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1.
Genome Med ; 15(1): 68, 2023 09 07.
Artículo en Inglés | MEDLINE | ID: mdl-37679823

RESUMEN

BACKGROUND: Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algorithms to maximise WES/WGS diagnostic yield in rare disease patients. Most tools devoted to this aim take advantage of patient phenotype information for prioritization of genomic data, although are often limited by incomplete gene-phenotype knowledge stored in biomedical databases and a lack of proper benchmarking on real-world patient cohorts. METHODS: We developed ClinPrior, a novel method for the analysis of WES/WGS data that ranks candidate causal variants based on the patient's standardized phenotypic features (in Human Phenotype Ontology (HPO) terms). The algorithm propagates the data through an interactome network-based prioritization approach. This algorithm was thoroughly benchmarked using a synthetic patient cohort and was subsequently tested on a heterogeneous prospective, real-world series of 135 families affected by hereditary spastic paraplegia (HSP) and/or cerebellar ataxia (CA). RESULTS: ClinPrior successfully identified causative variants achieving a final positive diagnostic yield of 70% in our real-world cohort. This includes 10 novel candidate genes not previously associated with disease, 7 of which were functionally validated within this project. We used the knowledge generated by ClinPrior to create a specific interactome for HSP/CA disorders thus enabling future diagnoses as well as the discovery of novel disease genes. CONCLUSIONS: ClinPrior is an algorithm that uses standardized phenotype information and interactome data to improve clinical genomic diagnosis. It helps in identifying atypical cases and efficiently predicts novel disease-causing genes. This leads to increasing diagnostic yield, shortening of the diagnostic Odysseys and advancing our understanding of human illnesses.


Asunto(s)
Algoritmos , Genómica , Humanos , Estudios Prospectivos , Bases de Datos Factuales , Estudios de Asociación Genética
2.
J Clin Med ; 12(16)2023 Aug 10.
Artículo en Inglés | MEDLINE | ID: mdl-37629262

RESUMEN

Patients with type 2 diabetes mellitus (T2DM) and coronary artery disease (CAD) without myocardial infarction (MI) or stroke are at high risk for major cardiovascular events (MACEs). We aimed to provide real-world data on age-related clinical characteristics, treatment management, and incidence of major cardiovascular outcomes in T2DM-CAD patients in Spain from 2014 to 2018. We used EHRead® technology, which is based on natural language processing and machine learning, to extract unstructured clinical information from electronic health records (EHRs) from 12 hospitals. Of the 4072 included patients, 30.9% were younger than 65 years (66.3% male), 34.2% were aged 65-75 years (66.4% male), and 34.8% were older than 75 years (54.3% male). These older patients were more likely to have hypertension (OR 2.85), angina (OR 1.64), heart valve disease (OR 2.13), or peripheral vascular disease (OR 2.38) than those aged <65 years (p < 0.001 for all comparisons). In general, they were also more likely to receive pharmacological and interventional treatments. Moreover, these patients had a significantly higher risk of MACEs (HR 1.29; p = 0.003) and ischemic stroke (HR 2.39; p < 0.001). In summary, patients with T2DM-CAD in routine clinical practice tend to be older, have more comorbidities, are more heavily treated, and have a higher risk of developing MACE than is commonly assumed from clinical trial data.

3.
Sensors (Basel) ; 23(13)2023 Jul 04.
Artículo en Inglés | MEDLINE | ID: mdl-37447993

RESUMEN

The detection of cracks in rotating machinery is an unresolved issue today. In this work, a methodology for condition monitoring of railway axles is presented, based on crack detection by means of the automatic selection of patterns from the vibration signal measurement. The time waveforms were processed using the Wavelet Packet Transform, and appropriate alarm values for diagnosis were calculated automatically using non-supervised learning techniques based on Change Point Analysis algorithms. The validation was performed using vibration signals obtained during fatigue tests of two identical railway axle specimens, one of which cracked during the test while the other did not. During the test in which the axle cracked, the results show trend changes in the energy of the vibration signal associated with theoretical defect frequencies, which were particularly evident in the direction of vibration that was parallel to the track. These results are contrasted with those obtained during the test in which the fatigue limit was not exceeded, and the test therefore ended with the axle intact, verifying that the effects that were related to the crack did not appear in this case. With the results obtained, an adjusted alarm value for a condition monitoring process was established.


