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The extracellular matrix (ECM) is a dynamic set of molecules produced by the cellular component of normal and pathological tissues of the embryo and adult. ECM acts as critical regulator in various biological processes such as differentiation, cell proliferation, angiogenesis, and immune control. The most frequent primary brain tumors are gliomas and by far the majority are adult astrocytic tumors (AATs). The prognosis for patients with these neoplasms is poor and the treatments modestly improves survival. In the literature, there is a fair number of studies concerning the composition of the ECM in AATs, while the number of studies relating the composition of the ECM with the immune regulation is smaller. Circulating ECM proteins have emerged as a promising biomarker that reflect the general immune landscape of tumor microenvironment and may represent a useful tool in assessing disease activity. Given the importance it can have for therapeutic and prognostic purposes, the aim of our study is to summarize the biological properties of ECM components and their effects on the tumor microenvironment and to provide an overview of the interactions between major ECM proteins and immune cells in AATs. As the field of immunotherapy in glioma is quickly expanding, we retain that current data together with future studies on ECM organization and functions in glioma will provide important insights into the tuning of immunotherapeutic approaches.
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Astrocitoma , Matriz Extracelular , Microambiente Tumoral , Humanos , Matriz Extracelular/metabolismo , Microambiente Tumoral/inmunología , Astrocitoma/patología , Astrocitoma/metabolismo , Astrocitoma/inmunología , Neoplasias Encefálicas/patología , Neoplasias Encefálicas/inmunología , Neoplasias Encefálicas/metabolismo , Adulto , Animales , Proteínas de la Matriz Extracelular/metabolismoRESUMEN
Anxiety is the most common form of mental health disorder, affecting millions of people worldwide. Psychosocial interventions such as mindfulness and cognitive behavioral therapy (CBT) have been suggested as an effective treatment in the management of general anxiety and anxiety disorders, with emerging evidence also suggesting the effectiveness of hypnosis. Moreover, anxiety has shown to be linked to the onset and development of several cardiovascular diseases (CVD), which are the leading cause of global death. In this paper, we review the current literature to examine the role that anxiety has on the onset and development of CVD and summarize the current knowledge on the role that hypnosis and hypnotherapy have in reducing anxiety, also explaining how this can impact the cardiovascular system and the prevention of CVD. Review of the evidence suggests that hypnosis and hypnotherapy are effective in treating anxiety and may positively affect the heart and the cardiovascular system, reducing sympathetic activation and increasing parasympathetic tone, potentially preventing the onset of CVD related to increased sympathetic activation. However, further studies are required to further understand how hypnosis and hypnotherapy affect the cardiovascular system through investigation of the neurophysiological components of the hypnotic state and of the mind-body relationship. Healthcare systems should embed mental health screening in patients at risk of developing CVD as part of the clinical pathway and consider the role that hypnosis and hypnotherapy may play in the management of CVD.
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AIM: The aim of this study was to systematically review the current literature on the use of exergames as an exercise-based cardiac rehabilitation intervention for patients with heart failure. METHODS: PubMed, SCOPUS and CINAHL Plus databases were searched from January 2007 to August 2023. Studies considered eligible for inclusion had to report one or more of the following outcomes: functional capacity (e.g. VO 2 max), quality of life, mortality, hospital admissions, physical activity level, and engagement/satisfaction of the intervention. Only studies reported in English were included. Two reviewers independently assessed studies for their eligibility. RESULTS: Two studies (in four reports) were included. Included studies reported only data on functional capacity (6-min walking test) and on physical activity level (accelerometers). Due to the low number of included studies, no meta-analysis was performed, and results were discussed narratively. CONCLUSION: Exergames may potentially be a promising tool for exercise-based cardiac rehabilitation in patients with heart failure; however, the low number of included studies was insufficient to drawn proper conclusions. Benefits of exergames compared with traditional interventions could be the possibility of it being delivered at home, reducing some of the barriers that patients with heart failure must face. Further studies are required to assess the efficacy of exergame interventions in patients with heart failure, and to define proper guidelines to deliver exergame interventions in this population.This systematic review was registered on PROSPERO (CRD42023446948).
