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3.
Neurologia (Engl Ed) ; 35(3): 185-206, 2020 Apr.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31003788

RESUMO

BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.


Assuntos
Aconselhamento Genético , Distrofia Miotônica/diagnóstico , Distrofia Miotônica/genética , Guias de Prática Clínica como Assunto/normas , Transtornos de Deglutição , Seguimentos , Humanos , Distrofia Miotônica/complicações
4.
Neth Heart J ; 27(10): 474-479, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31270738

RESUMO

BACKGROUND: Many adult congenital heart disease (ACHD) patients are at risk of sudden cardiac death (SCD). An implantable cardioverter-defibrillator (ICD) may prevent SCD, but the evidence for primary prevention indications is still unsatisfactory. STUDY DESIGN: PREVENTION-ACHD is a prospective study with which we aim to prospectively validate a new risk score model for primary prevention of SCD in ACHD patients, as well as the currently existing guideline recommendations. Patients are screened using a novel risk score to predict SCD as well as current ICD indications according to an international Consensus Statement. Patients are followed up for two years. The primary endpoint is the occurrence of SCD and sustained ventricular arrhythmias. The Study was registered at ClinicalTrials.gov (NCT03957824). CONCLUSION: PREVENTION-ACHD is the first prospective study on SCD in ACHD patients. In the light of a growing and aging population of patients with more severe congenital heart defects, more robust clinical evidence on primary prevention of SCD is urgently needed.

5.
An Sist Sanit Navar ; 38(1): 9-20, 2015.
Artigo em Espanhol | MEDLINE | ID: mdl-25963454

RESUMO

OBJECTIVE: To determine the number of suicides and the main social and demographic characteristics, time frames and methods involved during the period 2010-2013 in Navarra by gender. METHODS: A study of the Electronic Clinical Records provided by Navarra's Healthcare Service in which suicides in Navarra are detailed. RESULTS: One hundred and eighty individuals committed suicide. The number of suicides remained stable: 41 in 2010, 51 in 2011 and 44 in 2012 and 2013. Seventy-five point four percent were males (n=136) and 24.6 % (n=44) were females. In the 13 to 26 age group, 12 (92.3%) out of 13 suicides were committed by males. In terms of employment status, 49.3% (n=70) were pensioners. The highest rate of suicides was reached in summer (n=71) and spring (n=39). Monday was the day with the highest rate of suicides (n=37) and the time period between 8:00 and 12:00 hours was when the highest number of suicides (n=80) took place. The most usual ways of committing suicide were hanging (n=80), falling from a height (n=41) and pharmacological overdose (n=23). Males used violent methods more frequently. It is necessary to highlight the fact that in some of the sociodemographic characteristics there was up to 60% of cases without enough information. CONCLUSION: The results obtained show some specific features of the phenomenon of suicide in Navarra that should be considered for its prevention. Furthermore, the implementation of effective protocols of data collection is recommended to develop prevention strategies.


Assuntos
Distribuição por Sexo , Suicídio/estatística & dados numéricos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Espanha/epidemiologia , Adulto Jovem
6.
J Chromatogr A ; 1380: 11-6, 2015 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-25576042

RESUMO

The present paper describes the calibration of selected passive samplers used in the quantitation of trichlorophenol and trichloroanisole in wineries' ambient air, by calculating the corresponding sampling rates. The method is based on passive sampling with sorbent tubes and involves thermal desorption-gas chromatography-triple quadrupole mass spectrometry analysis. Three commercially available sorbents were tested using sampling cartridges with a radial design instead of axial ones. The best results were found for Tenax TA™. Sampling rates (R-values) for the selected sorbents were determined. Passive sampling was also used for accurately determining the amount of compounds present in the air. Adequate correlation coefficients between the mass of the target analytes and exposure time were obtained. The proposed validated method is a useful tool for the early detection of trichloroanisole and its precursor trichlorophenol in wineries' ambient air while avoiding contamination of wine or winery facilities.


