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1.
Gac Med Mex ; 160(1): 23-31, 2024.
Article in English | MEDLINE | ID: mdl-38753572

ABSTRACT

BACKGROUND: Endothelial dysfunction (ED) suspicion will allow to prevent accelerated atherosclerosis and premature death. OBJECTIVE: To establish the usefulness of thermography for endothelial function screening in adults with cardiovascular risk factors. MATERIAL AND METHODS: Cross-sectional, analytical diagnostic test. A brachial arterial diameter (BAD) increase < 11% at one-minute post-ischemia meant probable ED and was confirmed if BAD was ≥ 11% post-sublingual nitroglycerin. Thermographic photographs of the palmar region were obtained at one minute. Descriptive statistics, ROC curve, Mann-Whitney's U-test, chi-square test, or Fisher's exact test were used. RESULTS: Thirty-eight subjects with a median age of 50 years, and with 624 thermographic measurements were included. Nine had ED (flow-mediated vasodilation [FMV]: 2.5%). The best cutoff point for normal endothelial function in subjects with cardiovascular risk factors was ≥ 36 °C at one minute of ischemia, with 85% sensitivity, 70% specificity, positive and negative predictive values of 78 and 77%, area under the curve of 0.796, LR+ 2.82, LR- 0.22. CONCLUSION: An infrared thermography-measured temperature in the palmar region greater than or equal to 36 °C after one minute of ischemia is practical, non-invasive, and inexpensive for normal endothelial function screening in adults with cardiovascular risk factors.


ANTECEDENTES: La sospecha de disfunción endotelial (DE) permitirá prevenir la aterosclerosis acelerada y la muerte prematura. OBJETIVO: Establecer la utilidad de la termografía en el cribado de la función endotelial en adultos con factores de riesgo cardiovascular. MATERIAL Y MÉTODOS: Estudio transversal analítico de prueba diagnóstica. El incremento del diámetro de la arteria braquial < 11 % a un minuto posisquemia significó probable DE, confirmada si el diámetro fue ≥ 11 % posnitroglicerina sublingual. Se obtuvieron fotografías termográficas al minuto de la región palmar. Se aplicó estadística descriptiva, curva ROC, pruebas U de Mann-Whitney, chi cuadrada o exacta de Fisher. RESULTADOS: Se incluyeron 38 sujetos, mediana de edad de 50 años, con 624 mediciones termográficas; nueve presentaron DE (vasodilatación mediada por flujo de 2.5 %). El mejor punto de corte para la función endotelial normal en sujetos con factores de riesgo cardiovascular fue ≥ 36 °C al minuto de isquemia, con sensibilidad de 85%, especificidad de 70%, valores predictivos positivo y negativo de 78 y 77%, área bajo la curva de 0.796, razón de verisimilitud positiva de 2.82 y razón de verisimilitud negativa de 0.22. CONCLUSIÓN: La medición de la temperatura en la región palmar mediante termografía infrarroja ≥ 36 °C tras un minuto de isquemia es práctica, no invasiva y económica para el cribado de la función endotelial normal en adultos con factores de riesgo cardiovascular.


Subject(s)
Endothelium, Vascular , Thermography , Humans , Thermography/methods , Middle Aged , Male , Female , Cross-Sectional Studies , Endothelium, Vascular/physiopathology , Adult , Aged , Heart Disease Risk Factors , Sensitivity and Specificity , Infrared Rays , Brachial Artery/physiology , Cardiovascular Diseases/diagnosis , Cardiovascular Diseases/physiopathology , Vasodilation/physiology , Predictive Value of Tests
2.
Gac. méd. Méx ; 160(1): 26-35, ene.-feb. 2024. tab, graf
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1557800

ABSTRACT

Resumen Antecedentes: La sospecha de disfunción endotelial (DE) permitirá prevenir la aterosclerosis acelerada y la muerte prematura. Objetivo: Establecer la utilidad de la termografía en el cribado de la función endotelial en adultos con factores de riesgo cardiovascular. Material y métodos: Estudio transversal analítico de prueba diagnóstica. El incremento del diámetro de la arteria braquial < 11 % a un minuto posisquemia significó probable DE, confirmada si el diámetro fue ≥ 11 % posnitroglicerina sublingual. Se obtuvieron fotografías termográficas al minuto de la región palmar. Se aplicó estadística descriptiva, curva ROC, pruebas U de Mann-Whitney, chi cuadrada o exacta de Fisher. Resultados: Se incluyeron 38 sujetos, mediana de edad de 50 años, con 624 mediciones termográficas; nueve presentaron DE (vasodilatación mediada por flujo de 2.5 %). El mejor punto de corte para la función endotelial normal en sujetos con factores de riesgo cardiovascular fue ≥ 36 °C al minuto de isquemia, con sensibilidad de 85%, especificidad de 70%, valores predictivos positivo y negativo de 78 y 77%, área bajo la curva de 0.796, razón de verisimilitud positiva de 2.82 y razón de verisimilitud negativa de 0.22. Conclusión: La medición de la temperatura en la región palmar mediante termografía infrarroja ≥ 36 °C tras un minuto de isquemia es práctica, no invasiva y económica para el cribado de la función endotelial normal en adultos con factores de riesgo cardiovascular.


Abstract Background: Endothelial dysfunction (ED) suspicion will allow to prevent accelerated atherosclerosis and premature death. Objective: To establish the usefulness of thermography for endothelial function screening in adults with cardiovascular risk factors. Material and methods: Cross-sectional, analytical diagnostic test. A brachial arterial diameter (BAD) increase <11 % at one-minute post-ischemia meant probable ED and was confirmed if BAD was ≥ 11 % post-sublingual nitroglycerin. Thermographic photographs of the palmar region were obtained at one minute. Descriptive statistics, ROC curve, Mann-Whitney’s U-test, chi-square test, or Fisher’s exact test were used. Results: Thirty-eight subjects with a median age of 50 years, and with 624 thermographic measurements were included. Nine had ED (flow-mediated vasodilation (FMV): 2.5 %. The best cutoff point for normal endothelial function in subjects with cardiovascular risk factors was ≥ 36 °C at one minute of ischemia, with 85 % sensitivity, 70 % specificity, positive and negative predictive values of 78 and 77 %, area under the curve of 0.796, LR+ 2.82, LR- 0.22. Conclusions: An infrared thermography-measured temperature in the palmar region greater than or equal to 36 °C after one minute of ischemia is practical, non-invasive, and inexpensive for normal endothelial function screening in adults with cardiovascular risk factors.

