specify the exposure. Poisson regression was used to estimate prevalence ratios (PR) and 95% confidence intervals (CI) in each survey. Interaction terms between immigration status and survey; and immigration status, survey, and sex/gender or social support were tested. RESULTS: The adjusted analyses showed that when compared with Spanish native adults, immigrants with 6-15 years residing in Spain had a 1.34 (95%CI:1.18, 1.53) greater probability of rating their health as bad/poor in 2014. This probability was 1.48 (95%CI:1.28, 1.75) in 2020. No heterogeneity was observed for the associations of immigrant status/length of stay with self-rated health for sex/gender or social support in either survey (p-interactions for sex/gender: 0.41 and social support: 0.71). CONCLUSION: Given the growth of the immigrant population in Spain and the importance of immigration as a social determinant of health, these findings call attention to a deeper examination of inequalities, with the aim of identifying potential factors leading to bad/poor rating of health over time.

4.
Sleep ; 2024 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-38995206

RESUMO

STUDY OBJECTIVES: The STOP-Bang questionnaire is a validated screening tool for obstructive sleep apnea (OSA). We conducted this study to validate it among patients hospitalized with acute symptomatic pulmonary embolism (PE). METHODS: This prospective cohort study enrolled consecutive stable patients with acute PE who underwent an overnight sleep study within 7 days after diagnosis. Our outcomes were: i) the STOP-Bang questionnaire's utility for risk stratification, ii) the discrimination of the STOP-Bang questionnaire categories, iii) the false negative rate of STOP-Bang questionnaire prediction, and iv) the clinical utility of the STOP-Bang questionnaire to exclude OSA. We also calculated the test performance characteristics to predict OSA. RESULTS: During the study period, 268 patients completed a sleep study. OSA was found in 47% of patients. OSA incidence in low-, moderate-, and high-risk STOP-Bang groups was 22.4%, 48.2%, and 61.5%, respectively (P <0.001). The area under the receiver operating characteristics curve of the STOP-Bang questionnaire for risk of OSA was 0.65. The false negative rate of a low-risk STOP-Bang questionnaire result to rule out OSA was 22.4% and the clinical utility was 21.6%. The sensitivity was 89.8% (97.2% for men and 80.4% for women). CONCLUSIONS: The STOP-Bang questionnaire showed poor discrimination for the risk of OSA in hospitalized patients with acute symptomatic PE. It had a high false negative rate and a low clinical utility. The STOP-Bang questionnaire had a good sensitivity in men, and might be used to rule out OSA in this population.

5.
Injury ; 55(10): 111715, 2024 Jul 04.
Artigo em Inglês | MEDLINE | ID: mdl-39032221

RESUMO

PURPOSE: To identify risk factors predisposing patients to poor outcomes after fixation of periprosthetic hip fractures around femoral stems. METHODS: Prospective multicentre cohort study of fractures around a hip replacement stem managed by internal fixation. The primary outcome was one-year mortality, while secondary outcomes were local complications and healthcare burden-related outcomes (nursing facility utilization and hospital length of stay). RESULTS: One-year mortality was 16.2%. Age-adjusted Charlson Comorbidity Index score (OR=1.17; 95%CI=1.03-1.33)), Pfeiffer Short Portable Mental Status Questionnaire (SPMSQ) score (OR=1.16; 1.06-1.28), prosthetic dysfunction (OR=1.90; 1.00-3.61), and postoperative medical complications (OR=1.97; 1.06-3.68) were predictors of mortality. Patients with prior prosthetic dysfunction, lower Pfeiffer SPMSQ scores, Vancouver A fractures, and fractures fixed only using cerclages were at higher risk of local complications, which occurred in 9.3% of cases. Medical (OR=1.81; 1.05-3.13) and local complications (OR=5.56; 2.42-3.13) emerged as consistent risk factors for new institutionalization. Average hospitalization time was 13.9±9.2 days. Each day of fixation delay led to an average 1.4-day increase in total hospitalization. CONCLUSION: Frail periprosthetic hip-fracture patients with poorer functional status, dysfunctional replacements, and postoperative complications are at increased risk of mortality. Postoperative complications are more common in patients with dysfunctional arthroplasties, Vancouver A fractures, and fixation using cerclages alone. Postoperative complications were the most consistent predictor of higher healthcare resource utilization.

