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High levels of parenting stress have been detected in mothers of children with Autism (ASD) and children with attention deficit hyperactivity disorder (ADHD) comparing with mothers of typically developing (TD) children. The current study explored the implications of social support (confidant and affective support) and child characteristics (emotional, behavioral and sleep problems) on parenting stress in ASD and ADHD. Furthermore, the differences between mothers of children with autism, ADHD and TD on the studied variables were examined.A total of 120 mothers of 30 TD children, 47 with ASD without intellectual disability and 43 with ADHD collaborated in the study. Significant differences were found between clinical and TD groups in parenting stress, social support, and child characteristics.Correlation analysis in the group with ADHD revealed that parental stress correlated significantly with social support and with children's emotional problems. In the ASD group, parental stress also correlated significantly with children's sleep and behavioral problems. Moreover, multiple regressions showed that confidant support was a significant predictor of parenting stress in both clinical groups.The findings provide new insights to consider social support as a fundamental part of treatments for parenting stress in mothers of children with ASD and ADHD.
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Objetivo: Evaluar las propiedades psicométricas del Cuestionario pediátrico de calidad de vida (PedsQLTM 3.0) Módulo Neuromuscular, versión en español para Argentina, en niños entre 2 y 18 años con enfermedades neuromusculares. Población y métodos: Estudio observacional, analítico, prospectivo, de validación, realizado en el Hospital Garrahan entre el 19 de marzo de 2019 y el 9 de marzo de 2020. A los 10-15 días se realizó el retest del cuestionario para validar en los pacientes que reportaron estabilidad. Resultados: Participaron 185 niños y sus padres. Sobre la factibilidad de la herramienta, los participantes comprendieron fácilmente su contenido. La confiabilidad resultó aceptable, con una consistencia interna de 0,82 en niños y 0,87 en padres y un coeficiente de correlación intraclase en el retest de 0,70 en niños y 0,82 en familiares. Sobre la validez del constructo se confirmaron 8 de 11 hipótesis establecidas (72,7 %). Conclusión: El cuestionario fue validado en sus propiedades psicométricas
Objective: To assess the psychometric properties of the Pediatric Quality of Life Inventory™ (PedsQL™ 3.0), Neuromuscular Module, version in Spanish for Argentina, for children aged 2-18 years with neuromuscular disease. Population and methods: Observational, analytical, prospective validation study conducted in Hospital Garrahan between March 19th, 2019 and March 9th, 2020. The retest questionnaire was administered 10-15 days later to validate it among patients who reported a stable condition. Results: A total of 185 children and their parents participated. In terms of the questionnaire's feasibility, its content was easily understood by participants. Its reliability was acceptable, with an internal consistency of 0.82 among children and 0.87 among parents and a retest intraclass correlation coefficient of 0.70 among children and 0.82 among parents. In relation to the construct validity, 8 of the 11 hypotheses established (72.7 %) were confirmed. Conclusion: The questionnaire's psychometric properties were validated.
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Adult , Quality of Life , Surveys and Questionnaires , Neuromuscular Diseases , Argentina , Psychometrics/methods , Prospective Studies , Reproducibility of Results , Neuromuscular Diseases/psychologyABSTRACT
OBJECTIVE: To assess the psychometric properties of the Pediatric Quality of Life Inventory™ (PedsQL™ 3.0), Neuromuscular Module, version in Spanish for Argentina, for children aged 2-18 years with neuromuscular disease. POPULATION AND METHODS: Observational, analytical, prospective validation study conducted in Hospital Garrahan between March 19th, 2019 and March 9th, 2020. The retest questionnaire was administered 10-15 days later to validate it among patients who reported a stable condition. RESULTS: A total of 185 children and their parents participated. In terms of the questionnaire's feasibility, its content was easily understood by participants. Its reliability was acceptable, with an internal consistency of 0.82 among children and 0.87 among parents and a retest intraclass correlation coefficient of 0.70 among children and 0.82 among parents. In relation to the construct validity, 8 of the 11 hypotheses established (72.7 %) were confirmed. CONCLUSION: The questionnaire's psychometric properties were validated.