3.
Front Public Health ; 11: 1067249, 2023.
Article in English | MEDLINE | ID: mdl-37427254

ABSTRACT

Introduction: The healthcare and well-being of the population depend on multiple factors and should adapt to societal changes. The opposite is also occurring; society has evolved concerning the individuals' approach to their care, which includes participation in decision-making processes. In this scenario, health promotion and prevention become crucial to provide an integrated perspective in the organization and management of the health systems.Health status and well-being depend on many aspects, determinants of health, which in turn may be modulated by individual behavior. Certain models and frameworks try to study the determinants of health and individual human behaviors, separately. However, the interrelation between these two aspects has not been examined in our population.Our main objective is to analyze whether personal aptitudes related to behaviors are independently associated with the incidence of morbidity. A secondary objective will enquire whether these personal aptitudes are independently associated with lower all-cause mortality, enhanced adoption of healthy lifestyles, higher quality of life, and lower utilization of health services during follow-up. Methods: This protocol addresses the quantitative branch of a multicenter project (10 teams) for the creation of a cohort of at least 3,083 persons aged 35 to 74 years from 9 Autonomous Communities (AACC). The personal variables to evaluate are self-efficacy, activation, health literacy, resilience, locus of control, and personality traits. Socio-demographic covariates and social capital will be recorded. A physical examination, blood analysis, and cognitive evaluation will be carried out.Several sets of six Cox models (one for each independent variable) will analyze the incidence of morbidity (objective 1); all-cause mortality and the rest of the dependent variables (objective 2). The models will be adjusted for the indicated covariates, and random effects will estimate Potential heterogeneity between AACC. Discussion: The analysis of the association of certain behavioral patterns and determinants of health is essential and will contribute to improving health promotion and prevention strategies. The description of the individual elements and interrelated aspects that modulate the onset and persistence of diseases will allow the evaluation of their role as prognostic factors and contribute to the development of patient-tailored preventive measures and healthcare.Clinical Trial Registration: ClinicalTrials.gov, NCT04386135. Registered on April 30, 2020.


Subject(s)
Aptitude , Quality of Life , Humans , Prospective Studies , Life Style , Health Promotion/methods , Morbidity , Multicenter Studies as Topic
4.
Infect Prev Pract ; 4(4): 100241, 2022 Dec.
Article in English | MEDLINE | ID: mdl-36061570

ABSTRACT

Background: During early stages of COVID-19 pandemic, antimicrobials were commonly prescribed. Aim: To describe clinical, microbiological and antimicrobial use changes in bloodstream infections (BSI) of ICU patients during the first wave of COVID-19 pandemic compared to pre-COVID-19 era. Methods: Observational cohort study of patients admitted to ICU of Bellvitge University Hospital was conducted during the COVID-19 pandemic (March-June 2020) and before COVID-19 pandemic (March-June 2019). Differences in clinical characteristics, antimicrobial consumption and incidence and aetiology of BSI were measured. Findings: COVID-19 patients had significantly less comorbidities with obesity the only risk factor that increased in frequency. COVID-19 patients more frequently required invasive supportive care measures, had longer median ICU stay and higher mortality rates. The incidence of BSIs was higher in COVID-19 period (RR 3.2 [95%CI 2.2-4.7]), occurred in patients who showed prolonged median ICU stay (21days) and was associated with high mortality rate (47%). The highest increases in the aetiological agents were observed for AmpC-producing bacteria (RR 11.1 [95%CI 2.6-47.9]) and non-fermenting rods (RR 7.0 [95%CI 1.5-31.4]). The emergence of bacteraemia caused by Gram-negative rods resistant to amoxicillin-clavulanate, which was used as empirical therapy during early stages of the pandemic, led to an escalation towards broader-spectrum antimicrobials such as meropenem and colistin which was also associated with the emergence of resistant isolates. Conclusions: The epidemiological shift towards resistant phenotypes in critically ill COVID-19 patients was associated with the selective use of antimicrobials. Our study provides evidence of the impact of empirical therapy on the selection of bacteria and their consequences on BSI over the subsequent months.

5.
Vaccine ; 40(18): 2531-2534, 2022 04 20.
Article in English | MEDLINE | ID: mdl-35307228

ABSTRACT

We describe an outbreak of SARS-CoV-2 (B.1.351) in a nursing home. At the outbreak onset 96% of residents and 76% of HCW had received two doses of BNT162b2. Twenty-eight residents (28/53) and six HCW (6/33) were infected. Infected residents had lower levels of anti-S antibodies compared to those who were not infected (157 vs 552 U/mL). Among 50 residents with available serological status, nineteen (19/25) with serum concentration < 300 U/mL and seven (7/25) with concentration > 300 U/mL acquired SARS-CoV-2 (RR 2.7 [95 %CI 1.4-5.3]). The quantification of circulating antibodies could be useful in detecting people with an impaired immune response who are at high risk of acquiring and spreading SARS-CoV-2.


Subject(s)
COVID-19 , SARS-CoV-2 , Antibodies, Viral , BNT162 Vaccine , COVID-19/epidemiology , COVID-19/prevention & control , Humans , Nursing Homes , Vaccination
6.
Gac Med Mex ; 157(6): 604-609, 2021.
Article in English | MEDLINE | ID: mdl-35108253

ABSTRACT

INTRODUCTION: Coronary ectasia has a low prevalence in the general population. Its risk factors may differ from those of coronary artery disease. OBJECTIVE: To identify the prevalence of coronary ectasia in patients with acute myocardial infarction (AMI) and cardiovascular risk factors (CVRFs). METHODS: Retrospective, cross-sectional study. Out of 3,254 cardiac catheterizations for AMI during one year, 2,975 had no coronary ectasia. We included 558 patients with coronary ectasia on coronary angiography and, as controls, subjects with similar characteristics except for coronary ectasia, and CVRFs were recorded. Descriptive statistics, bivariate and multivariate analysis were used; odds ratio (OR) was calculated. RESULTS: 279 patients with and without coronary ectasia were studied. The prevalence of coronary ectasia was 8.5 %. The platelet/lymphocyte ratio (PLR) was higher in patients with ectasia than in those without ectasia (p = 0.003). In the bivariate analysis, associated CVRFs were overweight, obesity and diabetes, and in the multivariate analysis, hypercholesterolemia (OR: 3.90; p = 0.0001) and exposure to herbicides (OR: 6.82; p = 0.020). CONCLUSIONS: A high prevalence of coronary ectasia was found, with the main risk factors being a history of herbicide use and hypercholesterolemia. PLR was found to be elevated in these patients. Early detection is important due to its association with acute coronary events.


