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1.
Rev Gastroenterol Mex ; 76(4): 389-92, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-22188969

RESUMEN

Endoscopic ultrasound-guided bilio-pancreatic drainage (EBPD) has become an endoscopic alternative to percutaneous biliary drainage for patients with unsuccessful transpapillary approach. EBPD has a significant complication rate and expertise in advanced therapeutical endoscopy and endosonography are required. We present a 43 year-old male with pancreatic head adenocarcinoma, who after underwent a transgastric endoscopic rendez-vous technique, a gastric wall perforation at the fistula location was detected. We endoscopically sealed the gastric perforation and the patient had an uneventful recovery.


Asunto(s)
Adenocarcinoma/cirugía , Drenaje/efectos adversos , Drenaje/métodos , Endoscopía del Sistema Digestivo/métodos , Endosonografía , Neoplasias Pancreáticas/cirugía , Estómago/lesiones , Adulto , Conductos Biliares , Humanos , Masculino
2.
BMC Public Health ; 11: 704, 2011 Sep 18.
Artículo en Inglés | MEDLINE | ID: mdl-21923932

RESUMEN

BACKGROUND: Physicians involved in primary prevention are key players in CVD risk control strategies, but the expected reduction in CVD risk that would be obtained if all patients attending primary care had their risk factors controlled according to current guidelines is unknown. The objective of this study was to estimate the excess risk attributable, firstly, to the presence of CVD risk factors and, secondly, to the lack of control of these risk factors in primary prevention care across Europe. METHODS: Cross-sectional study using data from the European Study on Cardiovascular Risk Prevention and Management in Daily Practice (EURIKA), which involved primary care and outpatient clinics involved in primary prevention from 12 European countries between May 2009 and January 2010. We enrolled 7,434 patients over 50 years old with at least one cardiovascular risk factor but without CVD and calculated their 10-year risk of CVD death according to the SCORE equation, modified to take diabetes risk into account. RESULTS: The average 10-year risk of CVD death in study participants (N = 7,434) was 8.2%. Hypertension, hyperlipidemia, smoking, and diabetes were responsible for 32.7 (95% confidence interval 32.0-33.4), 15.1 (14.8-15.4), 10.4 (9.9-11.0), and 16.4% (15.6-17.2) of CVD risk, respectively. The four risk factors accounted for 57.7% (57.0-58.4) of CVD risk, representing a 10-year excess risk of CVD death of 5.66% (5.47-5.85). Lack of control of hypertension, hyperlipidemia, smoking, and diabetes were responsible for 8.8 (8.3-9.3), 10.6 (10.3-10.9), 10.4 (9.9-11.0), and 3.1% (2.8-3.4) of CVD risk, respectively. Lack of control of the four risk factors accounted for 29.2% (28.5-29.8) of CVD risk, representing a 10-year excess risk of CVD death of 3.12% (2.97-3.27). CONCLUSIONS: Lack of control of CVD risk factors was responsible for almost 30% of the risk of CVD death among patients participating in the EURIKA Study.


Asunto(s)
Instituciones de Atención Ambulatoria , Enfermedades Cardiovasculares/mortalidad , Enfermedades Cardiovasculares/prevención & control , Conducta de Reducción del Riesgo , Anciano , Estudios Transversales , Diabetes Mellitus/epidemiología , Europa (Continente)/epidemiología , Femenino , Humanos , Hiperlipidemias/epidemiología , Hipertensión/epidemiología , Masculino , Persona de Mediana Edad , Prevención Primaria , Medición de Riesgo , Factores de Riesgo , Fumar/epidemiología
3.
Scand J Gastroenterol ; 44(9): 1139-45, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19585376