Objetivo: Evaluar las propiedades psicométricas del Cuestionario pediátrico de calidad de vida (PedsQLTM 3.0) Módulo Neuromuscular, versión en español para Argentina, en niños entre 2 y 18 años con enfermedades neuromusculares. Población y métodos: Estudio observacional, analítico, prospectivo, de validación, realizado en el Hospital Garrahan entre el 19 de marzo de 2019 y el 9 de marzo de 2020. A los 10-15 días se realizó el retest del cuestionario para validar en los pacientes que reportaron estabilidad. Resultados: Participaron 185 niños y sus padres. Sobre la factibilidad de la herramienta, los participantes comprendieron fácilmente su contenido. La confiabilidad resultó aceptable, con una consistencia interna de 0,82 en niños y 0,87 en padres y un coeficiente de correlación intraclase en el retest de 0,70 en niños y 0,82 en familiares. Sobre la validez del constructo se confirmaron 8 de 11 hipótesis establecidas (72,7 %). Conclusión: El cuestionario fue validado en sus propiedades psicométricas.
Subject(s)
Quality of Life , Adolescent , Adult , Argentina , Child , Child, Preschool , Humans , Psychometrics , Reproducibility of Results , Surveys and QuestionnairesABSTRACT
Ewing sarcoma (EwS) is an aggressive tumor that affects adolescents and young adults. EwS is defined by a chromosomal translocation, EWSR1-FLI1 being the most common, that causes genome reprogramming through remodeling of enhancers. Here, we describe an unexpected function of RING1B, which is highly expressed in EwS. While retaining its repressive activity at Polycomb developmental regulated genes, RING1B colocalizes with EWSR1-FLI1 at active enhancers. We demonstrate that RING1B is necessary for the expression of key EWSR1-FLI1 targets by facilitating oncogene recruitment to their enhancers. Knockdown of RING1B impairs growth of tumor xenografts and expression of genes regulated by EWSR1-FLI1 bound enhancers. Pharmacological inhibition of AURKB with AZD1152 increases H2Aub levels causing down-regulation of RING1B/EWSR1-FLI1 common targets. Our findings demonstrate that RING1B is a critical modulator of EWSR1-FLI1-induced chromatin remodeling, and its inhibition is a potential therapeutic strategy for the treatment of these tumors.
Subject(s)
Chromatin , Sarcoma, Ewing , Adolescent , Carcinogenesis , Cell Line, Tumor , Cell Transformation, Neoplastic , Chromatin/genetics , Chromatin Assembly and Disassembly , Gene Expression Regulation, Neoplastic , Humans , Oncogene Proteins, Fusion/genetics , RNA-Binding Protein EWS/genetics , Sarcoma, Ewing/drug therapy , Sarcoma, Ewing/genetics , Young AdultABSTRACT
Autistic Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by persistent difficulties in communication and social interaction along with a restriction in interests and the presence of repetitive behaviors. The development and use of augmented reality technology for autism has increased in recent years. However, little is known about the impact of these virtual reality technologies on clinical health symptoms. The aim of this systematic review was to investigate the impact of augmented reality through social, cognitive, and behavioral domains in children and adolescents with autism. This study is the first contribution that has carried out an evidence-based systematic review including relevant science databases about the effectiveness of augmented reality-based intervention in ASD. The initial search identified a total of 387 records. After the exclusion of papers that are not research studies and are duplicated articles and after screening the abstract and full text, 20 articles were selected for analysis. The studies examined suggest promising findings about the effectiveness of augmented reality-based treatments for the promotion, support, and protection of health and wellbeing in children and adolescents with autism. Finally, possible directions for future work are discussed.