INTRODUCCIÓN: La ectasia coronaria tiene baja prevalencia en población general, los factores de riesgo pueden diferir de la enfermedad arterial coronaria. OBJETIVO: Identificar la prevalencia de ectasia coronaria en pacientes con infarto agudo de miocardio (IAM) y factores de riesgo cardiovascular (FRCV). MÉTODOS: Estudio retrospectivo, transversal. De 3,254 cateterismos cardiacos por IAM durante un año, 2,975 no presentaron ectasia coronaria. Se incluyeron 558 pacientes clasificados como portadores de ectasia coronaria en coronariografía y controles aquellos con características similares exceptuando la ectasia coronaria y se registraron los FRCV. Empleamos estadística descriptiva, análisis bivariante, multivariante y calculamos el odds ratio (OR). RESULTADOS: Se estudiaron 279 pacientes con y sin ectasia coronaria. La prevalencia de ectasia coronaria fue del 8.5%. El índice plaqueta/linfocito (IPL) se encontró más elevado en pacientes con ectasia que en aquellos sin ectasia (p = 0.003). En el análisis bivariante los FRCV asociados fueron sobrepeso, obesidad y diabetes, y en el multivariante la hipercolesterolemia (OR: 3.90; p = 0.0001) y exposición a herbicidas (OR: 6.82; p = 0.020). CONCLUSIONES: Encontramos alta prevalencia de ectasia coronaria, los principales factores de riesgo fueron el antecedente de uso de herbicidas e hipercolesterolemia. Identificamos el IPL elevado en estos pacientes. Es importante la detección oportuna debido a su asociación con eventos coronarios agudos.


Subject(s)
Cardiovascular Diseases , Myocardial Infarction , Cross-Sectional Studies , Dilatation, Pathologic/epidemiology , Heart Disease Risk Factors , Humans , Myocardial Infarction/epidemiology , Retrospective Studies , Risk Factors
7.
J. pediatr. (Rio J.) ; 94(2): 123-130, Mar.-Apr. 2018. tab, graf
Article in English | LILACS | ID: biblio-894118

ABSTRACT

Abstract Objective The incidence of abnormal breathing and its consequences on craniofacial development is increasing, and is not limited to children with adenoid faces. The objective of this study was to evaluate the cephalometric differences in craniofacial structures and head posture between nasal breathing and oral breathing children and teenagers with a normal facial growth pattern. Method Ninety-eight 7-16 year-old patients with a normal facial growth pattern were clinically and radiographically evaluated. They were classified as either nasal breathing or oral breathing patients according to the predominant mode of breathing through clinical and historical evaluation, and breathing respiratory rate predomination as quantified by an airflow sensor. They were divided in two age groups (G1: 7-9) (G2: 10-16) to account for normal age-related facial growth. Results Oral breathing children (8.0 ± 0.7 years) showed less nasopharyngeal cross-sectional dimension (MPP) (p = 0.030), whereas other structures were similar to their nasal breathing counterparts (7.6 ± 0.9 years). However, oral breathing teenagers (12.3 ± 2.0 years) exhibited a greater palate length (ANS-PNS) (p = 0.049), a higher vertical dimension in the lower anterior face (Xi-ANS-Pm) (p = 0.015), and a lower position of the hyoid bone with respect to the mandibular plane (H-MP) (p = 0.017) than their nasal breathing counterparts (12.5 ± 1.9 years). No statistically significant differences were found in head posture. Conclusion Even in individuals with a normal facial growth pattern, when compared with nasal breathing individuals, oral breathing children present differences in airway dimensions. Among adolescents, these dissimilarities include structures in the facial development and hyoid bone position.


Resumo Objetivo A incidência da respiração anormal e de suas consequências no desenvolvimento craniofacial aumenta e não é limitada a crianças com fácies adenoideanas. O objetivo deste estudo foi avaliar as diferenças cefalométricas nas estruturas craniofaciais e na postura da cabeça entre crianças e adolescentes com respiração nasal e respiração bucal com padrão de crescimento facial normal. Método 98 pacientes com idades entre 7-16 anos com padrão de crescimento facial normal foram avaliados de forma clínica e radiológica. Eles foram classificados como pacientes com respiração nasal ou respiração bucal de acordo com a predominância do modo de respiração por meio da avaliação clínica e histórica e da predominância da frequência respiratória conforme qualificado por um sensor de fluxo de ar. Os pacientes foram divididos em duas faixas etárias (G1: 7 a 9) (G2: 10 a 16) para contabilizar o crescimento normal facial relacionado à idade. Resultados As crianças com respiração bucal (8,0 ± 0,7 anos) mostraram menor dimensão transversal nasofaríngea (MPP) (p = 0,030), ao passo que outras estruturas foram semelhantes a seus pares com respiração nasal (7,6 ± 0,9 anos). Contudo, os adolescentes com respiração bucal (12,3 ± 2,0 anos) mostraram maior comprimento do palato (espinha nasal anterior-espinha nasal posterior [ENA-ENP]) (p = 0,049), maior dimensão vertical na menor face anterior (Xi-ENA-Pm) (p = 0,015) e menor posição do osso hioide a respeito do plano mandibular (H-PM) (p = 0,017) do que seus pares com respiração nasal (12,5 ± 1,9 anos). Não foram constatadas diferenças estatisticamente significativas na postura da cabeça. Conclusão Mesmo em indivíduos com padrão de crescimento facial normal, em comparação com indivíduos com respiração nasal, as crianças com respiração bucal apresentam diferenças nas dimensões das vias aéreas. Entre os adolescentes, essas dissimilaridades incluem estruturas no desenvolvimento facial e na posição do osso hioide.


