RESUMO
INTRODUCTION: Spastic paraplegia (SPG) is a syndrome characterised by lower limb spasticity, occurring alone or in association with other neurological manifestations. Despite of the new molecular technologies, many patients remain yet undiagnosed. OBJECTIVE: The purpose of this study was to describe the clinical presentation and molecular characteristics of a cohort of 27 patients from 18 different families with SPG in the south of Spain. METHODS: We used a targeted next-generation sequencing (NGS) approach to study a proband from each family. RESULTS: Variants in SPG11 gene were the most common cause of SPG in our area. We made a genetic diagnosis in 52% of cases, identified 3 novel variants and reclassified one uncertain variant in SPG11 gene as pathogenic variant. We identified a patient with two truncanting mutations in SPG11 gene and late onset disease and report another missense mutation outside of motor domain of KIF1A gene in a family with pure SPG. CONCLUSION: Our study contributes to enhance the scientific knowledge of SPG. It is important to note the large group of cases (48%) that were not genetically diagnosed in our cohort. Therefore NGS approach is an efficient diagnostic tool, but it still large the number of non-diagnosed subjects, suggesting further genetic heterogeneity.
Assuntos
Paraplegia Espástica Hereditária , Estudos de Coortes , Humanos , Cinesinas/genética , Mutação/genética , Paraplegia/diagnóstico , Paraplegia/genética , Linhagem , Proteínas/genética , Paraplegia Espástica Hereditária/diagnóstico , Paraplegia Espástica Hereditária/genéticaRESUMO
INTRODUCTION AND OBJECTIVES: To evaluate the implementation of a collaborative experience between Primary (PC) and Hospital Care (HC) aimed at reducing potentially inappropriate prescribing (PIP) in patients with polypharmacy. MATERIALS AND METHODS: Collaborative experience including a controlled before-after intervention study, carried out in the Donostialdea Integrated Health Organization (IHO), with Bilbao Basurto IHO as control group, Osakidetza, Basque Health Service. Participant were 227 PC physicians and physicians from 7 hospital services, and patients with 5 or more drugs meeting at least one PIP criteria. The intervention consisted of communication and knowledge between professionals, PC-HC consensus, training, identification of patients at risk, medication review, evaluation and feed-back. The collaboration process (agreements, consensus documents, training activities) and the change in the prevalence of PIP in polymedicated patients (using computerised health records) were evaluated. RESULTS: A total of 21 PIP criteria and 6 recommendation documents were agreed. An analysis was performed on 15,570 PIP from OSI Donostialdea and 24,866 from the control group. The prevalence of PIP in polymedicated patients was reduced by -4.53% (95% CI: -4.71 to -4.36, P< .0001) in comparison with the control group. The before-after differences were statistically significant across the 7 services. CONCLUSIONS: PC-HC collaboration is feasible and, along with other intervention components, reduces inappropriate polypharmacy in the context of a recently integrated healthcare organisation. The collaboration process is complex and requires continuous monitoring, policy involvement, leadership that encourages health professional participation, and intensive use of information systems.
Assuntos
Prescrição Inadequada , Polimedicação , Comunicação , Pessoal de Saúde , Hospitais , Humanos , Prescrição Inadequada/prevenção & controleRESUMO
Esta guía de práctica clínica (GPC) surge como iniciativa del comité científico de la Sociedad Española de Cirugía Torácica. Para elaborar dicha GPC se han formulado las preguntas PICO (paciente, intervención, comparación y outcome o variable resultado) sobre distintos aspectos del neumotórax espontáneo. Para la evaluación de la calidad de la evidencia y elaboración de las recomendaciones se han seguido las directrices del grupo de trabajo Grading of Recommendations, Assessent, Development and Evaluation (GRADE).(AU)
This clinical practice guideline (CPG) emerges as an initiative of the scientific committee of the Spanish Society of Thoracic Surgery. We formulated PICO (patient, intervention, comparison, and outcome) questions on various aspects of spontaneous pneumothorax. For the evaluation of the quality of evidence and preparation of recommendations we followed the guidelines of the Grading of recommendations, Assessment, Development and Evaluation (GRADE) working group.(AU)
Assuntos
Humanos , Pneumotórax/cirurgia , Pneumotórax/diagnóstico por imagem , Radiografia Torácica , Tomografia Computadorizada por Raios X , Ultrassonografia , AnamneseRESUMO
This clinical practice guideline (CPG) emerges as an initiative of the scientific committee of the Spanish Society of Thoracic Surgery. We formulated PICO (patient, intervention, comparison, and outcome) questions on various aspects of spontaneous pneumothorax. For the evaluation of the quality of evidence and preparation of recommendations we followed the guidelines of the Grading of recommendations, Assessment, Development and Evaluation (GRADE) working group.