Subject(s)
Augmented Reality , Autism Spectrum Disorder , Autistic Disorder , Virtual Reality , Adolescent , Autism Spectrum Disorder/therapy , Child , Communication , HumansABSTRACT
A caries-epidemiological study using the ICDASepi-merged system was conducted in Colombian young children. This study aimed at associating the time needed for the clinical examination of caries and caries risk in 1 to 5-year-old children according to age and caries risk, and to assess behavior and child pain self-perception during examination according to age. After IRB approval and given parents/caregivers' informed consent, seven trained examiners assessed 1 to 5-year olds in kindergartens under local field conditions. ICDASepi-merged caries experience (depiMEmf) was assessed as follows: Initial-depi (ICDAS 1/2 without air-drying); Moderate-dM (ICDAS 3,4); Extensive-dE (ICDAS 5,6) lesions; due-to-caries fillings-f and missing-m surfaces/teeth. Caries risk was assessed with Cariogram®. Child's behavior (Frankl-Behavior-Rating-Scale) and self-perceived pain (Visual-Analogue-Scale-of-Faces) during examination were evaluated. Clinical examination time was recorded with a stopwatch. A total of 592 children participated (1-yr.: n=31; 2-yrs.: n=96; 3-yrs.: n=155; 4-yrs.: n=209, 5-yrs.: n=101). The depiMEmfs prevalence was of 79.9% and the mean 8.4±10.4. Most were high-caries-risk children (68.9%). The majority (58.9%) showed ≥ positive-behavior and ≤ light-pain self-perception (88.4%). Mean clinical examination time was around 3.5 minutes (216.9±133.9 seconds). For 5-yr. olds it corresponded to 4 minutes (240.4±145.0 seconds) vs. 2 minutes (122.8±80.1 seconds) for 1-yr. olds (Kruskal-Wallis; p=0.00). For high- and low-caries risk children it was around 4.3 minutes (255.7±118.5 seconds) and 3.3 minutes (201.3±129.4 seconds), respectively (ANOVA; p=0.01). This study demonstrates using the ICDAS system in young children is feasible, taking less than 4 minutes for the clinical examination without children behavior/pain self-perception issues.
Subject(s)
Dental Caries/diagnosis , Child Behavior , Child, Preschool , Colombia/epidemiology , Dental Caries/complications , Dental Caries/epidemiology , Humans , Infant , Pain/etiology , Prevalence , Risk FactorsABSTRACT
Abstract A caries-epidemiological study using the ICDASepi-merged system was conducted in Colombian young children. This study aimed at associating the time needed for the clinical examination of caries and caries risk in 1 to 5-year-old children according to age and caries risk, and to assess behavior and child pain self-perception during examination according to age. After IRB approval and given parents/caregivers' informed consent, seven trained examiners assessed 1 to 5-year olds in kindergartens under local field conditions. ICDASepi-merged caries experience (depiMEmf) was assessed as follows: Initial-depi (ICDAS 1/2 without air-drying); Moderate-dM (ICDAS 3,4); Extensive-dE (ICDAS 5,6) lesions; due-to-caries fillings-f and missing-m surfaces/teeth. Caries risk was assessed with Cariogram®. Child's behavior (Frankl-Behavior-Rating-Scale) and self-perceived pain (Visual-Analogue-Scale-of-Faces) during examination were evaluated. Clinical examination time was recorded with a stopwatch. A total of 592 children participated (1-yr.: n=31; 2-yrs.: n=96; 3-yrs.: n=155; 4-yrs.: n=209, 5-yrs.: n=101). The depiMEmfs prevalence was of 79.9% and the mean 8.4±10.4. Most were high-caries-risk children (68.9%). The majority (58.9%) showed ≥ positive-behavior and ≤ light-pain self-perception (88.4%). Mean clinical examination time was around 3.5 minutes (216.9±133.9 seconds). For 5-yr. olds it corresponded to 4 minutes (240.4±145.0 seconds) vs. 2 minutes (122.8±80.1 seconds) for 1-yr. olds (Kruskal-Wallis; p=0.00). For high- and low-caries risk children it was around 4.3 minutes (255.7±118.5 seconds) and 3.3 minutes (201.3±129.4 seconds), respectively (ANOVA; p=0.01). This study demonstrates using the ICDAS system in young children is feasible, taking less than 4 minutes for the clinical examination without children behavior/pain self-perception issues.