Subject(s)
Humans , Male , Female , Child , Posture/physiology , Respiration , Facial Bones/growth & development , Head/growth & development , Mouth Breathing/physiopathology , Cephalometry , Facial Bones/anatomy & histology , Head/anatomy & histology
8.
Med. intensiva (Madr., Ed. impr.) ; 42(1): 5-36, ene.-feb. 2018. graf, tab
Article in English | IBECS | ID: ibc-170812

ABSTRACT

Catheter-related bloodstream infections (CRBSI) constitute an important cause of hospital-acquired infection associated with morbidity, mortality, and cost. The aim of these guidelines is to provide updated recommendations for the diagnosis and management of CRBSI in adults. Prevention of CRBSI is excluded. Experts in the field were designated by the two participating Societies (the Spanish Society of Infectious Diseases and Clinical Microbiology and [SEIMC] and the Spanish Society of Spanish Society of Intensive and Critical Care Medicine and Coronary Units [SEMICYUC]). Short-term peripheral venous catheters, non-tunneled and long-term central venous catheters, tunneled catheters and hemodialysis catheters are covered by these guidelines. The panel identified 39 key topics that were formulated in accordance with the PICO format. The strength of the recommendations and quality of the evidence were graded in accordance with ESCMID guidelines. Recommendations are made for the diagnosis of CRBSI with and without catheter removal and of tunnel infection. The document establishes the clinical situations in which a conservative diagnosis of CRBSI (diagnosis without catheter removal) is feasible. Recommendations are also made regarding empirical therapy, pathogen-specific treatment (coagulase-negative staphylococci, Staphylococcus aureus, Enterococcus spp., Gram-negative bacilli, and Candida spp.), antibiotic lock therapy, diagnosis and management of suppurative thrombophlebitis and local complications (AU)


La bacteriemia relacionada con catéteres (BRC) es una causa importante de infección hospitalaria y se asocia con elevados morbilidad, mortalidad y costes. El objetivo de esta guía de práctica clínica es proporcionar recomendaciones actualizadas para el diagnóstico y tratamiento de la BRC en pacientes adultos. De este documento se excluye la prevención de la BRC. Expertos en la materia fueron designados por las dos Sociedades participantes (Sociedad Española de Enfermedades Infecciosas y Microbiología Clínica y Sociedad Española de Medicina Intensiva, Crítica y Unidades Coronarias). Los catéteres venosos periféricos a corto plazo, los catéteres venosos centrales no tunelizados y de largo plazo, los catéteres tunelizados y los catéteres de hemodiálisis están incluidos en estas guías. El panel identificó 39 temas clave que fueron formulados de acuerdo con el formato PICO. La fuerza de las recomendaciones y la calidad de la evidencia se clasificaron de acuerdo con las directrices de la ESCMID. Se dan recomendaciones para el diagnóstico de BRC con extracción de catéter y sin él, y de la infección en túnel. El documento establece las situaciones clínicas en que es factible un diagnóstico conservador de CRBSI (diagnóstico sin retirada de catéter). También se dan recomendaciones respecto a la terapia empírica, el tratamiento específico según el patógeno identificado (estafilococos coagulasa-negativos, Staphylococcus aureus, Enterococcus spp., bacilos gramnegativos y Candida spp.), la terapia con sellado del catéter y el diagnóstico, así como tratamiento de la tromboflebitis supurativa y las complicaciones locales (AU)


Subject(s)
Humans , Consensus , Bacteremia/diagnosis , Bacteremia/therapy , Catheter-Related Infections/diagnosis , Societies, Medical/standards , Intensive Care Units/standards , Catheter-Related Infections/complications , Catheter-Related Infections/therapy , Blood Culture/methods , Societies, Medical/organization & administration , Critical Care/methods , Critical Care/standards
9.
J Pediatr (Rio J) ; 94(2): 123-130, 2018.
Article in English | MEDLINE | ID: mdl-28818510

ABSTRACT

OBJECTIVE: The incidence of abnormal breathing and its consequences on craniofacial development is increasing, and is not limited to children with adenoid faces. The objective of this study was to evaluate the cephalometric differences in craniofacial structures and head posture between nasal breathing and oral breathing children and teenagers with a normal facial growth pattern. METHOD: Ninety-eight 7-16 year-old patients with a normal facial growth pattern were clinically and radiographically evaluated. They were classified as either nasal breathing or oral breathing patients according to the predominant mode of breathing through clinical and historical evaluation, and breathing respiratory rate predomination as quantified by an airflow sensor. They were divided in two age groups (G1: 7-9) (G2: 10-16) to account for normal age-related facial growth. RESULTS: Oral breathing children (8.0±0.7 years) showed less nasopharyngeal cross-sectional dimension (MPP) (p=0.030), whereas other structures were similar to their nasal breathing counterparts (7.6±0.9 years). However, oral breathing teenagers (12.3±2.0 years) exhibited a greater palate length (ANS-PNS) (p=0.049), a higher vertical dimension in the lower anterior face (Xi-ANS-Pm) (p=0.015), and a lower position of the hyoid bone with respect to the mandibular plane (H-MP) (p=0.017) than their nasal breathing counterparts (12.5±1.9 years). No statistically significant differences were found in head posture. CONCLUSION: Even in individuals with a normal facial growth pattern, when compared with nasal breathing individuals, oral breathing children present differences in airway dimensions. Among adolescents, these dissimilarities include structures in the facial development and hyoid bone position.