Assuntos
Humanos , Pneumotórax/cirurgia , Cirurgia Torácica/métodosRESUMO
OBJECTIVE: There is an inverse association between educational level and body composition; however this association has strongly focused in young and adults population. The aim of this study was to analyze the educational levels attained in overweight and obesity Spanish elderly and to investigate if there was a correlation between having a low educational level and the risk of having overweight, central obesity or excess fat mass during the aging process. METHODS: A representative sample of 2706 elderly (629 men and 2077 women; mean age of 72.1 ± 5.3 years) from Spain were assessed in the elderly EXERNET multi-center study between 2008 and 2009. Body composition was assessed in all subjects by bioelectrical impedance. ANCOVA was used to compare the averages between the groups. Logistic regression was used to calculate the association between educational level and the risk of having overweight, central fat or obesity. RESULTS: We observed significances between waist circumference and educational level in both sex (men 96.6 cm, women 86.3 cm); (p less than 0.05 and p less than 0.01, respective). There is an inverse association between the academic level, fat mass (29.5 kg) and percentage of body fat (40.8%) in women (p less than 0.05, p less than 0.01, respectively). No differences were observed in men. CONCLUSIONS: low educational level increases the possibility of having overweight or obesity in women and to have an increased waist circumference in both sexes.
OBJETIVO: El nivel educacional se ha relacionado inversamente con la composición corporal, sin embargo esta asociación ha sido evidenciada mayoritariamente en población joven y adulta. El objetivo del presente estudio fue evaluar la relación entre la composición corporal de las personas mayores de 65 años y su nivel educativo, y determinar si tener un nivel educativo alto puede prevenir el riesgo de padecer sobrepeso, obesidad central o exceso de grasa durante la senectud. METODOS: El estudio se realizó entre los años 2008-2009, sobre una muestra representativa de personas mayores de España (2.706; 629 varones, 2.077 mujeres; edad media 72,1 ± 5,3 años), pertenecientes al Proyecto Multi-céntrico EXERNET. La composición corporal se evaluó mediante bio-impedancia eléctrica. Se utilizó ANCOVA para determinar las diferencias entre grupos. La asociación entre el nivel educativo y el riesgo de padecer sobrepeso, obesidad central o exceso de grasa se analizó mediante regresión logística. RESULTADOS: En el perímetro de cintura, los hombres y mujeres con mayor nivel de estudios presentaron 96,6 cm y 86,3 cm, respectivamente (pmenor de 0,05 y p menor de 0,01, respectivamente). Las mujeres con menor nivel de estudios presentaron 29,5 kg de masa grasa total y 40,8% de masa grasa (p menor de 0,05 y p menor de 0,01, respectivamente). Los varones no presentaron diferencias en estas mediciones. CONCLUSIONES: Poseer un bajo nivel de estudios aumenta las posibilidades de padecer sobrepeso y obesidad en las mujeres y de tener mayor perímetro de cintura en ambos sexos.