RESUMEN

OBJECTIVES: To quantify the additional non-suspected new diagnoses made on upper endosonography (EUS) which were unknown before the procedure, and to analyse their influence on the management of patients. A further objective was to evaluate the influence that previous radiological or endoscopic explorations have on the capacity of EUS to diagnose these unsuspected lesions. MATERIAL AND METHODS: During a 2-year period every patient sent to our unit for upper EUS underwent a complete investigation, after signing an informed consent document. An upper EUS was considered as complete whenever the gut wall, pancreas, biliary tract, ampulla, large abdominal vessels, liver, spleen, left adrenal gland, posterior mediastinum and thyroid lobes had been explored. An additional diagnosis (AD) was defined as a diagnosis made on EUS that was previously unknown and not suspected. A significant additional diagnosis (SAD) was defined as an AD that required further study. The results of complementary explorations carried out before EUS were registered. RESULTS: A total of 239 patients were included in the study. ADs were found in 92 patients (38.5%), which were considered to be SADs in 27 patients (11.3%). Those patients had previously undergone computed tomography (CT) and those who underwent more than one exploration had fewer incidences of ADs on EUS (p=0.03 and p=0.02, respectively). No exploration alone or in combination with others showed any influence on the capacity of EUS to find a SAD (p >0.05). CONCLUSIONS: In our series, an AD was found on upper endosonography in 38.5% of the patients studied, and a SAD in 11.3%. The probability of finding a SAD on EUS is not influenced by previous endoscopic or radiologic explorations.


Asunto(s)
Endosonografía , Enfermedades Gastrointestinales/diagnóstico por imagen , Hallazgos Incidentales , Adulto , Anciano , Anciano de 80 o más Años , Distribución de Chi-Cuadrado , Femenino , Humanos , Masculino , Persona de Mediana Edad , Observación , Estudios Prospectivos
4.
Med Clin (Barc) ; 127(9): 331-4, 2006 Sep 09.
Artículo en Español | MEDLINE | ID: mdl-16987452

RESUMEN

BACKGROUND AND OBJECTIVE: We intended to estimate the prevalence of dyslipidemia among patients attending outpatient clinics of the Spanish health service. PATIENTS AND METHOD: HISPALIPID is a multicenter, cross-sectional study performed in 33,913 patients (55.7% women) with a mean age of 54.6 +/- 18.3 years attended in outpatient clinics across 15 of the 17 autonomous communities of Spain. 1,461 physicians (78.8% primary care physicians, and 21.2% specialists) participated in the study. Patients were considered having dyslipidemia if their doctor had established a previous diagnosis. RESULTS: A total of 8,256 patients (52.4% women, mean age 62.4 +/- 12.4 years) had been diagnosed with dyslipidemia, representing a global prevalence of 24.3% (CI95%: 23.8-24.8) (M: 26.2%; W:22.9%; P<0.001). The communities with the higher and lower prevalence were the Canary Islands (33.9%) and Cantabria (18.6%), respectively. About 87% dyslipemic patients presented an additional cardiovascular risk factor and 36.7% of dyslipemic patients had an associated cardiovascular disease. CONCLUSIONS: The prevalence of dyslipidemia is high in patients attending outpatient clinics of the Spanish health service (one out of four patients). In addition, these patients are at a high cardiovascular risk.


Asunto(s)
Dislipidemias/epidemiología , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pacientes Ambulatorios , Prevalencia , España/epidemiología
5.
Med. clín (Ed. impr.) ; 127(9): 331-334, sept. 2006. mapas, tab
Artículo en Es | IBECS | ID: ibc-048446

RESUMEN

Fundamento y objetivo: Conocer la prevalencia de la dislipemia entre los pacientes atendidos en las consultas ambulatorias del Sistema Nacional de Salud (SNS). Pacientes y método: HISPALIPID es un estudio transversal y multicéntrico realizado en una muestra de 33.913 pacientes (55,7% mujeres), con una edad media (DE) de 54,6 (18,3) años, de 15 de las 17 comunidades autónomas de España. Participaron 1.461 médicos (78,8% de atención primaria y 21,2% especialistas). Se consideró dislipémicos a los pacientes que ya tenían el diagnóstico previamente establecido por su médico y control óptimo a valores de la PA < 130/85 mmHg. Resultados: Estaban diagnosticados de dislipemia 8.256 pacientes (52,4% mujeres), con una edad media de 62,4 (12,4) años, y representaban una prevalencia global del 24,3% (intervalo de confianza del 95%, 23,8-24,8) (varones: 26,2%; mujeres: 22,9%; p < 0,001). Las comunidades con mayor y menor prevalencia ajustada por edad, sexo e índice de masa corporal fueron, respectivamente, Canarias (33,9%) y Cantabria (18,6%). El 86,8% de los pacientes tenía al menos otro factor de riesgo cardiovascular asociado. El 36,7% de los pacientes dislipémicos presentaba alguna enfermedad cardiovascular asociada. Conclusiones: La prevalencia de la dislipemia es alta entre los pacientes atendidos en las consultas ambulatorias del SNS, ya que uno de cada cuatro pacientes está diagnosticado de este factor de riesgo cardiovascular. Estos pacientes tienen un perfil de alto riesgo cardiovascular


