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1.
Neurologia (Engl Ed) ; 33(2): 85-91, 2018 Mar.
Artículo en Inglés, Español | MEDLINE | ID: mdl-27449154

RESUMEN

INTRODUCTION: Glioblastoma is the most common primary brain tumour. Despite advances in treatment, its prognosis remains dismal, with a mean survival time of about 14 months. Many articles have addressed direct costs, those associated with the diagnosis and treatment of the disease. Indirect costs, those associated with loss of productivity due to the disease, have seldom been described. MATERIAL AND METHOD: We conducted a retrospective study in patients diagnosed with glioblastoma at Hospital Universitario Donostia between January 1, 2010 and December 31, 2013. We collected demographics, data regarding the treatment received, and survival times. We calculated the indirect costs with the human capital approach, adjusting the mean salaries of comparable individuals by sex and age and obtaining mortality data for the general population from the Spanish National Statistics Institute. Past salaries were updated to 2015 euros according to the annual inflation rate and we applied a discount of 3.5% compounded yearly to future salaries. RESULTS: We reviewed the records of 99 patients: 46 women (mean age 63.53) and 53 men (mean age 59.94); 29 patients underwent a biopsy and the remaining 70 underwent excisional surgery. Mean survival was 18.092 months for the whole series. The total indirect cost for the series was €11 080 762 (2015). Mean indirect cost per patient was €111 926 (2015). DISCUSSION: Although glioblastoma is a relatively uncommon type of tumour, accounting for only 4% of all cancers, its poor prognosis and potential sequelae generate disproportionately large morbidity and mortality rates which translate to high indirect costs. Clinicians should be aware of the societal impact of glioblastoma and indirect costs should be taken into account when cost effectiveness studies are performed to better illustrate the overall consequences of this disease.


Asunto(s)
Neoplasias Encefálicas , Costo de Enfermedad , Glioblastoma/cirugía , Hospitales , Neoplasias Encefálicas/economía , Análisis Costo-Beneficio , Femenino , Glioblastoma/mortalidad , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Tasa de Supervivencia
2.
Tech Coloproctol ; 18(10): 863-72, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-24845110

RESUMEN

BACKGROUND: There are different open healing and primary closure approaches for chronic pilonidal sinus (CPD) that differ in principles and extension. AIMS: To compare the results of different closure surgical techniques, we performed a meta-analysis of randomized controlled trials (RCT) comparing: (1) open wide excision versus open limited excision (sinusectomy) or unroofing (sinotomy); (2) midline closure (conventional and tension-free) versus off-midline; (3) advancing versus rotation flaps; and (4) sinusectomy/sinotomy versus primary closure. METHODS: Data extraction and risk of bias assessment were conducted independently by the authors using the Cochrane Collaboration's tool. Data were pooled using fixed and random-effects models. Primary outcomes were rate of healing, recurrence, wound infection and dehiscence. Twenty-five trials (2,949 patients) were included. RESULTS: Four trials compared limited versus radical open healing. Although recurrence rate did not differ, all other outcomes favored the limited approach. Ten studies compared midline versus off-midline primary closure; wound infection and dehiscence were significantly higher after midline closure. Six RCT compared Karydakis/Bascom versus Limberg. No difference was found in recurrence or wound complications rate. Six RCT compared sinusectomy/sinotomy versus primary closure. Recurrence rate was significantly lower after sinusectomy/sinotomy; no significant differences were found in other outcomes. CONCLUSION: Our meta-analysis suggest that some of the questions of which is the best surgical technique for CPD have now been answered: open radical excision and primary midline closure should be abandoned. Sinusotomy/sinectomy or en bloc resection with off midline primary closure are the preferred approaches.


Asunto(s)
Seno Pilonidal/cirugía , Técnicas de Cierre de Heridas , Enfermedad Crónica , Humanos , Masculino , Ensayos Clínicos Controlados Aleatorios como Asunto , Región Sacrococcígea , Colgajos Quirúrgicos , Cicatrización de Heridas/fisiología
3.
Radiologia ; 54(2): 149-54, 2012.
Artículo en Español | MEDLINE | ID: mdl-22079139

RESUMEN

OBJECTIVE: To calibrate 1.5 tesla magnetic resonance scanners for the quantification of the concentration of iron in the liver. MATERIAL AND METHODS: We analyzed twenty-eight 1.5 tesla magnetic resonance scanners using a phantom with four tubes containing different concentrations of iron (III) chloride and one tube without iron. The phantom represented two typical patients: one with moderate iron overload and one with high iron overload. We measured the signal intensity ratio between each iron-containing tube and the tube without iron; then we calculated the theoretical levels of iron concentration in each scanner according to the model for the two levels of overload. We compared the results of each scanner with those of the reference scanner in which the model and the phantom had been designed, and we calculated the percentage of difference between the two scanners. RESULTS: The mean difference in the ratios compared to the reference center was 11% (0.3-39). The mean concentration of iron was 71 µmol Fe/g for moderate overload and 193 µmol Fe/g for high overload. The mean difference was 6% (1.2- 7%) and 3.4% (0-16%). respectively. In two scanners, we applied a correction factor so that the difference was below 25% in all cases. CONCLUSION: We calibrated twenty-eight 1.5 tesla scanners for the concentration of iron in the liver and achieved variability less than 25%.


