Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.

Pompe disease is a rare genetic disorder with an estimated prevalence of 1:60.000. The two main phenotypes are Infantile Onset Pompe Disease (IOPD) and Late Onset Pompe Disease (LOPD). There is no published data from Spain regarding the existing number of cases, regional distribution, clinical features or, access and response to the treatment. We created a registry to collect all these data from patients with Pompe in Spain. Here, we report the data of the 122 patients registered including nine IOPD and 113 LOPD patients. There was a high variability in how the diagnosis was obtained and how the follow-up was performed among different centres. Seven IOPD patients were still alive being all treated with enzymatic replacement therapy (ERT) at last visit. Ninety four of the 113 LOPD patients had muscle weakness of which 81 were receiving ERT. We observed a progressive decline in the results of muscle function tests during follow-up. Overall, the Spanish Pompe Registry is a valuable resource for understanding the demographics, patient's journey and clinical characteristics of patients in Spain. Our data supports the development of agreed guidelines to ensure that the care provided to the patients is standardized across the country.

Screening for late-onset Pompe disease in Internal Medicine departments in Spain.

BACKGROUND: The screening of high-risk populations using dried blood spots (DBS) has allowed the rapid identification of patients with Pompe disease, mostly in Neurology departments. The aim of the study was to determine the prevalence of late-onset Pompe disease (LOPD) among patients not previously diagnosed or tested for this entity despite presenting possible signs or symptoms of the disease in Internal Medicine departments in Spain. METHODS: This epidemiological, observational, cross-sectional, multicenter study included a single cohort of individuals with clinical suspicion of LOPD seen at Internal Medicine departments in Spain. The diagnosis of LOPD was initially established on the basis of the result of DBS. If decreased enzyme acid-alpha-1,4-glucosidase (GAA) activity was detected in DBS, additional confirmatory diagnostic measurements were conducted, including GAA activity in lymphocytes, fibroblasts, or muscle and/or genetic testing. RESULTS: The diagnosis of LOPD was confirmed in 2 out of 322 patients (0.6%). Reasons for suspecting LOPD diagnosis were polymyositis or any type of myopathy of unknown etiology (in one patient), and asymptomatic or pauci-symptomatic hyperCKemia (in the other). The time between symptom onset and LOPD diagnosis was 2.0 and 0.0 years. Both patients were asymptomatic, with no muscle weakness. Additionally, 19.7% of the non-LOPD cases received an alternative diagnosis. CONCLUSIONS: Our study highlights the existence of a hidden population of LOPD patients in Internal Medicine departments who might benefit from early diagnosis and early initiation of potential treatments.

COVID-19 in older adults: What are the differences with younger patients?

AIM: The present study aimed both to gain knowledge on the distinctive clinical characteristics of older adults with coronavirus disease 2019 (COVID-19), in comparison with those of younger patients, and to identify risk factors for mortality. METHODS: A retrospective observational study was carried out of patients consecutively admitted to Doctor Peset University Hospital, Valencia (Spain) for COVID-19 from 11 March to 28 April 2020. Every case was diagnosed by reverse transcription polymerase chain reaction or by serology test to detect antibodies. Demographic details, clinical characteristics, laboratory findings on admission and complications of each case were collected from electronic medical records. RESULTS: The dataset comprised 340 patients. Of them, 152 (44.6%) were aged >70 years. Comorbidities were more common in the older groups. Confusion was more common in older adults, whereas typical symptoms of COVID-19, such as fever, cough and myalgia, were less common. Oxygen saturation ≤93% on room air, neutrophilia, D-dimer >0.5 µg/mL, creatinine >1.5 mg/dL, lactate dehydrogenase ≥250 U/L and elevation of creatine kinase were higher in the older adult groups. Complications during hospitalization, such as acute respiratory distress syndrome (53.3% vs 33.2%, P < 0.001), acute kidney injury (11.8% vs 5.3%; P = 0.030) and mortality (28.9% vs 6.5%; P < 0.001) were more common in patients aged >70 years. Oxygen saturation ≤93% on room air on admission was a predictor of mortality (odds ratio 11.65, 95% confidence interval 3.26-41.66, P < 0.001) in patients aged >70 years. CONCLUSIONS: Older adults with COVID-19 have more atypical presentation, more complications and higher mortality. Oxygen saturation ≤93% on room air on admission is a predictive factor of death. Geriatr Gerontol Int 2021; 21: 60-65.