Subject(s)
Facial Bones/growth & development , Head/growth & development , Mouth Breathing/physiopathology , Posture/physiology , Respiration , Cephalometry , Child , Facial Bones/anatomy & histology , Female , Head/anatomy & histology , Humans , Male
10.
Neurogenetics ; 16(4): 287-98, 2015 Oct.
Article in English | MEDLINE | ID: mdl-26163108

ABSTRACT

We report a girl with intellectual disability (ID), neuropsychiatric alterations, and a de novo balanced t(10;19)(q22.3;q13.33) translocation. After chromosome sorting, fine mapping of breakpoints by array painting disclosed disruptions of the zinc finger, MIZ-type containing 1 (ZMIZ1) (on chr10) and proline-rich 12 (PRR12) (on chr19) genes. cDNA analyses revealed that the translocation resulted in gene fusions. The resulting hybrid transcripts predict mRNA decay or, if translated, formation of truncated proteins, both due to frameshifts that introduced premature stop codons. Though other molecular mechanisms may be operating, these results suggest that haploinsufficiency of one or both genes accounts for the patient's phenotype. ZMIZ1 is highly expressed in the brain, and its protein product appears to interact with neuron-specific chromatin remodeling complex (nBAF) and activator protein 1 (AP-1) complexes which play a role regulating the activity of genes essential for normal synapse and dendrite growth/behavior. Strikingly, the patient's phenotype overlaps with phenotypes caused by mutations in SMARCA4 (BRG1), an nBAF subunit presumably interacting with ZMIZ1 in brain cells as suggested by our results of coimmunoprecipitation in the mouse brain. PRR12 is also expressed in the brain, and its protein product possesses domains and residues thought to be related in formation of large protein complexes and chromatin remodeling. Our observation from E15 mouse brain cells that a Prr12 isoform was confined to nucleus suggests a role as a transcription nuclear cofactor likely involved in neuronal development. Moreover, a pilot transcriptome analysis from t(10;19) lymphoblastoid cell line suggests dysregulation of genes linked to neurodevelopment processes/neuronal communication (e.g., NRCAM) most likely induced by altered PRR12. This case represents the first constitutional balanced translocation disrupting and fusing both genes and provides clues for the potential function and effects of these in the central nervous system.


Subject(s)
Cell Adhesion Molecules/genetics , Chromosomes, Human, Pair 10 , Chromosomes, Human, Pair 19 , Intellectual Disability/genetics , Transcription Factors/genetics , Animals , Brain/metabolism , Brain/pathology , Child , DNA Helicases/metabolism , Female , Gene Expression , Gene Fusion , Humans , Intracellular Signaling Peptides and Proteins/metabolism , Mice , Nectins , Nuclear Proteins/metabolism , Phenotype , RNA-Binding Proteins , Transcription Factors/metabolism
11.
Fisioterapia (Madr., Ed. impr.) ; 36(5): 207-216, sept.-oct. 2014. graf, tab
Article in Spanish | IBECS | ID: ibc-127651

ABSTRACT

Objetivo: El cuestionario desarrollado en EE. UU. por Jette et al. se emplea como herramienta para estimar las actitudes, las creencias, los conocimientos y los comportamientos hacia la práctica basada en la evidencia (PBE). Este instrumento fue adaptado y validado en lengua española por Guerra et al., pero carece de estudios de validez en población hispana. El objetivo de esta investigación fue estimar las propiedades psicométricas, como forma de obtener evidencias de validez del instrumento para el uso propuesto. Método: La muestra se compone de 1.064 fisioterapeutas de Colombia y que completaron la versión on-line del cuestionario. La fiabilidad y la reproducibilidad fueron estimadas mediante el procedimiento alfa de Cronbach, prueba-reprueba con el coeficiente de correlación intra-clase de Lin y el índice de kappa de Cohen, respectivamente. Se aplicó un análisis factorial exploratorio para analizar la estructura factorial. Resultados: El cuestionario ha mostrado a nivel global alta consistencia interna, moderada estabilidad temporal, aceptable reproducibilidad, apropiada validez de constructo y adecuada bondad de ajuste a una estructura unidimensional. El análisis factorial exploratorio identificó 2 factores que explican el 37,953% de la varianza. Conclusiones: Los resultados obtenidos en este cuestionario avalan la utilización de este instrumento con este tipo de muestra, desde el punto de vista de la fiabilidad y la estructura factorial. No obstante, es necesario realizar nuevos estudios que aporten evidencias de validez basadas en la relación con otras variables, para determinar su utilidad como instrumento de prueba que evalúe la PBE


Objective: The questionnaire developed in the U.S by Jette et al. is used as a screening to olto estimate the attitudes, beliefs, knowledge and behaviors toward evidence-based practice(EBP). This instrument was adapted and validated in the Spanish language by Guerra et al., but lacking validity studies in the Hispanic population. This research has aimed to estimate the psychometric properties as a way to obtain evidence on the validity of the instruments for the use proposed. Method: The sample was made up of 1,064 Physiotherapists in Colombia who completed the on-line version of the questionnaire. Its reliability and reproducibility were estimated with Cronbach’s alpha procedure, the test-retest with Lin’ correlation coefficient and Cohen’s kappaindex, respectively. An exploratory factor analysis was used to analyze the factorial structure. Results: The questionnaire has shown global high internal consistency, moderate temporal stability, acceptable reproducibility, and construct validity appropriate. Exploratory factorial analysis identified two factors that account for 37.953% of the variance. Conclusions: The results obtained in this study support the use of this questionnaire for this type of sample from the viewpoint of reliability and factor structure. However, further studies are needed to provide evidence of validity based on the relationship with other variables to determine its usefulness as a questionnaire to evaluate the EBP


Subject(s)
Humans , Psychometrics/instrumentation , Physical Therapy Modalities , Evidence-Based Practice , Reproducibility of Results , Reproducibility of Results , Health Knowledge, Attitudes, Practice
12.
Clin. transl. oncol. (Print) ; 16(6): 555-560, jun. 2014. tab, ilus
Article in English | IBECS | ID: ibc-127899