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Rehabilitación Cardiaca , Terapia por Ejercicio , Insuficiencia Cardíaca , Calidad de Vida , Humanos , Insuficiencia Cardíaca/rehabilitación , Insuficiencia Cardíaca/fisiopatología , Insuficiencia Cardíaca/diagnóstico , Rehabilitación Cardiaca/métodos , Terapia por Ejercicio/métodos , Resultado del Tratamiento , Tolerancia al Ejercicio , Juegos de Video , Masculino , Femenino , Anciano , Persona de Mediana Edad , Recuperación de la FunciónRESUMEN
BACKGROUND: the problem in early diagnosis of sporadic cancer is understanding the individual's risk to develop disease. In response to this need, global scientific research is focusing on developing predictive models based on non-invasive screening tests. A tentative solution to the problem may be a cancer screening blood-based test able to discover those cell requirements triggering subclinical and clinical onset latency, at the stage when the cell disorder, i.e. atypical epithelial hyperplasia, is still in a subclinical stage of proliferative dysregulation. METHODS: a well-established procedure to identify proliferating circulating tumor cells was deployed to measure the cell proliferation of circulating non-haematological cells which may suggest tumor pathology. Moreover, the data collected were processed by a supervised machine learning model to make the prediction. RESULTS: the developed test combining circulating non-haematological cell proliferation data and artificial intelligence shows 98.8% of accuracy, 100% sensitivity, and 95% specificity. CONCLUSION: this proof of concept study demonstrates that integration of innovative non invasive methods and predictive-models can be decisive in assessing the health status of an individual, and achieve cutting-edge results in cancer prevention and management.
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Inteligencia Artificial , Neoplasias , HumanosRESUMEN
Atrial fibrillation (AF) is the most common form of cardiac arrhythmia, currently affecting 2-3% of the world's population. Traditional exercise and physical activity interventions have been successfully implemented in the management of AF, with the aim of improving patients' quality of life and their exercise capacity, as well as reducing their mortality rate. Currently, new technology-mediated approaches to exercise, defined as exergame, have been shown to be successful in the delivery of exercise home-based interventions in patients with cardiovascular diseases. However, data on the effects of exergame on AF are not yet available. In this paper, we summarise the current literature on the role of traditional exercise in AF and how it affects the pathophysiology of this condition. We also review the current literature on exergame and its employment in cardiac rehabilitation and suggest its potential role in the management of AF patients. A review of the evidence suggests that traditional exercise (of light-to-moderate intensity) is beneficial in patients with AF. Additionally, exergame seems to be a promising approach for delivering exercise interventions in patients with cardiovascular diseases. Exergame may be a promising tool to improve the quality of life and exercise capacity in patients with AF, with the additional advantage of being remotely delivered, and the potential to increase patients' engagement. Proper guidelines are required to prescribe exergame interventions, considering the principles of traditional exercise prescription and applying them to this new e-health approach. Further studies are needed to validate the use of exergame in patients with AF.