Asunto(s)
Hierro/análisis , Hígado/química , Imagen por Resonancia Magnética/normas , Humanos , Imagen por Resonancia Magnética/instrumentación , Fantasmas de Imagen , Estándares de Referencia
4.
Eur J Surg Oncol ; 37(9): 786-90, 2011 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-21723689

RESUMEN

AIMS: To analyse patient survival after the resection of lung metastases from colorectal carcinoma and specifically to verify whether presence of liver metastasis prior to lung metastasectomy affects survival. METHODS: All patients who, between 1998 and 2008, underwent lung metastasectomy due to colorectal cancer were included in the study. Kaplan-Meier survival analysis was performed with the log-rank test and Cox regression multivariate analysis. RESULTS: During this period, 101 metastasectomies were performed on 84 patients. The median age of patients was 65.4 years, and 60% of patients were male. The 30-day mortality rate was 2%, and incidence of complications was 7%. The overall survival was 72 months, with 3-and 5-year survival rates of 70% and 54%, respectively. A total of 17 patients (20%) had previously undergone resection of liver metastasis. No significant differences were found in the distribution of what were supposed to be the main variables between patients with and without previous hepatic metastases. Multivariate analysis identified the following statistically significant factors affecting survival: previous liver metastasectomy (p = 0.03), tumour-infiltrated pulmonary lymph nodes (p = 0.04), disease-free interval ≥ 48 months (p = 0.03), and presence of more than one lung metastasis (p < 0.01). In patients with previous liver metastasis, the shorter the time between primary colorectal surgery and the hepatectomy, the lower the survival rate after pulmonary metastasectomy (p = 0.048). CONCLUSIONS: A previous history of liver metastasis shortens survival after lung metastasectomy. The time between hepatic resection and lung metastasectomy does not affect survival; however, patients with synchronous liver metastasis and colorectal neoplasia have poorer survival rates than those with metachronous disease.


Asunto(s)
Adenocarcinoma/secundario , Adenocarcinoma/cirugía , Neoplasias Colorrectales/patología , Neoplasias Hepáticas/secundario , Neoplasias Hepáticas/cirugía , Neoplasias Pulmonares/secundario , Neoplasias Pulmonares/cirugía , Neumonectomía , Adulto , Anciano , Anciano de 80 o más Años , Supervivencia sin Enfermedad , Femenino , Humanos , Neoplasias Pulmonares/mortalidad , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia , Complicaciones Posoperatorias , Pronóstico , Análisis de Supervivencia , Tasa de Supervivencia
5.
Rev Esp Med Nucl ; 30(4): 241-3, 2011.
Artículo en Español | MEDLINE | ID: mdl-21334106

RESUMEN

Treatment with radioiodine (RDI) has been shown to be an effective option in patients with differentiated thyroid cancer with recurrent or metastatic disease. However, in spite of having elevated levels of thyroglobulin in blood, in some of these patients, the whole body scan does not detect radioiodine uptake due to loss of differentiation of the neoplastic cells, thus leading to loss of efficacy of the treatment. That is why drugs with potential differentiating properties, like rosiglitazone or retinoids, are being studied. The aim of these drugs is to improve RDI uptake by the tumor cells. In this work, we have described the case of a patient in whom uptake of RDI by the pulmonary metastases, with subsequent decrease of their size, was achieved after treatment with rosiglitazone (8 mg/day for 2 months) as redifferentiation therapy.


