[Risk of urolithiasis in patients with cystic fibrosis]. / Riesgo de urolitiasis en pacientes con fibrosis quística.

INTRODUCTION: It has been generally admitted that kidneys are not affected in Cystic fibrosis (CF) patients. Anyway, there are several studies demonstrating a higher prevalence of calcium oxalate nephrolithiasis prevalence in CF patients compared to normal population. The aim of our study was to evaluate renal disease regional prevalence in CF patients METHODS: Cross-sectional regional controlled study. Index group = 20 CF subjects 4- 30 years old controlled in a CF outpatient clinic in a tertiary hospital. Control group = 73 healthy subjects randomly selected among the 100 subjects who completed the follow-up visits of the RICARDIN study. Physical examination and renal function analysis were conducted in both groups. CF patients had their functional measurements repeated in a 20 month interval. Renal ultrasonography was performed only in CF patients. RESULTS: Height estimated creatinine clearance in CF patients were not statistically different from controls. Oxaluria (0.77 mg/kg/24 h, p = 0.001) and phosphate excretion (18.98 mg/kg/24 h, p = 0.04) were significantly higher while citrate (7.76 mg/kg/24 h, p = 0.04) and magnesium (1.60 mg/kg/24 h, p = 0.04) excretion were significantly lower in CF patients than normal population reference values. No signs of nephrolithiasis or nephrocalcinosis were found. CONCLUSIONS: CF patients showed a conserved renal function , without ecographic abnormalities. CF patients showed increased urinary elimination of phosphate and oxalate and lower citrate and magnesium elimination, findings that predispose these patients to suffer from urolithiasis in the future.

Risk of urolithiasis in patients with Cystic Fibrosis

Introduction: It has been generally admitted that kidneys are not affected in Cystic fibrosis (CF) patients. Anyway, there are several studies demonstrating a higher prevalence of calcium oxalate nephrolithiasis prevalence in CF patients compared to normal population. The aim of our study was to evaluate renal disease regional prevalence in CF patients Methods: Cross-sectional regional controlled study. Index group = 20 CF subjects4- 30 years old controlled in a CF outpatient clinic in atertiary hospital. Control group = 73 healthy subjects randomly selected among the 100 subjects who completed the follow-up visits of the RICARDIN study. Physical examination and renal function analysis were conducted in both groups. CF patients had their functional measurements repeated in a 20 month interval. Renal ultrasonography was performed only in CF patients. Results: Height estimated creatinine clearance in CF patients were not statistically different from controls. Oxaluria (0.77mg/kg/24 h, p = 0.001) and phosphate excretion (18.98 mg/kg/24 h, p = 0.04) were significantly higher while citrate (7.76mg/kg/24 h, p = 0.04) and magnesium (1.60mg/kg/24 h, p = 0.04) excretion were significantly lower in CF patients than normal population reference values. No signs of nephrolithiasis ornephrocalcinosis were found. Conclusions: CF patients showed a conserved renal function , without ecographic abnormalities. CF patients showed increased urinary elimination of phosphate and oxalate and lower citrate and magnesium elimination, findings that predispose these patients to suffer from urolithiasis in the future (AU)

Introducción: generalmente, se ha aceptado que el riñón no sea un órgano afectado en la Fibrosis Quística (FQ). Diferentes estudios han demostrado que los pacientes con FQ tienen una mayor predisposición a padecer nefrolitiasis por cálculos de oxalato cálcico que la población general. Objetivo: estudiar la prevalencia autonómica de enfermedad renal en pacientes con FQ. Pacientes y métodos: estudio transversal analítico de ámbito autonómico, con grupo control. Grupo índice: 20 pacientes con FQ de 4-30 años de edad. Grupo control: 73 sujetos sanos, seleccionados al azar entre los 100 individuos de 13-21años de edad que completaron el seguimiento longitudinal del estudio RICARDIN. Realización en ambos grupos de estudio de examen físico y pruebas analíticas de función renal, repitiendo en el grupo FQ la recogida de datos 20 meses después. Ecografía renal sólo en el grupo índice. Resultados: el filtrado glomerular estimado por la talla no alcanzó diferencias significativas en el grupo FQ respecto al control. Los pacientes del grupo FQ presentaron valores significativamente más altos de oxaluria (0,77mg/kg/24 h, p = 0,001) y fosfaturia (18,98 mg/kg/24 h, p =0,04), y valores más bajos de citraturia (7,76 mg/kg/24 h,p = 0,04) y magnesuria (1,60 mg/kg/24 h, p = 0,04) que los valores normales de referencia. La ecografía renal no demostró en ningún caso hallazgos sugerentes de nefrocalcinosis ni nefrolitiasis. Conclusiones: los pacientes con FQ presentan una función renal conservada, sin diferencias significativas con los controles. Estos pacientes presentan alteraciones en la excreción urinaria de solutos que pueden favorecer la formación futura de cálculos renales (AU)

Documento de Consenso sobre el posible empleo de Ácido Conjugado Linoleico (CLA), como complemento alimenticio, en la infancia y la adolescencia / Consensus Document of possible use of Conjugated Linoleic Acid (CLA), as dietary supplement in childhood and adolescence

No disponible

No disponible

Computed tomography in children with cystic fibrosis: a new way to reduce radiation dose.

