Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management.

BACKGROUND: Niemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase. CASE PRESENTATION: We present a case of NPD type B with a unique compound heterozygosity for SMPD1 (NM_000543.4:c.[84delC];[96G > A]) in which both mutations that induce an early stop codon are located before the second in-frame initiation codon. The clinical presentation of the patient is compatible with NPD type B. She was initially diagnosed of Gaucher Disease, but her altered lipid profile led to a clinical suspicion of NPD. Combined high doses of atorvastatin and ezetimibe were given to treat the severe hypercholesterolemia. CONCLUSIONS: The pharmacological management of the lipid profile in these patients is important. A unique compound mutation in SMPD1 gene is described.

[Influence of systemic corticosteroid administration in the prognosis of patients with community-acquired pneumonia]. / Influencia de la administración de corticoides sistémicos en el pronóstico de los pacientes con neumonía adquirida en la comunidad.

INTRODUCTION: Community-acquired pneumonia (CAP) is a common and potentially serious disease. In recent years, control of the inflammatory response has begun to be taken into account as a new therapeutic target. This study has aimed to analyze the influence of the administration of systemic corticosteroids on mortality of patients admitted with CAP in the common clinical practice. PATIENTS AND METHODS: A prospective observational study was carried out. The study included patients with CAP admitted to Internal Medicine and Pulmonology services of a tertiary hospital in 2007. Treatment given during admission was recorded and mortality during hospitalization and at 30 and 90 days after discharge was determined. RESULTS: A total of 257 patients, 179 men (69.6%) and 78 women (30.4%) were analyzed. Mean age was 72±15 years. Both in-hospital mortality as well as at 30 days of discharge was 10.2%, while overall mortality at 90 days was 14.8%. No relation was found between the use of corticosteroids and mortality. Use of corticosteroids also did not modify the length of hospital stay or readmission rate. CONCLUSIONS: It was observed in this study that treatment with corticosteroids in CAP is not associated with lower mortality and does not affect the rate of readmissions. It also does not change the length of hospital stay.

[Prevalence of inapropriate LDL cholesterol levels in patients with coronary disease and/or type 2 diabetes]. / Prevalencia de colesterol LDL inadecuado en pacientes con enfermedad coronaria y/o diabetes mellitus tipo 2.

BACKGROUND AND OBJECTIVE: Clinical practice guidelines recommend achieving concentrations of LDL cholesterol less than 100 mg/dl (and in some cases less than 70 mg/dl) in patients with coronary artery disease and/or diabetes mellitus type 2 (DM2). We have examined the compliance with these objectives in patients treated in Spain with these conditions. METHODS: Cross-sectional epidemiological study. Data were obtained during the visit of the study or, in their absence, based on data contained in the medical record by 874 doctors of the 17 autonomous communities in Spain. Demographic information, risk factors, cardiovascular and prescribed treatments were collected. RESULTS: In the final analysis 6.988 (62.7% male) patients were included. 2586 (37%) had coronary disease, 2654 (38%) DM2 and 1748 (25%) both conditions. 65% had metabolic syndrome. Vascular risk factors median number was 4. 57% and 86% showed a concentration of LDL cholesterol >100 and >70 mg/dl respectively. The proportion patients with LDL concentration >100 mg/dl was 4% greater in the DM2 (62.4%) than in coronary patients (57.1%; p0.0001). Concentration of triglycerides >150 mg/dl was higher in patients with DM2 (50.5%) than in coronary patients (43.5%; p0.0001). The proportion of patients with LDL>70 mg/dl was similar in the coronary group and in the DM2 Group (88.4% and 87.0%, respectively). More than half of patients with coronary heart disease (57.5%) or DM2 (55.7%) showed inadequate levels of HDL (<40 mg/dl men; <50 mg/dl women). CONCLUSIONS: More than a half of patients with diabetes mellitus and/or coronary artery disease enrolled in the CODIMET study do not achieve the recommended LDL cholesterol target for high cardiovascular risk patients.

[2010. What novelties are there in vascular risk?]. / 2010: ¿Qué ha habido de nuevo en riesgo vascular?

This paper gathers the news concerning vascular risk in 2010. It summarizes five lectures, according to the order of presentation, at the annual meeting of the vascular risk working group of the Spanish Society of Internal Medicine (SEMI, Valencia 5(th) and 6(th) May 2011): arterial hypertension, antithrombosis, lipid disorders, diabetes mellitus and vascular risk stratification. The authors have made a depth revision of the more relevant research been published in 2010 with some data of 2011.