Background and objective: We intended to estimate the prevalence of dyslipidemia among patients attending outpatient clinics of the Spanish health service. Patients and Method: HISPALIPID is a multicenter, cross-sectional study performed in 33,913 patients (55.7% women) with a mean age of 54.6 ± 18.3 years attended in outpatient clinics across 15 of the 17 autonomous communities of Spain. 1,461 physicians (78.8% primary care physicians, and 21.2% specialists) participated in the study. Patients were considered having dyslipidemia if their doctor had established a previous diagnosis. Results: A total of 8,256 patients (52.4% women, mean age 62.4 ± 12.4 years) had been diagnosed with dyslipidemia, representing a global prevalence of 24.3% (CI95%: 23.8-24.8) (M: 26.2%; W:22.9%; P<0.001). The communities with the higher and lower prevalence were the Canary Islands (33.9%) and Cantabria (18.6%), respectively. About 87% dyslipemic patients presented an additional cardiovascular risk factor and 36.7% of dyslipemic patients had an associated cardiovascular disease. Conclusions: The prevalence of dyslipidemia is high in patients attending outpatient clinics of the Spanish health service (one out of four patients). In addition, these patients are at a high cardiovascular risk


Asunto(s)
Humanos , Hiperlipidemias/epidemiología , Atención Primaria de Salud/estadística & datos numéricos , Pacientes Ambulatorios/estadística & datos numéricos , Factores de Riesgo , Estudios Transversales , España/epidemiología
6.
Nutr Hosp ; 20 Suppl 2: 1-3, 2005 Jun.
Artículo en Español | MEDLINE | ID: mdl-15981839

RESUMEN

Due to the characteristics of critically ill patients, elaborating recommendations on nutritional support for these patients is difficult. Usually the time of onset of nutritional support or its features are not well established, so that its application is based on experts' opinion. In the present document, recommendations formulated by the Metabolism and Nutrition Working Group of the Spanish Society of Intensive and Critical Medicine and Coronary Units (SEMICYUC) are presented. Recommendations are based on the literature analysis and further discussion by the working group members in order to define, consensually, the more relevant issues of metabolic and nutritional support of patients in a critical condition. Several clinical situations have been considered which are developed in the following articles of this publication. The present recommendations aim at providing a guideline for the less experienced clinicians when considering the metabolic and nutritional issues of critically ill patients.


Asunto(s)
Enfermedad Crítica/terapia , Trastornos Nutricionales/terapia , Apoyo Nutricional/métodos , Cuidados Críticos/métodos , Cuidados Críticos/normas , Guías como Asunto , Humanos , Evaluación Nutricional , Apoyo Nutricional/normas
7.
Am J Epidemiol ; 162(2): 157-64, 2005 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-15972934