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Fibrilación Atrial , Rehabilitación Cardiaca , Humanos , Fibrilación Atrial/terapia , Videojuego de Ejercicio , Calidad de Vida , Ejercicio FísicoRESUMEN
Cardiac myxoma (CM) is a potentially life-threatening disease because frequently asymptomatic or debuts with aspecific manifestations. Definitive diagnosis is established by histopathological assessment including tumor and endothelial cell markers. To derive a specific panel of circulating cells antigenically detectable, pre-surgery peripheral blood samples of CM patients were analyzed. Pre-surgery peripheral blood samples from patients with CM were simultaneously analyzed for Circulating tumor cells (CTCs) and circulating endothelial cells (CECs) that were matched with tumor tissue profiles and with patient-derived xenografts (PDXs) distinguishing tumor regions. Moreover, CECs values in CM patients were further matched with CEC's levels in cardiovascular disease and control subjects. The blood-derived cytological specimens detected at least 1-3 CTCs/ml in 10 tested CM samples (p = 0.0001) showing specific CM features preserved in the central zones of the tumor. The central zone of the primary tumor, supported by a vessel density rate (55 ± 7%), with a proliferative profile of 32 ± 3% and a percentage of Calretininpos cells (p = 0.03), is the principal site of CTCs (r = 00) dissemination. The subsets of endothelial cells recognized in the blood were indifferent to their topological distribution within the tumor and corresponding PDXs. With further refinement and validation in large cohorts, multiparametric liquid biopsies can optimally integrate clinically informative datasets and maximize their utility in pre-surgery evaluation of CM patients. Blood-derived culture's protocol provides a versatile method capable of viable analysis of CTCs of non-hematological rare tumors which conventional antibody-mediated analytical platform is unable to perform. Distinctive blood- based cell phenotype contributes to differentiate CM from other differentials assuring its prompt surgical resection by combining blood-based cell biomarkers integrated with clinically informative datasets.
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Enfermedades Cardiovasculares , Neoplasias Pulmonares , Células Neoplásicas Circulantes , Humanos , Células Endoteliales/patología , Biomarcadores de Tumor , Células Neoplásicas Circulantes/patología , Neoplasias Pulmonares/patologíaRESUMEN
BACKGROUND: Despite improvements in medical care, the quality of life of adults and adolescents with congenital heart disease remains strongly affected by their condition, often leading to depression. Psychotherapy, cognitive behavioural therapy, and other talking therapies may be effective in treating depression in both adults and young adults with congenital heart disease. The aim of this review was to assess the effects of treatments, such as psychotherapy, cognitive behavioural therapies, and talking therapies for treating depression in this population. OBJECTIVES: To evaluate the effects (both harms and benefits) of psychological interventions for reducing symptoms of depression in adolescents (aged 10 to 17 years) and adults with congenital heart disease. Psychological interventions include cognitive behavioural therapy, psychotherapy, or 'talking/counselling' therapy for depression. SEARCH METHODS: We updated searches from the 2013 Cochrane Review by searching CENTRAL, four other databases, and Conference Proceedings Citation Index to 7 March 2023, and two clinical trial registers to February 2021. We applied no language restrictions. SELECTION CRITERIA: Randomised controlled trials (RCTs) comparing psychological interventions to no intervention in the congenital heart disease population, aged 10 years and older, with depression. DATA COLLECTION AND ANALYSIS: Two review authors independently screened titles and abstracts, and independently assessed full-text reports for inclusion. Further information was sought from the authors if needed. Data were extracted in duplicate. We used standard Cochrane methods. Our primary outcome was a change in depression. Our secondary outcomes were: acceptability of treatment, quality of life, hospital re-admission, non-fatal cardiovascular events, cardiovascular behavioural risk factor, health economics, cardiovascular mortality, all-cause mortality. We used GRADE to assess the certainty of evidence for our primary outcome only. MAIN RESULTS: We identified three new RCTs (480 participants). Participants were adults with congenital heart disease. Included studies varied in intervention length (90 minutes to 3 months) and follow-up (3 to 12 months), with depression assessed post-intervention and at follow-up. Risk of bias assessment identified an overall low risk of bias for the main outcome of depression. Psychological interventions (talking/counselling therapy) may reduce depression more than usual care at both three-month (mean difference (MD) -1.07, 95% confidence interval (CI) -1.84 to -0.30; P = 0.006; I2 = 0%; 2 RCTs, 156 participants; low-certainty evidence), and 12-month follow-up (MD -1.02, 95% CI -1.92 to -0.13; P = 0.02; I2 = 0%; 2 RCTs, 287 participants; low-certainty evidence). There was insufficient evidence to draw conclusions about the impact of psychological interventions on quality of life. None of the included studies reported on our other outcomes of interest. Due to the low number of studies included, we did not undertake any subgroup analyses. One study awaits classification. AUTHORS' CONCLUSIONS: Psychological interventions may reduce depression in adults with congenital heart disease compared to usual care. However, the certainty of the evidence is low. Further research is needed to establish the role of psychological interventions in this population, defining the optimal duration, method of administration, and number of sessions required to obtain the greatest benefit.