Monitoring anti-Xa levels in patients with cancer-associated venous thromboembolism treated with bemiparin.

OBJECTIVE: To analyze the relationship between therapeutic (weight-adjusted) dose of bemiparin and anti-Xa activity in patients with venous thromboembolism (VTE) and cancer in comparison with a cohort of patients with VTE without cancer, and its relationship with outcomes. MATERIALS AND METHODS: This is a prospective cohort study that comprised a cohort of patients with cancer-associated VTE and a cohort of non-cancer patients with VTE, all of them treated with bemiparin. The ethics committee approved the study and informed consent was obtained from the patients. RESULTS: One hundred patients were included (52 with cancer and 48 without cancer), with a median follow-up of 9.8 months. Mean anti-Xa activity was 0.89 (± 0.33) UI/mL in oncological patients and 0.83 (± 0.30) UI/mL in non-cancer patients (mean difference - 0.05 95% CI - 0.18; 0.06). A multiple linear regression model showed that anti-Xa peak was associated with the dose/kg independently of possible confounding variables (presence of cancer, age, sex and eGFR-estimated Glomerular Filtration Rate), in a way that for every 1 UI of dose/kg increase, the anti-Xa peak activity increased 0.006 UI/mL (95% CI 0.003; 0.009) (p < 0.001). The predictive capacity of anti-Xa peak in the oncology cohort showed an area under the ROC curve of 0.46 (95% CI 0.24-0.68), 0.70 (95% CI 0.49-0.91) and 0.74 (95% CI 0.44-0.94) for death, first bleeding and recurrence of VTE, respectively, and none was statistically significant. CONCLUSION: In patients with venous thromboembolism treated with bemiparin, anti-Xa levels were not influenced by the presence of cancer.

Incidence of asymptomatic deep vein thrombosis in patients with COVID-19 pneumonia and elevated D-dimer levels.

AIM: An increased risk of venous thromboembolism (VTE) in patients with COVID-19 pneumonia admitted to intensive care unit (ICU) has been reported. Whether COVID-19 increases the risk of VTE in non-ICU wards remains unknown. We aimed to evaluate the burden of asymptomatic deep vein thrombosis (DVT) in COVID-19 patients with elevated D-dimer levels. METHOD: In this prospective study consecutive patients hospitalized in non-intensive care units with diagnosis of COVID-19 pneumonia and D-dimer > 1000 ng/ml were screened for asymptomatic DVT with complete compression doppler ultrasound (CCUS). The study was approved by the Institutional Ethics Committee. RESULTS: The study comprised 156 patients (65.4% male). All but three patients received standard doses of thromboprophylaxis. Median days of hospitalization until CCUS was 9 (IQR 5-17). CCUS was positive for DVT in 23 patients (14.7%), of whom only one was proximal DVT. Seven patients (4.5%) had bilateral distal DVT. Patients with DVT had higher median D-dimer levels: 4527 (IQR 1925-9144) ng/ml vs 2050 (IQR 1428-3235) ng/ml; p < 0.001. D-dimer levels > 1570 ng/ml were associated with asymptomatic DVT (OR 9.1; CI 95% 1.1-70.1). D-dimer showed an acceptable discriminative capacity (area under the ROC curve 0.72, 95% CI 0.61-0.84). CONCLUSION: In patients admitted with COVID-19 pneumonia and elevated D-dimer levels, the incidence of asymptomatic DVT is similar to that described in other series. Higher cut-off levels for D-dimer might be necessary for the diagnosis of DVT in COVID-19 patients.

[Evidence of the efficacy of hypocholesterolemic treatment in primary and secondary prevention of ischemic heart disease]. / Evidencias de la eficacia del tratamiento hipocolesterolemiante en la prevención primaria y secundaria de la cardiopatía isquémica.

Good clinical medicine is, nowadays, not based on personal experiences, but in the results of broad prospective controlled studies considering the experience of many professionals, which in the case of new therapeutic options are named clinical trials. Several evidences of the determinant role of cholesterol in the development of atherosclerosis are reviewed. Pathologic studies illustrate the presence of cholesterol in atheroma plaques, with a good correlation between the severity of lesions and the amount of cholesterol in the plaques. Animal experiences demonstrate that hypercholesterolemia, rarely spontaneous, usually induced with dietary modifications, induces atherosclerosis in animals. Observation of patients with genetic-based hypercholesterolemia shows a high frequency of coronary atherosclerosis among them, and the broad cohort studies corroborate a good correlation between cholesterolemia and coronary heart disease. Finally, hypolipidemic intervention trials, mainly with drugs, and specially with statins, have clearly defined the benefits in coronary risk reduction.