RESUMEN

Chromium intake may increase insulin sensitivity, glucose tolerance, and the ratio of high density lipoprotein cholesterol to low density lipoprotein cholesterol. However, the epidemiologic evidence on the association between chromium and cardiovascular disease is very limited. To determine whether low toenail chromium concentrations were associated with risk of nonfatal myocardial infarction, the authors conducted an incident, population-based, case-control study in eight European countries and Israel in 1991-1992. Cases (n = 684) were men with a first diagnosis of myocardial infarction recruited from the coronary units of participating hospitals. Controls (n = 724) were men selected randomly from population registers (five study centers) or through other sources, such as hospitalized patients (three centers), general practitioners' practices (one center), or relatives or friends of cases (one center). Toenail chromium concentration was assessed by neutron activation analysis. Average toenail chromium concentrations were 1.10 mug/g in cases (95% confidence interval: 1.01, 1.18) and 1.30 mug/g in controls (95% CI: 1.21, 1.40). Multivariate odds ratios for quintiles 2-5 were 0.82 (95% CI: 0.52, 1.31), 0.68 (95% CI: 0.43, 1.08), 0.60 (95% CI: 0.37, 0.97), and 0.59 (95% CI: 0.37, 0.95). Toenail chromium concentration was inversely associated with the risk of a first myocardial infarction in men. These results add to an increasing body of evidence that points to the importance of chromium for cardiovascular health.


Asunto(s)
Cromo/deficiencia , Infarto del Miocardio/etiología , Uñas/química , Estudios de Casos y Controles , Humanos , Cooperación Internacional , Masculino , Persona de Mediana Edad , Infarto del Miocardio/epidemiología , Análisis de Activación de Neutrones , Riesgo , Factores de Riesgo , Dedos del Pie
8.
Nutr. hosp ; 20(supl.2): 1-3, jun. 2005.
Artículo en Es | IBECS | ID: ibc-039144

RESUMEN

Debido a las características de los pacientes críticos, la elaboración de recomendaciones sobre el soporte nutricional en estos pacientes es difícil. En muchas ocasiones no está claramente establecido el momento de inicio del soporte nutricional ni las características del mismo, por lo que su aplicación está basada en opiniones de expertos. En el presente documento se presentan las recomendaciones elaboradas por el Grupo de Trabajo de Metabolismo y Nutrición de la sociedad Española de Medicina Intensiva, Crítica y Unidades Coronarias (SEMICYUC). Las recomendaciones están basadas en el análisis de la literatura y en la posterior discusión entre los miembros del grupo de trabajo para definir, mediante consenso, los aspectos más relevantes del soporte metabólico y nutricional de los pacientes en situación crítica. Se han considerado diferentes situaciones clínicas, que se desarrollan en los artículos siguientes de esta publicación. Las presentes recomendaciones pretenden servir de guía para los clínicos con menor experiencia en la consideración de los aspectos metabólicos y nutricionales de los pacientes críticos (AU)


Due to the characteristics of critically ill patients, elaborating recommendations on nutritional support for these patients is difficult. Usually the time of onset of nutritional support or its features are not well established, so that its application is based on experts' opinion. In the present document, recommendations formulated by the Metabolism and Nutrition Working Group of the Spanish Society of Intensive and Critical Medicine and Coronary Units (SEMICYUC) are presented. Recommendations are based on the literature analysis and further discussion by the working group members in order to define, consensually, the more relevant issues of metabolic and nutritional support of patients in a critical condition. Several clinical situations have been considered which are developed in the following articles of this publication. The present recommendations aim at providing a guideline for the less experienced clinicians when considering the metabolic and nutritional issues of critically ill patients (AU)


Asunto(s)
Humanos , Enfermedad Crítica/terapia , Trastornos Nutricionales/terapia , Apoyo Nutricional/métodos , Guías como Asunto , Cuidados Críticos/métodos , Cuidados Críticos/normas , Evaluación Nutricional , Apoyo Nutricional/normas
9.
Arch Esp Urol ; 56(6): 657-65, 2003.
Artículo en Español | MEDLINE | ID: mdl-12959000

RESUMEN

A systematic review is characterized by the application of the scientific method to the evaluation of scientific literature. When a systematic review uses statistical techniques to combine and summarize the results from previous studies, it is called meta-analysis. Meta-analysis is a working tool that facilitates the realization of systematic and quantitative reviews. Its greater objectivity and rigour in comparison with the traditional reviews make that meta-analysis techniques are little by little being generalized as standard instrument to evaluate scientific evidence. In this article we detail the objectives and applications of this type of studies, as well as the stages in its preparation, including the presentation of results.