Frequency, risk factors, and outcomes of hospital readmissions of COVID-19 patients.

To determine the proportion of patients with COVID-19 who were readmitted to the hospital and the most common causes and the factors associated with readmission. Multicenter nationwide cohort study in Spain. Patients included in the study were admitted to 147 hospitals from March 1 to April 30, 2020. Readmission was defined as a new hospital admission during the 30 days after discharge. Emergency department visits after discharge were not considered readmission. During the study period 8392 patients were admitted to hospitals participating in the SEMI-COVID-19 network. 298 patients (4.2%) out of 7137 patients were readmitted after being discharged. 1541 (17.7%) died during the index admission and 35 died during hospital readmission (11.7%, p = 0.007). The median time from discharge to readmission was 7 days (IQR 3-15 days). The most frequent causes of hospital readmission were worsening of previous pneumonia (54%), bacterial infection (13%), venous thromboembolism (5%), and heart failure (5%). Age [odds ratio (OR): 1.02; 95% confident interval (95% CI): 1.01-1.03], age-adjusted Charlson comorbidity index score (OR: 1.13; 95% CI: 1.06-1.21), chronic obstructive pulmonary disease (OR: 1.84; 95% CI: 1.26-2.69), asthma (OR: 1.52; 95% CI: 1.04-2.22), hemoglobin level at admission (OR: 0.92; 95% CI: 0.86-0.99), ground-glass opacification at admission (OR: 0.86; 95% CI:0.76-0.98) and glucocorticoid treatment (OR: 1.29; 95% CI: 1.00-1.66) were independently associated with hospital readmission. The rate of readmission after hospital discharge for COVID-19 was low. Advanced age and comorbidity were associated with increased risk of readmission.

Inadequate empirical antimicrobial treatment in older people with bacteremic urinary tract infection who reside in nursing homes: A multicenter prospective observational study.

AIM: The aim of the study was to determine the rate of inadequate empirical antimicrobial treatment in older nursing home residents with bacteremic urinary tract infection and its influence on prognosis. METHODS: We carried out a multicentric prospective observational study in five Spanish hospitals. Patients aged >65 years with pyelonephritis or urinary sepsis with bacteremia were included. Clinical characteristics, the percentage of inadequate empirical antibiotic treatment, length of hospital stay and mortality were evaluated. RESULTS: A total of 181 patients, 54.7% women, were included in the study, and 35.9% of the patients came from nursing homes. These patients had higher percentages of ultimately or rapidly fatal disease (92.3% vs 53.4%; P < 0.001), were older (83.15 ± 6.97 years vs 79.34 ± 7.25 years; P = 0.001) and had higher Acute Physiology And Chronic Health Evaluation II (28.38 ± 8.57 vs 19.83 ± 5.88). The percentage of extended-spectrum beta-lactamases was higher in patients from nursing homes (30.6% vs 16.3%; P = 0.045), as was the percentage of inadequate empirical antibiotic treatment (40% vs 20.7%; P = 0.005). Length of hospital stay was longer (10.82 ± 3.62 days vs 9.04 ± 4.88 days; P < 0.001). However, 30-day mortality was not related to nursing home by multivariate analysis (OR 1.905, 95% CI 0.563-6.446; P = 0.300). CONCLUSIONS: Nursing home patients with bacteremic urinary tract infections had a higher rate of extended-spectrum beta-lactamase-producing enterobacteriacea and inadequate empirical antimicrobial treatment. Clinicians should consider these findings and avoid inappropriate antimicrobial agents for empirical treatment. Geriatr Gerontol Int 2019; 19: 1112-1117.

The clinical impact of bacteremia on outcomes in elderly patients with pyelonephritis or urinary sepsis: A prospective multicenter study.