[Variability of polyphenol content in different types of wine and its potential application in the understanding of its biologic effects]. / Variabilidad del contenido de polifenoles de distintos tipos de vino y su potencial aplicación al conocimiento de sus efectos biológicos.

BACKGROUND: Wine polyphenols have antioxidant properties. Different polyphenols have various biological activities on atherogenesis and carcinogenesis. MATERIAL AND METHODS: The composition on 5 polyphenols of 16 wines of Castilla (Spain) is determined by HPLC. RESULTS: Polyphenols concentrations varied largely among the different wines. Most red wines had higher amounts of polyphenols than white wines. CONCLUSIONS: The diverse composition on polyphenols of each wine allows to suggest different biological effects.

[Autoimmune hemolytic anemia: a rare complication of ulcerative colitis]. / Anemia hemolítica autoinmune: una rara complicación de la colitis ulcerosa.

Anaemia is a common problem in patients with ulcerative colitis, and its etiology is usually multifactorial. It can be produced by chronic blood loss, nutritional deficiencies, drugs such as salazopyrine, or it can be related to those chronic disease. However, ulcerative colitis is known to be associated with several immune disorders, as autoimmune haemolytic anaemia. Nevertheless, this rare complication can be found in 0.2 to 0.7% of patients affected by ulcerative colitis, and although 1.82% of patients with ulcerative colitis have a positive direct Coombs test without evidence of hemolysis. We report one new case of ulcerative colitis associated with autoimmune anaemia haemolytic, and a review the literature.

Influencia de la administración de corticoides sistémicos en el pronóstico de los pacientes con neumonía adquirida en la comunidad / Influence of systemic corticosteroid administration in the prognosis of patients with community-acquired pneumonia

Introducción. La neumonía adquirida en la comunidad (NAC) es una afección común y potencialmente grave. En los últimos años ha empezado a tenerse en cuenta el control de la respuesta inflamatoria como un nuevo objetivo terapéutico en esta enfermedad. El objetivo de este estudio fue analizar la influencia de la administración de corticoides sistémicos sobre la mortalidad de los pacientes ingresados con NAC en condiciones de práctica clínica habitual. Pacientes y métodos. Estudio prospectivo observacional en el que se recogieron casos de NAC en pacientes ingresados en los servicios de Medicina Interna y Neumología de un hospital terciario a lo largo del año 2007. Se registró el tratamiento administrado durante su ingreso y se determinó la mortalidad hospitalaria, así como a los 30 y 90 días del alta hospitalaria. Resultados. Se analizaron 257 pacientes, 179 varones (69,6%) y 78 mujeres (30,4%). La edad media fue de 72±15 años. Tanto la mortalidad hospitalaria como a los 30 días del alta fue del 10,2%, mientras que la mortalidad global a los 90 días fue del 14,8%. No se encontró relación entre el empleo de corticoides y la mortalidad. El uso de corticoides tampoco modificó los días de estancia hospitalaria ni la tasa de reingresos. Conclusiones. En este estudio se ha observado que el tratamiento con corticoides sistémicos en la NAC no se asocia con una menor mortalidad ni influye en la tasa de reingresos. Tampoco modifica la duración de la estancia hospitalaria(AU)

Introduction. Community-acquired pneumonia (CAP) is a common and potentially serious disease. In recent years, control of the inflammatory response has begun to be taken into account as a new therapeutic target. This study has aimed to analyze the influence of the administration of systemic corticosteroids on mortality of patients admitted with CAP in the common clinical practice. Patients and methods. A prospective observational study was carried out. The study included patients with CAP admitted to Internal Medicine and Pulmonology services of a tertiary hospital in 2007. Treatment given during admission was recorded and mortality during hospitalization and at 30 and 90 days after discharge was determined. Results. A total of 257 patients, 179 men (69.6%) and 78 women (30.4%) were analyzed. Mean age was 72±15 years. Both in-hospital mortality as well as at 30 days of discharge was 10.2%, while overall mortality at 90 days was 14.8%. No relation was found between the use of corticosteroids and mortality. Use of corticosteroids also did not modify the length of hospital stay or readmission rate. Conclusions. It was observed in this study that treatment with corticosteroids in CAP is not associated with lower mortality and does not affect the rate of readmissions. It also does not change the length of hospital stay(AU)