Asunto(s)
Radioisótopos de Yodo/metabolismo , Neoplasias Pulmonares/metabolismo , Neoplasias Pulmonares/secundario , Tiazolidinedionas/uso terapéutico , Neoplasias de la Tiroides/patología , Anciano , Diferenciación Celular/efectos de los fármacos , Femenino , Humanos , Neoplasias Pulmonares/radioterapia , Rosiglitazona
6.
Pediatr Pulmonol ; 45(5): 434-9, 2010 May.
Artículo en Inglés | MEDLINE | ID: mdl-20425850

RESUMEN

BACKGROUND: The aim of this study was to investigate the association among a validated symptom-based questionnaire for asthma control in children (CAN), forced expiratory volume in 1 sec (FEV(1)), and fractional exhaled nitric oxide (FE(NO)). METHODS: Observational cross-sectional study was performed in a consecutive sample of asthmatic children aged between 7 and 14 years old from December 2007 to February 2008. FE(NO) was measured with a portable electrochemical analyzer and forced spirometry was performed according to American Thoracic Society/European Respiratory Society. The CAN questionnaire was completed by the parents (aged <9 years old) or by the children (> or = 9 years old). The strength of the association among FEV(1), FE(NO), and CAN questionnaire was studied using Spearman's rho, and the degree of agreement for asthma control among FEV(1), FE(NO), and CAN questionnaire, with classification of these variables according to values of normality, was studied using Pearson's chi(2) test and Cohen's kappa (KC). RESULTS: We studied 268 children, mean age 9.7 +/- 2.1 years. Significant correlations were found between FE(NO) and CAN (r = 0.2), between FEV(1) and CAN (r = -0.3), and between FE(NO) and FEV(1) (r = -0.12). On classifying the variables according to values of normality, no agreement was found to establish the degree of asthma control between FE(NO) and CAN (KC = 0.18, chi(2) Pearson = 9.63); between FEV(1) and CAN (KC = 0.29, chi(2) = 38.5); or between FE(NO) and FEV(1) (KC = 0.07, chi(2) = 4.9). CONCLUSIONS: The association among the three measurement instruments used to assess asthma control (FEV(1), FE(NO), and CAN) was weak. These are instruments that quantify variables that influence asthma in different ways, in this sense, none can be used instead of another in asthma management although they are complementary.


Asunto(s)
Asma/tratamiento farmacológico , Asma/fisiopatología , Espiración , Pulmón/fisiología , Óxido Nítrico/análisis , Encuestas y Cuestionarios , Adolescente , Pruebas Respiratorias/métodos , Niño , Estudios Transversales , Femenino , Volumen Espiratorio Forzado , Humanos , Masculino , Estudios Prospectivos , Pruebas de Función Respiratoria , Espirometría/métodos
7.
Psychol Med ; 40(3): 487-95, 2010 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-19627641

RESUMEN

BACKGROUND: Although central nervous system (CNS) involvement in adult myotonic dystrophy type 1 (DM1) was described long ago, the large number of variables affecting the cognitive and personality profile have made it difficult to determine the effect of DM1 on the brain. The aim of this study was to define the cognitive and personality patterns in adult DM1 patients, and to analyse the relationship between these clinical patterns and their association with the underlying molecular defect. METHOD: We examined 121 adult DM1 patients with confirmed molecular CTG repeat expansion and 54 control subjects using comprehensive neuropsychological tests and personality assessments with the Millon Clinical Multiaxial Inventory (MCMI)-II. We used a multiple linear regression model to assess the effect of each variable on cognition and personality adjusted to the remainders. RESULTS: Patients performed significantly worse than controls in tests measuring executive function (principally cognitive inflexibility) and visuoconstructive ability. In the personality profile, some paranoid and aggressive traits were predominant. Furthermore, there was a significant negative correlation between the CTG expansion size and many of the neuropsychological and personality measures. The molecular defect also correlated with patients' daytime somnolence. CONCLUSIONS: Besides muscular symptomatology, there is significant CTG-dependent involvement of the CNS in adult DM1 patients. Our data indicate that the cognitive impairment predominantly affects the fronto-parietal lobe.


Asunto(s)
Trastornos del Conocimiento/epidemiología , Trastornos del Conocimiento/psicología , Distrofia Miotónica/epidemiología , Distrofia Miotónica/psicología , Personalidad , Expansión de Repetición de Trinucleótido/genética , Adolescente , Adulto , Anciano , Análisis de Varianza , Southern Blotting/métodos , Trastornos del Conocimiento/diagnóstico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Distrofia Miotónica/genética , Proteína Quinasa de Distrofia Miotónica , Pruebas Neuropsicológicas/estadística & datos numéricos , Inventario de Personalidad/estadística & datos numéricos , Reacción en Cadena de la Polimerasa/métodos , Proteínas Serina-Treonina Quinasas/genética , Escalas de Valoración Psiquiátrica/estadística & datos numéricos , Secuencias Repetitivas de Ácidos Nucleicos , España/epidemiología , Adulto Joven
8.
Arch Dis Child ; 94(7): 501-5, 2009 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-19158133