Asunto(s)
Algoritmos , Análisis de Ondículas , Vibración
4.
J Clin Med ; 11(20)2022 Oct 11.
Artículo en Inglés | MEDLINE | ID: mdl-36294325

RESUMEN

Patients with Type 2 diabetes mellitus (T2DM) and coronary artery disease (CAD) are at high risk of developing major adverse cardiovascular events (MACE). This is a multicenter, retrospective, and observational study performed in Spain aimed to characterize these patients in a real-world setting. Unstructured data from the Electronic Health Records were extracted by EHRead®, a technology based on Natural Language Processing and machine learning. The association between new MACE and the variables of interest were investigated by univariable and multivariable analyses. From a source population of 2,184,662 patients, we identified 4072 adults diagnosed with T2DM and CAD (62.2% male, mean age 70 ± 11). The main comorbidities observed included arterial hypertension, hyperlipidemia, and obesity, with metformin and statins being the treatments most frequently prescribed. MACE development was associated with multivessel (Hazard Ratio (HR) = 2.49) and single coronary vessel disease (HR = 1.71), transient ischemic attack (HR = 2.01), heart failure (HR = 1.32), insulin treatment (HR = 1.40), and percutaneous coronary intervention (PCI) (HR = 2.27), whilst statins (HR = 0.73) were associated with a lower risk of MACE occurrence. In conclusion, we found six risk factors associated with the development of MACE which were related with cardiovascular diseases and T2DM severity, and treatment with statins was identified as a protective factor for new MACE in this study.

5.
PLoS One ; 17(2): e0263277, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35143527

RESUMEN

INTRODUCTION AND OBJECTIVES: Patients with type 2 diabetes (T2D) and stable coronary artery disease (CAD) previously revascularized with percutaneous coronary intervention (PCI) are at high risk of recurrent ischemic events. We aimed to provide real-world insights into the clinical characteristics and management of this clinical population, excluding patients with a history of myocardial infarction (MI) or stroke, using Natural Language Processing (NLP) technology. METHODS: This is a multicenter, retrospective study based on the secondary use of 2014-2018 real-world data captured in the Electronic Health Records (EHRs) of 1,579 patients (0.72% of the T2D population analyzed; n = 217,632 patients) from 12 representative hospitals in Spain. To access the unstructured clinical information in EHRs, we used the EHRead® technology, based on NLP and machine learning. Major adverse cardiovascular events (MACE) were considered: MI, ischemic stroke, urgent coronary revascularization, and hospitalization due to unstable angina. The association between MACE rates and the variables included in this study was evaluated following univariate and multivariate approaches. RESULTS: Most patients were male (72.13%), with a mean age of 70.5±10 years. Regarding T2D, most patients were non-insulin-dependent T2D (61.75%) with high prevalence of comorbidities. The median (Q1-Q3) duration of follow-up was 1.2 (0.3-4.5) years. Overall, 35.66% of patients suffered from at least one MACE during follow up. Using a Cox Proportional Hazards regression model analysis, several independent factors were associated with MACE during follow up: CAD duration (p < 0.001), COPD/Asthma (p = 0.021), heart valve disease (p = 0.031), multivessel disease (p = 0.005), insulin treatment (p < 0.001), statins treatment (p < 0.001), and clopidogrel treatment (p = 0.039). CONCLUSIONS: Our results showed high rates of MACE in a large real-world series of PCI-revascularized patients with T2D and CAD with no history of MI or stroke. These data represent a potential opportunity to improve the clinical management of these patients.