Asunto(s)
Investigación Biomédica/métodos , Metaanálisis como Asunto , Urología/métodos , Humanos
10.
Arch. esp. urol. (Ed. impr.) ; 56(6): 657-665, jul. 2003.
Artículo en Es | IBECS | ID: ibc-25092

RESUMEN

Una revisión sistemática se caracteriza por la aplicación del método científico a la evaluación de la literatura científica. Cuando una revisión sistemática utiliza técnicas estadísticas para combinar y resumir los resultados de estudios previos, recibe el nombre de metaanálisis. El meta-análisis es una herramienta de trabajo que facilita la realización de revisiones sistemáticas y cuantitativas. Su mayor objetividad y rigor con respecto a las revisiones tradicionales hacen que poco a poco las técnicas de meta-análisis se generalicen como instrumento estándar para evaluar la evidencia científica. En este artículo se detallan los objetivos y aplicaciones de este tipo de estudios, así como las etapas en su elaboración, incluyendo la presentación de resultados. (AU)


Asunto(s)
Humanos , Urología/métodos , Investigación Biomédica/métodos
11.
Med Clin (Barc) ; 120(14): 529-34, 2003 Apr 19.
Artículo en Español | MEDLINE | ID: mdl-12724064

RESUMEN

BACKGROUND AND OBJECTIVE: We aimed to assess the blood pressure (BP) control in patients with diabetes mellitus (DM) treated in primary care (PC) and to establish the factors associated with a suboptimal control of BP. PATIENTS AND METHOD: This was a multicenter, transverse study. Ninety investigators included 875 patients with DM (57.8% women), with a mean (SD) age of 64 (11.8) years. BP was measured according to the Sixth Report of Joint National Committee (JNC-VI) and Word Health Organization/International Society Hypertension (WHO/ISH) recommendations, calculating the arithmetic mean of three consecutive measurements. Patients with a previous established diagnosis were considered to be hypertensive, and an optimal control was considered when BP values were lower than 130/85 mmHg. RESULTS: 66.7% (n = 583) patients with DM were previously diagnosed of hypertension (HT); 86.3% (CI 95%: 83.0-89.1) of those with type 2 DM and 87.8% (CI95%: 70.9-96.0) of those with type 1 DM did not have an optimal control of BP at the visit (BP >= 130 and/or 85 mmHg). 56.8% (CI 95%: 50.1-63.3) of those with type 2 DM and 23.8% (CI 95%: 12.6-39.8) of those with type 1 DM with unknown HT had a BP >= 130 and/or 85 mmHg at the visit. The median of antihypertensive drugs used was 1 (1-2). In a multivariate analysis, age, higher body mass index (BMI), higher cholesterol levels and uric acid were associated with a worse BP control (p < 0.001). CONCLUSIONS: In our study, 66.7% of patients with DM attended in PC had known HT and only 13.6% had an optimal BP control. Diabetic patients with HT were undertreated, with a median of one antihypertensive drug.


Asunto(s)
Presión Sanguínea/efectos de los fármacos , Diabetes Mellitus Tipo 2/complicaciones , Hipertensión/complicaciones , Hipertensión/tratamiento farmacológico , Atención Primaria de Salud , Anciano , Antihipertensivos/uso terapéutico , Análisis Químico de la Sangre , Determinación de la Presión Sanguínea , Índice de Masa Corporal , Comorbilidad , Estudios Transversales , Diabetes Mellitus Tipo 2/tratamiento farmacológico , Diabetes Mellitus Tipo 2/epidemiología , Femenino , Humanos , Hipertensión/epidemiología , Masculino , Persona de Mediana Edad , Análisis Multivariante
12.
Med. clín (Ed. impr.) ; 120(14): 529-534, abr. 2003.
Artículo en Es | IBECS | ID: ibc-23720