RESUMEN

OBJECTIVE: To evaluate potential markers of serious bacterial infection (SBI) in infants under 3 months of age presenting with fever of unknown origin. MATERIAL AND METHODS: We retrospectively studied all infants under 3 months of age seen in the emergency department between January 2004 and December 2006 for a febrile syndrome with no identifiable focus. Clinical data, procalcitonin (PCT), C reactive protein (CRP) and leucocyte count were evaluated for their ability to discriminate between SBI and non-SBI; receiver operating characteristic (ROC) curves were constructed for the laboratory markers and analysis was performed by multivariate logistic regression. RESULTS: The sample comprised 347 patients (23.63% with SBI). Mean PCT, CRP, leucocyte and neutrophil count were significantly higher in the group with SBI unlike the other criteria studied. The area under the ROC curve (AUC) for PCT was 0.77 (95% CI 0.72 to 0.81) and 0.79 for CRP (95% CI 0.75 to 0.84); both these variables were stronger predictors than leucocyte count (0.67, 95% CI 0.63 to 0.73). In the 15 infants with more invasive bacterial infections (sepsis, bacteraemia, bacterial meningitis), the diagnostic value of PCT (AUC 0.84, 95% CI 0.79 to 0.88) was higher than CRP (AUC 0.68, 95% CI 0.63 to 0.73). In infants who had been febrile for under 12 h, the differences between PCT, CRP and leucocyte count were statistically significant in both SBI and non-SBI groups, with increasing predictive value of PCT and decreasing value of CRP. CONCLUSIONS: PCT, CRP, and leucocyte count have intrinsic predictive value for SBI in febrile infants under 3 months of age. The diagnostic value of PCT is greater than CRP for more invasive bacterial infections and for fever of short duration.


Asunto(s)
Infecciones Bacterianas/complicaciones , Proteína C-Reactiva/análisis , Calcitonina/sangre , Fiebre de Origen Desconocido/etiología , Precursores de Proteínas/sangre , Péptido Relacionado con Gen de Calcitonina , Diagnóstico Diferencial , Servicio de Urgencia en Hospital , Femenino , Humanos , Lactante , Recién Nacido , Recuento de Leucocitos , Modelos Logísticos , Masculino , Valor Predictivo de las Pruebas , Curva ROC , Estudios Retrospectivos , España
9.
An Pediatr (Barc) ; 70(1): 3-11, 2009 Jan.
Artículo en Español | MEDLINE | ID: mdl-19174113

RESUMEN

INTRODUCTION: Reference values for spirometry in healthy preschool children have not yet been obtained in accordance with American Thoracic Society (ATS) and the European Respiratory Society (ERS) guidelines. The objective was to establish reference values for spirometry in healthy preschoolers under the ATS/ERS 2007 statement. MATERIAL AND METHOD: Children of at least 2 and under 7 years of age were tested in 9 pediatric pulmonary function laboratories. The technicians were trained to apply a standardized protocol to perform spirometry. RESULTS: Valid spirometry results were obtained in 455 (81.54%) out of 558 children: 242 boys (53.2%) and 213 girls (46.8%). Ages were as follows: 31 at least 2 and under 3 years old; 96, at least 3 and under 4; 108, at least 4 and under 5; 122, at least 5 and under 6 years, and 98, at least 6 and under 7 years. Formulas were used to calculate the reference values for all the spirometry variables in preschoolers. CONCLUSIONS: Spirometry is feasible in the majority of preschool children under the new guidelines. The availability of the reference values presented is an important step, both for the care of preschoolers and for further research on pulmonary function.


Asunto(s)
Espirometría , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Masculino , Valores de Referencia
10.
Lab Anim ; 42(1): 19-25, 2008 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-18348763

RESUMEN

Rat serum or plasma creatine kinase (CK) activity is widely used to evaluate myopathic processes, to test the myotoxicity of different drugs, or to analyse the benefits of emerging gene therapies in some neuromuscular disorders. However, great variability is found in this determination. The aim of this study has been to control some factors of variation in order to reduce variability and increase the reproducibility of analytical data. 8-10-week-old Wistar-Han rats were used. The study consisted of four sequential phases. Phase I aimed to analyse the effect of ether and isoflurane as anaesthetic drugs. The objective of Phase II was to evaluate bleeding rats via retro-orbital sinus vs. tail vein. Phases III and IV were designed as two separate, repeated measure experiments on two factors: habituation to laboratory handling procedures in Phase III and gender in Phase IV. The repeated factor was the storage temperature of blood sample prior to centrifugation. Ether did not significantly increased the CK value. Using isoflurane, getting rats accustomed to laboratory handling procedures and whole blood refrigeration prior to centrifugation and serum separation resulted in statistically significant reduction in CK value and variability. Male rats showed significantly higher values than female rats. In the light of our findings, CK value and variability in rats may be minimized by choosing tail vein as site of bleeding, getting rats accustomed to laboratory handling procedures and maintaining whole blood refrigerated until centrifugation and serum separation.