Assuntos
Composição Corporal , Obesidade/epidemiologia , Circunferência da Cintura , Idoso , Índice de Massa Corporal , Estudos Transversais , Escolaridade , Feminino , Humanos , Modelos Logísticos , Masculino , Obesidade Abdominal/epidemiologia , Sobrepeso/epidemiologia , Espanha/epidemiologiaRESUMO
Fundamentos: El nivel educacional se ha relacionado inversamente con la composición corporal, sin embargo esta asociación ha sido evidenciada mayoritariamente en población joven y adulta. El objetivo del presente estudio fue evaluar la relación entre la composición corporal de las personas mayores de 65 años y su nivel educativo, y determinar si tener un nivel educativo alto puede prevenir el riesgo de padecer sobrepeso, obesidad central o exceso de grasa durante la senectud. Métodos: El estudio se realizó entre los años 2008-2009, sobre una muestra representativa de personas mayores de España (n= 2,706; 629 varones, 2,077 mujeres; edad media 72,1 ± 5,3 años), pertenecientes al Proyecto Multi-céntrico EXERNET. La composición corporal se evaluó mediante bio-impedancia eléctrica. Se utilizó ANCOVA para determinar las diferencias entre grupos. La asociación entre el nivel educativo y el riesgo de padecer sobrepeso, obesidad central o exceso de grasa se analizó mediante regresión logística. Resultados: En el perímetro de cintura, los hombres y mujeres con mayor nivel de estudios presentaron 96,6 cm y 86,3 cm, respectivamente (p<0,05 y p<0,01, respectivamente). Las mujeres con menor nivel de estudios presentaron 29,5 kg de masa grasa total y 40,8% de masa grasa (p<0,05 y p<0,01, respectivamente). Los varones no presentaron diferencias en estas mediciones. Conclusiones: Poseer un bajo nivel de estudios aumenta las posibilidades de padecer sobrepeso y obesidad en las mujeres y de tener mayor perímetro de cintura en ambos sexos (AU)
Background: There is an inverse association between educational level and body composition; however this association has strongly focused in young and adults population. The aim of this study was to analyze the educational levels attained in overweight and obesity Spanish elderly and to investigate if there was a correlation between having a low educational level and the risk of having overweight, central obesity or excess fat mass during the aging process. Methods: A representative sample of 2706 elderly (629 men and 2077 women; mean age of 72.1 ± 5.3 years) from Spain were assessed in the elderly EXERNET multi-center study between 2008 and 2009. Body composition was assessed in all subjects by bioelectrical impedance. ANCOVA was used to compare the averages between the groups. Logistic regression was used to calculate the association between educational level and the risk of having overweight, central fat or obesity. Results: We observed significances between waist circumference and educational level in both sex (men 96.6 cm, women 86.3 cm); (p<0.05 and p<0.01, respective). There is an inverse association between the academic level, fat mass (29.5 kg) and percentage of body fat (40.8%) in women (p<0.05, p<0.01, respectively). No differences were observed in men. Conclusions: A low educational level increases the possibility of having overweight or obesity in women and to have an increased waist circumference in both sexes (AU)
Assuntos
Humanos , Masculino , Feminino , Idoso , Escolaridade , Composição Corporal/fisiologia , Sobrepeso/prevenção & controle , Obesidade/prevenção & controle , Adiposidade/fisiologia , Antropometria/métodos , Análise de Variância , Circunferência da Cintura/fisiologia , Envelhecimento/fisiologia , Saúde do Idoso , Estilo de VidaRESUMO
No disponible
Assuntos
Humanos , Masculino , Adulto , Mielite Transversa/complicações , Mielite Transversa/fisiopatologia , Mielite Transversa , Doenças do Sistema Nervoso/complicações , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/psicologia , Neurofisiologia/métodos , Neurofisiologia/organização & administração , Disfunções Sexuais Psicogênicas/complicações , Disfunções Sexuais Psicogênicas/fisiopatologia , Eletromiografia/instrumentação , Eletromiografia/métodos , Eletromiografia , Reflexoterapia/métodos , Espectroscopia de Ressonância Magnética/métodos , OrgasmoAssuntos