ABSTRACT

BACKGROUND: To evaluate the efficacy and toxicity of hyperfractionated radiation therapy and continuous infusion of cisplatin on weeks 1 and 5 in locally advanced head and neck carcinoma. METHODS: There were 53 patients: 3 (5.7 %) T2 patients, 31 T3 patients (58.4 %), and 19 T4 patients (35.8 %). Forty-one patients (77.4 %) were N-positive. According to the AJCC, 40 (75.4 %) patients had stage IV and the rest stage III. Treatment consisted of hyperfractionated radiation therapy, 120 cGy bid to a dose of 76.8-81.6 Gy, and cisplatin 20 mg/m(2)/day administered by continuous infusion over 120 h during days 1-5 and 21-25 of radiation therapy. RESULTS: Tumor response and toxicity There were 40 (75.5 %) complete responses, 6 partial responses (11.3 %), and 5 (9.4 %) non-responses or progression. Two patients were non-evaluable for response due to toxic death. All patients had some acute toxicity grade, the most frequent being mucositis (grade 3-4 in 33 patients) and epithelitis (grade 3-4 in 30 patients). Regarding late toxicity, only 2/24 long-term survivors had tracheostomy, and none of them needed enteral nutrition. Survival and local control With a median follow-up of 66 months, the 5-year overall survival rate for all the series was 49.1 % (95 % CI 58.9-39.3 %) with a median survival duration of 32.83 months. Five-year local control was 68.4 % (95 % CI 81.3-55.5 %). CONCLUSIONS: Hyperfractionated radiation therapy and continuous infusion of cisplatin during weeks 1 and 5 are an active treatment in patients with LAHNC. Nevertheless, new strategies are necessary to increase the local control rates and reduce the incidence of distant metastasis and second tumors (AU)


No disponible


Subject(s)
Humans , Male , Female , Head and Neck Neoplasms/drug therapy , Head and Neck Neoplasms/radiotherapy , Carcinoma , Carcinoma/diagnosis , Head and Neck Neoplasms/diagnosis , Survivorship/physiology , Smoking/mortality
13.
Transl Psychiatry ; 4: e358, 2014 Feb 04.
Article in English | MEDLINE | ID: mdl-24495969

ABSTRACT

To follow-up loci discovered by the International Genomics of Alzheimer's Disease Project, we attempted independent replication of 19 single nucleotide polymorphisms (SNPs) in a large Spanish sample (Fundació ACE data set; 1808 patients and 2564 controls). Our results corroborate association with four SNPs located in the genes INPP5D, MEF2C, ZCWPW1 and FERMT2, respectively. Of these, ZCWPW1 was the only SNP to withstand correction for multiple testing (P=0.000655). Furthermore, we identify TRIP4 (rs74615166) as a novel genome-wide significant locus for Alzheimer's disease risk (odds ratio=1.31; confidence interval 95% (1.19-1.44); P=9.74 × 10(-)(9)).


Subject(s)
Alzheimer Disease/genetics , Genetic Predisposition to Disease , Genome-Wide Association Study , Transcription Factors/genetics , Follow-Up Studies , Genetic Loci/genetics , Humans , Polymorphism, Single Nucleotide/genetics , Spain
14.
Nutr Hosp ; 28(3): 903-13, 2013.
Article in Spanish | MEDLINE | ID: mdl-23848118

ABSTRACT

UNLABELLED: Determine the prevalence of malnutrition in valid adults older than 75 years old in Xinzo (Spain), and study institutionalization as a possible risk factor of malnutrition. METHODS: This is a cross-sectional study of prevalence. SAMPLE: 311 people over 75 years. VARIABLES STUDIED: Age, gender, marital status, education level, institutionalization or not, nutritional status (MNA and anthropometric parameters), social support (Duke- Unc scale), Quality of life (Euro- Quol scale); associated diseases, swallowing problems, type of diet and medications. RESULTS: The median age was 82.55 years (SD: 4.83), 51.8% were women. The 52.7% were married, regarding the educational level, 76.8% had completed the primary education. The 17.4% were institutionalized. The median of pathologies was 3 (SD:1.42 and the number of drugs for individual was 4 (SD:2.44). The 54.70% lived with another family or partner. The median of quality of life was 6.84. According to the results of the MNA did not find any case of malnutrition, but a 20.3% of patients present values of risk. Multivariate analysis found relationship between the presence or not of malnutrition and the institutionalization OR = 0.403 (95% CI: 0.186-0.872), the number of pathologies OR = 1.301 (95% CI: 1.032-1.641), quality of life OR = 1.401 (95% CI: 1.145-1.716). CONCLUSION: Our valid elders are well nourished. The age, a good quality of life and a good support are protective factors. The risk of malnutrition is associated to a higher age, to institutionalization and to higher number of pathologies.


Determinar el estado nutricional de los ancianos de un área de salud rural y ver si la institucionalización es un factor de riesgo. Diseño del estudio: Estudio observacional descriptivo en SAP de Xinzo de Limia 3. Sujetos: El tamaño muestral fue de 311 pacientes mayores de 75 años, seleccionados por muestreo aleatorio simple. Mediciones: Edad, sexo, estado civil, nivel de estudios, institucionalización o no, estado nutricional: valorado mediante el cuestionario MNA y parámetros antropométricos; apoyo social: medido mediante la escala de Duke- Unc; Calidad de vida: con la escala Euro-Quol; patologías asociadas; trastornos de la deglución; tratamiento habitual: tipo de dieta, fármacos. Resultados principales: La mediana de edad era de 82,55 años (DT 4,83 años) y el 51,8% eran mujeres, el 52,7% estaba casado y el 76,8% referían estudios primarios. La mediana de patologías por individuo era del 3 (DT: 1,42) y del número de fármacos usados era de 4 (DT 2,44). El 54,70% vivía acompañado por su pareja u otro familiar. Estaban institucionalizados el 17,4%. La mediana de calidad de vida era de 6,84. Según los resultados del MNA no encontramos ningún caso de desnutrición, pero un 20.3% de los pacientes presentan valores de riesgo. En el análisis multivariante encontramos relación entre la presencia o no de desnutrición y la institucionalización OR = 0,40 (IC 95%, 0,18- 0,87), con el nº de patologías OR = 1,30 (IC 95%, 1,03-1,64), calidad de vida OR = 1,40 (IC 95%, 1,14-1,71). Conclusiones: Los pacientes ancianos validos estudiados presentan un buen estado nutricional. Los pacientes con riesgo de presentar desnutrición son un 20,3%, siendo la institucionalización, los mayores de 85 años con mayor número de patologías los que presentan mayor riesgo de desnutrición. La peor calidad de vida y el menor apoyo social influyen negativamente.