Asunto(s)
Creatina Quinasa/metabolismo , Enfermedades Neuromusculares/sangre , Animales , Recolección de Muestras de Sangre/efectos adversos , Creatina Quinasa/sangre , Femenino , Masculino , Enfermedades Neuromusculares/metabolismo , Ratas , Ratas Endogámicas , Refrigeración , Caracteres Sexuales , Manejo de Especímenes/efectos adversos , Temperatura
11.
Neurogenetics ; 8(3): 201-5, 2007 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-17351762

RESUMEN

A number of association studies have explored the relationship between the CCR5-Delta32 allele and the risk of developing multiple sclerosis (MS), with varying results. In light of the results of several studies that have analyzed the role of the allele in MS, it has been proposed that the allele is involved in the etiopathogeny of the disease. Our study revealed a statistically significant difference between the study group and the control group for the carriers of at least one deleted allele (P = 0.027). The allele was more frequent in the control group, which suggests a possible protective effect of this deletion against MS. When ethnic origin was taken into account in the same analysis, we saw that the bulk of the difference was attributable to the Basque group, although the trend was also visible in the control group. Consideration of ethnic origin is therefore essential for the analysis of our sample. CCR5-Delta32 allele distribution was higher in the Basque control population than in the Basque MS population, which suggests that it confers a protective effect against MS. Relevant values were a P value of 0.008 and an odds ratio of 0.168 (95% confidence interval, 0.038 to 0.737).


Asunto(s)
Esclerosis Múltiple Crónica Progresiva/genética , Esclerosis Múltiple Recurrente-Remitente/genética , Esclerosis Múltiple/genética , Polimorfismo de Nucleótido Simple , Receptores CCR5/genética , Eliminación de Secuencia , Mapeo Cromosómico , Etnicidad , Genotipo , Humanos , Esclerosis Múltiple/epidemiología , Valores de Referencia , España
12.
Neurobiol Aging ; 28(12): 1941-3, 2007 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-17011669

RESUMEN

Alzheimer's disease (AD) is the most common dementing disorder and presents with a progressive and irreversible cognitive decline of gradual onset. To date, several reports have involved iron in AD physiopathology. In this study, we have analysed TFC2 variant and HFE mutations (H63D and C282Y) in 211 AD patients and 167 controls recruited from an area of the Basque Country. Furthermore, we have studied APOE genotype as it is a well-known risk factor for AD. APOE epsilon 4 allele was associated with an increased risk of AD and an earlier age at onset, whereas no association was found between TFC2 or HFE C282Y mutation and disease susceptibility. The frequency of H63D mutation was higher in control population (29.9%) than in AD patients (18%), suggesting a protective role of this allele on AD either due to the presence of the mutation itself or through the effect of other related genes in the ancestral haplotype in which it is included.


Asunto(s)
Enfermedad de Alzheimer/epidemiología , Enfermedad de Alzheimer/genética , Antígenos de Histocompatibilidad Clase I/genética , Trastornos del Metabolismo del Hierro/epidemiología , Trastornos del Metabolismo del Hierro/genética , Proteínas de la Membrana/genética , Medición de Riesgo/métodos , Transferrina/genética , Anciano , Comorbilidad , Femenino , Predisposición Genética a la Enfermedad/epidemiología , Predisposición Genética a la Enfermedad/genética , Proteína de la Hemocromatosis , Humanos , Masculino , Prevalencia , Factores de Riesgo , España/epidemiología
13.
Mult Scler ; 12(4): 511-4, 2006 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-16900767

RESUMEN

The allele C in the CD24 gene has been related to multiple sclerosis (MS). In this work we check this single nucleotide polymorphism (SNP) in a population of 135 patients and 285 controls. Our results confirm the association between the V/V genotype at aa 57 of this gene and MS and highlight the importance of taking into account the origin of the subjects to avoid a population bias.


Asunto(s)
Antígeno CD24/genética , Esclerosis Múltiple/epidemiología , Esclerosis Múltiple/genética , Polimorfismo de Nucleótido Simple , Adulto , Femenino , Predisposición Genética a la Enfermedad/epidemiología , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , España/epidemiología , Población Blanca/genética
14.
Neurosci Lett ; 406(3): 235-9, 2006 Oct 09.
Artículo en Inglés | MEDLINE | ID: mdl-16904828

RESUMEN

Parkinson's disease (PD) is the second most common age-related neurodegenerative disease after Alzheimer's disease (AD). Common risk factors for both diseases have been explored to study potential etiologic interactions between these two neurodegenerative disorders. The APOE epsilon4 allele, previously associated with AD, has also been associated with risk of PD and with the presence of some clinical features in PD patients. However, the role of APOE epsilon4 allele in risk of PD remains unclear. We studied the distribution of APOE alleles in 276 unrelated familial and sporadic PD patients and in 212 controls. Patients and controls were classified by ethnicity. No genetic heterogeneity between Basques and people from other regions of Spain was found. No significant differences in APOE allele distribution between PD patients and controls were found; however, lower epsilon4 allele frequency was observed when the sporadic PD group was analyzed separately. By contrast, an increase in epsilon4 allele frequency was found in familial PD patients with cognitive decline. We conclude that the APOE epsilon4 allele may be associated with the risk of developing PD in isolated cases and that it is linked to the presence of cognitive decline in familial PD in our sample.