6.
JAC Antimicrob Resist ; 6(4): dlae098, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39005591

RESUMO

Background: Acinetobacter baumannii-calcoaeticus complex is the leader pathogen for the World Health Organization's list due to the escalating prevalence of multidrug-resistant strains. Insights into the molecular characterization of carbapenemase genes in A. baumannii-calcoaceticus complex infections among children are scarce. To address this gap, we conducted a systematic review to describe the molecular epidemiology of the carbapenemase genes in A. baumannii-calcoaceticus complex infections in the pediatric population. Methods: Adhering to the PRISMA 2020 guidelines for reporting systematic reviews, we conducted a review of in chore bibliographic databases published in English and Spanish, between January 2020 and December 2022. All studies conducted in patients ≤6 years with molecular characterization of carbapenemase-encoding genes in A. baumannii-calcoaceticus infections were included. Results: In total, 1129 cases were reviewed, with an overall carbapenem-resistance rate of 60.3%. A. baumannii-calcoaceticus was isolated from blood cultures in 66.6% of cases. Regionally, the Eastern Mediterranean exhibited the highest prevalence of carbapenem resistance (88.3%). Regarding the carbapenemase genes, blaKPC displayed an overall prevalence of 1.2%, while class B blaNDM had a prevalence of 10.9%. Class D blaOXA-23-like reported a prevalence of 64%, blaOXA-48 and blaOXA-40 had a prevalence of 33% and 18.1%, respectively. Notably, the Americas region showed a prevalence of blaOXA-23-like at 91.6%. Conclusion: Our work highlights the high prevalence of carbapenem-resistant A. baumannii-calcoaceticus and class D carbapenemase genes in children. Of note the distribution of different carbapenemase genes reveals considerable variations across WHO regions. To enhance epidemiological understanding, further extensive studies in children are imperative.

7.
FASEB J ; 38(14): e23818, 2024 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-38989572

RESUMO

The association between cardiac fibrosis and galectin-3 was evaluated in patients with acute myocardial infarction (MI). The role of galectin-3 and its association with endoplasmic reticulum (ER) stress activation in the progression of cardiovascular fibrosis was also evaluated in obese-infarcted rats. The inhibitor of galectin-3 activity, modified citrus pectin (MCP; 100 mg/kg/day), and the inhibitor of the ER stress activation, 4-phenylbutyric acid (4-PBA; 500 mg/kg/day), were administered for 4 weeks after MI in obese rats. Overweight-obese patients who suffered a first MI showed higher circulating galectin-3 levels, higher extracellular volume, and LV infarcted size, as well as lower E/e'ratio and LVEF compared with normal-weight patients. A correlation was observed between galectin-3 levels and extracellular volume. Obese-infarcted animals presented cardiac hypertrophy and reduction in LVEF, and E/A ratio as compared with control animals. They also showed an increase in galectin-3 gene expression, as well as cardiac fibrosis and reduced autophagic flux. These alterations were associated with ER stress activation characterized by enhanced cardiac levels of binding immunoglobulin protein, which were correlated with those of galectin-3. Both MCP and 4-PBA not only reduced cardiac fibrosis, oxidative stress, galectin-3 levels, and ER stress activation, but also prevented cardiac functional alterations and ameliorated autophagic flux. These results show the relevant role of galectin-3 in the development of diffuse fibrosis associated with MI in the context of obesity in both the animal model and patients. Galectin-3 in tandem with ER stress activation could modulate different downstream mechanisms, including inflammation, oxidative stress, and autophagy.