BACKGROUND: Bacteremia is common in severe urinary infections, but its influence on the outcomes is not well established. The aim of this study was to assess the association of bacteremia with outcomes in elderly patients admitted to hospital with pyelonephritis or urinary sepsis. METHODS: This prospective muticenter observational study was conducted at 5 Spanish hospitals. All patients aged >65 years with pyelonephritis or urinary sepsis admitted to the departments of internal medicine and with urine and blood cultures obtained at admission to hospital were eligible. Transfer to ICU, length of hospital stay, hospital mortality and all cause 30-day mortality in bacteremic and non-bacteremic groups were compared. Risk factors for all cause 30-day mortality was also estimated. RESULTS: Of the 424 patients included in the study 181 (42.7%) had bacteremia. Neither transfer to ICU (4.4% vs. 2.9%, p = 0.400), nor length of hospital stay (9.7±4.6 days vs. 9.0±7.3 days, p = 0.252), nor hospital mortality (3.3% vs. 6.2%, p = 0.187), nor all cause 30-day mortality (9.4% vs. 13.2%, p = 0.223) were different between bacteremic and non-bacteremic groups. By multivariate analysis, risk factors for all cause 30-day mortality were age (OR 1.05, 95% CI 1.00-1.10), McCabe index ≥2 (OR 10.47, 95% CI 2.96-37.04) and septic shock (OR 8.56, 95% CI 2.86-25.61); whereas, bacteremia was inversely associated with all cause 30-day mortality (OR 0.33, 95% CI 0.15-0.71). CONCLUSIONS: In this cohort, bacteremia was not associated with a worse prognosis in elderly patients with pyelonephritis or urinary sepsis.

[C-reactive protein changes with antihypertensive and statin treatment]. / Variaciones de la proteína C reactiva inducidas por el tratamiento antihipertensivo e hipolipemiante.

BACKGROUND AND OBJECTIVE: The aim of this study was to evaluate the modifications of high sensitivity C-reactive protein (CRP) with antihypertensive and statin treatment in a hypertensive population with a wide range of coronary risks (CR). PATIENTS AND METHOD: Retrospective follow-up study in 665 hypertensive patients: 556 (52% male) without dyslipidemia and CR (Framingham at 10 years) of 8.3 (7.6) as a control group (C) and 109 (61% male) with dyslipidemia and CR of 13.1 (8.8) who were treated with statins (T). Statins treatment was established according to NCEP-ATP-III. In both groups, the antihypertensive treatment was optimized in order to achieve blood pressure (BP) control (< 140/90 mmHg). A lipid profile and high sensitivity CRP (analyzed by nephelometry) was performed at the beginning and at the end of follow up [14.3 (3.6) months]. RESULTS: CRP levels were reduced in the T group -0.17 (0.2) mg/L vs. 0.14 (0.09) mg/L (p = 0.003, Mann-Whitney) in C. The lessening of CRP was not related to the reduction of lipids levels: total cholesterol (r = 0.06; p = 0.49), LDL-C (r = 0.11; p = 0.24), triglycerides (r = -0.02; p = 0.81) (Spearman), or to the reduction of systolic BP (r = -0.07; p = 0.44) and diastolic BP (r = -0.121; p = 0.21). The T group was treated with more antihypertensive drugs than C (2.2 [2.3] vs. 2.5 [1.2]; p = 0.02). Patients treated with ECA inhibitors or angiotensin II antagonist showed a tendency to decreasing the CRP levels more (p = 0.08). CONCLUSION: In hypertensive populations, statins induce a reduction of CRP levels. The reduction is not related to the lowering of lipids levels or BP values. The effect of statins on the reduction of CRP in hypertensive patients is not related to the lowering of lipids or BP.

[Clinical use of statins and cholesterol goals in patients with several cardiovascular risk factors]. / Uso clínico de las estatinas y objetivos terapéuticos en relación con el riesgo cardiovascular.