Asunto(s)
Apolipoproteínas E/genética , Salud de la Familia , Enfermedad de Parkinson/genética , Edad de Inicio , Anciano , Anciano de 80 o más Años , Alelos , Apolipoproteína E4 , Femenino , Frecuencia de los Genes , Humanos , Masculino , Enfermedad de Parkinson/fisiopatología , Polimorfismo Genético , Riesgo
15.
Eur J Clin Nutr ; 60(5): 605-9, 2006 May.
Artículo en Inglés | MEDLINE | ID: mdl-16391575

RESUMEN

OBJECTIVE: To assess the status of vitamin D and the effects of calcium and vitamin D3 supplementation on the bone metabolism in a group of adults with Down's syndrome (DS). DESIGN: Randomized, parallel, controlled and open clinical trial. SETTING: Institution for mentally handicapped: Fundación Uliazpi, Diputación Foral de Guipúzcoa, San Sebastián, Spain. SUBJECTS: A total of 23 persons with DS, residents at the Uliazpi Foundation were recruited and all completed the study. INTERVENTION: In all, 12 participants were randomly allocated to receive 1 g of calcium and 800 IU of vitamin D once daily for 1 year while 11 were assigned to the control group, receiving no supplementation. RESULTS: We found no differences between groups regarding serum calcium and phosphorous levels. The remaining parameters showed differences between the two groups consistent with a beneficial effect of the intervention: serum levels of parathyroid hormone, osteocalcin and crosslaps diminished while serum 25 OH vitamin D3 level increased. CONCLUSIONS: The results obtained allow to include people with DS as a risk group with regards to vitamin D deficit, which that can be corrected with vitamin D and calcium supplementation, and giving rise to an improvement of the biochemical markers related to the phospho-calcium metabolism and bone remodelling.


Asunto(s)
Densidad Ósea/efectos de los fármacos , Huesos/efectos de los fármacos , Calcio de la Dieta/farmacología , Síndrome de Down , Vitamina D/farmacología , Adulto , Huesos/metabolismo , Calcifediol/sangre , Calcio/sangre , Calcio/deficiencia , Calcio de la Dieta/administración & dosificación , Suplementos Dietéticos , Síndrome de Down/sangre , Síndrome de Down/metabolismo , Femenino , Humanos , Institucionalización , Masculino , Osteocalcina/sangre , Osteoporosis/prevención & control , Hormona Paratiroidea/sangre , Fósforo/sangre , Vitamina D/administración & dosificación , Vitamina D/sangre , Deficiencia de Vitamina D/prevención & control
16.
Arch Dis Child Fetal Neonatal Ed ; 90(4): F328-f331, 2005 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-15871987

RESUMEN

BACKGROUND: Current recommendations for obtaining blood from neonates advise avoidance of the midline area of the heel and are based on postmortem studies. OBJECTIVE: Because of the potential pain and tissue damage from repeated heel pricking in the same area, to investigate using ultrasonography whether the distance from skin to calcaneus is less at the midline than at the borders. METHODS: One hundred consecutive healthy preterm and 105 consecutive healthy term neonates were studied 48-72 hours after delivery. The skin to perichondrium distance (SPD) was measured on two occasions by ultrasound at the external, midline, and internal areas of the heel. FINDINGS: Mean SPD was 0.2 mm less at the midline than at the other sites. The proportion of measurements <3 mm at any of the three sites was the same. Depth was <3 mm in less than 3% of the term and approximately 20% of the preterm infants. The SPD correlated only with gestational age. Of children <33 weeks gestational age, 38% had an SPD <3 mm compared with 8% of older preterm infants. The proportions of preterm infants of > or = 33 weeks gestation and term infants with an SPD <3 mm were similar (8% v 3%). INTERPRETATION: With the use of automated lancets of 2.2 mm length or less, the whole heel plantar surface is safe for obtaining blood in term and preterm infants of > or = 33 weeks gestation. This means that soft tissue damage and pain from repeated pricking in the same area can be reduced.