Assuntos
Estresse do Retículo Endoplasmático , Galectina 3 , Obesidade , Animais , Galectina 3/metabolismo , Obesidade/metabolismo , Obesidade/complicações , Masculino , Ratos , Humanos , Pectinas/farmacologia , Pessoa de Meia-Idade , Infarto do Miocárdio/metabolismo , Infarto do Miocárdio/patologia , Infarto do Miocárdio/complicações , Feminino , Fibrose , Ratos Wistar , Isquemia Miocárdica/metabolismo , Isquemia Miocárdica/patologia , Fenilbutiratos/farmacologia , Autofagia , Miocárdio/metabolismo , Miocárdio/patologia , Galectinas/metabolismo , Idoso , Proteínas Sanguíneas/metabolismo
8.
BMC Nurs ; 23(1): 455, 2024 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-38961487

RESUMO

BACKGROUND: The first waves of the COVID-19 pandemic had a negative impact on health systems and health professionals, due to the high number of cases and a lack of preparation. The aim of this study was to understand how nurses working in hospital units and in intensive care perceived the performance of nurse managers and senior hospital management during the first two waves of the pandemic. METHODS: The phenomenological approach proposed by Giorgi was used to investigate perceptions of the performance of nurse managers and senior hospital management during the first two waves of the COVID-19 pandemic in Spain. Fourteen clinical nurses who worked on the front line in inpatient units or intensive care units of the Health Services of Extremadura and Madrid in the first (March-April 2020) and second (October-November 2020) waves of the COVID-19 pandemic participated in this study. The data was collected through semi-structured interviews, following a script of themes, in a theoretical sample of nurses who were worked during the pandemic. RESULTS: Two main themes emerged from the analysis of the data: (1) perceptions about the performance of nurse managers and senior hospital managers during the first and second waves of the pandemic (health system failure; belief that senior hospital management professionals could have managed the pandemic better; recognizing the efforts of middle management (nursing supervisors); insufficient institutional support) and (2) strategies employed by nurses to compensate for the weaknesses in pandemic management. CONCLUSIONS: The clinical nurses perceived that the nurse managers demonstrated better management of the pandemic than the hospital's senior management, which they attribute to their proximity, empathy, accessibility, and ability to mediate between them and the senior management. The nurses also believe that the senior management of the hospitals was to blame for organisational failures and the poor management of the pandemic.

10.
Sensors (Basel) ; 24(12)2024 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-38931796

RESUMO

Physical aggression is a serious and widespread problem in society, affecting people worldwide. It impacts nearly every aspect of life. While some studies explore the root causes of violent behavior, others focus on urban planning in high-crime areas. Real-time violence detection, powered by artificial intelligence, offers a direct and efficient solution, reducing the need for extensive human supervision and saving lives. This paper is a continuation of a systematic mapping study and its objective is to provide a comprehensive and up-to-date review of AI-based video violence detection, specifically in physical assaults. Regarding violence detection, the following have been grouped and categorized from the review of the selected papers: 21 challenges that remain to be solved, 28 datasets that have been created in recent years, 21 keyframe extraction methods, 16 types of algorithm inputs, as well as a wide variety of algorithm combinations and their corresponding accuracy results. Given the lack of recent reviews dealing with the detection of violence in video, this study is considered necessary and relevant.


Assuntos
Algoritmos , Aprendizado Profundo , Gravação em Vídeo , Violência , Humanos , Gravação em Vídeo/métodos , Inteligência Artificial , Processamento de Imagem Assistida por Computador/métodos
11.
J Leukoc Biol ; 116(2): 260-270, 2024 Jul 25.
Artigo em Inglês | MEDLINE | ID: mdl-38836652