Mielite Transversa/complicações , Disfunções Sexuais Fisiológicas/etiologia , Adulto , Potenciais Somatossensoriais Evocados , Humanos , Imageamento por Ressonância Magnética , Masculino , Mielite Transversa/diagnóstico por imagem , Mielite Transversa/fisiopatologia , Disfunções Sexuais Fisiológicas/fisiopatologia , Medula Espinal/diagnóstico por imagemRESUMO
No disponible
Assuntos
Criança , Humanos , Masculino , Síndrome de Guillain-Barré/complicações , Síndrome de Guillain-Barré , Neurofisiologia/métodos , Debilidade Muscular/complicações , Debilidade Muscular , Transtornos Neurológicos da Marcha , Polirradiculoneuropatia , Dor Lombar/etiologia , Dor Lombar , Mialgia/etiologia , Mialgia , Condução Nervosa , Imageamento por Ressonância Magnética/métodosRESUMO
BACKGROUND AND PURPOSE: FM19G11 up-regulates mammalian target of rapamycin (mTOR)/hypoxia inducible factor-1α (HIF-1α) and PI3K/Akt pathways, which are involved in endothelial function. We evaluated the effects of FM19G11 on defective endothelial vasodilatation in arteries from rats and humans and investigated the mechanisms involved. EXPERIMENTAL APPROACH: Effects of chronic in vivo administration of FM19G11 on aortic endothelial vasodilatation were evaluated together with ex vivo treatment in aortic and mesenteric arteries from control and insulin-resistant rats (IRR). Its effects on vasodilator responses of penile arteries (HPRAs) and corpus cavernosum (HCC) from men with vasculogenic erectile dysfunction (ED) (model of human endothelial dysfunction) were also evaluated. Vascular expression of phosphorylated-endothelial NOS (p-eNOS), phosphorylated-Akt (p-Akt) and HIF-1α was determined by immunodetection and cGMP by elisa. KEY RESULTS: Chronic administration of FM19G11 reversed the impaired endothelial vasodilatation in IRR. Ex vivo treatment with FM19G11 also significantly improved endothelium-dependent vasodilatation in aorta and mesenteric arteries from IRR. These effects were accompanied by the restoration of p-eNOS and cGMP levels in IRR aorta and were prevented by either NOS or PI3K inhibition. p-Akt and p-eNOS contents were increased by FM19G11 in aortic endothelium of IRR. FM19G11-induced restoration of endothelial vasodilatation was unaffected by mTOR/HIF-1α inhibitors. FM19G11 also restored endothelial vasodilatation in HPRA and HCC from ED patients. CONCLUSIONS AND IMPLICATIONS: Stimulation of the PI3K/Akt/eNOS pathway by FM19G11 alleviates impaired NO-mediated endothelial vasodilatation in rat and human arteries independently of mTOR/HIF-1α activation. This pharmacological strategy could be beneficial for managing pathological conditions associated with endothelial dysfunction, such as ED.
Assuntos
Artérias/efeitos dos fármacos , Benzamidas/farmacologia , Endotélio Vascular/efeitos dos fármacos , Óxido Nítrico Sintase Tipo III/metabolismo , Fosfatidilinositol 3-Quinases/metabolismo , Proteínas Proto-Oncogênicas c-akt/metabolismo , Adulto , Idoso , Artérias/metabolismo , Benzamidas/administração & dosagem , Endotélio Vascular/metabolismo , Humanos , Subunidade alfa do Fator 1 Induzível por Hipóxia/metabolismo , Masculino , Pessoa de Meia-Idade , Serina-Treonina Quinases TOR/metabolismo , Adulto JovemRESUMO
BACKGROUND: different studies have demonstrated the correlation between anorectal manometry and endoanal ultrasonography data in patients with fecal incontinence, but there is no almost interest describing the same in healthy subjects according to age. AIMS: to study the possible correlation between anorectal manometry and endoanal ultrasonography data in a homogeneous group of healthy women, also according to age. MATERIAL AND METHODS: prospective observational study of a healthy subjects cohort (n=14). Homogeneous group of healthy volunteer women divided in 2 subgroups according to age. RESULTS: there was no proved correlation between the internal anal sphincter's measurement and the resting pressure in the whole sample as well as the analysis according to age. Neither there was any proved statistically significant correlation between the external anal sphincter´s thickness and the squeeze pressure, in the whole sample and by groups. CONCLUSIONS: it does not exist statistically significant correlation between the thickness of the sphincters and its function in a healthy subjects homogeneous group, neither in 2 groups according to age.