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Terapia Cognitivo-Conductual , Cardiopatías Congénitas , Adulto Joven , Adolescente , Humanos , Depresión/terapia , Intervención Psicosocial , Psicoterapia/métodos , Terapia Cognitivo-Conductual/métodos , Cardiopatías Congénitas/complicaciones , Calidad de VidaRESUMEN
BACKGROUND: Telemonitoring for the remote patient self-management of chronic conditions can be a cost-effective method for delivering care in chronic disease; nonetheless, its implementation in clinical practice remains low. The aim of this meta-synthesis is to explore barriers and facilitators associated with the use of remote patient monitoring of chronic disease, drawing on qualitative research, and assessing participant interactions with this technology. METHOD: A meta-synthesis of qualitative studies was performed. MEDLINE, SCOPUS and the Cochrane Central Register of Controlled Trials (CENTRAL) were searched from database date of inception to 5 February 2021. The Critical Appraisal Skills Programme (CASP) was used to critically appraise each study. Thematic synthesis was performed to identify user (patients, carers and healthcare professionals) perspectives and experiences of patient remote monitoring of chronic disease (Type 2 diabetes mellitus, chronic obstructive pulmonary disease, and cardiovascular disease). RESULTS: Searches returned 10,401 studies and following independent screening by two reviewers, nine studies were included in this meta-synthesis. Data were synthesised and categorised into four key themes: (1) Improved care; (2) Communication; (3) Technology feasibility & acceptability; and (4) Intervention concerns. Most patients using patient remote devices felt motivated in managing their own lifestyles and felt reassured by the close monitoring and increased communication. Barriers identified involved generational differences and difficulties with the technology used. CONCLUSION: Most studies showed a positive attitude to telemonitoring, with patients preferring the convenience of telemonitoring in comparison to attending regular clinics. Further research is required to assess the most effective technology for chronic disease management, how to maintain long-term patient adherence, and identify effective approaches to address generational variation in telemonitoring up-take.
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Enfermedades Cardiovasculares , Diabetes Mellitus Tipo 2 , Enfermedad Pulmonar Obstructiva Crónica , Automanejo , Humanos , Enfermedad CrónicaRESUMEN
Atrial fibrillation (AF) is the most common form of cardiac arrhythmia, affecting 2%-3% of the world's population. Mental and emotional stress, as well as some mental health conditions (e.g., depression) have been shown to significantly impact the heart and have been suggested to act both as independent risk factors and triggers in the onset of AF. In this paper, we review the current literature to examine the role that mental and emotional stress have in the onset of AF and summarise the current knowledge on the interaction between the brain and heart, and the cortical and subcortical pathways involved in the response to stress. Review of the evidence suggests that mental and emotional stress negatively affect the cardiac system, potentially increasing the risk for developing and/or triggering AF. Further studies are required to further understand the cortical and sub-cortical structures involved in the mental stress response and how these interact with the cardiac system, which may help in defining new strategies and interventions to prevent the development of, and improve the management of AF.