Prevalencia de colesterol LDL inadecuado en pacientes con enfermedad coronaria y/o diabetes mellitus tipo 2 / Prevalence of inapropriate LDL cholesterol levels in patients with coronary disease and/or type 2 diabetes

Antecedentes y objetivo. Las guías de práctica clínica aconsejan conseguir concentraciones de colesterol LDL (cLDL) menor de 100mg/dl (y en ciertos casos menor de 70mg/dl) en pacientes con enfermedad coronaria y/o diabetes mellitus tipo 2 (DM2). Hemos examinado el cumplimiento de estos objetivos en enfermos atendidos en España con estas afecciones. Métodos. Estudio epidemiológico transversal. Los datos se obtuvieron en la visita del estudio o, en su defecto, a partir de datos que constaban en la historia clínica. Participaron 874 médicos de 17 comunidades autónomas de España. Se recogieron datos demográficos, factores de riesgo cardiovascular y tratamientos prescritos. Resultados. En el análisis final se incluyeron 6.988 pacientes (varones, 62,7%) de los cuales 2.586 (37%) tenían enfermedad coronaria, 2.654 (38%) DM2 y 1.748 (25%) ambas afecciones. El 65% tenían síndrome metabólico y la mediana de factores de riesgo vascular fue de 4. Un 57 y un 86% mostraron una concentración de cLDL>100 y>70 mg/dl, respectivamente. La proporción de pacientes con cLDL>100mg/dl fue un 4% superior en el grupo DM2 (62,4%) que entre los enfermos coronarios (57,1%; p<0,0001). La concentración de triglicéridos >150mg/dl fue superior entre los enfermos con DM2 (50,5%), que entre los enfermos coronarios (43,5%; p<0,0001). La proporción de pacientes con cLDL>70mg/dl fue similar en el grupo coronario y en el grupo DM2 (88,4 y 87,0%, respectivamente). Algo más de la mitad de los enfermos con afección coronaria (57,5%) o DM2 (55,7%) mostraron unos niveles de HDL inadecuados (varones, <40mg/dl; mujeres, <50mg/dl). Conclusiones. Más de la mitad de los pacientes con diabetes mellitus y/o arteriopatía coronaria incluidos en el estudio CODIMET no alcanzan el objetivo de colesterol LDL recomendado para pacientes de alto riesgo cardiovascular(AU)

Background and objective. Clinical practice guidelines recommend achieving concentrations of LDL cholesterol less than 100mg/dl (and in some cases less than 70mg/dl) in patients with coronary artery disease and/or diabetes mellitus type 2 (DM2). We have examined the compliance with these objectives in patients treated in Spain with these conditions. Methods. Cross-sectional epidemiological study. Data were obtained during the visit of the study or, in their absence, based on data contained in the medical record by 874 doctors of the 17 autonomous communities in Spain. Demographic information, risk factors, cardiovascular and prescribed treatments were collected. Results. In the final analysis 6.988 (62.7% male) patients were included. 2586 (37%) had coronary disease, 2654 (38%) DM2 and 1748 (25%) both conditions. 65% had metabolic syndrome. Vascular risk factors median number was 4. 57% and 86% showed a concentration of LDL cholesterol >100 and >70mg/dl respectively. The proportion patients with LDL concentration >100mg/dl was 4% greater in the DM2 (62.4%) than in coronary patients (57.1%; p0.0001). Concentration of triglycerides >150mg/dl was higher in patients with DM2 (50.5%) than in coronary patients (43.5%; p0.0001). The proportion of patients with LDL>70mg/dl was similar in the coronary group and in the DM2 Group (88.4% and 87.0%, respectively). More than half of patients with coronary heart disease (57.5%) or DM2 (55.7%) showed inadequate levels of HDL (<40mg/dl men; <50mg/dl women). Conclusions. More than a half of patients with diabetes mellitus and/or coronary artery disease enrolled in the CODIMET study do not achieve the recommended LDL cholesterol target for high cardiovascular risk patients(AU)

2010: ¿Qué ha habido de nuevo en riesgo vascular? / 2010. What novelties are there in vascular risk?