RESUMO

Eosinophils are leukocytes characterized by their ability to release granule content that is highly rich in enzymes and proteins. Besides the antihelminthic, bactericidal, and antiviral properties of eosinophils and their secretory granules, these also play a prominent role in the pathophysiology of diseases such as asthma, eosinophilic esophagitis, and other hypereosinophilic conditions by causing tissue damage and airway hyperresponsiveness. Although this cell was first recognized mainly for its capacity to release granule content, nowadays other capabilities such as cytokine secretion have been linked to its physiology, and research has found that eosinophils are not only involved in innate immunity, but also as orchestrators of immune responses. Nearly 10 yr ago, eosinophil-derived extracellular vesicles (EVs) were first described; since then, the EV field has grown exponentially, revealing their vital roles in intracellular communication. In this review, we synthesize current knowledge on eosinophil-derived EVs, beginning with a description of what they are and what makes them important regulators of disease, followed by an account of the methodologies used to isolate and characterize EVs. We also summarize current understanding of eosinophil-derived vesicles functionality, especially in asthma, the disease in which eosinophil-derived EVs have been most widely studied, describing how they modulate the role of eosinophils themselves (through autocrine signaling) and the way they affect airway structural cells and airway remodeling. Deeper understanding of this cell type could lead to novel research in eosinophil biology, its role in other diseases, and possible use of eosinophil-derived EVs as therapeutic targets.


Assuntos
Eosinófilos , Vesículas Extracelulares , Humanos , Eosinófilos/imunologia , Eosinófilos/metabolismo , Vesículas Extracelulares/metabolismo , Vesículas Extracelulares/imunologia , Animais , Asma/imunologia , Asma/patologia , Asma/metabolismo
12.
J Mol Diagn ; 26(8): 727-738, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38851388

RESUMO

The molecular diagnosis of mismatch repair-deficient cancer syndromes is hampered by difficulties in sequencing the PMS2 gene, mainly owing to the PMS2CL pseudogene. Next-generation sequencing short reads cannot be mapped unambiguously by standard pipelines, compromising variant calling accuracy. This study aimed to provide a refined bioinformatic pipeline for PMS2 mutational analysis and explore PMS2 germline pathogenic variant prevalence in an unselected hereditary cancer (HC) cohort. PMS2 mutational analysis was optimized using two cohorts: 192 unselected HC patients for assessing the allelic ratio of paralogous sequence variants, and 13 samples enriched with PMS2 (likely) pathogenic variants screened previously by long-range genomic DNA PCR amplification. Reads were forced to align with the PMS2 reference sequence, except those corresponding to exon 11, where only those intersecting gene-specific invariant positions were considered. Afterward, the refined pipeline's accuracy was validated in a cohort of 40 patients and used to screen 5619 HC patients. Compared with our routine diagnostic pipeline, the PMS2_vaR pipeline showed increased technical sensitivity (0.853 to 0.956, respectively) in the validation cohort, identifying all previously PMS2 pathogenic variants found by long-range genomic DNA PCR amplification. Fifteen HC cohort samples carried a pathogenic PMS2 variant (15 of 5619; 0.285%), doubling the estimated prevalence in the general population. The refined open-source approach improved PMS2 mutational analysis accuracy, allowing its inclusion in the routine next-generation sequencing pipeline streamlining PMS2 screening.


Assuntos
Biologia Computacional , Testes Genéticos , Sequenciamento de Nucleotídeos em Larga Escala , Endonuclease PMS2 de Reparo de Erro de Pareamento , Humanos , Endonuclease PMS2 de Reparo de Erro de Pareamento/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Biologia Computacional/métodos , Testes Genéticos/métodos , Análise Mutacional de DNA/métodos , Mutação em Linhagem Germinativa , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/diagnóstico
13.
Nanoscale ; 16(24): 11679-11687, 2024 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-38856701

RESUMO

FeRh alloys in the CsCl-type (B2) chemically ordered phase present an antiferromagnetic to ferromagnetic order transition around 370 K observed in bulk and continuous films but absent in nanoclusters. In this study, we investigate the thermal magnetic behavior of a thick film composed of assembled FeRh nanoclusters preformed in the gas phase. This work reveals a broad and asymmetric metamagnetic transition with a consequent residual magnetization at low temperature. Due to the coexistence of different grain sizes in the sample, we confront the results with a description that involves two populations of B2-FeRh particles, and the existence of a discriminating size below which the magnetic order transition does not take place.