Resumo Um estudo epidemiológico de cárie usando o sistema ICDAS foi realizado em crianças pequenas colombianas. O objetivo deste estudo foi associar o tempo necessário para o exame clínico da cárie e o risco de cárie em crianças de 1 a 5 anos de acordo com a idade e o risco de cárie e avaliar a autopercepção do comportamento e da dor na criança durante o exame, de acordo com a idade. Após a aprovação do comitê de ética e do consentimento informado dos pais/responsáveis, sete examinadores treinados avaliaram crianças de 1 a 5 anos em creches em condições locais de campo. A experiência de cárie do ICDAS (depiMEmf) foi avaliada da seguinte forma: Epi-depi inicial (ICDAS 1/2 sem secagem ao ar); Moderado-dM (ICDAS 3,4); lesões extensas de dE (ICDAS 5,6); restaurações devido a cárie -f e superfícies/dentes ausentes-m. O risco de cárie foi avaliado com Cariogram®. O comportamento de crianças (Frankl-Behavior-Rating-Scale) e a autopercepção de dor (Escala Visual-Analógica-de-Rostos) durante o exame foram avaliados. O tempo de exame clínico foi registrado com um cronômetro. 592 crianças participaram (1 ano: n = 31; 2 anos: n = 96; 3 anos: n = 155; 4 anos: n = 209, 5 anos: n = 101 ). A prevalência do depiMEmfs foi de 79,9% e a média de 8,4 ± 10,4. A maioria era de crianças com alto risco de cárie (68,9%). A maioria (58,9%) apresentou ≥ comportamento positivo e ≤ autopercepção de dor leve (88,4%). O tempo médio de exame clínico foi em torno de 3,5 min (216,9 ± 133,9 s). Para crianças de 5 anos, correspondeu a 4 min (240,4 ± 145,0 s) vs. 2 min (122,8 ± 80,1 s) para crianças de 1 ano de idade (Kruskal-Wallis; p = 0,00). Para crianças com alto e baixo risco de cárie, foi em torno de 4,3 min (255,7 ± 118,5 s) e 3,3 min (201,3 ± 129,4 s), respectivamente (ANOVA; p = 0,01). Este estudo demonstra que a utilização do sistema ICDAS em crianças pequenas é viável, levando menos de 4 min para o exame clínico sem problemas de autopercepção de comportamento/ dor em crianças.
Subject(s)
Humans , Infant , Child, Preschool , Dental Caries/diagnosis , Pain/etiology , Child Behavior , Prevalence , Risk Factors , Colombia/epidemiology , Dental Caries/complications , Dental Caries/epidemiologyABSTRACT
Purpose: The classification of medulloblastoma into WNT, SHH, group 3, and group 4 subgroups has become of critical importance for patient risk stratification and subgroup-tailored clinical trials. Here, we aimed to develop a simplified, clinically applicable classification approach that can be implemented in the majority of centers treating patients with medulloblastoma.Experimental Design: We analyzed 1,577 samples comprising previously published DNA methylation microarray data (913 medulloblastomas, 457 non-medulloblastoma tumors, 85 normal tissues), and 122 frozen and formalin-fixed paraffin-embedded medulloblastoma samples. Biomarkers were identified applying stringent selection filters and Linear Discriminant Analysis (LDA) method, and validated using DNA methylation microarray data, bisulfite pyrosequencing, and direct-bisulfite sequencing.Results: Using a LDA-based approach, we developed and validated a prediction method (EpiWNT-SHH classifier) based on six epigenetic biomarkers that allowed for rapid classification of medulloblastoma into the clinically relevant subgroups WNT, SHH, and non-WNT/non-SHH with excellent concordance (>99%) with current gold-standard methods, DNA methylation microarray, and gene signature profiling analysis. The EpiWNT-SHH classifier showed high prediction capacity using both frozen and formalin-fixed material, as well as diverse DNA methylation detection methods. Similarly, we developed a classifier specific for group 3 and group 4 tumors, based on five biomarkers (EpiG3-G4) with good discriminatory capacity, allowing for correct assignment of more than 92% of tumors. EpiWNT-SHH and EpiG3-G4 methylation profiles remained stable across tumor primary, metastasis, and relapse samples.Conclusions: The EpiWNT-SHH and EpiG3-G4 classifiers represent a new simplified approach for accurate, rapid, and cost-effective molecular classification of single medulloblastoma DNA samples, using clinically applicable DNA methylation detection methods. Clin Cancer Res; 24(6); 1355-63. ©2018 AACR.