Asunto(s)
Registros Electrónicos de Salud
6.
Ann Hematol ; 101(1): 59-67, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34642787

RESUMEN

Despite the effectiveness of plasma exchange (PEX) and immunosuppressants in the treatment of acquired thrombotic thrombocytopenic purpura (aTTP), a number of patients still die as a result of the disease. Whether caplacizumab could rescue these patients remains still unsettled. The objective of this study was to characterise mortality patterns and prognostic factors in the first episode of aTTP.We queried the Spanish TTP Registry for patients with a diagnosis of aTTP in their presenting episode who fulfilled complete clinical and follow-up data (n = 102). The patients were diagnosed between 2004 and 2018, and all were treated with daily PEX and corticosteroids. Clinical and laboratory data were analysed at diagnosis and during the treatment course.Eight patients (7.7%) died between 12 h and 36 days after presentation, and could be classified into three patterns: death before treatment, early death driven by acute cardiac or neurologic events, and late death due to unremitted aTTP. Stupor or coma at diagnosis and platelet count < 20 × 109 /L by the 6th treatment day were independently associated with increased risk of death.Stupor or coma at diagnosis and lack of response to PEX by the 6th day in patients experiencing the first episode of aTTP are strong predictors of mortality. These patients could be rescued by novel agents aimed at halting the microvascular thrombosis until adequate immunosuppression is achieved.


Asunto(s)
Corticoesteroides/uso terapéutico , Intercambio Plasmático , Púrpura Trombocitopénica Trombótica/mortalidad , Púrpura Trombocitopénica Trombótica/terapia , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Púrpura Trombocitopénica Trombótica/diagnóstico , Anticuerpos de Dominio Único/uso terapéutico
7.
Sensors (Basel) ; 20(12)2020 Jun 24.
Artículo en Inglés | MEDLINE | ID: mdl-32599845

RESUMEN

Railway axles are critical to the safety of railway vehicles. However, railway axle maintenance is currently based on scheduled preventive maintenance using Nondestructive Testing. The use of condition monitoring techniques would provide information about the status of the axle between periodical inspections, and it would be very valuable in the prevention of catastrophic failures. Nevertheless, in the literature, there are not many studies focusing on this area and there is a lack of experimental data. In this work, a reliable real-time condition-monitoring technique for railway axles is proposed. The technique was validated using vibration measurements obtained at the axle boxes of a full bogie installed on a rig, where four different cracked railway axles were tested. The technique is based on vibration analysis by means of the Wavelet Packet Transform (WPT) energy, combined with a Support Vector Machine (SVM) diagnosis model. In all cases, it was observed that the WPT energy of the vibration signals at the first natural frequency of the axle when the wheelset is first installed (the healthy condition) increases when a crack is artificially created. An SVM diagnosis model based on the WPT energy at this frequency demonstrates good reliability, with a false alarm rate of lower than 10% and defect detection for damage occurring in more than 6.5% of the section in more than 90% of the cases. The minimum number of wheelsets required to build a general model to avoid mounting effects, among others things, is also discussed.

8.
Sensors (Basel) ; 18(5)2018 May 17.
Artículo en Inglés | MEDLINE | ID: mdl-29772820

RESUMEN

Crack detection for railway axles is key to avoiding catastrophic accidents. Currently, non-destructive testing is used for that purpose. The present work applies vibration signal analysis to diagnose cracks in real railway axles installed on a real Y21 bogie working on a rig. Vibration signals were obtained from two wheelsets with cracks at the middle section of the axle with depths from 5.7 to 15 mm, at several conditions of load and speed. Vibration signals were processed by means of wavelet packet transform energy. Energies obtained were used to train an artificial neural network, with reliable diagnosis results. The success rate of 5.7 mm defects was 96.27%, and the reliability in detecting larger defects reached almost 100%, with a false alarm ratio lower than 5.5%.