Asunto(s)
Recolección de Muestras de Sangre/métodos , Calcáneo/anatomía & histología , Recién Nacido , Piel/anatomía & histología , Antropometría/métodos , Calcáneo/diagnóstico por imagen , Femenino , Edad Gestacional , Talón/anatomía & histología , Talón/diagnóstico por imagen , Humanos , Recien Nacido Prematuro , Masculino , Variaciones Dependientes del Observador , Piel/diagnóstico por imagen , Ultrasonografía
17.
Brain ; 128(Pt 4): 732-42, 2005 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-15689361

RESUMEN

We present here the clinical, molecular and biochemical findings from 238 limb-girdle muscular dystrophy type 2A (LGMD2A) patients, representing approximately 50% (238 out of 484) of the suspected calpainopathy cases referred for the molecular study of the calpain 3 (CAPN3) gene. The mean age at onset of LGMD2A patients was approximately 14 years, and the first symptoms occurred between 6 and 18 years of age in 71% of patients. The mean age at which the patients became wheelchair bound was 32.2 years, with 84% requiring the use of a wheelchair between the age of 21 and 40 years. There was no correlation between the age at onset and the time at which the patient became wheelchair bound, nor between the sex of the patient and the risk of becoming wheelchair bound. Of the cases where the CAPN3 gene was not affected, approximately 20% were diagnosed as LGMD2I muscular dystrophy, while facioscapulohumeral muscular dystrophy (FSHD) was uncommon in this sample. We identified 105 different mutations in the CAPN3 gene of which 50 have not been described previously. These were distributed throughout the coding region of the gene, although some exons remained free of mutations. The most frequent mutation was 2362AG-->TCATCT (exon 22), which was present in 30.7% of the chromosomes analysed (146 chromosomes). Other recurrent mutations described were N50S, 550DeltaA, G222R, IVS6-1G-->A, A483D, IVS17+1G-->T, 2069-2070DeltaAC, R748Q and R748X, each of which was found in >5 chromosomes. The type of mutation in the CAPN3 gene does not appear to be a risk factor for becoming dependent on a wheelchair at a determined age. However, in the cases with two null mutations, there were significantly fewer patients that were able to walk than in the group of patients with at least one missense mutation. Despite the fact that the results of phenotyping and western blot might be biased due to multiple referral centres, producing a diagnosis on the basis of the classical phenotype is neither sufficiently sensitive (86.7%) nor specific (69.3%), although western blot proved to be even less sensitive (52.5%) yet more specific (87.8%). In this case LGMD2I was a relevant cause of false-positive diagnoses. Considering both the clinical phenotype and the biochemical information together, the probability of correctly diagnosing a calpainopathy is very high (90.8%). However, if one of the analyses is lacking, the probability varies from 78.3 to 73.7% depending on the information available. When both tests are negative, the probability that the sample comes from a patient with LGMD2A was 12.2%.


Asunto(s)
Calpaína/genética , Isoenzimas/genética , Proteínas Musculares/genética , Distrofia Muscular de Cinturas/genética , Adolescente , Adulto , Edad de Inicio , Teorema de Bayes , Western Blotting , Niño , Análisis Mutacional de ADN/métodos , Progresión de la Enfermedad , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Distrofia Muscular de Cinturas/diagnóstico , Distrofia Muscular de Cinturas/epidemiología , Mutación Missense , Fenotipo , Estudios Retrospectivos
18.
Mult Scler ; 10(5): 532-5, 2004 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-15471369

RESUMEN

Previous studies have suggested that mitochondrial metabolism and/or mitochondrial DNA (mtDNA) could be, in conjunction with other genetic or environmental factors, a risk factor for the development of multiple sclerosis (MS). One of these studies establishes that mitochondrial haplogroup JT is a risk factor for developing the disease, in particular the visual manifestations [optic neuritis (ON)]. Nevertheless, as distribution of these haplogroups varies between populations, the observed association may be due to a slanted sample with no physiopathological value. This hypothesis was checked with MS patients, originals from Basque country (this population has peculiar genetic characteristics) and from other Spanish regions. We concluded that such an association does not exist. By contrast, a decrease could be seen in the frequency of the JT haplogroup in the ON group and in the MS-Basque group. That trend could be a protective effect, which needs to be verified in further investigations.


