La metodología cartográfica y el empleo de los sistemas de información geográfica en la distribuc... more La metodología cartográfica y el empleo de los sistemas de información geográfica en la distribución y análisis de la herpetofauna Neftalí SILLERO Santiago Martín-ALFAGEME Laura CELAYA IRIGOYEN Amplexus de Pelobates cultripes L.J. Barbadillo
A bulk liquid membrane system has been used as preconcentration tool for the spectrometric determ... more A bulk liquid membrane system has been used as preconcentration tool for the spectrometric determination of cadmium in seawater. The membrane contained di-(2-ethylhexyl)-phosphoric acid (DEHPA) as mobile carrier dissolved in kerosene. The effects of the composition of both organic and aqueous solutions on the permeation of Cd across the membrane were studied, and optimum conditions were found by the modified simplex method. Maximum preconcentration rates were obtained at a sample pH of 4.7, maintained with a 0.1 mol l −1 acetate buffer solution, a 0.3 mol l −1 HNO 3 receiving solution, and a carrier concentration of 0.17 mol l −1 . Under optimum conditions, a preconcentration yield of 100% was obtained for both synthetic and real seawater. The method was successfully applied to the determination of cadmium in real seawater.
Introducción La elevada prevalencia de baja densidad mineral ósea en mujeres con anorexia nervios... more Introducción La elevada prevalencia de baja densidad mineral ósea en mujeres con anorexia nerviosa es de origen multifactorial. Nuestro estudio analiza los factores implicados en esta pérdida del contenido óseo y se evalúa especialmente la influencia del estado nutricional. Pacientes y métodos Estudio transversal en 33 pacientes diagnosticadas de anorexia nerviosa (DSM IV), con recogida prospectiva de datos basales (antes del inicio del tratamiento y en amenorrea). Resultados La prevalencia de osteopenia (-1 desviación estándar ≥ Zscore > 2,5 desviaciones estándar) fue del 54% y la de osteoporosis (Zscore ≤ 2,5 desviaciones estándar) del 15% en la columna lumbar. La media de la densidad mineral ósea en la columna lumbar fue de 0,839 g/cm 2 (intervalo de confianza [IC] del 95%, 0,798-0,880) y en el fémur, de 0,778 (IC del 95%, 0,737-0,819). La media de las Z-scores de la densidad mineral ósea fue de -1,56 (IC del 95%, -1,98 a -1,14) en las vértebras lumbares y de -1,57 (IC del 95%, -1,97 a -1,17) en el fémur. La evaluación nutricional demuestra una malnutrición grave, con un índice de masa corporal bajo (media = 16,5 kg/m 2 ; IC del 95%, 15,9-17,1) y unos índices antropométricos con percentiles por debajo del 10%. La encuesta dietética revela un déficit de ingesta calórica (1.429 kcal/día, IC del 95%, 1.173-1.685), de calcio (783 mg/día; IC del 95%, 615-951) y una distribución alterada de la proporción de principios inmediatos (hidratos de carbono, 42%; grasas, 32%, y proteínas, 19,6%). En el estudio de regresión multilineal destaca la medida del pliegue subescapular como variable con mayor potencia predictiva de la reducción de la densidad mineral ósea (r 2 = 0,79; p < 0,01), reflejo del bajo porcentaje en el contenido de masa grasa corporal. Otras variables predictivas han sido la albúmina plasmática (p < 0,01), el tiempo de evolución (p < 0,05) y la edad (p < 0,05). Conclusión La reducción del componente graso corporal es un factor determinante de la pérdida de densidad ósea que presentan las pacientes anoréxicas. Mejorar el déficit nutricional, con especial atención al componente graso, es probablemente un objetivo prioritario en la prevención y el tratamiento de la osteopenia de estas pacientes, junto con la reversión farmacológica del hipoestrogenismo.