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The inadequate dietary intake of Vitamin D and Vitamin K is an easily reversible factor favoring IBD-associated bone loss, but data on Vitamin K are lacking. A 28-item quantitative food frequency questionnaire was administered to 193 IBD patients (89 Crohn's disease and 104 ulcerative colitis), and 199 controls. Patients' demographics, clinical and laboratory findings were analyzed in relation to recommended daily allowances. VitD intake was inadequate both in the IBD and control patients (8.3 ± 4.5 µg/day in IBD, 53.1% RDA, and 9.7 ± 5.9 µg/day, 63.2% RDA, respectively). Conversely, the mean ViK intake was less than adequate in IBD, at 116.7 ± 116.3 µg/day (78.7% RDA), and high in controls, at 203.1 ± 166.9 µg/day (138.8% RDA). Nonetheless, due to marked inter-individual differences, diets were severely lacking VitK in 40% of UC and 49% of CD patients, more so in females and those with active disease. The intake of Vit D was non-significantly lower in colitis than that in Crohn's disease (7.9 vs. 8.7 µg/day). The opposite was observed for VitK (123.5 vs. 107.0 µg/day). Thus, the diet lacks the micronutrients involved in bone wellbeing in a large proportion of IBD patients. While VitD supplementation is the rule, VitK shortages need proactive nutritional intervention.
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Colitis Ulcerosa , Enfermedad de Crohn , Enfermedades Inflamatorias del Intestino , Femenino , Humanos , Vitamina K , Vitamina D , Dieta , Vitaminas , Ingestión de AlimentosRESUMEN
INTRODUCTION: Liquid biopsy, especially when performed by the isolation, expansion, and examination of circulating tumor cells (CTCs) from peripheral blood, has become an innovative and transforming diagnostic tool in Clinical Oncology. The CTCs have already entered the clinical practice as an alternative method to invasive tumor biopsy for detecting postsurgical and/or posttreatment minimal residual disease, to predict cancer recurrence and real-time treatment response. In this context, the retrospective observational project, known as CHARACTEX, has permitted to state that it is possible to exploit blood-based cytologic samples through short-term culture and in vitro CTC expansion. METHODS: This method is based initially on a gradient-sedimentation technique, which impoverishes without completely depriving the obtained sample from the hematological cells, followed by short-term (14 days) in vitro culture and expansion and cytomorphological and flow cytometric analysis to investigate whether the expanded cell population possesses proliferative advantage and fits with criteria, which are consistent to the known primary tumor. RESULTS: The originality of this method is that, apart from the above exposed criteria, there is no selection bias for the isolation of the cells from peripheral blood (like immunomagnetic bead treatment or preliminary immunocytochemistry), which can potentially introduce some limitation to the cell population under evaluation. CONCLUSION: The examination of the expanded cell population obtained by this method is very rewarding for both the pathologist - who can assess multiple tumor-related variables (like immunocytochemistry, flow cytometry of several parameters, and molecular pathology on cell suspensions and cell blocks obtained from them) - and the clinician.
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Células Neoplásicas Circulantes , Humanos , Citometría de Flujo , Inmunohistoquímica , Células Neoplásicas Circulantes/patología , Estudios RetrospectivosRESUMEN
BACKGROUND: The present study focuses on assessing the physical activity level of children with Fontan circulation for Hypoplastic Left Heart Syndrome and identifying potential barriers and facilitators toward their participation in physical activity. PATIENTS AND METHODS: Seven children aged 5-16 years (mean (SD) 8.8 (3.7) years) with a Fontan procedure for hypoplastic left heart syndrome, their parents (n = 7), and siblings (n = 1) were recruited. Data were collected using a mixed-methods approach: (i) children wore an activity monitor for 7 days to record physical activity, with sedentary time and level of activity calculated from accelerometer data; (ii) children completed a bespoke questionnaire recording limitations in physical activity; (iii) parents completed a semi-structured interview discussing perceptions about their child's physical activity participation. Qualitative data were analysed using thematic analysis. RESULTS: Activity monitors data recorded highly active children with a mean (SD) of 153(36) minutes/day spent in moderate-to-vigorous physical activity. Time spent in sedentary behaviour was also high (57.5% of total accelerometer wearing-time). Four key themes relating to parental perceptions of physical activity were identified: (i) A new lease of life -post-Fontan; (ii) Setting limits - managing limitations; (iii) The wider world - how others set limits; and (iv) "I fear the future" - parental concerns. CONCLUSION: Following completion of the Fontan circulation, children engaged in higher levels of physical activity in comparison to the national average. However, more than half their time was spent in sedentary behaviour. Fears and anxiety from parents and teachers may act as a barrier toward physical activity participation.