Assuntos
Poluentes Atmosféricos/análise , Poluição do Ar em Ambientes Fechados , Ar/análise , Anisóis/análise , Clorofenóis/análise , Vinho , Contaminação de Alimentos , Cromatografia Gasosa-Espectrometria de Massas/métodos , Espectrometria de Massas em Tandem
8.
Heart Rhythm ; 10(1): 16-21, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23079032

RESUMO

BACKGROUND: Identification of electrocardiographic (ECG) criteria for para-Hisian accessory pathways (APs) is based on a small series of patients. The presence of a negative delta wave in leads V(1) and V(2) has been suggested as an ECG marker of this AP location. OBJECTIVE: To validate these ECG findings in a large series of patients with strict invasive criteria for that location. METHODS: We included 105 patients (39 women, 66 men; mean age 26 ± 12 years, range 5-82 years) with an ECG pattern compatible with preexcitation through an anteroseptal or midseptal AP following established ECG criteria. A para-Hisian AP was defined when the location of its successful catheter ablation coincided with either the largest recordable His bundle electrogram or a His bundle potential of>0.1 mV. Patients without that definition were included in the control group. RESULTS: A para-Hisian location of the AP was found in 52 patients. AP locations of the remaining 53 patients (control group) were anteroseptal (n = 39), midseptal (n = 9), and fasciculoventricular (n = 5). A negative delta wave in leads V(1) and V(2) was observed in 13 patients with para-Hisian APs (sensitivity 25%; specificity 92%). However, the sum of initial r-wave amplitudes in those leads was<0.5 mV in 44 of the patients with para-Hisian APs and in 13 patients of the control group (sensitivity 85%; specificity 75.5%; area under receiver-operator characteristic curve 0.85). CONCLUSIONS: The presence of negative delta waves in leads V(1) and V(2) indicates a poor sensitivity and high specificity to detect APs with a strict definition of para-Hisian location. The sum of initial r-wave amplitudes in those ECG leads could be a useful, adjunctive marker in the noninvasive identification of these challenging APs.


Assuntos
Feixe Acessório Atrioventricular/diagnóstico , Feixe Acessório Atrioventricular/fisiopatologia , Eletrocardiografia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Algoritmos , Ablação por Cateter , Distribuição de Qui-Quadrado , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Curva ROC , Sensibilidade e Especificidade
9.
Food Chem ; 135(4): 2445-52, 2012 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-22980827

RESUMO

In this work, we used a cell immobilisation system consisting of Penicillium chrysogenum fungi (GRAS) bound to the osmotolerant yeast strains Saccharomyces cerevisiae X4 and X5 for the partial fermentation of raisin musts. The resulting wines were compared with others obtained by partial fermentation of musts with free yeasts and with a traditionally produced sweet wine (i.e. without fermentation of the must). The analysis of volatile compounds grouped by aroma series showed the partially fermented musts had a more complex aroma than the traditional wine. Specially prominent among aroma series was that of ripe fruit, followed by the milky and chemical series. The volatiles with the greatest impact on wine aroma as assessed in terms of odour activity were ethyl hexanoate, ethyl octanoate, butyrolactone, isoamyl alcohols, acetaldehyde, ethyl acetate, 2,3-butanediol, acetoin and 2,3-butanedione. A cluster analysis according to the Ward method was performed to assess the similarity between the traditional sweet wine and those obtained by partial fermentation with free and immobilised yeasts revealed small differences between the wines obtained with free and immobilised yeasts, and marked differences between partially fermented and traditionally obtained sweet wine. The wines provided by immobilised yeasts were the most appreciated in the sensory analysis (especially those obtained with X4 yeasts).


Assuntos
Vitis/química , Compostos Orgânicos Voláteis/análise , Vinho/análise , Adulto , Feminino , Fermentação , Humanos , Masculino , Pessoa de Meia-Idade , Penicillium chrysogenum/metabolismo , Saccharomyces cerevisiae/metabolismo , Paladar , Vitis/metabolismo , Vitis/microbiologia , Compostos Orgânicos Voláteis/metabolismo , Vinho/microbiologia , Adulto Jovem
10.
Int J Food Microbiol ; 145(1): 342-8, 2011 Jan 31.
Artigo em Inglês | MEDLINE | ID: mdl-21215485