Familial hypercholesterolemia (FH) is an autosomal dominant disorder mostly caused by mutations i... more Familial hypercholesterolemia (FH) is an autosomal dominant disorder mostly caused by mutations in the LDLR gene. Although the detection of functional mutations in the LDLR gene provides an unequivocal diagnosis of the FH condition, there are many variants whose pathogenicity is still unknown. The aims of this study were to set up a rapid method to determine the effect of LDLR mutations, thereby providing an accurate diagnosis of FH, and to functionally characterize six LDLR mutations detected at high frequency by the LIPOchip R platform (Progenika Biopharma, Spain) in the Spanish population. LDLR expression and activity were analyzed by one-single-step flow cytometry assay and confocal microscopy. Splicing effects were determined by sequencing reverse transcription polymerase chain reaction products. The analysis of three heterozygous variants with a single point mutation within the low-density lipoprotein binding domain allowed us to classify the c.806G>A variant as nonpathogenic, and c.862G>A and c.895G>A variants as causative of FH. The results obtained for three variants affecting donor splice sites of the LDLR mRNA, c.313+2dupT, c.1186+5G>A, and c.1845+1G>C, demonstrated that these mutations are pathogenic. These results expand our knowledge of mutations responsible for FH, providing an accurate diagnosis and leading to early treatment to reduce the risk of premature cardiovascular events.
We investigated the levels of prolactin (PRL) and interleukin-6 (IL-6) in the cerebrospinal fluid... more We investigated the levels of prolactin (PRL) and interleukin-6 (IL-6) in the cerebrospinal fluid (CSF) and serum of systemic lupus erythematosus patients with central nervous system involvement (CNS-SLE), and examined whether PRL and IL-6 have a relationship. Serum and CSF PRL and IL-6 were measured in the following groups of patients and controls: group I: seven patients with CNS-SLE; group II: three SLE patients without CNS involvement (non CNS-SLE); group III: 10 patients with neurocysticercosis; and group IV: six healthy women. The patients were clinically assessed. CSF PRL and IL-6 were elevated in group I (CNS-SLE) in comparison with all other groups (p&lt;0.001). In addition, four of seven patients had higher levels of IL-6 and PRL in CSF than in serum. A positive correlation between PRL and IL-6 in CSF of SLE was observed (r=0.88, p&lt;0.001). The mean serum PRL concentrations were not significantly different in all groups, but high levels of IL-6 were found in the serum of group I in comparison with groups II and IV (p&lt;0.001). The serum levels of group III were not different from those of group I. These results demonstrate the presence of intrathecal synthesis and elevations of CSF PRL and IL-6 in active CNS-SLE involvement and indicate that measurements of CSF PRL and IL-6 may be useful in the evaluation of neuropsychiatric lupus erythematosus.
To determine the effect of the type of mutation in low-density lipoprotein receptor gene and the ... more To determine the effect of the type of mutation in low-density lipoprotein receptor gene and the risk factors associated with the development of premature cardiovascular disease (PCVD) in a large cohort of heterozygous familial hypercholesterolemia (hFH) subjects with genetic diagnosis in Spain. Methods and results: A cross-sectional study was conducted on 811 non-related FH patients (mean age 47.1 ± 14 years, 383 males and 428 females) with a molecular defect in the low-density lipoprotein receptor (LDLR) gene from the Spanish National FH Register. Prevalence of PCVD was 21.9% (30.2% in males and 14.5% in women, P < 0.001). Mean age of onset of cardiovascular event was 42.1 years in males and 50.8 years in females. Of those patients with PCVD, 59.5% of males and 27% of females suffered a second cardiovascular (CV) event. In multivariate analysis male gender, age, tobacco consumption (ever), and total cholesterol/HDL-cholesterol (TC/HDL-C) ratio were significantly associated with PCVD. Two hundred and twenty different mutations were found with a large heterogeneity. Patients carrying null-mutations had significantly higher frequency of PCVD and recurrence of CV events. No relationship with Lp(a) levels and genotype of Apo E were found. Conclusions: This study confirms the importance of identifying some classic risk factors such as smoking and TC/HDL-C ratio, and also the type of mutation in LDLR gene in order to implement early detection and intensive treatment for the prevention of cardiovascular disease in FH patients.