9.
Med. clín (Ed. impr.) ; 150(5): 178-184, mar. 2018. tab, graf
Artículo en Español | IBECS | ID: ibc-171017

RESUMEN

Fundamento y objetivo: Ensayo clínico aleatorizado realizado en 2 centros de salud urbanos de España. Evaluar si una intervención educativa en mujeres en edad perimenopáusica con hipertensión, diabetes mellitus y/o dislipidemia podría conseguir cambios significativos en la reducción de parámetros bioquímicos y hemodinámicos de riesgo. Pacientes y métodos: Participaron 320 mujeres con edades comprendidas entre los 45 y 60 años y diagnosticadas de hipertensión, diabetes mellitus y/o dislipidemia. Fueron asignadas de forma aleatoria a grupo experimental (n=160) y a grupo control (n=160). El grupo intervención recibió 3 sesiones educativas y el grupo control recibió un folleto informativo enviado por correo postal. Fueron evaluadas variables hemodinámicas y bioquímicas al inicio del estudio y un año después en ambos grupos. Resultados: Las mujeres del grupo intervención mostraron, de forma significativa, una disminución de las lipoproteínas de baja densidad (p=0,034) (-5,89±29,8; IC 95%: -13,1/0,27) y un aumento de las lipoproteínas de alta densidad (p=0,013) (2,71±10,6; IC 95%: -1,36/6,20), así como mejoras en la presión arterial sistólica (p=0,016) (-2,16±11,8; IC 95%: -4,4/0,01) y la frecuencia cardíaca (p=0,003) (-1,46±10,3; IC 95%: -3,34/0,42) en comparación con las mujeres del grupo control. Estas últimas aumentaron significativamente los niveles de glucosa (p=0,04) (4,84±15,5; IC 95%: -0,75/31,3) y gamma-glutamiltransferasa (p=0,031) (3,61±14,7; IC 95%: 0,87/6,36) en comparación con las del grupo experimental. Conclusiones: Una intervención educativa puede ser un método eficaz para reducir los parámetros asociados a un aumento de probabilidad de sufrir una enfermedad cardiovascular en mujeres en edad perimenopáusica con hipertensión, diabetes mellitus y/o dislipidemia (AU)


Background and objective: Randomised clinical trial performed in two urban health centres in Spain. To evaluate if educational intervention in women of perimenopausal age with hypertension, diabetes mellitus and/or dyslipidaemia could achieve significant changes in the reduction of biochemical and haemodynamic risk parameters. Patients and methods: The study included 320 women aged between 45 and 60 years old who were diagnosed with hypertension, diabetes mellitus and/or dyslipidaemia. They were randomly assigned to the experimental group (n=160) and the control group (n=160). The intervention group received three educational sessions and the control group received an informative leaflet sent by mail. Haemodynamic and biochemical variables were evaluated at baseline and one year later in both groups. Results: Women in the intervention group showed a decrease in low density lipoprotein (P=.034), (-5.89±29.8; 95% CI: -13.1/0.27) and an increase in high density lipoprotein (P=.013), (2.71±10.6; 95% CI: -1.36/6.20), as well as improvements in systolic blood pressure (P=.016), (-2.16±11.8; 95% CI: -4.4/0.01) and frequency (P=.003), (-1.46±10.3; 95% CI: -3.34/0.42) compared to women in the control group. Women in the control group significantly increased glucose (P=.04), (4.84±15.5; 95% CI: -0.75/31.3) and gamma-glutamyltranspeptidase (P=.031), (3.61±14.7; 95% CI: 0.87/6.36) levels more than those in the experimental group. Conclusions: An educational intervention can be an effective method of reducing the parameters associated with an increased likelihood of cardiovascular disease in women at perimenopausal age with hypertension, diabetes mellitus and/or dyslipidaemia (AU)


Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Intervención Educativa Precoz/métodos , Factores de Riesgo , Hipercolesterolemia/prevención & control , Educación en Salud/métodos , Atención Primaria de Salud , Hipertensión/diagnóstico , Diabetes Mellitus/diagnóstico , Dislipidemias/diagnóstico , Menopausia , Perimenopausia
10.
Med Clin (Barc) ; 150(5): 178-184, 2018 03 09.
Artículo en Inglés, Español | MEDLINE | ID: mdl-28743399

