Anales Espanoles De Pediatria最新文献

To determine whether Gilbert's syndrome increases the risk of gallstone formation in children with chronic hemolytic disease, we studied 44 children with this diagnosis. Gallstones were detected by abdominal ultrasonography. This took place annually in scheduled examinations or in the context of acute abdominal pain. In all patients, the mean values of hemoglobin, reticulocyte and serum bilirubin in the chronic phase were recorded. In addition, TA insertion in the A(TA)nTATAA motif within the promoter region of the enzyme uridine-diphosphate-glucuronyl transferase (UGT1A1) was screened, since this is typically associated with GS.We found 10 (22.7 %) homozygotes for the mutated allele TA*7/TA*7, 12 (27.3 %) TA*6/TA*6 heterozygotes and 22 (50 %) homozygotes for the wild-type allele TA*6/TA*6. No statistically significant differences were found in the values of hemoglobin (Kruskal-Wallis test 2.496; p > 0.05) or in reticulocyte count (Kruskal-Wallis test 1.696; p > 0,05) between the three groups of patients, suggesting a similar degree of hemolysis. Patients with the UGT1A1 TA*7/TA*7 genotype showed higher mean serum bilirubin levels than did patients who were homozygous for the wild-type allele (Mann-Whitney test 35.5; p < 0.05). None of the patients with the TA*6/TA*6 genotype developed gallstones, whereas this complication was found in 2 of 12 (16.6 %) heterozygotes and 6 of 10 (60 %) homozygotes for the allele with TA insertion. In this latter group, 4 patients presented acute pancreatitis as a consequence of gallstone formation.The association between increased bilirubin load due to chronic hemolytic disease and diminished hepatic conjugation leads to raised serum bilirubin levels and consequently to an increased risk of gallstone formation. Therefore, we recommend screening for Gilbert's syndrome in children in the initial phases of chronic hemolytic diseases.

Background Breastfeeding duration in Spanish neonates does not fulfill the recommendations of the World Health Organization.ObjectiveTo report the results of a policy of breastfeeding support in a primary care center.Material and methodsWe performed a before-and-after intervention study of all mothers of children born in Ulldecona who decided to breast feed in 1992, 1993, 1996 and 1997 (control group: 125 infants), and from August 1999-August 2001 (72 infants). Study variable: in May 1999 a breastfeeding support policy was initiated in the primary care center.ResultsBreastfeeding duration increased (in the control group the mean duration of exclusive breastfeeding was 18.8 weeks; from 1999 to 2001 it was 28 weeks). Negative factors for breastfeeding were the birth of twins, introduction of a supplement, and education (there was an inverse relationship between greater education and breastfeeding duration). Duration of breastfeeding was longer in Moroccan mothers. Sex, gestational age, weight, type of delivery, separation between mother and neonate, maternal age, previous children, and work outside the home did not influence breastfeeding duration. Simple lineal regression revealed that the intervention was effective (P 0.046). Early hypogalactia and breast problems decreased, and voluntary weaning increased (P < 0.001).ConclusionThe primary care team plays key role in the maintenance of breastfeeding and in the well-being of the mother and neonate.

Introduction Termination of artificial life-support in critically-ill patients without chance of recovery or with severe damage is frequent in the intensive care unit (UCI). Patients and methodsWe studied the present situation concerning the withdrawal of life support in Spain using data collected over 10 years in referral hospitals with pediatric ICUs. Forty-nine patients were included, of which 43 had chronic diseases.ResultsThe most frequent causes of admission to the pediatric ICU in this type of patiens was respiratory failure followed by cardiovascular surgery. The family seemed to be a key element when taking a decision although in a few cases the medical team acted paternalistically. The most common ways of limiting life-support were withholding or withdrawing some treatments (mainly mechanical ventilation and vasoactive drugs) and implementing do-not-resuscitate orders. Sedation and suitable pain management were widely used in terminal care. After the decision to limit life-support was made, six patients were discharged from the pediatric ICU. ConclusionsAlthough each case should be treated individually, because of the wide variation found in the limitation of life-support, we suggest the need for common guidelines that could help the decision-making process.

Isolated non-compaction of the ventricular myocardium is a rare disorder of endomyocardial morphogenesis characterized by numerous, excessively prominent ventricular trabeculations, probably due to arrest of normal endomyocardial embryogenesis. We report two cases of isolated non-compaction of the ventricular myocardium.The first patient had a brother who died in the first year of life after heart transplantation due to refractory heart failure caused by restrictive biventricular cardiomyopathy associated with a right ventricular diverticulum. This could have been a case of isolated non-compaction of the ventricular myocardium that was not diagnosed. The patient, who is 8 years old, is asymptomatic and echocardiogram (ECG) showed multiple prominent ventricular trabeculations in the apical portion of the left ventricle, slightly depressed systolic and diastolic function and restrictive ventricular filling pattern.The second patient is a 7-year-old boy who presents recurrent syncopes. ECG showed multiple prominent ventricular trabeculations, restrictive ventricular filling pattern and normal systolic function. The Holter ECG recording showed multiple premature ventricular complexes and nonsustained ventricular tachycardia. An implantable subcutaneous Holter recorder was inserted, which was associated with an episode of aborted sudden death and polymorphic ventricular tachycardia followed by asystole. The patient was then treated with an implantable defibrillator.

Objective To evaluate the clinical course in patients with Duchenne muscular dystrophy admitted to our department who received corticosteroid treatment and to compare their course with that in patients who did not receive corticosteroid treatment.Patients and methodsWe performed a retrospective study of 20 pediatric patients with a diagnosis of Duchenne muscular dystrophy who were offered corticosteroid treatment: 10 patients received deflazacort and 10 refused the treatment. The MRC muscular strength scale and Vignos' functional scale were used to evaluate clinical course, which was compared in both groups.ResultsUntreated patients showed progressive worsening. Corticosteroid-treated patients showed disease stabilization both in muscular strength and functional performance. In addition, muscular balance improved in 70 % of these patients, but only 2 % showed functional improvement. The positive effect of steroid treatment had a mean duration of 12 months. Loss of independent gait occurred at similar ages in both groups (10.3 vs. 10.5 years). The results of Achilles' tendon surgery were poor.ConclusionsCorticosteroids produced clinical stabilization and improved muscular strength. Functional improvement was not significant, including loss of gait, probably because this loss also depends on an increase in joint contracture. Good coordination among multiprofessional teams is essential to achieve optimal results.

Background It has been known for many years that the risk of sudden infant death syndrome (SIDS) is reduced by the supine sleeping position. Campaigns are required to increase awareness of this finding among all those involved in childcare (parents, relatives, kindergarten staff, health professionals etc.).ObjectiveTo determine knowledge of the best sleeping position among health professionals (physicians and nurses) and the parents of healthy neonates.Material and methodThe study was performed in a tertiary maternity hospital. A voluntary, anonymous questionnaire containing an item on the best sleeping position for neonates was distributed. The influence of parental age, occupation, education, and previous children was analyzed.ResultsThe side position was the most frequent answer among parents both in the first questionnaire (50.9 %) and in the second (46.8 %). Health professionals preferred the supine position (63.3 %). Parents who gave the right answer had a higher mean age, were more likely to work outside the home and to be better educated. The existence of previous children did not influence the answer.ConclusionsIn some maternity hospitals, parents still believe the side sleeping position to be best for their children. To provide an example in maternity wards, all health professionals should accept the supine position as the best for preventing SIDS.