14.
J Cardiovasc Dev Dis ; 11(6)2024 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-38921682

RESUMO

AIM: To assess the acute effect of empagliflozin versus dapagliflozin administration on flow-mediated vasodilation in patients with type 2 diabetes mellitus. DESIGN: A double-blind clinical trial, at the Experimental and Clinical Therapeutics Institute, University Health Sciences Center, at the Universidad de Guadalajara, in inpatients with T2D according to the 2023 ADA criteria. METHODS: Thirty patients (15 males and 15 females), aged between 35 and 65 years, were included in this study, according to the 2023 ADA criteria. The eligible patients were randomly assigned to three groups: empagliflozin 25 mg once daily, dapagliflozin 10 mg once daily, or placebo once daily. Anthropometric parameters were taken using validated techniques. FMD was measured using a high-resolution semiautomatic ultrasound UNEX-EF 38G (UNEX Co., Ltd., Nagoya, Japan). Arterial tension was determined with the OMRON electronic digital sphygmomanometer (HEM 907 XL, Kyoto, Japan). RESULTS: The group of patients who received empagliflozin had a significantly lower baseline flow-mediated dilation (FMD) compared to the group receiving dapagliflozin (p = 0.017); at the end of this study, the empagliflozin group achieved a comparable FMD to the dapagliflozin group (p = 0.88). CONCLUSION: After the treatment period, the empagliflozin and dapagliflozin groups achieved similar FMD, suggesting a class effect.

15.
Cureus ; 16(4): e59277, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38813338

RESUMO

The onset of menopause, marked by hormonal fluctuations and a decline in estrogen levels, is suggested to be linked to increased susceptibility to vestibular disturbances. Estrogen, beyond its established association with reproductive physiology, plays modulatory roles in various physiological systems, including neurosensory function. The vestibular system, crucial for balance and spatial orientation, is influenced by hormonal changes during menopause, potentially contributing to the emergence of vertigo symptoms. This interplay between hormones and the vestibular system is a burgeoning area of research with clinical implications, offering insights into novel diagnostic and therapeutic approaches for managing postmenopausal women with vestibular disorders. The article reviews current scientific literature, delves into the hormonal intricacies of menopause, and investigates potential mechanisms underlying the connection between hormonal fluctuations and vertigo symptoms.

16.
J Perianesth Nurs ; 39(4): 558-566, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38573299

RESUMO

PURPOSE: Assess the efficiency of a cognitive training program using an artificial intelligence application to optimize cognitive reserve and reduce memory disturbance in patients aged 55 to 75 after Class II-III elective noncardiac surgery. DESIGN: Experimental with random assignment. METHODS: The study was conducted on 80 patients undergoing surgery at the Teknon Medical Center Hospital in Barcelona, from April 2018 to June 2021. Both groups were evaluated with cognitive tests before surgery and 7 and 30 days after surgery. The experimental group was subjected to cognitive training for 10 days before surgery to improve their cognitive reserve. FINDINGS: Significant differences were found between the study groups 30 days after surgery in the three screening tests (Mini-Cog, T@M, and MFE). The intervention group presented with fewer cognitive and memory alterations. Age and pre-existing comorbidities were not correlated with an impact on memory impairment or cognitive function. CONCLUSIONS: A cognitive training program based on artificial intelligence, prescribed and monitored by anesthesia nurses has a positive impact on increasing cognitive reserve and reducing memory disturbance in patients aged 55 to 75 undergoing Class II to III elective, noncardiac surgery. This intervention may serve as a prehabilitation strategy in patients with a risk of cognitive dysfunction evaluated by anesthesia nurses for the purpose of preserving their cognitive function and optimizing their recovery.