RESUMEN

BACKGROUND AND OBJECTIVE: Randomised clinical trial performed in two urban health centres in Spain. To evaluate if educational intervention in women of perimenopausal age with hypertension, diabetes mellitus and/or dyslipidaemia could achieve significant changes in the reduction of biochemical and haemodynamic risk parameters. PATIENTS AND METHODS: The study included 320 women aged between 45 and 60 years old who were diagnosed with hypertension, diabetes mellitus and/or dyslipidaemia. They were randomly assigned to the experimental group (n=160) and the control group (n=160). The intervention group received three educational sessions and the control group received an informative leaflet sent by mail. Haemodynamic and biochemical variables were evaluated at baseline and one year later in both groups. RESULTS: Women in the intervention group showed a decrease in low density lipoprotein (P=.034), (-5.89±29.8; 95% CI: -13.1/0.27) and an increase in high density lipoprotein (P=.013), (2.71±10.6; 95% CI: -1.36/6.20), as well as improvements in systolic blood pressure (P=.016), (-2.16±11.8; 95% CI: -4.4/0.01) and frequency (P=.003), (-1.46±10.3; 95% CI: -3.34/0.42) compared to women in the control group. Women in the control group significantly increased glucose (P=.04), (4.84±15.5; 95% CI: -0.75/31.3) and gamma-glutamyltranspeptidase (P=.031), (3.61±14.7; 95% CI: 0.87/6.36) levels more than those in the experimental group. CONCLUSIONS: An educational intervention can be an effective method of reducing the parameters associated with an increased likelihood of cardiovascular disease in women at perimenopausal age with hypertension, diabetes mellitus and/or dyslipidaemia.


Asunto(s)
Diabetes Mellitus/terapia , Dislipidemias/terapia , Hipertensión/terapia , Educación del Paciente como Asunto , Perimenopausia , Glucemia/análisis , Presión Sanguínea , Enfermedades Cardiovasculares/etiología , Enfermedades Cardiovasculares/prevención & control , Diabetes Mellitus/sangre , Dislipidemias/sangre , Femenino , Humanos , Hipertensión/fisiopatología , Lipoproteínas/sangre , Síndrome Metabólico/terapia , Persona de Mediana Edad , Factores de Riesgo , Resultado del Tratamiento
11.
Nutr. hosp ; 34(4): 863-868, jul.-ago. 2017. tab, graf
Artículo en Español | IBECS | ID: ibc-165348

RESUMEN

Introducción: las enfermedades cardiovasculares son la primera causa de muerte en las mujeres tras la menopausia, ya que después de esta etapa se producen profundos cambios metabólicos y hormonales que favorecen el desarrollo de síndrome metabólico. Un aumento en el porcentaje de la grasa visceral puede estar relacionado con la aparición de dicho síndrome. Objetivo: establecer la relación entre la grasa visceral y los parámetros del síndrome metabólico y determinar el punto de corte óptimo para las variables relacionadas con la obesidad, en mujeres con un factor de riesgo cardiovascular. Método: estudio descriptivo transversal realizado en dos centros de salud urbanos de España. Fueron evaluadas 320 mujeres de edades comprendidas entre 45 y 60 años con hipertensión, diabetes mellitus y/o dislipemia. Se estudiaron edad, actividad estrogénica, grasa visceral y grasa corporal medida a través de un dispositivo de bioimpedancia, índice de masa corporal, perímetro abdominal, presión arterial sistólica y diastólica, triglicéridos, lipoproteínas de alta densidad, glucosa y presencia o no de síndrome metabólico. Resultados: las mujeres menopáusicas presentaban mayor cantidad de grasa visceral (p = 0,011). Se observó una correlación significativa entre la grasa visceral y todos los parámetros definitorios del síndrome metabólico (p < 0,05). El punto de corte óptimo para las variables relacionadas con la obesidad fue: grasa visceral (8 kg), perímetro abdominal (93,5 cm), índice de masa corporal (26,9 kg/m2) y grasa corporal total (24,3 kg). Conclusiones: mostraron mayor cantidad de grasa visceral las mujeres menopáusicas. Se observa una asociación entre la grasa visceral y los parámetros que definen el síndrome metabólico. Sería recomendable realizar un estudio más complejo que estudiase la utilidad de la grasa visceral como posible parámetro de cribado en el síndrome metabólico (AU)