RESUMEN

FUNDAMENTO Y OBJETIVO: Conocer el control de la presión arterial (PA) en pacientes con diabetes mellitus (DM) visitados en atención primaria (AP), y determinar los factores asociados a un control subóptimo de la PA. PACIENTES Y MÉTODO: Estudio transversal y multicéntrico. Noventa investigadores incluyeron a 875 pacientes con DM (57,8 por ciento mujeres), con edad media (DE) de 64 (11,8) años. La PA se midió según las recomendaciones del Sexto Informe del Joint National Committee (JNC-VI) y de la Organización Mundial de la Salud/Sociedad Internacional de Hipertensión (OMS/ISH), calculándose la media aritmética de tres tomas sucesivas. Se consideró hipertensos a los pacientes con diagnóstico previo establecido, y control óptimo a los valores de PA inferiores a 130/85 mmHg. RESULTADOS: El 66,7 por ciento (n = 583) de los pacientes con DM estaban previamente diagnosticados de hipertensión arterial (HTA); de éstos, el 86,3 por ciento (intervalo de confianza [IC] del 95 por ciento, 83,089,1) de los pacientes con DM tipo 2 y el 87,8 por ciento (IC del 95 por ciento, 70,9-96,0) de los pacientes con DM tipo 1 no tenían un control óptimo de la PA en la visita (PA mayor o igual de 130 y/o 85 mmHg). El 56,8 por ciento (IC del 95 por ciento, 50,1-63,3) de los enfermos con DM tipo 2 y el 23,8 por ciento (IC del 95 por ciento, 12,6-39,8) de los enfermos con DM tipo 1 sin HTA conocida tenían una PA igual o superior a 130 y/o 85 mmHg en la visita. La mediana de fármacos antihipertensivos utilizados fue de 1 (1-2). En el análisis multivariante, la edad, un mayor índice de masa corporal y los valores de colesterol y ácido úrico se asociaron a un peor control de la PA (p < 0,001). CONCLUSIONES: En nuestro estudio, el 66,7 por ciento de los pacientes con DM atendidos en AP eran hipertensos conocidos y sólo el 13,6 por ciento tenía un control óptimo de la PA. Los pacientes diabéticos con HTA estaban infratratados, con una mediana de un fármaco antihipertensivo (AU)


Asunto(s)
Persona de Mediana Edad , Anciano , Masculino , Femenino , Humanos , Atención Primaria de Salud , Comorbilidad , Análisis Multivariante , Análisis Químico de la Sangre , Antihipertensivos , Determinación de la Presión Sanguínea , Presión Sanguínea , Estudios Transversales , Hipertensión , Índice de Masa Corporal , Diabetes Mellitus Tipo 2
13.
Eur J Gastroenterol Hepatol ; 15(4): 355-62, 2003 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-12655254

RESUMEN

OBJECTIVE: To discover the therapeutic strategies for Crohn's disease used in Spain and to analyse the factors associated with the use of each treatment. DESIGN: Observational, cross-sectional study of patients with Crohn's disease who attended hospitals in Spain. METHODS: Two structured questionnaires were used, one completed by gastroenterologists about demographic clinical data and disease activity, and the other a telephone interview with the patients to obtain epidemiological and drug utilization data. RESULTS: A total of 635 patients from 39 hospitals were included. Aminosalicylates (77%) and corticosteroids (41%) were the most commonly used drugs. Monotherapy was used in 52% of the patients and was associated with less severe disease and relapse. Aminosalicylate use was associated with relapse and associated inversely with use of immunosuppressors. Corticosteroid use was associated with relapse, disease activity, and emergency visit frequency, and associated inversely with perianal disease. Use of immunosuppressors was associated with perianal disease, chronic active disease, and routine visit frequency, and associated inversely with aminosalicylate use. Antibiotic use was associated with relapse, perianal disease, chronic active disease and hospitalization. CONCLUSION: Aminosalicylates, corticosteroids and a combination of both drugs are the drugs used most frequently against Crohn's disease in Spain. Gender, age, clinical pattern and location were not associated with the type of drug used either in monotherapy or in combined therapy.