Assuntos
Envelhecimento/fisiologia , Canal Anal/diagnóstico por imagem , Canal Anal/fisiologia , Incontinência Fecal/fisiopatologia , Feminino , Humanos , Masculino , Manometria , Pessoa de Meia-Idade , Estudos Prospectivos , Valores de Referência , UltrassonografiaRESUMO
Recent studies have demonstrated that the pregnane X receptor (PXR) is a key regulator of cytochromes P450 3A (e.g. CYP3A4 in human) gene expression. As a result, activation of PXR may lead to CYP3A4 protein over-expression. Because induction of CYP3A4 could result in clinically important drug drug interactions, there has been a great interest in reducing the possibility of PXR activation by drug candidates in drug-discovery programmes. In order to provide structural insight for attenuating drug candidate-mediated PXR activation, we used a docking approach to study the structure activity relationship for PXR activators. Based on our docking models, it is proposed that introducing polar groups to the end of an activator should reduce its human PXR (hPXR) activity via destabilizing interactions in the hydrophobic areas of the PXR ligand-binding pocket. A number of analogues that incorporate these structural features then were designed and synthesized, and they exhibited significantly lower hPXR activation in a transactivation assay and decreased CYP3A4 induction in a human hepatocytes-based assay. In addition, an example in which attenuating hPXR activation was achieved by sterically destabilizing the helices 11 and 12 of the receptor is presented.
Assuntos
Receptores de Esteroides/química , Receptores de Esteroides/metabolismo , Adulto , Sítios de Ligação , Linhagem Celular , Citocromo P-450 CYP3A , Sistema Enzimático do Citocromo P-450/biossíntese , Sistema Enzimático do Citocromo P-450/genética , Indução Enzimática , Feminino , Expressão Gênica , Hepatócitos/efeitos dos fármacos , Hepatócitos/metabolismo , Humanos , Técnicas In Vitro , Ligantes , Masculino , Pessoa de Meia-Idade , Modelos Moleculares , Receptor de Pregnano X , Relação Estrutura-Atividade , Xenobióticos/metabolismo , Xenobióticos/farmacologiaRESUMO
Hasta que los avances en genética permitan detectary manipular los genes implicados en el alarmanteaumento de la prevalencia de obesidad enniños y jóvenes, la única solución realista al problemade la obesidad infantil es la prevención. Intentospor mejorar a un solo nivel o en un solo escenarioel problema serán probablemente insuficientes.La solución pasa por actuar principalmentesobre los dos aspectos fundamentales del balanceenergético: la ingesta y el gasto energético. Portanto, uno de los principales objetivos es tratar demodificar las conductas de los niños, reduciendoel número de horas dedicadas a actividades sedentariasy aumentar los niveles de actividad física.Los datos presentados en esta revisión pretendencolaborar en la determinación de cuales son aquellasintervenciones más eficaces para promover undescenso de la prevalencia de obesidad en niños.Los resultados de los trabajos incluidos demuestranque añadir 3 horas a la semana de prácticadeportiva a aquellas horas que en la actualidadson obligatorias para niños prepúberes en la escuela,permite atenuar la acumulación de masagrasa durante el crecimiento, al tiempo que incrementala ganancia de masa muscular y mejora lacondición física de los niños
Until there is an advancement in gene therapy;detection and manipulation of genes involved inexcess weigh among children, it is only realistic topursue prevention activities. Multidisciplinary approachesin prevention of obesity are necessary forsuccessful outcomes.One of the principal strategies is to modify thechildrens behaviour involves reducing sedentaryhabits and increasing PA levels. Both these behaviourchanges are part of two major components ofenergy balance: energy expenditure and food intake.Data presented in this review suggests some ofthe most effective interventions to reduce the prevalenceof obesity in children. Adding 3 hours perweek of sport activities to the compulsory physicaleducation courses in prepubertal children seems tobe effective in reducing fat mass accumulation. Italso had an effect on lean mass accretion duringgrowth and improved physical fitness
Assuntos
Masculino , Feminino , Criança , Adolescente , Humanos , Condicionamento Físico Humano , Obesidade/epidemiologia , Atividade Motora/fisiologia , Qualidade de Vida , Necessidade Energética , Obesidade/genética , Leptina/fisiologiaRESUMO