Introduction: Cardiovascular diseases are the leading cause of death in women after menopause, since after this stage there are profound metabolic and hormonal changes which favor the development of metabolic syndrome. An increase in the percentage of visceral fat may be related to the onset of this syndrome. Objective: To establish the relationship between visceral fat and parameters of the metabolic syndrome and to determine the optimal cut-off point for the variables related to obesity in women with a cardiovascular risk factor. Method: Cross-sectional descriptive study carried out in two urban health centers in Spain. We evaluated 320 women aged 45 to 60 years with hypertension, diabetes mellitus and/or dyslipidemia. Age, estrogenic activity, visceral fat and body fat measured through a bioimpedance device, body mass index, abdominal perimeter, systolic and diastolic blood pressure, triglycerides, high density lipoprotein, glucose and the presence or absence of syndrome metabolic were considered. Results: There is a significant correlation between visceral fat and all metabolic syndrome defining parameters (p < 0.05). The optimum cut-offs for obesity-related variables were visceral fat (8 kg), abdominal perimeter (93.5 cm), body mass index (26.9 kg/m2) and total body fat (24.3 kg). Conclusions: Menopausal women showed more visceral fat. An association between visceral fat and the parameters that define the metabolic syndrome is observed. It would be advisable to perform a more complex research to study the utility of visceral fat as a possible screening parameter in the metabolic syndrome (AU)


Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Síndrome Metabólico/complicaciones , Dieta con Restricción de Grasas/métodos , Grasa Intraabdominal , Grasa Intraabdominal/fisiopatología , Factores de Riesgo , Atención Primaria de Salud , Menopausia/fisiología , Curva ROC , Modelos Logísticos
12.
Ann Hematol ; 95(9): 1419-27, 2016 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-27392662

RESUMEN

Hyperhemolysis syndrome (HHS) is characterized by severe intravascular hemolysis with a decrease in the reticulocyte count, which is triggered and aggravated by transfusion and cannot be explained by standard immunohematological studies. A nationwide study was conducted in order to retrospectively identify thalassemia patients with HHS in Spain in order to assess pre-disposing mechanisms for this syndrome. For this, the expression of adhesion (CD49, CD36) and complement-related molecules (C3a, CD59) and the levels of reticulocyte apoptosis and macrophage activation were measured in 4 thalassemia patients with HHS, 14 patients without HHS, and 10 healthy subjects. Five of the six thalassemia patients had δß-thalassemia. The patients were not alloimmunized prior to the syndrome, which was developed after the first transfusion in all but one case. Patients with δß-thalassemia did not respond to corticoids or immunoglobulins; only splenectomy was successful. The expression of CD49 (α4ß1 integrin) was far higher in patients who had experienced HHS (85.07 ± 18.46 vs. 46.28 ± 24.31; p < 0.01), and the difference remained significant after correcting by the number of molecules analyzed (Bonferroni p < 0.05). In our population, δß-thalassemia was the most common hemoglobinopathy in patients with HHS. Furthermore, the risk to develop this syndrome may be associated with an increased expression of α4ß1 integrin.


Asunto(s)
Transfusión Sanguínea/métodos , Hemólisis/fisiología , Talasemia/fisiopatología , Talasemia/terapia , Adolescente , Adulto , Apoptosis , Antígenos CD36/sangre , Antígenos CD59/sangre , Complemento C3a/análisis , Femenino , Citometría de Flujo , Humanos , Integrina alfa1/sangre , Activación de Macrófagos , Masculino , Persona de Mediana Edad , Reticulocitos/metabolismo , Estudios Retrospectivos , Factores de Riesgo , España , Síndrome , Talasemia/sangre , Adulto Joven , Talasemia beta/sangre , Talasemia beta/fisiopatología , Talasemia beta/terapia , Talasemia delta/sangre , Talasemia delta/fisiopatología , Talasemia delta/terapia
13.
Artículo en Inglés | MEDLINE | ID: mdl-24116344

