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Introduction: The polymorphism of the gene coding mu-opioid receptor (OPRM1) is one of the factors contributing to the variability in the response to opioid analgesics in children. The goal of this study is to investigate its role in association with postoperative acute pain in children of various ages. Methods: This prospective study analyzed 110 pediatric patients, after plastic or orthopedic surgery, who were genotyped and randomly assigned to receive fentanyl or alfentanil. Postoperative pain was rated using Numerical Rating Scale (0-10). All the patients were genotyped forOPRM1 118A>G (rs1799971) gene polymorphism. Results: School children under the age of 11 with the OPRM1 AA genotype were shown to have a higher BMI (p<0.05). Children over the age of 12 carrying G allele OPRM1, had increased postoperative pain sensitivity and intensity (3.28±1.95 vs 4.91±2.17; p<0.05), as compared to AA allele carriers. Discussion: OPRM1 118A>G polymorphism may explain the variation in the perception of postoperative pain in children over the age of 12 and may be a useful predictor for adjusting the dose of analgesics, but the dose is relative to the patient's needs regardless of his genetic characteristics. In younger children, carriers of polymorphic OPRM1 118G allele may be protected from obesity, due to diminished MOP expression.
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OBJECTIVE: To study the demographic and clinical profile of children with suspected physical or sexual abuse. METHODS: Retrospective records of children who were admitted to hospital between January, 2015 to December, 2020 with suspected physical or sexual abuse were evaluated. RESULTS: The records of 52 children [mean (SD) age 12.24 (5.32) y, 39 boys] were retrieved. Contusions were the most common injury in 53.8% of boys and 69.2% of girls. The majority (70%) of 8-18 year-old-children were abused by peers, and parents/caregivers were the main perpetrators in 72.7% of younger children. CONCLUSION: Child abuse is often underreported, and requires a high index of suspicion and multidisciplinary approach of management.
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Abuso Sexual Infantil , Maltrato a los Niños , Adolescente , Niño , Femenino , Humanos , Masculino , Examen Físico , Estudios Retrospectivos , Serbia/epidemiologíaRESUMEN
(1) Background: A Monteggia fracture is an infrequent injury in children. It can be missed during an initial consultation in 20-50% of patients. Chronic radial head dislocation may lead to several complications. Thus, surgical reconstruction of chronic Monteggia injuries is justified. The aim of this study is to analyze the single tertiary center experience in the treatment of neglected Monteggia fractures. (2) Methods: A retrospective study of patients treated for missed Monteggia fractures was conducted. Hospital records, operative charts, follow-up records and a set of X-rays were analyzed for each patient. Radiographic results were graded as good, moderate or poor. The functional status of elbows was estimated using the Mayo Elbow Performance Index. (3) Results: A total of 13 patients (8 boys and 5 girls) aged 4-12 years (mean 7.15) were treated during the study period. An angulation osteotomy of the ulna was performed in ten patients and a radial shortening osteotomy in three patients. A Bell-Tawse annular ligament reconstruction was performed in five patients, and a direct repair was performed in two patients. Eight patients had radiocapitellar trans-fixation. There were nine good radiographic results, three moderate and one poor. The functional result was excellent in nine patients, good in three and poor in one. (4) Conclusions: Our work has many limitations (only 13 patients and different types of operations), and conclusions should be drawn very carefully from such a small and diverse group. The surgical reconstruction of neglected Monteggia fractures in children should be attempted in all patients. Angulation and elongation osteotomies of the ulna are suitable for most patients. If there is a marked overgrowth of the radius, gradual ulnar lengthening and radial head reduction using the Ilizarov method may be a better option. Annular ligament reconstruction is not mandatory.
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Objectives: We aimed to identify characteristics of juvenile idiopathic arthritis (JIA) patients associated with good self-management skills in the transition readiness process and to investigate the readiness of JIA patients and their families for the transition into the adult healthcare system. Patients and methods: Between March 2021 and June 2021, a total of 44 JIA patients (9 males, 35 females; median age: 15.1 years; range, 12.3 to 19.3 years) admitted to the pediatric rheumatology outpatient and inpatient clinics and their parents were included. Transition Readiness Assessment Questionnaire (TRAQ) was cross-culturally adapted. The TRAQ was administered to all JIA patients and their parents at one point. Demographic and clinical data were collected. Results: Fourteen (31.8%) of 44 JIA patients had a concomitant disease, while 10 (22.7%) of them had uveitis. Eleven (25%) of them had a family history of autoimmune diseases. In total, 21 (47.7%) of JIA patients were receiving biologics. There was a strong correlation between older age and total TRAQ scores among patients (ρ=0.799, p<0.001) and a moderate correlation between older patient age and total TRAQ scores among parents (ρ=0.522, p<0.001). Patient and parent total TRAQ scores were strongly correlated (ρ=0.653, p<0.001). There was no significant association of JIA patient characteristics (JIA disease subtypes, disease duration, gender, concomitant diseases, uveitis, family history of autoimmune diseases, number of hospitalizations, and treatment with biologics) with TRAQ scores and JIA patients' and parents' readiness for transition. Conclusion: Transition readiness of JIA patients increases with advancing age. There is no significant difference between transition readiness for JIA patients and their parents.