RESUMO

The must from Tempranillo dried grapes was divided into four batches to produce sweet wine. The first one was fortified with ethanol up to 12% (v/v) to avoid fermentation (traditional way). Other two batches were partially fermented with two osmoethanol tolerant Saccharomyces cerevisiae strains (X4 and X5). The last one was fermented with native yeast by spontaneous fermentation. Wines fermented partially with the strains X4 and X5 show high volatile acidity values (above 2g/L expressed as acetic acid), and a glycerol concentration around 20 g/L. Both strains also produce high amount of carboxylic acids and therefore the wines show a high ethyl ester concentration. Aromatic series were obtained for all the wines by grouping aroma compounds according to their odor descriptors. The series of the fermented wines with higher values in relation with the control wine were fruity, sweet and fatty, emphasizing the fruity series in the samples fermented with the X4 and X5 strains. The sensorial analysis of the wine samples by a tasting panel put in evidence that the musts fermented with the osmoethanol tolerant yeasts were better valued than the rest of the wine samples. The must fermented with the X4 strain obtained the maximum score in terms of aroma and flavour. So, the use of these osmoethanol tolerant S. cerevisiae strains could be a suitable alternative to produce sweet wines from must with high sugar concentration. The wines obtained this way are chemically and organoleptically more complex than those elaborated traditionally.


Assuntos
Fermentação , Microbiologia de Alimentos , Saccharomyces cerevisiae/crescimento & desenvolvimento , Vinho/análise , Vinho/microbiologia , Ácido Acético/análise , Carboidratos/análise , Ácidos Carboxílicos/análise , Ésteres/análise , Etanol , Glicerol/análise , Humanos , Odorantes/análise , Vitis/microbiologia , Compostos Orgânicos Voláteis/análise
13.
Biotechnol Lett ; 28(13): 1007-11, 2006 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-16786261

RESUMO

Volatile compounds were analyzed in Airen and Macabeo wines at the end of the alcoholic fermentation and after a short time contact with wine lees. The concentration of 34 analyzed compounds, with the exception of hexyl acetate, linalool, ss-ionone and farnesol, increased significantly after contact with lees in Airen wines. Esters and terpenic compounds decreased significantly in Macabeo wines after contact with lees. The contact with lees could be considered as favourable in Airen wines to improve the aroma quality.


Assuntos
Técnicas de Cultura de Células/métodos , Meios de Cultura/química , Etanol/metabolismo , Análise de Alimentos , Saccharomyces cerevisiae/metabolismo , Vinho/análise , Vinho/microbiologia , Etanol/química , Manipulação de Alimentos/métodos , Odorantes , Fatores de Tempo , Volatilização
14.
Int J Food Microbiol ; 110(1): 34-42, 2006 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-16690148

RESUMO

Ethanol tolerance, ATPase activity and the lipid composition of the plasma membrane to study potential relationship among them were examined in five different wine yeast strains. Yeast cells were subjected to ethanol stress (4% v/v). Principal component analysis of the results revealed that the wine yeasts studied can be distinguished in terms of ATPase activity and oleic acid (C18:1), and palmitoleic acid (C16:1), in plasma membrane. Multiple regression analysis was used to identify a potential influence of some components of the plasma membrane on ethanol tolerance and ATPase activity. Based on the results, the ergosterol, oleic acid and palmitoleic acid are highly correlated with ATPase activity and ethanol tolerance. Ethanol tolerance and the ATPase activity of the plasma membrane were correlated at the 96.64% level with the oleic acid and ergosterol in plasma membrane. The Saccharomyces cerevisiae var. capensis flor yeast strain, which exhibited the highest ergosterol concentration in plasma membrane when grown in the presence of 4% v/v ethanol, was found to be the most ethanol-tolerant.


Assuntos
Adenosina Trifosfatases/metabolismo , Etanol/farmacologia , Lipídeos de Membrana/química , Vinho/microbiologia , Leveduras , Ergosterol/análise , Fermentação , Microbiologia de Alimentos , Análise de Componente Principal , Análise de Regressão , Saccharomyces cerevisiae/efeitos dos fármacos , Saccharomyces cerevisiae/enzimologia , Saccharomyces cerevisiae/fisiologia , Especificidade da Espécie , Leveduras/efeitos dos fármacos , Leveduras/enzimologia , Leveduras/fisiologia
15.
Biotechnol Lett ; 26(9): 757-62, 2004 May.
Artigo em Inglês | MEDLINE | ID: mdl-15195978

RESUMO

Volatile compounds of sherry wine containing gluconic acid under aging by submerged flor yeast cultures were analyzed. The aroma profile was obtained by grouping the compounds in nine aromatic series. The balsamic, fatty, herbaceous and empyreumatic series increased significantly as consequence of the increase of pantolactone, acids (butanoic, 2-methylbutanoic and 3-methylbutanoic), methionol and gamma-butyrolactone compounds, respectively. The decrease of higher alcohols promoted solvent series diminished. These changes are consistent with those observed in the production of commercial sherry wine using traditional biological aging.