RESUMEN

BACKGROUND: The prevalence of essential tremor (ET) is still not well understood and the various studies performed to date have generated highly variable results. Few epidemiologic studies on the prevalence of ET have been reported from Spain. METHODS: A one-stage door-to-door survey was conducted on Arosa Island, northwestern Spain, to determine the prevalence of ET in the population aged 65 years and older. The diagnostic criteria for ET were the presence of non-dystonic head tremor or moderate- to severe-amplitude tremor on at least four tests of the revised Washington Heights-Inwood Genetic Study of Essential Tremor (WHIGET) Scale. RESULTS: A total of 65 individuals with ET (28 males, 37 females) were identified, resulting in a crude prevalence of 8.63% (adjusted rate 8.42%). Prevalence increased with advancing age. There were no significant differences in prevalence between sexes in any of the age groups. Among the prevalent cases, 12.3% (n = 8) had been previously diagnosed. Only 29.2% (n = 19) reported functional disability caused by tremor. A family history of tremor was reported in 35.4% (n = 23). DISCUSSION: The prevalence of ET was higher than that seen in similar populations in Spain and other countries. A high proportion of those with ET were previously undiagnosed. Since Arosa Island has been a relatively isolated area, these results might indicate a predominant role, at least in the elderly, for genetic factors in the development of ET.

14.
Enferm. clín. (Ed. impr.) ; 13(5): 267-278, sept. 2003. tab, graf
Artículo en Es | IBECS | ID: ibc-25048

RESUMEN

Objetivo. Identificar los factores de riesgo cardiovascular en los pacientes que presentan un primer episodio de cardiopatía isquémica y su percepción en relación con la importancia de los mismos. Material y métodos. Estudio multicéntrico, observacional transversal. Durante 3 meses (de septiembre a diciembre de 2000) se entregó un cuestionario a 59 pacientes que ingresaron por un primer episodio de cardiopatía isquémica en 4 hospitales de Catalunya. Los criterios de inclusión fueron: edad = 7 días y ausencia de complicaciones graves. El análisis de datos se realizó con el programa informático SPSS versión 10.0. Se realizaron tablas de contingencia, así como la prueba de la X2 o el test exacto de Fisher. Se llevó a cabo el cálculo de medias y de las desviaciones típicas, así como las pruebas de la t de Student, de la U de Mann-Whitney, el análisis de la varianza y el test de Kruskal-Wallis. Resultados. El 73 por ciento eran varones. Se observó infarto agudo de miocardio (IAM) en el 72 por ciento y angina de pecho en el 28 por ciento. La edad media fue de 56,8 años. El 36 por ciento eran fumadores; el 24 por ciento consideró que el tabaco no constituía un riesgo para su salud. Un 32 por ciento presentaba un consumo excesivo de alcohol. El 75 por ciento consideró que el alcohol era una sustancia vitalizante. Se observó hipertensión arterial en el 58 por ciento de los pacientes, diabetes mellitus en el 21 por ciento e hipercolesterolemia en el 68 por ciento. Un 35 por ciento presentaba obesidad y un 72,4 por ciento tomaba una dieta grasa; sólo el 7 por ciento consideró que su dieta no era adecuada o muy adecuada. El 60 por ciento eran sedentarios. Un 62 por ciento manifestó haber sufrido estrés en los últimos 6 meses y un 85 por ciento se considero satisfecho con su estilo de vida. El 73,7 por ciento creía que la cardiopatía isquémica alteraría mucho sus actividades de la vida cotidiana y que los cambios más difíciles serían la alimentación, el tabaco y el ejercicio físico. La información había sido regular o mala para el 34 por ciento de los pacientes. Discusión. La mayoría de los pacientes presentaba los factores de riesgo clásicos de la cardiopatía isquémica, pero la mayoría no los valoraba. Es necesario investigar los conocimientos y creencias, y adaptar la información a la realidad individual de cada paciente (AU)