Assuntos
Procedimentos Cirúrgicos Eletivos , Transtornos da Memória , Complicações Cognitivas Pós-Operatórias , Humanos , Feminino , Masculino , Idoso , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Eletivos/métodos , Procedimentos Cirúrgicos Eletivos/efeitos adversos , Complicações Cognitivas Pós-Operatórias/prevenção & controle , Transtornos da Memória/prevenção & controle , Disfunção Cognitiva , Espanha , Inteligência Artificial , Treino Cognitivo
17.
Cancer Med ; 13(7): e7041, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38558366

RESUMO

BACKGROUND: Up to 70% of suspected Lynch syndrome patients harboring MMR deficient tumors lack identifiable germline pathogenic variants in MMR genes, being referred to as Lynch-like syndrome (LLS). Previous studies have reported biallelic somatic MMR inactivation in a variable range of LLS-associated tumors. Moreover, translating tumor testing results into patient management remains controversial. Our aim is to assess the challenges associated with the implementation of tumoral MMR gene testing in routine workflows. METHODS: Here, we present the clinical characterization of 229 LLS patients. MMR gene testing was performed in 39 available tumors, and results were analyzed using two variant allele frequency (VAF) thresholds (≥5% and ≥10%). RESULTS AND DISCUSSION: More biallelic somatic events were identified at VAF ≥ 5% than ≥10% (35.9% vs. 25.6%), although the rate of nonconcordant results regarding immunohistochemical pattern increased (30.8% vs. 20.5%). Interpretation difficulties question the current utility of the identification of MMR somatic hits in the diagnostic algorithm of suspected LS cases.


Assuntos
Neoplasias Encefálicas , Neoplasias Colorretais Hereditárias sem Polipose , Neoplasias Colorretais , Síndromes Neoplásicas Hereditárias , Humanos , Neoplasias Colorretais/genética , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais Hereditárias sem Polipose/patologia , Mutação em Linhagem Germinativa , Reparo de Erro de Pareamento de DNA/genética
18.
Nefrologia (Engl Ed) ; 44(2): 233-240, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38631961

RESUMO

BACKGROUND AND OBJECTIVE: The association of hypouricemia and hypercalciuria is rare. In 1974 a new syndrome named Hypouricemia with hypercalciuria and decreased bone density was described. Afterwards, some cases with such association were published in which the fractional excretion of urate was higher than 20ml/100ml FGR. We have analyzed a series of children who were diagnosed with hypouricemia and hypercalciuria and who were monitored. The aim of this study was to determine whether our patients could be affected by the aforementioned syndrome or be carriers of a variant of idiopathic hypercalciuria. PATIENTS AND METHODS: Retrospective longitudinal study in which the medical records of eight patients (5V, 3M) diagnosed with hypouricemia and hypercalciuria in childhood. Clinical features at diagnosis, ultrasound and densitometric findings and selected biochemical variables were noted, with special emphasis on renal tubular handling of urate. Results were compared with 36 children with idiopathic hypercalciuria without hypouricemia (14V, 22M). RESULTS: In the hypouricemia group baseline urate levels were 1.9 (0.3) mg/dl (range: 1.5-2) and first day urine calcium/creatinine ratio 0.27 (0.05) mg/mg (range: 0.23-0.31). In all cases fractional urate excretion was less than 20ml/100ml FGR. The z-DMO values were less than -1 in 4/8 cases. At the last follow-up only three cases still had an elevated calcium/creatinine ratio and in all of them the urates levels was greater than 2mg/dl. The z-DMO value had improved in five cases and worsened in three others. In relation to the group without hypouricemia, no differences were observed between the various parameters studied including the z-DMO value, with the exception of fractional excretion and tubular urate reabsorption although plasmatic uric acid levels were still significantly lower. CONCLUSION: Our patients with hypercalciuria and hypouricemia would be affected by a variant of idiopathic hypercalciuria in which, due to an unknown cause, the proximal tubular reabsorption of urate is modestly reduced and improves over time. Hypouricemia with hypercalciuria and decreased bone density may not be a specific entity.