Asunto(s)
ADN Mitocondrial/genética , Esclerosis Múltiple/epidemiología , Esclerosis Múltiple/genética , Adulto , Anciano , Femenino , Predisposición Genética a la Enfermedad/epidemiología , Haplotipos , Humanos , Masculino , Persona de Mediana Edad , Neuritis Óptica/epidemiología , Neuritis Óptica/genética , Mutación Puntual , Factores de Riesgo , España/epidemiología
19.
Nefrologia ; 24(2): 131-41, 2004.
Artículo en Español | MEDLINE | ID: mdl-15219088

RESUMEN

OBJECTIVE: The aim of our study is to analyze the clinic characteristics and evolution of the primary reflux in infants. METHODS: We studied retrospectively 203 infants in our hospital, diagnosed of severe primary renal reflux. Renal ecography and cyclic mictional cystography were practiced in all cases. DMSA was carried out in 181 patients. RESULTS: Renal reflux was unilateral in the 23% of the patients, and bilateral in the remaining cases; 72% of the renal reflux were grade IV and 28% grade V. The renal injuries affected to male infants and reflux grade V. The renal injury was focal (27%), global (44%) and atrophic (29%). The 79% of the patients had conservative treatment, while 21% had surgical treatment. 100% infants with surgical treatment and 94.2% infants with conservative treatment were recovered (Test of Kaplan-Meier). The 27% of patients developed one or several urinary infections, but progression of old renal injuries or formation of new ones, were exceptional (3 cases): While the time the study lasted none of the patients developed chronic renal failure nor arterial hypertension. CONCLUSIONS: 1) The fetal severe primary reflux of the patients was characterized by the following features: to be bilateral reflux, to affect mainly to male infants and to be associated in 33% of cases with a severe renal injury of congenital origin (renal displasia) most of them unilateral. 2) The natural evolution of the reflux goes to spontaneous recovery, so treatment must be conservative. 3) Some patients underwent urinary infections, but progression or formation of new renal injuries were inusual. None of the patients had terminal renal failure nor hypertension and 4) Risk patients would be male infants with bilateral injuries although these are infrequent.


Asunto(s)
Reflujo Vesicoureteral/epidemiología , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Riñón/anomalías , Pruebas de Función Renal , Tablas de Vida , Masculino , Nitrofurantoína/uso terapéutico , Radiografía , Remisión Espontánea , Estudios Retrospectivos , Resultado del Tratamiento , Combinación Trimetoprim y Sulfametoxazol/uso terapéutico , Ultrasonografía , Infecciones Urinarias/epidemiología , Infecciones Urinarias/etiología , Infecciones Urinarias/prevención & control , Reflujo Vesicoureteral/diagnóstico por imagen , Reflujo Vesicoureteral/terapia
20.
An Pediatr (Barc) ; 59(3): 229-33, 2003 Sep.
Artículo en Español | MEDLINE | ID: mdl-12975114

RESUMEN

BACKGROUND: The complications of varicella are one of the arguments in favor of universal vaccination programs in children. OBJECTIVE: To describe the complications of varicella requiring hospital admission in a well-defined population (Gipuzkoa, Spain) and to compare the incidence of hospitalization with that reported in other series. MATERIAL AND METHODS: Observational, retrospective, multicenter study of admissions for varicella. The medical histories codified as varicella (minimum data set, CIE-0, codes 952.0-052.9) from 1 January 1993 to 31 December 2002 were reviewed. Calculation of hospitalization rates was based on emergency department visits and population data. The pediatric population of Gipuzkoa seeking medical attention at one of the four Basque Country Health Service hospitals in the area: Hondarribia, Mendaro, San Sebastian and Zumarraga. The mean coverage in Gipuzkoa is 54,999 children aged less than 15 years/year. All the children aged 0-15 years old admitted for more than 24 h with a discharge diagnosis of varicella complications. The variables studied are: age, gender, personal history, varicella immunization, immune status, fever, chest X-ray, complementary investigations, length of hospital stay, treatment, discharge diagnosis, clinical course, complications and sequelae at discharge. RESULTS: Seventy-one children were hospitalized. None had been vaccinated against the varicella-zoster virus. Eighty percent were aged less than 5 years and three were immunocompromised. Fifty-six percent had bacterial superinfection and invasive forms were found in seven patients. The mean length of admission was 6.5 days +/- 5.1. No deaths or sequelae were reported. CONCLUSIONS: The annual incidence rate of admissions longer than 24 hours due to varicella complications was 12.9 cases per 100,000 children aged less than 15 years, representing 0.31% of all annual admissions in this age group.


Asunto(s)
Infecciones Bacterianas/etiología , Varicela/complicaciones , Varicela/rehabilitación , Enfermedades Hematológicas/etiología , Enfermedades del Sistema Nervioso/etiología , Adolescente , Infecciones Bacterianas/epidemiología , Varicela/epidemiología , Niño , Preescolar , Servicios Médicos de Urgencia/estadística & datos numéricos , Femenino , Enfermedades Hematológicas/epidemiología , Hospitalización/estadística & datos numéricos , Humanos , Lactante , Recién Nacido , Masculino , Enfermedades del Sistema Nervioso/epidemiología , Estudios Retrospectivos , España/epidemiología
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