Subject(s)
Biomarkers, Tumor , Cerebellar Neoplasms/diagnosis , Cerebellar Neoplasms/genetics , Genetic Association Studies , Genetic Predisposition to Disease , Medulloblastoma/diagnosis , Medulloblastoma/genetics , Biopsy , CpG Islands , DNA Methylation , Epigenesis, Genetic , Epigenomics/methods , Female , Gene Expression Profiling , Humans , Male , Reproducibility of ResultsABSTRACT
Neuroblastoma (NB) is one of the most frequently occurring extracranial solid tumors of childhood (Maris et al., 2007 [1]; Brodeur, 2003 [2]). Probability of cure varies according to patient's age, extent of disease and tumor biology (Maris et al., 2007 [1]; Brodeur, 2003 [2]; Cohn et al., 2009 [3]). However, the etiology of this developmental tumor is unknown. Recent evidence has shown that pediatric solid tumors, including NB, harbor a paucity of recurrent genetic mutations, with a significant proportion of recurrent events converging on epigenetic mechanisms (Cheung et al., 2012 [4]; Molenaar et al., 2012 [5]; Pugh et al., 2013 [6]; Sausen et al., 2013 [7]. We have analyzed the DNA methylome of neuroblastoma using high-density microarrays (Infinium Human Methylation 450k BeadChip) to define the epigenetic landscape of this pediatric tumor and its potential clinicopathological impact. Here, we provide the detail of methods and quality control parameters of the microarray data used for the study. Methylation data has been deposited at NCBI Gene Expression Omnibus data repository, accession number GSE54719; superseries record GSE54721.
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AIM: To define the DNA methylation landscape of neuroblastoma and its clinicopathological impact. MATERIALS & METHODS: Microarray DNA methylation data were analyzed and associated with functional/regulatory genome annotation data, transcriptional profiles and clinicobiological parameters. RESULTS: DNA methylation changes in neuroblastoma affect not only promoters but also intragenic and intergenic regions at cytosine-phosphate-guanine (CpG) and non-CpG sites, and target functional chromatin domains of development and cancer-related genes such as CCND1. Tumors with diverse clinical risk showed differences affecting CpG and, remarkably, non-CpG sites. Non-CpG methylation observed essentially in clinically favorable cases was associated with the differentiation status of neuroblastoma and expression of key genes such as ALK. CONCLUSION: This epigenetic fingerprint of neuroblastoma provides new insights into the pathogenesis and clinical behavior of this pediatric tumor.
Subject(s)
Brain Neoplasms/genetics , Cyclin D1/genetics , Epigenesis, Genetic , Gene Expression Regulation, Neoplastic , Neuroblastoma/genetics , Receptor Protein-Tyrosine Kinases/genetics , Anaplastic Lymphoma Kinase , Brain Neoplasms/diagnosis , Brain Neoplasms/metabolism , Brain Neoplasms/mortality , Cell Line, Tumor , Child , Child, Preschool , Chromatin/chemistry , Chromatin/metabolism , CpG Islands , Cyclin D1/metabolism , DNA Fingerprinting , DNA Methylation , DNA, Intergenic , Female , Gene Expression Profiling , Genome, Human , Humans , Infant , Male , Neuroblastoma/diagnosis , Neuroblastoma/metabolism , Neuroblastoma/mortality , Oligonucleotide Array Sequence Analysis , Prognosis , Promoter Regions, Genetic , Receptor Protein-Tyrosine Kinases/metabolism , Survival AnalysisABSTRACT
Dental caries is an infectious disease which still constitutes a public health concern. It begins at an early age and is caused mainly Streptococcus mutans (S. mutans). The aim of this study was to characterize the salivary humor immune response to S. mutans proteins in patients with caries, with history of caries and without caries, in order to determine which S. mutans proteins participate in the immunological response in subjects with different caries experience. Saliva was collected by spontaneous salivation for 5 minutes from 60 subjects aged 18 to 30 years, classified according to their caries experience as: without caries (Group I), with active caries (Group II) and with history of caries (Group III). The antigens derived from S. mutans by sonication were recognized by salivary IgA and IgG by Western Blot. The results showed that all the individuals studied recognized S. mutans proteins with molecular weights in the range of 8 to 191 kDa, with similar recognition profiles for salivary IgA and IgG. Subjects without caries recognized the 29 kDa protein, also known as S. mutans Antigen A, via salivary IgA, differing from patients with caries and history of caries, who recognized it via IgG. The protective response against S. mutans is mediated by IgA. To conclude, a differential response to the 29 kDa protein between study individuals may be indicative of resistance to dental caries and may have a protective role in the induction of IgA antibodies against dental caries, as found in the group without caries, in contrast to subjects with active caries and history of caries.