Assuntos
Hipercalciúria , Ácido Úrico , Humanos , Hipercalciúria/complicações , Estudos Longitudinais , Estudos Retrospectivos , Feminino , Masculino , Criança , Pré-Escolar , Ácido Úrico/sangue , Adolescente , Lactente , Densidade Óssea
19.
Children (Basel) ; 11(3)2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38539331

RESUMO

This systematic review was conducted with the objective of understanding the efficacy and safety of proton pump inhibitors (PPIs) in the pediatric population. We used PubMed to identify randomized controlled trials (RCTs) published between 1 June 2010 and 30 June 2023, performed in patients from birth to 18 years old with gastroesophageal reflux disease (GERD) who received treatment with any PPI. This literature search yielded 76 articles and 13 of these met the inclusion criteria. For infants, PPIs were equal to placebos in reducing GERD symptoms in four articles. In one article, the numbers of GER episodes and esophageal acid exposures were lower in infants who received PPIs in the left lateral position, but there was generally no significant improvement in symptoms. In another publication, the combination of PPIs and feeding modifications (FMs) was not more effective than PPIs alone. For children and adolescents, PPIs were effective in improving symptoms and achieving endoscopic healing, which was subsequently maintained. To conclude, PPIs are not effective in reducing the symptoms related to GERD in infants but are effective in older children, where histological remission can be seen. Generally, PPIs are well tolerated, but it is important to remember the possible adverse events (AEs), especially if PPIs are used for an extended period.

20.
Sci Rep ; 14(1): 418, 2024 01 03.
Artigo em Inglês | MEDLINE | ID: mdl-38172585

RESUMO

Boron Neutron Capture Therapy (BNCT) is a radiotherapy technique based on the enrichment of tumour cells with suitable 10-boron concentration and on subsequent neutron irradiation. Low-energy neutron irradiation produces a localized deposition of radiation dose caused by boron neutron capture reactions. Boron is vehiculated into tumour cells via proper borated formulations, able to accumulate in the malignancy more than in normal tissues. The neutron capture releases two high-LET charged particles (i.e., an alpha particle and a lithium ion), losing their energy in a distance comparable to the average dimension of one cell. Thus BNCT is selective at the cell level and characterized by high biological effectiveness. As the radiation field is due to the interaction of neutrons with the components of biological tissues and with boron, the dosimetry requires a formalism to express the absorbed dose into photon-equivalent units. This work analyzes a clinical case of an adenoid cystic carcinoma treated with carbon-ion radiotherapy (CIRT), located close to optic nerve and deep-seated as a practical example of how to apply the formalism of BNCT photon isoeffective dose and how to evaluate the BNCT dose distribution against CIRT. The example allows presenting different dosimetrical and radiobiological quantities and drawing conclusions on the potential of BNCT stemming on the clinical result of the CIRT. The patient received CIRT with a dose constraint on the optic nerve, affecting the peripheral part of the Planning Target Volume (PTV). After the treatment, the tumour recurred in this low-dose region. BNCT was simulated for the primary tumour, with the goal to calculate the dose distribution in isoeffective units and a Tumour Control Probability (TCP) to be compared with the one of the original treatment. BNCT was then evaluated for the recurrence in the underdosed region which was not optimally covered by charged particles due to the proximity of the optic nerve. Finally, a combined treatment consisting in BNCT and carbon ion therapy was considered to show the consistency and the potential of the model. For the primary tumour, the photon isoeffective dose distribution due to BNCT was evaluated and the resulted TCP was higher than that obtained for the CIRT. The formalism produced values that are consistent with those of carbon-ion. For the recurrence, BNCT dosimetry produces a similar TCP than that of primary tumour. A combined treatment was finally simulated, showing a TCP comparable to the BNCT-alone with overall dosimetric advantage in the most peripheral parts of the treatment volume. Isoeffective dose formalism is a robust tool to analyze BNCT dosimetry and to compare it with the photon-equivalent dose calculated for carbon-ion treatment. This study introduces for the first time the possibility to combine the dosimetry obtained by two different treatment modalities, showing the potential of exploiting the cellular targeting of BNCT combined with the precision of charged particles in delivering an homogeneous dose distribution in deep-seated tumours.


Assuntos
Terapia por Captura de Nêutron de Boro , Neoplasias de Cabeça e Pescoço , Radioterapia com Íons Pesados , Humanos , Terapia por Captura de Nêutron de Boro/métodos , Boro , Carbono , Nêutrons
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