BACKGROUND AND OBJECTIVE: Our goal was to determine the number of patients who achieve low-density lipoprotein cholesterol (LDL-c) targets according to new guidelines. PATIENTS AND METHOD: Descriptive and transversal study of patients from a cardiovascular clinic. LDL-c was calculated and targets were established according the NCEP-ATP III. RESULTS: 1,811 patients (46% males, 54% females) were studied. 35% of these were high-risk patients (group 1: coronary risk > 20% at 10 years), 19% were intermediate-risk patients (group 2: coronary risk 10-20% at 10 years) and 46% were low-risk patients (group 3: coronary risk < 10% at 10 years). Overall, 58% of patients achieved target LDL-c levels, yet success rates were 26% among group 1 patients, 51% among group 2 patients, and 86% among group 3 patients (p = 0.001, for differences between groups). Statin treatment was significantly related to achieving target LDL-c levels in group 1 patients (OR = 1.7; 95% CI, 1.2-2.4; p = 0.007). In group 1.41% of patients had LDL-c levels > 130 mg/dl without receiving lipid-lowering drugs. CONCLUSIONS: Although an overall 58% patients achieve target LDL-C levels, only one of four high-risk patients have LDL-c levels < 100 mg/dl, and statin treatment is a determining factor to achieve this goal. These findings indicate that a more aggressive treatment with statins is needed in secondary prevention.

Variaciones de la proteína C reactiva inducidas por el tratamiento antihipertensivo e hipolipemiante / C-reactive protein changes with antihypertensive and statin treatment

Fundamento y objetivo: Valorar las alteraciones de la proteína C reactiva (PCR) inducidas por el tratamiento con estatinas y fármacos antihipertensivos en una población de hipertensos con riesgo coronario (RC) diverso. Pacientes y método: Estudio retrospectivo longitudinal de seguimiento en el que se incluyó a 665 pacientes con hipertensión arterial: 556 (52% varones) pacientes sin dislipemia y con RC (Framingham a los 10 años) de 8,3 (7,6) que se utilizaron como grupo control y 109 (un 61% varones) pacientes con dislipemia y RC de 13,1 (8,8) que recibieron tratamiento con estatinas. El tratamiento con estatinas se indicó de acuerdo con los criterios de RC según el National Cholesterol Education Program in Adults (Adults Treatment Panel III). En caso necesario se les optimizó el tratamiento antihipertensivo aumentando la dosis del fármaco que estaban tomando y/o añadiendo diurético. Al principio y al final del estudio, se determinó a todos los pacientes el perfil lipídico (colesterol total [CT], colesterol unido a lipoproteínas de alta densidad [c-HDL] y triglicéridos [TG]) y la PCR por un método de alta sensibilidad. El tiempo medio de seguimiento fue de 14,3 (3,6) meses. Resultados: Los valores de PCR disminuyeron en el grupo de tratamiento respecto al control (media de ­0,17 [0,2] frente a a 0,14 [0,09] mg/l; p = 0,003, prueba de la U de Mann-Whit-ney). En el grupo de tratamiento, el descenso de los valores de PCR no guardó relacion (coeficientes de correlacion de Spearman) con el descenso de los valores lipídicos: colesterol total (r = 0,06; p = 0,49), colesterol unido a lipoproteínas de baja densidad [cLDL] (r = 0,11; p = 0,24) y triglicéridos (r = ­0,02; p = 0,81). Para la variación de la presión arterial, los resultados fueron para la presión arterial sistólica, r = ­0,07 y p = 0,44, y para la presión arterial diastólica, r = ­0,121 y p = 0,21. El grupo de tratamiento recibió más fármacos antihipertensivos que el control (2,2 [2,3] frente a 2,5 [1,2]; p = 0,02). Al agrupar a los pacientes tratados con estatinas según el grupo farmacológico de antihipertensivos que recibían, los que tomaban inhibidores de la enzima conversiva de la angiotensina o antagonistas del receptor de la angiotensina de tipo II tuvieron una mayor tendencia a disminuir sus valores de PCR (p = 0,08) que el resto. Conclusión: En pacientes hipertensos, las estatinas inducen un descenso de los valores de la PCR. Dicho descenso no guardó relación con la disminución de los valores de colesterol total, cLDL, ni triglicéridos ni con la variación de la presión arterial. El efecto de la disminución de los valores de PCR inducido por estatinas en pacientes hipertensos es independiente de la disminución de los valores de LDL y de la presión arterial