El objetivo de este estudio es determinar el valor que tienen las variables antropométricas (protocolo de Oscale de Ward) y la composición corporal (absorciometría fotónica dual de rayos X) para predecir la altura de vuelo en el salto vertical, utilizando un modelo de regresión lineal múltiple. Para ello se determinó la altura de vuelo (AV) en saltos verticales sin contramovimiento (SJ) y con contramovimiento (CMJ) mediante plataforma de fuerzas. También se midieron: la fuerza máxima realizada durante el salto (Fmax), el impulso mecánico positivo durante el salto (Ip+) y la fuerza isométrica máxima (FIM) de extensión desde la posición de semisentadilla, con las piernas flexionadas a 90º. Participaron en el estudio 114 sujetos prepúberes de 9.4ñ0.1 años de edad, 136.9ñ0.9 cm de talla y 33.9ñ0.9 kg de masa corporal (valores expresados como media ñ error estándar). La maduración sexual se determinó mediante el test de Tanner. El porcentaje medio de grasa de las piernas (PERFATPM) fue la principal variable predictiva de la AV en los CMJs, explicando por si sola un 20.5 por ciento de la variabilidad (R=-0.5, p<0.01). La variable anterior combinada con la masa muscular de las piernas media (MUSCPRM) permitió explicar un 30.8 por ciento (R=0.6, p<0.01), de tal manera que la AV (en m) en el CMJ puede ser estimada a partir de la siguiente ecuación: AV=0.19 (0.002 x PERFATPM) + (0.015 x MUSCPRM en kg) Una ecuación similar ha sido desarrollada para predecir la altura de vuelo en saltos sin contramovimiento: AV= 0.12 - (0.002 x PERFATPM) + (0.0035 x CMUSLO) - (0.0027 x PANTMS) En la que CMUSLO es la circunferencia superior del muslo (en cm) y PANTMS el pliegue anterior del muslo (en mm). (AU)
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Criança , Humanos , Movimento , Antropometria , Composição CorporalRESUMO
No disponible
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Humanos , Composição Corporal/fisiologia , Leptina/metabolismo , Esportes/fisiologiaRESUMO
No disponible
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Feminino , Masculino , Criança , Humanos , Composição Corporal/fisiologia , Exercício Físico/fisiologia , Densidade Óssea/fisiologia , Nível de Saúde , Estado Nutricional/fisiologiaRESUMO
No hay muchos datos sobre los efectos que tiene la actividad deportiva extraescolar en la adquisición de fuerza y masa ósea en niños prepúberes, ni como estas dos variables se relacionan entre sí. Se midió la fuerza generada durante un salto con contramovimiento (CMJ) y además, se determinó mediante DXA el contenido (BMC) y la densidad (BMD) mineral ósea y la masa muscular (MM) de las extremidades inferiores. Las pruebas se realizaron en dos ocasiones separadas 3.25 años. Todas las variables de fuerza se incrementaron con el crecimiento (p<0.05).Como era de esperar el BMC y el BMD medio de las extremidades inferiores también aumentó con el crecimiento. Por otra parte se encontró una fuerte correlación entre variables de fuerza, la MM y masa ósea. En conclusión, realizar al menos 3 horas a la semana de actividad deportiva extraescolar no se asocia con una mejora significativa de la capacidad de salto en niños prepúberes. Por otra parte, hay una relación muy estrecha entre la masa ósea (BMC y BMD) y la masa muscular, así como con el impulso mecánico positivo durante la ejecución máxima de un salto con contramovimiento independientemente del grado de actividad física que se realice (AU)
Assuntos
Criança , Humanos , Esportes , Fenômenos Biomecânicos , Densidade Óssea , Músculos/fisiologia , Fatores de TempoRESUMO
El pico de masa ósea se alcanza, normalmente, en la tercera década de vida. Sin embargo, la mayor velocidad de acumulación de capital óseo se produce en el periodo pre y peripuberal, que corresponde con los estadios 2-3 de Tanner. Este periodo es especialmente sensible a los agentes potencialmente osteogénicos, como la estimulación mecánica (actividad física), la actividad hormonal o la dieta. De hecho, los beneficios proporcionados por la actividad física sobre el esqueleto son mayores cuando la práctica deportiva se comienza antes o durante la etapa puberal. Además, el ejercicio físico aumenta los beneficios de la ingesta o suplementación con calcio, e incluso es capaz de contrarrestar los efectos adversos de una dieta deficiente en calcio, en las regiones óseas sometidas a carga. Por otra parte, un aporte energético deficiente se asocia a niveles de masa ósea disminuidos. Por lo tanto, la salud ósea durante el crecimiento y la vida adulta, depende de un aporte adecuado de calcio, vitamina D y energía (calorías), complementado con una estimulación mecánica (actividad física) apropiada a lo largo de la vida (AU)