Subject(s)
Streptococcus mutans , Antibodies, Bacterial , Dental Caries , Humans , Immunoglobulin A , Immunoglobulin G , SalivaABSTRACT
Dental caries is an infectious disease which still constitutes a public health concern. It begins at an early age and is caused mainly Streptococcus mutans (S. mutans). The aim of this study was to characterize the salivary humor immune response to S. mutans proteins in patients with caries, with history of caries and without caries, in order to determine which S. mutans proteins participate in the immunological response in subjects with different caries experience. Saliva was collected by spontaneous salivation for 5 minutes from 60 subjects aged 18 to 30 years, classified according to their caries experience as: without caries (Group I), with active caries (Group II) and with history of caries (Group III). The antigens derived from S. mutans by sonication were recognized by salivary IgA and IgG by Western Blot. The results showed that all the individuals studied recognized S. mutans proteins with molecular weights in the range of 8 to 191 kDa, with similar recognition profiles for salivary IgA and IgG. Subjects without caries recognized the 29 kDa protein, also known as S. mutans Antigen A, via salivary IgA, differing from patients with caries and history of caries, who recognized it via IgG. The protective response against S. mutans is mediated by IgA. To conclude, a differential response to the 29 kDa protein between study individuals may be indicative of resistance to dental caries and may have a protective role in the induction of IgA antibodies against dental caries, as found in the group without caries, in contrast to subjects with active caries and history of caries.
La caries dental es una enfermedad infecciosa que continua siendo un problema de salud publica, inicia a temprana edad y es causada principalmente por Streptococcus mutans (S. mutans). El objetivo de este estudio fue caracterizar la respuesta inmune humoral salival, ante las proteinas de S. mutans, en pacientes con caries, historia de caries e individuos libres de caries, para asi establecer que proteinas de S. mutans participan en la respuesta inmunologica en los diferentes estadios de caries. La saliva de 60 individuos entre 18 y 30 anos de edad, clasificados de acuerdo al estado de caries: libres de caries (grupo I), caries activa (grupo II) e historia de caries (grupo III), se colecto por salivacion espontanea durante 5 minutos. Los antigenos derivados de S. mutans por sonicacion, fueron reconocidos por IgA e IgG salivales por Western Blot. Los resultados mostraron que todos los individuos estudiados reconocen las proteinas de S. mutans en el rango de 8 a 191 kDa de peso molecular con perfiles de reconocimiento similares para IgA e IgG salival. Se encontro que los sujetos libres de caries reconocen por IgA salival la proteina de 29 kDa, tambien llamada Antigeno A de S. mutans, de manera diferente que los pacientes con caries e historia de caries quienes reconocieron la proteina via IgG. La respuesta protectora frente a S. mutans es mediada por IgA. En conclusion, una respuesta diferencial a la proteina de 29 kDa entre los individuos estudiados, puede ser indicativo de resistencia a la caries dental y tener un papel protector en la induccion de anticuerpos IgA frente a la caries dental, como se encontro en el grupo libre de caries, a diferencia de los sujetos con historia de caries y caries activa.