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Síndrome del Corazón Izquierdo Hipoplásico , Humanos , Niño , Ejercicio Físico , Padres , Conducta Sedentaria , Encuestas y CuestionariosRESUMEN
Purpose: To study the physical, emotional and social impact of clubfoot on the lives of affected children and their families. Methods: A purposive sample of children with treated idiopathic clubfoot and their parents was recruited from two geographical locations-the United Kingdom (UK) and India. Children were divided into age groups of 5-7 and 8-11 years. Questionnaires were administered separately to children and parents; the former comprised multiple-choice questions scored using an 'emoji' system, and the latter included open-ended questions divided into pre-defined themes of daily limitations, social life, general health, emotional barriers and family impact. Results: Thirty-four children and parents participated from UK; 96 children and parents participated from India. The majority of children (> 80%) reported no problems in daily activities, although 32.8% reported having pain. Difficulty finding appropriate footwear and limitation in sports were more common among UK children, whereas difficulty in squatting was more problematic for Indian children. Self and emotional perceptions regarding their appearance/condition were lower among older as compared to younger children in both countries. Parents' responses mirrored those of children; additionally they reported emotional and financial difficulties during initial treatment phase, and ongoing concerns about the future during the maintenance phase. Conclusion: Treated clubfoot continues to impact the lives of affected children and families. Perceptions of the condition and its impact vary between population groups; this needs to be appreciated when collecting and analysing outcomes.
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BACKGROUND: Telemedicine is an expanding and feasible approach to improve medical care for patients with long-term conditions. However, there is a poor understanding of patients' acceptability of this technology and their rate of uptake. OBJECTIVE: The aim of this study was to systematically review the current evidence on telemonitoring in the management of patients with long-term conditions and evaluate the patients' uptake and acceptability of this technology. METHODS: MEDLINE, Scopus, and CENTRAL (the Cochrane Central Register of Controlled Trials) were searched from the date of inception to February 5, 2021, with no language restrictions. Studies were eligible for inclusion if they reported any of the following outcomes: intervention uptake and adherence; study retention; patient acceptability, satisfaction, and experience using the intervention; changes in physiological values; all-cause and cardiovascular-related hospitalization; all-cause and disease-specific mortality; patient-reported outcome measures; and quality of life. In total, 2 reviewers independently assessed the articles for eligibility. RESULTS: A total of 96 studies were included, and 58 (60%) were pooled for the meta-analyses. Meta-analyses showed a reduction in mortality (risk ratio=0.71, 95% CI 0.56-0.89; P=.003; I2=0%) and improvements in blood pressure (mean difference [MD]=-3.85 mm Hg, 95% CI -7.03 to -0.68; P=.02; I2=100%) and glycated hemoglobin (MD=-0.33, 95% CI -0.57 to -0.09; P=.008; I2=99%) but no significant improvements in quality of life (MD=1.45, 95% CI -0.10 to 3; P=.07; I2=80%) and an increased risk of hospitalization (risk ratio=1.02, 95% CI 0.85-1.23; P=.81; I2=79%) with telemonitoring compared with usual care. A total of 12% (12/96) of the studies reported adherence outcomes, and 9% (9/96) reported on satisfaction and acceptance outcomes; however, heterogeneity in the assessment methods meant that a meta-analysis could not be performed. CONCLUSIONS: Telemonitoring is a valid alternative to usual care, reducing mortality and improving self-management of the disease, with patients reporting good satisfaction and adherence. Further studies are required to address some potential concerns regarding higher hospitalization rates and a lack of positive impact on patients' quality of life. TRIAL REGISTRATION: PROSPERO CRD42021236291; https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=236291.