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Ensayos Clínicos como Asunto/métodos , Industria Farmacéutica/organización & administración , Publicaciones Periódicas como Asunto/normas , Publicaciones/normas , Apoyo a la Investigación como Asunto/organización & administración , Estadística como Asunto/educación , Estadística como Asunto/organización & administración , Acceso a la Información , Ensayos Clínicos como Asunto/ética , Industria Farmacéutica/ética , Guías como Asunto , Humanos , Publicaciones Periódicas como Asunto/ética , Publicaciones/ética , Edición/normas , Apoyo a la Investigación como Asunto/ética , Estados UnidosRESUMEN
Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the STrengthening the Reporting of OBservational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modelling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data, and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct, or analysis.
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Estudio de Asociación del Genoma Completo/métodos , Epidemiología Molecular/normas , Proyectos de Investigación , Interpretación Estadística de Datos , Técnicas Genéticas , Genoma Humano , Genotipo , Guías como Asunto , Haplotipos , Humanos , Modelos Genéticos , Modelos Estadísticos , Salud Pública , Sitios de Carácter CuantitativoRESUMEN
Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the STrengthening the Reporting of OBservational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modelling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed, but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct or analysis.
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Enfermedad/genética , Investigación Genética , Estudio de Asociación del Genoma Completo/métodos , Guías como Asunto , Edición/normas , Predisposición Genética a la Enfermedad , Humanos , Proyectos de InvestigaciónRESUMEN
Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modelling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data, and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct, or analysis.
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Enfermedad/genética , Predisposición Genética a la Enfermedad , Genómica , Guías como Asunto , Publicaciones Periódicas como Asunto/normas , HumanosRESUMEN
Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modeling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data, and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct, or analysis.
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Genética de Población , Estudio de Asociación del Genoma Completo/métodos , Genómica/métodos , Modelos Genéticos , Proyectos de Investigación , HumanosRESUMEN
Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information into the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the STrengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modeling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data, and issues of data volume that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct, or analysis.
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Investigación Genética , Guías como Asunto , Edición/normas , Proyectos de InvestigaciónRESUMEN
Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modeling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data, and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct, or analysis.
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Métodos Epidemiológicos , Investigación Genética , Medicina Basada en la Evidencia/métodos , Medicina Basada en la Evidencia/normas , Fenómenos Genéticos , Predisposición Genética a la Enfermedad , Genómica/métodos , Genómica/normas , HumanosRESUMEN
Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence, the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association (STREGA) studies initiative builds on the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modeling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data, and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed, but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct, or analysis.
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Epidemiología/normas , Investigación Genética , Genómica/estadística & datos numéricos , Guías como Asunto , Sesgo , Genética de Población/métodos , Estudio de Asociación del Genoma Completo , Humanos , Edición/normas , Investigación/normasRESUMEN
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant disorder caused by germline mutations in DNA mismatch repair (MMR) genes. Insulin-like growth factor-I (IGF-I) is involved in colorectal carcinogenesis, and elevated plasma IGF-I levels are associated with sporadic colorectal cancer (CRC) risk. We investigated the relationship between IGF1 promoter cytosine-adenine (CA) dinucleotide-repeat polymorphism length and CRC risk in 121 MMR gene mutation carriers using Cox regression and Kaplan-Meier analysis. All statistical tests were two-sided. Time to onset for CRC increased for each decrease in CA-repeat number (median = 19 repeats, range = 12-22 repeats; hazard ratio [HR] = 1.17, 95% confidence interval [CI] = 1.05 to 1.31; P = .006). Patients carrying a CA(< or = 17) repeat allele had a statistically significantly higher CRC risk (HR = 2.36; 95% CI = 1.28 to 4.36; P = .006) than all others and were younger at onset (44 years versus 56.5 years; P = .023). These findings indicate a statistically significant association between shorter IGF1 CA-repeat lengths and increased risk for CRC in HNPCC. This is the first report, to our knowledge, to show that IGF1 variant genotypes modify risk of a hereditary form of cancer.
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Neoplasias Colorrectales Hereditarias sin Poliposis/genética , Factor I del Crecimiento Similar a la Insulina/genética , Polimorfismo Genético , Adenina , Adulto , Anciano , Anciano de 80 o más Años , Intervalos de Confianza , Citosina , Femenino , Genes bcl-1 , Humanos , Masculino , Persona de Mediana Edad , Mutación , Oportunidad Relativa , Modelos de Riesgos Proporcionales , Proyectos de Investigación , Factores de Riesgo , Análisis de SupervivenciaRESUMEN
Activation of the Ras-MAPK signal transduction pathway is necessary for biological responses both to growth factors and ECM. Here, we provide evidence that phosphorylation of S298 of MAPK kinase 1 (MEK1) by p21-activated kinase (PAK) is a site of convergence for integrin and growth factor signaling. We find that adhesion to fibronectin induces PAK1-dependent phosphorylation of MEK1 on S298 and that this phosphorylation is necessary for efficient activation of MEK1 and subsequent MAPK activation. The rapid and efficient activation of MEK and phosphorylation on S298 induced by cell adhesion to fibronectin is influenced by FAK and Src signaling and is paralleled by localization of phospho-S298 MEK1 and phospho-MAPK staining in peripheral membrane-proximal adhesion structures. We propose that FAK/Src-dependent, PAK1-mediated phosphorylation of MEK1 on S298 is central to the organization and localization of active Raf-MEK1-MAPK signaling complexes, and that formation of such complexes contributes to the adhesion dependence of growth factor signaling to MAPK.