AIMS: To determine whether the monitoring of respiratory disease progression in children with cystic fibrosis (CF) can be made using six pre-selected computed tomography (CT) cuts in lieu of the conventional full study. METHODS: Forty one lung CT scans from 21 paediatric patients with CF were analysed. The Bhalla and Nathanson scores of the total lung CT and the six pre-selected CT cuts were compared. RESULTS: The Bhalla mean score of the total lung CT evaluated by two radiologists was 5.62. It was 5.36 when just the six pre-selected sections were evaluated. The difference between means was not statistically significant. The Nathanson mean score of the total lung CT evaluated by both radiologists was 66.11; it was 66.51 when just the six pre-selected sections were evaluated. The difference between means was not statistically significant. The mean total radiation dose from a single whole lung CT scan was 716.22 mGy.cm. A dose of 250.66 mGy.cm was estimated if only six sections were used, with a reduction in radiation of about 65%. CONCLUSION: It is possible to obtain the same radiological information from six pre-selected CT cuts as it is from a full pulmonary CT scan, thereby markedly reducing radiation exposure for children who will require repeat investigations in the future.

Estenosis hipertrófica de píloro y macrosomía relativa al nacimiento. Estudio estadístico de 88 casos / Hypertrophic plyoric stenosis and macrosomia regarding birth. Statistical study of 88 cases

No disponible

MHC class I chain related gene A (MICA) modulates the development of coeliac disease in patients with the high risk heterodimer DQA1*0501/DQB1*0201.

BACKGROUND AND AIMS: Coeliac disease (CD) is an enteropathic disorder characterised by a strong association with major histocompatibility complex (MHC) heterodimer HLA-DQ2. It has been suggested that other HLA class I genes in combination with DQ may also contribute to CD susceptibility. The aim of this study was to investigate whether other candidate genes modify the risk of developing different clinical forms of CD. PATIENTS AND METHODS: We studied 133 Spanish coeliac patients, divided according to their clinical presentation into typical and atypical groups, and 116 healthy controls. All were typed by polymerase chain reaction-sequence specific primers (PCR-SSP) at HLA-B, DRB1, DQA1, and DQB1 loci and for exon 5 of the MHC class I chain related gene A (MICA). RESULTS: No differences were found in the frequency of the DQA1*0501/DQB1*0201 heterodimer in either group. The risk of typical CD was significantly associated with the DR7/DQ2 haplotype (p(c)=0.02, odds ratio (OR)=3.4, ethiological fraction (EF)=0.4). Extended haplotype (EH) 8.1 (B8/DR3/DQ2) was found to be overrepresented in the atypical form compared with the typical form (p(c)=0.001, OR=4.19, EF=0.56). The trinucleotide repeat polymorphism MICA-A5.1 was found to be increased in the atypical group of patients compared with the typical group (p(c)=0.00006, OR=8.63, EF=0.81). This association was independent of linkage disequilibrium with EH8.1 as this was also found to be increased in EH8.1 negative atypical patients compared with the typical group (p(c)=0.004, OR=6.66, EF=0.56). CONCLUSIONS: Our results showed that the risk of developing typical forms of CD was associated with DR7/DQ2 haplotype, and the presence of B8/DR3/DQ2 was significantly increased in atypical patients. In these, the MICA-A5.1 allele confers an additive effect to the DR3/DQ2 haplotype that may modulate the development of CD.

[Cystic fibrosis in Asturias: an elevated frequency of the delta F508 mutation]. / Fibrosis quística en Asturias: elevada frecuencia de la mutación delta F508.

BACKGROUND: Cystic fibrosis (CF) is the most common autosomic-recessive inherited disorder. More than 300 different mutations in the CF gene (CFTR) have been described, being delta F508 and G542X the most common in the Spanish population. The frequencies of these mutations vary between the different European populations. METHODS: We have studied the delta F508 and G542X mutations in 20 CF-patients from Asturias. These mutations were analysed through the polymerase chain reaction (PCR). RESULTS: The frequency of the delta F508 mutation in Asturias was 77.5%, higher than those found in most of the other Spanish populations. The frequency found in Asturias is close to the frequency described for the Basque Country population. Patients homozygous for the delta F508 mutation showed clinical symptoms similar to those described in studies on other populations. CONCLUSIONS: The high frequency of two mutations in the CFTR gene in Asturias makes possible the direct diagnostic in most families. The delta F508 mutation is associated to severe clinical manifestations, like early pancreatic insufficiency and Pseudomonas infection.

[C-reactive protein and orosomucoid as parameters of developmental monitoring and therapeutic effectiveness in neonatal sepsis]. / Proteína-C-reactiva y orosomucoide como parámetros de control evolutivo y eficacia terapéutica en la sepsis neonatal.

Authors develop a comparative study of two acute phase reactants behaviour, in the follow up on 27 neonates with confirmed sepsis of favourable evolution and in 15 cases with fatal evolution. Results show that sera levels C-reactive-protein follow a parallel course with clinical significance in patients reaching normal concentrations soon after favourable evolution and persisting in high level or even increasing previous ones, in cases of lethal evolution. Orosomucoid did show the same clinical-biological correlation maintaining generally in high levels independent of normalization of symptoms and C-reactive protein. They propose serial determination of C-reactive-protein and an efficient control of treatment in neonatal sepsis.

[Karyotype in GPG bands: description of a elementaly technique for routine (author's transl)]. / Cariotipo en bandas GPG. Descripción de una técnica elemental para rutina.

A new technic for banded chromosomes, with similar results (100%) to those obtained with chromatids modification by trypsin (G bands), is described. The key consists in Pyronin addition (20 mg.%) to distilled water at hypotonic shock, following then a standard karyotype technic assayed with micro-method, reaching banding after Giemsa tinction at 3% in 6.7 phosphate pH. Its interest radicates in chromosome modification in vivo, simplicity, fiability (80% of excellent results) and reproductibility, allowing any cytogenetic laboratory a routine obtention of G bands in only four days.