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Calidad de Vida , Telemedicina , Humanos , Telemedicina/métodos , Presión Sanguínea , Hospitalización , Monitoreo Fisiológico/métodosRESUMEN
OBJECTIVE: The purpose of this study was to investigate the presence of Adenovirus, Epstein-Barr virus (EBV), HHV-6 and cytomegalovirus (CMV) nucleic acids in the gastrointestinal biopsies from active CD patients. METHODS: Gastrointestinal biopsies of 40 active CD patients and 40 non-CD patients were collected during the endoscopic investigation of gastrointestinal symptoms. RESULTS: HHV-6B was found in 62.5% of CD patients and in 65% of non-CD individuals, whereas the prevalence of EBV-positive samples was 20 and 10%, respectively. Nucleic acids from HHV-6A, CMV and adenovirus were not detected in any group. CONCLUSION: These data suggest that these viruses may not play a role in the pathogenesis of acute CD, but they do not exclude the possibility that viruses can act as a trigger for the onset of celiac disease.
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Enfermedad Celíaca , Infecciones por Citomegalovirus , Infecciones por Virus de Epstein-Barr , Herpesvirus Humano 6 , Ácidos Nucleicos , Adulto , Biopsia , Enfermedad Celíaca/diagnóstico , Citomegalovirus/genética , Infecciones por Citomegalovirus/diagnóstico , ADN Viral , Herpesvirus Humano 4/genética , Herpesvirus Humano 6/genética , HumanosRESUMEN
The overall estimated risk of recurrence after an apparently complete thyroid cancer resection ranges from <1% to 55%, and the high-quality pathology report is crucial for proper risk stratification. The neck ultrasound (US) and serum thyroglobulin (Tg) and anti-Tg antibody (TgAb) assays are the mainstays for Differentiated Thyroid Cancer (DTC) follow-up. However, the neck US includes a high frequency of nonspecific findings and despite the serum, Tg unmasks the presence of thyrocytes, it is not discriminating between normal and malignant cells. In this study, to improve post-surgery follow-up of minimal residual disease in papillary thyroid cancer (PTC) patients, blood-derived cytology specimens were evaluated for the presence of circulating tumor cells (CTCs). The presence of CTCs of thyroid origin was confirmed by cytomorphological and tissue-specific antigens analysis (Thyroid Transcription Factor-1/TTF-1 and Tg) and proliferative profile (percentage of cells in S-phase). Our data revealed an unfavorable' prognostic risk in patients with >5% CTCs (p = 0.09) and with >30% S-phase cells at baseline (p = 0.0015), predicting ≤1 year relapsing lesion event. These results suggest a new intriguing frontier of precision oncology forefront cytology-based liquid biopsy.
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Carcinoma Papilar , Células Neoplásicas Circulantes , Neoplasias de la Tiroides , Humanos , Cáncer Papilar Tiroideo , Carcinoma Papilar/diagnóstico por imagen , Carcinoma Papilar/cirugía , Neoplasia Residual , Recurrencia Local de Neoplasia , Medicina de Precisión , Neoplasias de la Tiroides/diagnóstico , Neoplasias de la Tiroides/cirugíaRESUMEN
Background: The impact of enzyme replacement therapy (ERT) on cardiomyocytes and intestinal cells, affected by Fabry disease (FD), is still unclear. Methods: Six patients with FD, including five family members with GLA mutation c.666delC and one with GLA mutation c.658C > T, manifesting cardiomyopathy and intestinal symptoms (abdominal pain, diarrhea and malabsorption) were included in the study. Clinical outcome, cardiac magnetic resonance (CMR), endomyocardial and gastro-intestinal biopsies were evaluated before and after 2 years of treatment with agalsidase-α (0.2 mg/kg every other week). Immunohistochemistry and Western blot assessments of mannose-6-phosphate receptors (IGF-II-R) on intestinal and myocardial frozen tissue were obtained at diagnosis and after 2 years of ERT. Results: After ERT left ventricular maximal wall thickness, ranging from pre (<10.5 mm) to mild (<15 mm) and moderate hypertrophy (16 mm), was not associated with significant changes at CMR. Degree of dyspnea, mean cardiomyocyte diameter and % vacuolated areas of cardiomyocytes, representing intracellular GL3, remained unmodified. In contrast, intestinal symptoms improved with disappearance of diarrhea, recovery of anemia and weight gain, correlating with near complete clearance of the enterocytes from GL3 inclusions. IGF-II-R expression was remarkably higher even at histochemistry in intestinal tissue compared with myocardium (p < 0.001) either at baseline and after ERT, thus justifying intestinal recovery. Conclusions: Human cells affected by FD may respond differently to ERT: while cardiomyocytes retain their GL3 content after 2 years of treatment, gastro-intestinal cells show GL3 removal with recovery of function. This divergent response may be related to differences in cellular turnover, as well as tissue IGF-II-R expression.