Este artículo recoge las novedades que se han producido en riesgo vascular en el año 2010. Resume cinco ponencias, en el orden que se expusieron, en la reunión anual del grupo de trabajo de riesgo vascular de la Sociedad Española de Medicina Interna (Valencia, 5 y 6 mayo 2010): hipertensión arterial antitrombosis, lípidos, diabetes mellitus y estratificación del riesgo vascular. Los autores han revisado en profundidad las investigaciones más relevantes publicadas en 2010 con algunos datos del año 2011(AU)

This paper gathers the news concerning vascular risk in 2010. It summarizes five lectures, according to the order of presentation, at the annual meeting of the vascular risk working group of the Spanish Society of Internal Medicine (SEMI, Valencia 5th and 6th May 2011): arterial hypertension, antithrombosis, lipid disorders, diabetes mellitus and vascular risk stratification. The authors have made a depth revision of the more relevant research been published in 2010 with some data of 2011(AU)

Criterios profesionales sobre el papel de ezetimiba en el manejo clínico del paciente dislipémico en el ámbito de atención primaria / Professional criteria about the role of ezetimibe in clinical management of dyslipidemia in primary care

Introducción: A pesar de que ezetimiba fue introducida en España hace más de 5 años, existen todavía diferencias de criterio sobre el papel actual de este fármaco en el manejo de la dislipemia en atención primaria. Objetivos: Promover un consenso sobre el uso clínico de ezetimiba entre profesionales de atención primaria. Material y métodos: El estudio fue dividido en cuatro fases: 1) creación de un comité científico multidisciplinar (atención primaria, endocrinología y medicina interna) para revisión bibliográfica y formulación de un uestionario de 46 ítems sobre dislipemia y ezetimiba; 2) selección del panel de 91 médicos de atención primaria expertos en este campo; 3) encuesta Delphi en dos rondas, enviada por correo electrónico, y 4) sesión presencial final de discusión de resultados. Resultados: Participaron 87 profesionales que, en la primera ronda, lograron consensuar 34 de las 46 cuestiones analizadas. Tras la interacción del panel, el consenso aumentó hasta 42 ítems. En las 4 cuestiones restantes el consenso fue insuficiente, debido a las opiniones dispares o a la ausencia de criterio en la mayoría de los encuestados. Conclusiones: En este consenso, se presenta una amplia lista de criterios profesionales y/o recomendaciones para el uso de ezetimiba en atención primaria, que resumen la opinión profesional vigente entre los expertos de esta especialidad (AU)

Background: Since ezetimibe was first marketed in Spain more than 5 years ago, differences in criteria continue to exist about the current role played by ezetimibe in treating dyslipaemia in the primary care in Spain. Objectives: To develop consensus regarding the clinical use of ezetimibe in treating dyslipaemia in primary care. Methods: The study was divided into four stages: 1) constitution of a multidisciplinary scientific committee (primary care, endocrinology, internal medicine) for bibliographic review and formulation of a 46-items survey about dyslipaemia and ezetimibe; 2) constitution of a panel of 84 primary care professionals with expertise in this field; 3) Delphi survey in two rounds, sent by mail; and 4) a final discussion of the results in a face-to-face meeting. Results: Eighty-seven experts participated and, during the first round, reached a consensus in 34 out of 46 analysed questions. Following interaction by the panel, the consensus increased until 42 items. In the remaining 4 questions, insufficient consensus was obtained, due to opinion disparities existing among the professionals or to the absence of an established criterion for most of the experts. Conclusions: In this consensus, a long list of professional criteria and/or recommendations is included for the use of ezetimibe in primary care, summarising prevailing professional opinion of primary care experts (AU)

Anemia hemolítica autoinmune: una rara complicación de la colitis ulcerosa / Autoinmune anaemia haemolytic: a rare complication of ulcerative colitis

La anemia constituye un hallazgo frecuente en los pacientes con colitis ulcerosa, y su etiología suele ser multifactorial. Puede deberse a un sangrado crónico, a déficits nutricionales, a la toma de determinada medicación como la salazopirina, o bien tratarse de una anemia relacionada con una enfermedad de cáracter crónico como viene a serlo la colitis ulcerosa. Sin embargo, esta enfermedad se asocia frecuentemente a diversos trastornos inmunológicos, entre ellos, la anemia hemolítica autoinmune. Esta complicación, aunque rara, puede hallarse en el 0,2 al 0,7 por ciento de los pacientes afectos de colitis ulcerosa, y hasta en un 1,82 por ciento de los pacientes con esta enfermedad pueden presentar un test de Coombs directo positivo sin evidencia de hemolisis. Presentamos un nuevo caso de un paciente con colitis ulcerosa y anemia hemolítica autoinmune (AU)