La metodología cartográfica y el empleo de los sistemas de información geográfica en la distribuc... more La metodología cartográfica y el empleo de los sistemas de información geográfica en la distribución y análisis de la herpetofauna Neftalí SILLERO Santiago Martín-ALFAGEME Laura CELAYA IRIGOYEN Amplexus de Pelobates cultripes L.J. Barbadillo
La metodología cartográfica y el empleo de los sistemas de información geográfica en la distribuc... more La metodología cartográfica y el empleo de los sistemas de información geográfica en la distribución y análisis de la herpetofauna Neftalí SILLERO Santiago Martín-ALFAGEME Laura CELAYA IRIGOYEN Amplexus de Pelobates cultripes L.J. Barbadillo
A bulk liquid membrane system has been used as preconcentration tool for the spectrometric determ... more A bulk liquid membrane system has been used as preconcentration tool for the spectrometric determination of cadmium in seawater. The membrane contained di-(2-ethylhexyl)-phosphoric acid (DEHPA) as mobile carrier dissolved in kerosene. The effects of the composition of both organic and aqueous solutions on the permeation of Cd across the membrane were studied, and optimum conditions were found by the modified simplex method. Maximum preconcentration rates were obtained at a sample pH of 4.7, maintained with a 0.1 mol l −1 acetate buffer solution, a 0.3 mol l −1 HNO 3 receiving solution, and a carrier concentration of 0.17 mol l −1 . Under optimum conditions, a preconcentration yield of 100% was obtained for both synthetic and real seawater. The method was successfully applied to the determination of cadmium in real seawater.
Introducción La elevada prevalencia de baja densidad mineral ósea en mujeres con anorexia nervios... more Introducción La elevada prevalencia de baja densidad mineral ósea en mujeres con anorexia nerviosa es de origen multifactorial. Nuestro estudio analiza los factores implicados en esta pérdida del contenido óseo y se evalúa especialmente la influencia del estado nutricional. Pacientes y métodos Estudio transversal en 33 pacientes diagnosticadas de anorexia nerviosa (DSM IV), con recogida prospectiva de datos basales (antes del inicio del tratamiento y en amenorrea). Resultados La prevalencia de osteopenia (-1 desviación estándar ≥ Zscore > 2,5 desviaciones estándar) fue del 54% y la de osteoporosis (Zscore ≤ 2,5 desviaciones estándar) del 15% en la columna lumbar. La media de la densidad mineral ósea en la columna lumbar fue de 0,839 g/cm 2 (intervalo de confianza [IC] del 95%, 0,798-0,880) y en el fémur, de 0,778 (IC del 95%, 0,737-0,819). La media de las Z-scores de la densidad mineral ósea fue de -1,56 (IC del 95%, -1,98 a -1,14) en las vértebras lumbares y de -1,57 (IC del 95%, -1,97 a -1,17) en el fémur. La evaluación nutricional demuestra una malnutrición grave, con un índice de masa corporal bajo (media = 16,5 kg/m 2 ; IC del 95%, 15,9-17,1) y unos índices antropométricos con percentiles por debajo del 10%. La encuesta dietética revela un déficit de ingesta calórica (1.429 kcal/día, IC del 95%, 1.173-1.685), de calcio (783 mg/día; IC del 95%, 615-951) y una distribución alterada de la proporción de principios inmediatos (hidratos de carbono, 42%; grasas, 32%, y proteínas, 19,6%). En el estudio de regresión multilineal destaca la medida del pliegue subescapular como variable con mayor potencia predictiva de la reducción de la densidad mineral ósea (r 2 = 0,79; p < 0,01), reflejo del bajo porcentaje en el contenido de masa grasa corporal. Otras variables predictivas han sido la albúmina plasmática (p < 0,01), el tiempo de evolución (p < 0,05) y la edad (p < 0,05). Conclusión La reducción del componente graso corporal es un factor determinante de la pérdida de densidad ósea que presentan las pacientes anoréxicas. Mejorar el déficit nutricional, con especial atención al componente graso, es probablemente un objetivo prioritario en la prevención y el tratamiento de la osteopenia de estas pacientes, junto con la reversión farmacológica del hipoestrogenismo.