Subject(s)
Humans , Streptococcus mutans , Saliva , Immunoglobulin A , Immunoglobulin G , Dental Caries , Antibodies, BacterialABSTRACT
Neuroblastoma (NB) pathogenesis has been reported to be closely associated with numerous genetic alterations. However, underlying DNA methylation patterns have not been extensively studied in this developmental malignancy. Here, we generated microarray-based DNA methylation profiles of primary neuroblastic tumors. Stringent supervised differential methylation analyses allowed us to identify epigenetic changes characteristic for NB tumors as well as for clinical and biological subtypes of NB. We observed that gene-specific loss of DNA methylation is more prevalent than promoter hypermethylation. Remarkably, such hypomethylation affected cancer-related biological functions and genes relevant to NB pathogenesis such as CCND1, SPRR3, BTC, EGF and FGF6. In particular, differential methylation in CCND1 affected mostly an evolutionary conserved functionally relevant 3' untranslated region, suggesting that hypomethylation outside promoter regions may play a role in NB pathogenesis. Hypermethylation targeted genes involved in cell development and proliferation such as RASSF1A, POU2F2 or HOXD3, among others. The results derived from this study provide new candidate epigenetic biomarkers associated with NB as well as insights into the molecular pathogenesis of this tumor, which involves a marked gene-specific hypomethylation.
Subject(s)
DNA Methylation/genetics , Genes, Neoplasm/genetics , Neuroblastoma/genetics , Child , Child, Preschool , Cyclin D1/genetics , Cyclin D1/metabolism , Gene Expression Profiling , Gene Expression Regulation, Neoplastic , Humans , Infant , Infant, Newborn , Reproducibility of Results , Sequence Analysis, DNA , TemperatureABSTRACT
We report the case of a 65-year-old woman who was treated with low-molecular-weight heparin and suffered spontaneous rupture of an ovarian cystadenocarcinoma. We present the computed tomography findings and make a review of the literature. Spontaneous hemoperitoneum is an infrequent complication of ovarian neoplasms and, to the best of our knowledge, this is the first-described case report of peritoneal bleeding secondary to a cystadenocarcinoma in the recent English literature.
Subject(s)
Adenocarcinoma/complications , Adenocarcinoma/pathology , Hemoperitoneum/etiology , Ovarian Neoplasms/complications , Ovarian Neoplasms/pathology , Aged , Anticoagulants/therapeutic use , Female , Heart Failure/drug therapy , Heparin, Low-Molecular-Weight/therapeutic use , Humans , Rupture, Spontaneous , Tomography, X-Ray ComputedABSTRACT
Streptococcus mutans (S. mutans) is the main etiological agent in dental caries. Its virulence factors are the proteins PAc and glucosyltransferase (GTF), which are related to its physiopathogenia and have been used in research for a dental caries vaccine. It was reported that using experimental animal models, GTF-I(1301-1322) synthetic peptide from the GLU region of the GTFs has Tepitopes, induces production of serum antibodies in saliva and reduces the presence of caries, but little is known about the cellular response in naturally sensitized humans. The aim of this study was to observe whether GTF-I(1301-1322) peptide is capable of activating CD4+ T cells in PBMC from naturally sensitized humans, to classify the response and to establish the relationship with dental caries. The study was conducted on 30 individuals classified into the following 3 groups: active caries (AC), History of Caries (HC), and free of caries (H). A blood sample was drawn from each individual. Specific antigen stimulation and flow cytometry analyses were used to determine cells producing the cytokines IFN-gamma (type 1 cytokine) and IL-13 (type 2 cytokine). Cell memory response to GTF-I(1301-1322) peptide was found in naturally sensitized humans. Three different responses were detected: TH0, TH1, and NR. The percentage of CD4+ T cells producing the cytokines IFN-gamma (type 1 cytokine) was greater than the percentage producing IL-13 (p=0.006). No statistically significant differences were found among the three groups for the other variables studied (p < or = 0.05). In conclusion, specific cellular immune responses against the GTF-I(1301-1322) peptide of S. mutans does not differ between individuals who are naturally sensitized, caries- resistant or with caries.