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PURPOSE: Cleft palate children have a higher incidence of otitis media with effusion, more frequent recurrent acute otitis media episodes, and worse conductive hearing losses than non-cleft children. Nevertheless, data on adenoidectomy for middle ear disease in this patient group are scarce, since many feared worsening of velopharyngeal insufficiency after the procedure. This review aims at collecting the available evidence on this subject, to frame possible further areas of research and interventions. METHODS: A PRISMA-compliant systematic review was performed. Multiple databases were searched with criteria designed to include all studies focusing on the role of adenoidectomy in treating middle ear disease in cleft palate children. After duplicate removal, abstract and full-text selection, and quality assessment, we reviewed eligible articles for clinical indications and outcomes. RESULTS: Among 321 unique citations, 3 studies published between 1964 and 1972 (2 case series and a retrospective cohort study) were deemed eligible, with 136 treated patients. The outcomes were positive in all three articles in terms of conductive hearing loss improvement, recurrent otitis media episodes reduction, and effusive otitis media resolution. CONCLUSION: Despite promising results, research on adenoidectomy in treating middle ear disease in the cleft population has stopped in the mid-Seventies. No data are, therefore, available on the role of modern conservative adenoidectomy techniques (endoscopic and/or partial) in this context. Prospective studies are required to define the role of adenoidectomy in cleft children, most interestingly in specific subgroups such as patients requiring re-tympanostomy, given their known risk of otologic sequelae.
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Fisura del Paladar , Otitis Media con Derrame , Adenoidectomía/métodos , Niño , Fisura del Paladar/cirugía , Humanos , Ventilación del Oído Medio/métodos , Otitis Media con Derrame/etiología , Otitis Media con Derrame/cirugía , Estudios RetrospectivosRESUMEN
Imaging limitations, invasive tissue biopsies and poor information over the course of treatment to evaluate 'real-time' tumor dynamics justify the emerging use of liquid biopsies in the field of brain tumors. Circulating tumor cells (CTCs) from high-grade astrocytomas might reach the circulation by crossing the blood-brain barrier. Here, for the first time, CTCs cytology in a case of pylocitic astrocytoma is described. An obstructive hydrocephalous due to a lateral mesencephalic tectum mass occluding the Silvio Aqueduct was diagnosed in a young, 18 years old, male. Considering the location of the tumor and the rapid deterioration of the neurological status, it has been decided to urgency treat the patient with ventriculoperitoneal shunting. Magnetic resonance imaging showed a nodular shaped lesion localized within the left lateral mesencephalic tectum. Stereotactic biopsy was not approachable due significant risk of neurological consequences. The diagnosis was performed by blood sampling, a non-invasive procedure for the patient, in order to provide tumor information. Cytopathological features on detected circulating atypical GFAP positive cells led to pilocytic diagnosis confirmed by the patient's 68 months outcome.