Familial hypercholesterolemia (FH) is an autosomal dominant disorder mostly caused by mutations i... more Familial hypercholesterolemia (FH) is an autosomal dominant disorder mostly caused by mutations in the LDLR gene. Although the detection of functional mutations in the LDLR gene provides an unequivocal diagnosis of the FH condition, there are many variants whose pathogenicity is still unknown. The aims of this study were to set up a rapid method to determine the effect of LDLR mutations, thereby providing an accurate diagnosis of FH, and to functionally characterize six LDLR mutations detected at high frequency by the LIPOchip R platform (Progenika Biopharma, Spain) in the Spanish population. LDLR expression and activity were analyzed by one-single-step flow cytometry assay and confocal microscopy. Splicing effects were determined by sequencing reverse transcription polymerase chain reaction products. The analysis of three heterozygous variants with a single point mutation within the low-density lipoprotein binding domain allowed us to classify the c.806G>A variant as nonpathogenic, and c.862G>A and c.895G>A variants as causative of FH. The results obtained for three variants affecting donor splice sites of the LDLR mRNA, c.313+2dupT, c.1186+5G>A, and c.1845+1G>C, demonstrated that these mutations are pathogenic. These results expand our knowledge of mutations responsible for FH, providing an accurate diagnosis and leading to early treatment to reduce the risk of premature cardiovascular events.
We investigated the levels of prolactin (PRL) and interleukin-6 (IL-6) in the cerebrospinal fluid... more We investigated the levels of prolactin (PRL) and interleukin-6 (IL-6) in the cerebrospinal fluid (CSF) and serum of systemic lupus erythematosus patients with central nervous system involvement (CNS-SLE), and examined whether PRL and IL-6 have a relationship. Serum and CSF PRL and IL-6 were measured in the following groups of patients and controls: group I: seven patients with CNS-SLE; group II: three SLE patients without CNS involvement (non CNS-SLE); group III: 10 patients with neurocysticercosis; and group IV: six healthy women. The patients were clinically assessed. CSF PRL and IL-6 were elevated in group I (CNS-SLE) in comparison with all other groups (p&lt;0.001). In addition, four of seven patients had higher levels of IL-6 and PRL in CSF than in serum. A positive correlation between PRL and IL-6 in CSF of SLE was observed (r=0.88, p&lt;0.001). The mean serum PRL concentrations were not significantly different in all groups, but high levels of IL-6 were found in the serum of group I in comparison with groups II and IV (p&lt;0.001). The serum levels of group III were not different from those of group I. These results demonstrate the presence of intrathecal synthesis and elevations of CSF PRL and IL-6 in active CNS-SLE involvement and indicate that measurements of CSF PRL and IL-6 may be useful in the evaluation of neuropsychiatric lupus erythematosus.
To determine the effect of the type of mutation in low-density lipoprotein receptor gene and the ... more To determine the effect of the type of mutation in low-density lipoprotein receptor gene and the risk factors associated with the development of premature cardiovascular disease (PCVD) in a large cohort of heterozygous familial hypercholesterolemia (hFH) subjects with genetic diagnosis in Spain. Methods and results: A cross-sectional study was conducted on 811 non-related FH patients (mean age 47.1 ± 14 years, 383 males and 428 females) with a molecular defect in the low-density lipoprotein receptor (LDLR) gene from the Spanish National FH Register. Prevalence of PCVD was 21.9% (30.2% in males and 14.5% in women, P < 0.001). Mean age of onset of cardiovascular event was 42.1 years in males and 50.8 years in females. Of those patients with PCVD, 59.5% of males and 27% of females suffered a second cardiovascular (CV) event. In multivariate analysis male gender, age, tobacco consumption (ever), and total cholesterol/HDL-cholesterol (TC/HDL-C) ratio were significantly associated with PCVD. Two hundred and twenty different mutations were found with a large heterogeneity. Patients carrying null-mutations had significantly higher frequency of PCVD and recurrence of CV events. No relationship with Lp(a) levels and genotype of Apo E were found. Conclusions: This study confirms the importance of identifying some classic risk factors such as smoking and TC/HDL-C ratio, and also the type of mutation in LDLR gene in order to implement early detection and intensive treatment for the prevention of cardiovascular disease in FH patients.
La metodología cartográfica y el empleo de los sistemas de información geográfica en la distribuc... more La metodología cartográfica y el empleo de los sistemas de información geográfica en la distribución y análisis de la herpetofauna Neftalí SILLERO Santiago Martín-ALFAGEME Laura CELAYA IRIGOYEN Amplexus de Pelobates cultripes L.J. Barbadillo
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