Asunto(s)
Adulto , Anciano , Femenino , Masculino , Persona de Mediana Edad , Humanos , Isquemia Miocárdica/epidemiología , Angina de Pecho/epidemiología , Infarto del Miocardio/epidemiología , Factores de Riesgo , Obesidad/complicaciones , Obesidad/rehabilitación , Obesidad/epidemiología , Distribución por Sexo , Tabaquismo/efectos adversos , Tabaquismo/epidemiología , Alcoholismo/complicaciones , Alcoholismo/epidemiología , Hipertensión/complicaciones , Hipertensión/epidemiología , Hipercolesterolemia/complicaciones , Hipercolesterolemia/epidemiología , Escolaridad , Estilo de Vida , Tiempo de Internación/estadística & datos numéricos , Evaluación de Necesidades/estadística & datos numéricos , España/epidemiología
15.
Temas enferm. actual ; 10(50): 37-40, mar. 2003. ilus
Artículo en Español | LILACS | ID: lil-337017

RESUMEN

Los autores describen el método del Triage para priorizar y optimizar el uso de los recursos, principalmente el factor tiempo y humano, a fin de que aquellos pacientes que realmente necesitan una atención rápida, la obtengan, contribuyendo además a una atención de mayor calidad


Asunto(s)
Humanos , Triaje , Enfermería de Urgencia/métodos , Enfermería de Urgencia/normas , Registros de Enfermería , Servicios Médicos de Urgencia
16.
Temas enferm. actual ; 10(50): 37-40, mar. 2003. ilus
Artículo en Español | BINACIS | ID: bin-6239

RESUMEN

Los autores describen el método del Triage para priorizar y optimizar el uso de los recursos, principalmente el factor tiempo y humano, a fin de que aquellos pacientes que realmente necesitan una atención rápida, la obtengan, contribuyendo además a una atención de mayor calidad (AU)


Asunto(s)
Humanos , Enfermería de Urgencia/métodos , Triaje , Servicios Médicos de Urgencia , Registros de Enfermería , Enfermería de Urgencia/normas
17.
Infect Immun ; 70(12): 6621-7, 2002 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-12438334

RESUMEN

We previously demonstrated that mannoprotein (MP) from Cryptococcus neoformans (CnMP) stimulates interleukin-12 production by human monocytes, thus fostering a T-helper type 1 (Th1) protective anticryptococcal response. In this paper we show that CnMP was also able to induce a Candida albicans-directed protective Th1 response. This was demonstrated for mice immunized with CnMP by induction of a delayed-type hypersensitivity (DTH) reaction to C. albicans MP (CaMP) as well as induction of gamma interferon production by CD4(+) and CD8(+) splenic T cells stimulated in vitro with CaMP. CnMP-immunized mice were also partially protected from lethal systemic challenge with C. albicans, as shown by prolonged median survival times and decreased fungal burden in the kidney. Much evidence supports the validity of these cross-reactive and functional Th1 responses: (i) a non-cross-reactive C. albicans antigen, such as enolase, did not produce a DTH response to CaMP; (ii) passive adoptive transfer of T cells primed with CnMP induced a DTH reaction; (iii) C. neoformans extract elicited a DTH response to CaMP; and (iv) a monoclonal antibody (7H6) directed against a major and immunodominant T-cell-stimulatory 65-kDa MP (MP65) of C. albicans also recognized discrete 100-kDa constituents of C. neoformans extracts, as well as secretory constituents of the fungus. These results suggest the presence of common Th1 antigenic determinants in the mannoproteic material of C. neoformans and C. albicans epitopes, which should be considered in devising common strategies for immunoprophylactic or immunotherapeutic control of the fungi.


Asunto(s)
Candida albicans/inmunología , Candidiasis/inmunología , Cryptococcus neoformans/inmunología , Glicoproteínas de Membrana/inmunología , Células TH1/inmunología , Animales , Antígenos Fúngicos/inmunología , Candida albicans/patogenicidad , Candidiasis/microbiología , Candidiasis/prevención & control , Cryptococcus neoformans/metabolismo , Femenino , Hipersensibilidad Tardía/inmunología , Inmunización , Interferón gamma/biosíntesis , Ratones , Bazo/citología , Bazo/inmunología
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