Background and objective: The aim of this study was to evaluate the modifications of high sensitivity C-reactive protein (CRP) with antihypertensive and statin treatment in a hypertensive population with a wide range of coronary risks (CR). Patients and method: Retrospective follow-up study in 665 hypertensive patients: 556 (52% male) without dyslipidemia and CR (Framingham at 10 years) of 8.3 (7.6) as a control group (C) and 109 (61% male) with dyslipidemia and CR of 13.1 (8.8) who were treated with statins (T). Statins treatment was established according to NCEP-ATP-III. In both groups, the antihypertensive treatment was optimized in order to achieve blood pressure (BP) control (< 140/90 mmHg). A lipid profile and high sensitivity CRP (analyzed by nephelometry) was performed at the beginning and at the end of follow up [14.3 (3.6) months]. Results: CRP levels were reduced in the T group ­0.17 (0.2) mg/L vs. 0.14 (0.09) mg/L (p = 0.003, Mann-Whitney) in C. The lessening of CRP was not related to the reduction of lipids levels: total cholesterol (r = 0.06; p = 0.49), LDL-C (r = 0.11; p = 0.24), triglycerides (r = ­0.02; p = 0.81) (Spearman), or to the reduction of systolic BP (r = ­0.07; p = 0.44) and diastolic BP (r = ­0.121; p = 0.21). The T group was treated with more antihypertensive drugs than C (2.2 [2.3] vs. 2.5 [1.2]; p = 0.02). Patients treated with ECA inhibitors or angiotensin II antagonist showed a tendency to decreasing the CRP levels more (p = 0.08). Conclusion: In hypertensive populations, statins induce a reduction of CRP levels. The reduction is not related to the lowering of lipids levels or BP values. The effect of statins on the reduction of CRP in hypertensive patients is not related to the lowering of lipids or BP

Uso clínico de las estatinas y objetivos terapéuticos en relación con el riesgo cardiovascular / Clinical use of statins and cholesterol goals in patients with several cardiovascular risk factors

FUNDAMENTO Y OBJETIVO: El National Cholesterol Education program (NCEP) ha publicado las últimas guías de tratamiento hipolipemiante, que amplían el número de tratamientos farmacológicos respecto a anteriores guías. El objetivo de nuestro estudio es establecer el grado de cumplimiento de los objetivos terapéuticos establecidos por las guías terapéuticas recientemente publicadas. PACIENTES Y MÉTODO: Estudio descriptivo transversal de pacientes que acudieron a una unidad de hipertensión y riesgo cardiovascular. Se calculó el colesterol unido a lipoproteínas de baja densidad (cLDL) de cada uno y se definieron los valores considerados objetivos terapéuticos acordes con su riesgo coronario, siguiendo las indicaciones del NCEP-ATP III. RESULTADOS: Se estudió a 1.811 pacientes (el 46 por ciento varones y el 54 por ciento mujeres), pertenecientes a tres categorías de riesgo definidas por el ATP III. El 35 por ciento de los pacientes pertenecía al grupo de mayor riesgo (grupo 1: riesgo coronario a los 10 años superior al 20 por ciento). El 19 por ciento tenía un riesgo del 10-20 por ciento (grupo 2) y en el 46 por ciento el riesgo era inferior a 10 por ciento (grupo 3). El 58 por ciento de los pacientes cumplía los objetivos terapéuticos de cLDL: un 26 por ciento en el grupo 1, un 51 por ciento en el grupo 2 y el 86 por ciento del grupo 3 (p = 0,001). En el análisis de los factores que intervienen por conseguir el objetivo terapéutico, el tratamiento con estatinas obtuvo un resultado estadísticamente significativo sólo en el grupo 1 de mayor riesgo coronario (odds ratio = 1,7; intervalo de confianza del 95 por ciento, 1,2-2,4; p = 0,007), pero no en los grupos de riesgo intermedio o bajo. El 41 por ciento de los pacientes del grupo 1 tenía valores de cLDL que requerían intervención farmacológica (cLDL superior a 130 mg/dl) y no tomaba tratamiento. CONCLUSIONES: En nuestro estudio, aunque el 58 por ciento de los pacientes alcanza los objetivos terapéuticos previstos, sólo uno de cada 4 pacientes con alto riesgo coronario tiene valores de cLDL inferiores a 100 mg/dl. Estos datos indican que es necesario implementar el uso correcto de estatinas a las dosis eficaces en prevención secundaria (AU)