Subject(s)
Institutionalization , Malnutrition/epidemiology , Nutritional Status , Aged, 80 and over , Cross-Sectional Studies , Female , Humans , Male , Prevalence , Risk Factors , Surveys and Questionnaires
16.
BMC Fam Pract ; 12: 50, 2011 Jun 14.
Article in English | MEDLINE | ID: mdl-21672197

ABSTRACT

BACKGROUND: Patient safety is a leading item on the policy agenda of both major international health organizations and advanced countries generally. The quantitative description of the phenomena has given rise to intense concern with the issue in institutions and organizations, leading to a number of initiatives and research projects and the promotion of patient safety culture, with training becoming a priority both in Spain and internationally. To date, most studies have been conducted in a hospital setting, even though primary care is the type most commonly used by the public, in our experience. Our study aims to achieve the following:--Assess the registry of adverse events as an education tool to improve patient safety culture in the Family and Community Teaching Units of Galicia.--Find and analyze educational tools to improve patient safety culture in primary care.--Evaluate the applicability of the Hospital Survey on Patient Safety Culture by the Agency for Healthcare Research and Quality, Spanish version, in the context of primary health care. DESIGN: Experimental unifactorial study of two groups, control and intervention. STUDY POPULATION: Tutors and residents in Family and Community Medicine in last year of studies in Galicia, Spain. SAMPLE: From the population universe through voluntary participation. Twenty-seven tutor-resident units in each group required, randomly assigned. INTERVENTION: Residents and their respective tutor (tutor-resident pair) in teaching units on Family and Community Medicine from throughout Galicia will be invited to participate. Tutor-resident pair that agrees to participate will be sent the Hospital Survey on Patient Safety Culture. Then, tutor-resident pair will be assigned to each group--either intervention or control--through simple random sampling. The intervention group will receive specific training to record the adverse effects found in patients under their care, with subsequent feedback, after receiving instruction on the process. No action will be taken in the control group. After the intervention has ended, the survey will once again be provided to all participants. OUTCOME MEASURES: Change in safety culture as measured by Hospital Survey on Patient Safety CultureCONSORT Extension for Non-Pharmacologic Treatments 2008 was applied. DISCUSSION: The most significant limitations on the project are related to selecting a tool to measure the safety environment, the training calendar of residents in Family and Community Medicine in last year of studies and the no-answer bias inherent to research conducted through self-administered surveys.The development and application of a safety culture in the health sector, specifically in primary care, is as yet limited. Thus, identifying the strengths and weaknesses in the safety environment may assist in designing strategies for improvement in the primary care health centers of our region. TRIAL REGISTRATION: ISRCTN: ISRCTN41911128.


Subject(s)
Community Medicine/education , Family Practice/education , Primary Health Care/standards , Safety Management/standards , Humans , Spain
17.
Clin. transl. oncol. (Print) ; 13(5): 322-327, mayo 2011. tab, ilus
Article in English | IBECS | ID: ibc-124443

ABSTRACT

INTRODUCTION: Anemia is the most common haematological complication in cancer patients. OBJECTIVE: Analysis of the incidence, prevalence and treatment of anemia in oncologic patients treated in Radiation Oncology Departments in Spain (ROD) and monitoring of the existing recommendations for the treatment of anemia. MATERIAL AND METHODS: Observational, prospective, multicenter study which involved 19 Spanish ROD. The study was approved by the CEIC Central Defense Hospital. 477 patients with solid tumors, subsidiary of RT with radical intent referred to such centers within a period of one month (5/5/09 to 5/6/09) and gave their consent to participate in the study. We gathered the main characteristics of patients and their oncologic disease. All patients underwent a determination of Hb levels before RT, upon reaching 25-35 Gy and at the end treatment. In patients with anemia we assessed the existence of related symptoms and its treatment. RESULTS: Basal situation: The prevalence of anemia was 34.8% (166 patients). Mean Hb in patients with anemia was 11.17 ± 1.07 g/dl. Anemia-related symptoms were present in 34% of the patients. Anemia predisposing factors were: stage of the disease, previously received chemotherapy, and hormonal therapy. 39% (66 patients) received anemia treatment, with a mean Hb of 10.43 ± 1.04 g/dl. During RT: The prevalence of anemia was 38.9% (182 patients) with a mean Hb of 11.24 ± 1.21 g/dl. Predisposing factors for anemia during RT treatment were: age, male sex, chemotherapy prior to RT, basal anemia and chemotherapy during RT. 36.3% (66 patients) had anemia-related symptoms. 34.6% (63 patients) with a mean Hb of 10.5 ± 1.37 g/dl received treatment for anemia. The prevalence of anemia at the end of the RT was 38.1% (177 patients) with a mean Hb of 11.19 ± 1.18 g/dl. The predisposing factors for the appearance of anemia at the end of RT were: male sex, anemia at basal situation and during treatment and chemotherapy during RT. 34% (61 patients) had anemia-related symptoms and 73 patients (41.2%) with a mean Hb of 10.5 ± 1.22 g/dl received treatment for anemia. The presence of anemia-related symptoms was significantly correlated with the beginning of treatment for anemia. The incidence of anemia (new cases) during radiotherapy was 17.5%. CONCLUSION: The prevalence of anemia in basal situation, during RT and at the end of RT is 34.8%, 38.9% and 38.1%. During RT the incidence of anemia is 17.5%. 39.8%-41.2% of patients with anemia and 64.2%-68% of patients with anemia-related symptoms received treatment. Treatment of anemia starts with Hb<11 g/dl and the goal is to achieve Hb 12 g/dl. In our Radiotherapy Oncology Departments, the treatment of anemia complies with the current recommendations and guidelines in use (AU)


Subject(s)
Humans , Male , Female , Middle Aged , Aged , Multicenter Studies as Topic/methods , Anemia/epidemiology , Anemia/etiology , Neoplasms/complications , Neoplasms/radiotherapy , Radiotherapy/adverse effects , Anemia/therapy , Incidence , Medical Oncology/methods , Prevalence , Prospective Studies , Radiotherapy/methods , Radiotherapy , Spain/epidemiology
18.
An. sist. sanit. Navar ; 34(1): 9-20, ene.-abr. 2011. tab
Article in Spanish | IBECS | ID: ibc-97849