Subject(s)
Bacterial Proteins/immunology , CD4-Positive T-Lymphocytes/immunology , Cytokines/immunology , Dental Caries/immunology , Adolescent , Adult , Antigens, CD/immunology , Antigens, Differentiation, T-Lymphocyte/immunology , CD28 Antigens/immunology , Dental Caries/microbiology , Humans , Immunization , Immunologic Memory , Integrin alpha4/immunology , Interferon-alpha/immunology , Interleukin-13/analysis , Lectins, C-Type , Leukocytes, Mononuclear/immunology , Lymphocyte Activation/immunology , Peptide Fragments/immunology , T-Lymphocytes/immunology , Th1 Cells/immunology , Young AdultABSTRACT
Objetivo: El Consentimiento Informado (C.I.) cada vez está más implantado por lo que decidimos estudiar la opinión de los médicos y pacientes sobre él y su proceso de realización. Material y métodos: Estudio observacional, descriptivo y transversal mediante dos encuestas diferentes, de forma personal y telefónica, a 89 profesionales de un Hospital Universitario y a 210 pacientes sometidos a algún procedimiento diagnóstico y/o terapéutico en noviembre de 1998. Se realizó un muestreo aleatorio simple. Los datos fueron analizados mediante la χ2. Resultados: El 25,8% de los profesionales consideran que la utilización de formularios es imprescindible. Aunque el 36% (IC 95%: 26,1-45,9) de los médicos consideran que los pacientes comprenden la información recibida, el 93,4% (IC 95%: 90-96,8) refirieron haberla entendido adecuadamente. El 79,8% (IC 95%: 71,5-88,1) de los médicos refieren ofrecer explicaciones, pero sólo el 44,3% (IC 95%: 37,6-51) de los pacientes confirmaron esta oferta. El 63,3% de los pacientes se quedaron indiferentes tras recibir la información. Según el 61,8% de los profesionales y el 68% de los pacientes, el proceso del C.I. se realiza mediante la lectura del documento por el paciente. Para el 66,7% (IC 95%: 73,1-60,3) de los pacientes el objetivo de los formularios es proteger al médico. Conclusiones: Se encuentran deficiencias en aspectos como la necesidad de los documentos y su utilización, comprensión de los documentos, falta de entrega de los mismos, oferta de explicaciones, persona que lo entrega, proceso de realización, tiempo del que dispone el paciente y objetivo del documento. La información transmitida, en la mayoría de las ocasiones, no causó más ansiedad en los pacientes (AU)
Background: The Informed Consent (I.C.) every time is more implanted so that we decide to study the opinion of the doctors and patient on him and its realization process. Method: The study is observational, descriptive and traverse by means of two surveys (personal and phone) to 89 professionals of a University Hospital and 210 subjected patients to some procedure diagnostic and/or therapeutic in November 1998. It was carried out a simple aleatory sampling. The data were analyzed by means of the χ2. Results: The 25,8% of the professionals considers that the use of formularies is indispensable. Although 36% (CI 95%: 26,1-45,9) of the doctors they consider that the patients understand the received information, 93,4% (CI 95%: 90-96,8) they referred to have her appropriately expert. 79,8% (CI 95%: 71,5-88,1) of the doctors they refer to offer explanations, but only 44,3% (CI 95%: 37,6-51) of the patients they confirmed this offer. 63,3% of the patients was indifferent after receiving the information. According to 61,8% of the professionals and 68% of the patients, the process of the I.C. It is carried out by means of the reading of the document for the patient. For 66,7% (CI 95%: 73,1-60,3) of the patients the objective of the formularies is to protect the doctor. Conclusions: There are some deficiencies in aspects like the necessity of the documents and their use, understanding of the documents, lacks of delivery of them, offer of explanations, person that gives it, realization process, time of which prepares the patient and objective of the document. The transmitted information, in most of the occasions, it didnt cause more anxiety in the patients (AU)