Asunto(s)
Corticoesteroides/uso terapéutico , Ácidos Aminosalicílicos/uso terapéutico , Enfermedad de Crohn/tratamiento farmacológico , Fármacos Gastrointestinales/uso terapéutico , Corticoesteroides/efectos adversos , Adulto , Ácidos Aminosalicílicos/efectos adversos , Antibacterianos/efectos adversos , Antibacterianos/uso terapéutico , Estudios Transversales , Quimioterapia Combinada , Femenino , Fármacos Gastrointestinales/efectos adversos , Humanos , Inmunosupresores/efectos adversos , Inmunosupresores/uso terapéutico , Masculino , Recurrencia , España , Encuestas y Cuestionarios
16.
Arch Neurol ; 59(6): 966-70, 2002 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-12056932

RESUMEN

BACKGROUND: Several genetic errors in alpha-synuclein (Park1) and ubiquitin carboxyl-terminal-hydrolase L1(Park5) genes cause autosomal dominant familial Parkinson disease. Mutations in the parkin gene (Park2) are the major cause of autosomal recessive Parkinson disease. OBJECTIVE: To analyze the clinical and molecular data of 19 Spanish kindreds (13 with recessive, 4 with dominant, and 2 with uncertain inheritance) who have familial Parkinson disease. METHODS: We searched for the previously described mutations in Park1 and Park5 genes and for new or described mutations in Park2. We used single-strand conformation polymorphism, direct sequencing, and restriction digestion of polymerase chain reaction (PCR)-amplified genomic DNA for this study. RESULTS: None of these families have either Park1 or Park5 mutations. We found 5 different mutations in Park2 gene in 5 of the families with recessive inheritance. To our knowledge, 2 of these mutations, V56E and C212Y, have not been previously reported. The other mutations found (deletion of exons 3 and 5 and 225delA) have been described in other ethnic groups. Heterozygous carriers of a single Park2 mutation either were asymptomatic or developed clinical symptoms in late adulthood or after brief exposure to haloperidol therapy. CONCLUSIONS: Mutations in Park2 gene account for 38% of the families with recessive parkinsonism in Spain. We found 2 cases of simple heterozygous Park2 mutation carriers that developed clinical symptoms, either in late adulthood or after brief exposure to parkinsonizing agents. Thus, hereditary Parkinson disease has more variable clinical phenotype and molecular defects than previously thought since heterozygous mutations could be a risk factor for parkinsonism.


Asunto(s)
Trastornos Parkinsonianos/genética , Adulto , Anciano , Sustitución de Aminoácidos/genética , Southern Blotting , Análisis Mutacional de ADN , Femenino , Tamización de Portadores Genéticos , Humanos , Masculino , Mutación/genética , Proteínas del Tejido Nervioso/genética , Trastornos Parkinsonianos/enzimología , Trastornos Parkinsonianos/metabolismo , Linaje , Fenotipo , Polimorfismo de Nucleótido Simple , Polimorfismo Conformacional Retorcido-Simple , España , Sinucleínas , Tioléster Hidrolasas/genética , Ubiquitina Tiolesterasa , alfa-Sinucleína
17.
J Am Acad Dermatol ; 46(5 Suppl): S148-50, 2002 May.
Artículo en Inglés | MEDLINE | ID: mdl-12004297

RESUMEN

Specific and nonspecific panniculitis sometimes occurs during the course of connective tissue diseases. However, the association of panniculitis and dermatomyositis (DM) has only rarely been described. Previous reports have suggested that panniculitis may be an inherent part of DM but, because the cases reported are few, it is difficult to know the significance of this unusual association. We describe 2 patients with DM in whom panniculitis developed during the course of the disease, and discuss its clinical and diagnostic significance.


Asunto(s)
Dermatomiositis/complicaciones , Dermatomiositis/patología , Paniculitis/etiología , Paniculitis/patología , Adulto , Anciano , Anciano de 80 o más Años , Biopsia con Aguja , Dermatomiositis/tratamiento farmacológico , Femenino , Estudios de Seguimiento , Humanos , Paniculitis/tratamiento farmacológico , Prednisona/administración & dosificación
19.
Tampa, Florida; Organización Panamericana de la Salud; 1999. 201 p. ilus.
Monografía en Español | PAHO | ID: pah-30298
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