ABSTRACT

La evaluación de la calidad de vida es uno de los elementos clave de la atención que se ofrece al paciente oncológico. Este trabajo presenta la línea de investigación que sobre la calidad de vida se ha realizado desde 1992 en los servicios de oncología del Hospital de Navarra. Se trabaja dentro del Grupo de Calidad de Vida de la Organización Europea para la Investigación y Tratamiento del Cáncer –EORTC– en el desarrollo de cuestionarios y en otros proyectos. Se ha coordinado la creación de la escala de la EORTC de información. Se han validado instrumentos de medida de dicho organismo para nuestro país. Se han llevado a cabo estudios de calidad de vida en tumores y en satisfacción delos pacientes con los cuidados recibidos. Esta línea de investigación tiene un beneficio directo en la atención que reciben los pacientes(AU)


Quality of life assessment is one of the key elements of the care that is offered to cancer patients. The aim of this work is to present the research line on quality of life that has been carried out since 1992 in the Oncology Departments of the Hospital de Navarra. These departments actively collaborate with the European Organisation of Research and Treatment of Cancer –EORTC– Quality of Life Group in creating questionnaires and also in other projects of this group. Our institution has coordinated the development process of the EORTC information module. Different EORTC questionnaires have been validated for use in our country. Quality of life studies have been carried out in the main tumour sites and in other areas, such as patients’ satisfaction with care. This research line has a direct benefit on the attention that patients receive(AU)


Subject(s)
Humans , Quality of Life , Neoplasms/psychology , Psychometrics/instrumentation , Surveys and Questionnaires , Patient Satisfaction
19.
Acta pediatr. esp ; 68(5): 258-262, mayo 2010. ilus, tab
Article in Spanish | IBECS | ID: ibc-85129

ABSTRACT

Presentamos una casuística familiar de síndrome de Pfeiffer, con 15 miembros afectados a lo largo de cuatro generaciones. Los 5 casos pediátricos fueron atendidos y diagnosticados en el Hospital Clínico Universitario de Valladolid entre los años 2002 y 2008, con un seguimiento clínico y radiológico. Se revisa el diagnóstico diferencial con el resto de las craneosinostosis autosómicas dominantes (síndromes de Apert, Crouzon...) y se muestra la heterogeneidad en su expresión clínica de los diferentes probandos en la serie familiar. En cuanto a la genética molecular, estos síndromes familiares comparten mutaciones en el receptor tipo 2 del factor de crecimiento de los fibroblastos (FGFR), si bien el síndrome de Pfeiffer también presenta alteraciones en el FGFR tipo 1.Hoy día es posible también realizar el diagnóstico prenatal mediante ultrasonidos y obtener un mejor pronóstico en las formas familiares con un tratamiento neuroquirúrgico precoz (AU)


We report a family case series of Pfeiffer’s Syndrome, with 15 affected members along 4 generations. 5 pediatric cases were attended and diagnosed in the University Clinical Hospital of Valladolid between 2002-2008, with clinical and radiological follow up. Each case underwent differential diagnosis with the rest of the autosomal dominant craniosynostosis (Apert, Crouzon…)and displayed heterogeneity on its clinical expression. Genetically, the affected members of a family syndrome share mutations in the fibroblast growth factor receptor (FGFR)type 2, while Pfeiffer Syndrome also presents alterations in the type 1 FGFR. Today it is possible in the familial cases, to do prenatal diagnosis by ultrasound and offer an early neurosurgery treatment and a better prognosis (AU)


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Acrocephalosyndactylia/complications , Acrocephalosyndactylia/diagnosis , Acrocephalosyndactylia/genetics , Syndactyly/complications , Syndactyly/diagnosis , Syndactyly/therapy , Skull/anatomy & histology , Skull/pathology , Skull/physiopathology , Intellectual Disability/complications , Intellectual Disability/diagnosis
20.
Acta pediatr. esp ; 68(3): 138-142, mar. 2010. ilus, tab
Article in Spanish | IBECS | ID: ibc-85093

ABSTRACT

Presentamos el caso de un varón de 8 años de edad, que fue diagnosticado en el periodo neonatal de síndrome de Klinefelter (SK), por mostrar rasgos dismórficos en las manos, los pies y la cara, así como un bajo peso al nacimiento, en cuyo estudio genético se obtuvo un cariotipo 48 XXYY. Si bien el SK típico (con incidencia de 1/500-1.000 recién nacidos varones) se debe a errores en la meiosis paterna o materna, esta variante mucho menos frecuente (un 3% de la forma clásica, supone la dotación cromosómica anómala de ambos gametos. Evolutivamente, ha presentado un importante retraso psicomotor y escolar. En la actualidad, además de retraso pondero estatural, presenta los rasgos fenotípicos del SK. No se detectan alteraciones hormonales de gonadotropinas ni de la testosterona. Todavía no ha presentado alteraciones psiquiátricas conductuales, y su carácter es tranquilo y apacible. Su edad, aún prepuberal, justifica la ausencia de ginecomastia y de las alteraciones psiquiátricas descritas. Se realiza una revisión conceptual del SK y sus variantes (AU)


We present an eight year old male who was diagnosed during the neonatal period with the Klinefelter’s syndrome, because he presented dysmorphic features in hands, feet and face, low birth weight and genetic study with e 48 XXYY karyotype. Although the typical KS (with incidence of 1/500-1.000 NB males) is due to errors in the paternal or maternal meiosis, this variant much less frequent (3%of the classic form), represents the anomalous chromosome complement of both gametes. Evolutionarily he has presented an important psychomotor and school retardation. Nowadays, he presents growth delay and the phenotypic features of SK. He doesn’t show hormonal alterations relating to the gonadotrophins or testosterone. He still has not showed psychiatric behavioural alterations; rather his personality is calm and pleasant. His age which is still prepuberal explains the absence of gynecomastia or psychiatric alterations. A conceptual review of SK is carried out as well as its differences (AU)


Subject(s)
Humans , Male , Child , Klinefelter Syndrome/complications , Klinefelter Syndrome/diagnosis , Klinefelter Syndrome/genetics , Syndactyly/complications , Syndactyly/diagnosis , Syndactyly/genetics
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