Assuntos
Gluconatos/química , Saccharomyces cerevisiae/metabolismo , Vinho , Fermentação , Olfato , Temperatura , Fatores de Tempo
16.
Biotechnol Lett ; 25(22): 1887-91, 2003 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-14719822

RESUMO

The traditional biological process by which sherry wines are aged can be accelerated by using submerged Saccharomyces cerevisiae var. capensis (G1) strain cultures previously grown in glycerol. The used controlled shaking conditions raise the acetaldehyde, acetoin, and meso 2,3-butanediol contents in the wine, and increases the consumption of gluconic acid by flor yeast relative to traditional biological aging under flor yeast velum.


Assuntos
Técnicas de Cultura de Células/métodos , Gluconatos/análise , Gluconatos/metabolismo , Polímeros/análise , Polímeros/química , Saccharomyces cerevisiae/metabolismo , Vinho/análise , Vinho/microbiologia , Tecnologia de Alimentos/métodos , Glucose/química , Glicerol/metabolismo , Compostos Orgânicos/análise , Compostos Orgânicos/metabolismo , Saccharomyces cerevisiae/classificação , Saccharomyces cerevisiae/crescimento & desenvolvimento , Especificidade da Espécie , Volatilização
17.
J Cardiovasc Electrophysiol ; 12(4): 489-92, 2001 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-11332574

RESUMO

A 17-year-old girl with a corrected complex congenital heart disease and recurrent episodes of supraventricular tachycardia was referred for catheter ablation. Electrophysiologic studies revealed the presence of an accessory pathway (AP) with bidirectional conduction and decremental properties. We demonstrated a course parallel to the node-His AV conduction system. Transient abolition of the bidirectional conduction through the AP was obtained by radiofrequency application to the ventricular insertion located in the distal right bundle branch and to the atrial insertion, located in the mid-anterior atrial septum. Radiofrequency application at the low anterior atrial septum, above the His bundle, successfully abolished AP conduction without affecting AV nodal conduction. Demonstration of the course and insertions of the AP, its bidirectional decremental conduction properties, and the association with a complex congenital heart disease are exceptional and interesting findings and raise the possibility of an accessory AV node with a parallel conduction pathway to the right bundle branch.


Assuntos
Função Atrial , Ablação por Cateter , Sistema de Condução Cardíaco/fisiopatologia , Taquicardia Supraventricular/fisiopatologia , Taquicardia Supraventricular/terapia , Função Ventricular , Adolescente , Nó Atrioventricular/fisiopatologia , Fascículo Atrioventricular/fisiopatologia , Eletrocardiografia , Feminino , Cardiopatias Congênitas/complicações , Humanos , Condução Nervosa , Taquicardia Supraventricular/complicações , Taquicardia Supraventricular/diagnóstico
19.
Rev Esp Cardiol ; 54(4): 525-8, 2001 Apr.
Artigo em Espanhol | MEDLINE | ID: mdl-11282061

RESUMO

Radiofrequency catheter ablation has become a first line therapy for several types of tachycardias because of its high efficacy and low complication rate. The development of proarrhythmic complications due to a direct effect of radiofrequency is very unusual. We describe a patient with previous myocardial infarction and well tolerated sustained monomorphic ventricular tachycardia who underwent catheter ablation of the tachycardia substrate. During two of the radiofrequency applications, ventricular fibrillation developed and external defibrillation was required.


Assuntos
Ablação por Cateter/efeitos adversos , Taquicardia Ventricular/terapia , Fibrilação Ventricular/etiologia , Humanos , Masculino , Pessoa de Meia-Idade
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