[Lafora disease in childhood].
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Biomedical subjects
Publications and source records attributed to M Castro-Gago.
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Transit times through the whole colon and its segments were measured in 10 healthy children and 14 children suffering constipation secondary to myelomeningocele. The subjects ingested radio-opaque markers on three successive days, and on the fourth a plain abdominal roentgenogram was taken using fast film. In the healthy children, total colonic transit time (mean +/- SD) was 37.8 +/- 6.2 h, with segmental times of 10.8 +/- 3.5 h for the right colon, 12.2 +/- 2.7 h for the left, and 14.7 +/- 2.1 h for the rectosigmoid; upper normal limits of 17.8 h for the right colon, 17.6 h for the left, 19.1 h for the rectosigmoid, and 50.2 h for the total colonic transit time were established. In the constipated children, the total transit time was 59.9 +/- 5.4 h, with segmental times of 15.9 +/- 2.3 h for the right colon, 18.9 +/- 2.3 h for the left, and 25.0 +/- 2.6 h for the rectosigmoid. The technique described is simple, is easy to use in clinical practice, and involves a lower radiation dose than other methods. It may prove useful for measurement of colonic transit time in suitable patients.
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Adenosine monophosphate, inosine monophosphate, inosine, adenosine, guanosine, adenine, guanine, hypoxanthine, xanthine, uric acid and pyrimidine bases were determined in the CSF of 18 children after simple febrile seizures and in a control group. There was no statistically significant difference between the two groups for any of these metabolites. This suggests that simple febrile seizures neither significantly disturb the metabolism of nucleotides, nucleosides or bases, nor significantly deplete neuron adenosine triphosphate ATP levels.
We administered therapeutic doses of valproic acid (VPA), carbamazepine (CBZ), phenytoin (PHT), and phenobarbital (PHB) to mice for 7 days, and 8 hours after the final dose we measured the concentrations of carnitine in serum, liver, kidney, skeletal muscle, and heart, and in the 7 days' accumulated urine. The results for serum and urine show that VPA induced a significant increase in renal clearance of acylcarnitine without affecting that of free carnitine, whereas CBZ, PHT, and PHB significant increased clearance of free carnitine but not that of acylcarnitine. Thus, VPA appears to reduce tubular resorption of acylcarnitine, and CBZ, PHT, and PHB appear to reduce tubular resorption of free carnitine.
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Carnitine concentrations in serum, liver, kidney, muscle and heart were determined 30 min, 2 hr and 4 hr after administration of single 50 mg/kg doses of valproic acid (VPA) or octanoic acid (OTA) of fasting mice. Half an hour post-administration (p.a.) of VPA, free carnitine concentrations were smaller than in controls in serum, liver, kidney and heart. Four hr p.a., the effects of VPA had disappeared from all the carnitine sources, which now had concentrations that were not significantly different from those of controls. The effects of OTA are different from, and sometimes the opposite of, those of VPA, showing that the effects of VPA are specific to it. Hyperammonemia, on the other hand, was greatest 4 hr p.a. of VPA. These findings show that the effect of VPA on carnitine metabolism is immediate but transient, and accordingly suggest that the carnitine deficiency observed in patients under prolonged treatment with VPA-containing anticonvulsants must be due to a more complex mechanism than direct interaction between carnitine and VPA.
Serum amino acids were determined in 22 epileptic children treated with valproic acid. This treatment caused hypocarnitinemia in all, and hyperammonemia in 16. Regardless of the blood ammonia levels, values for glutamic acid, arginine, glycine, serine and alanine were higher than those of normal controls, while aspartic acid and ornithine were lower. These findings suggest that valproate causes intramitochondrial dysfunction of the urea cycle.
We investigated 55 children, aged from 24 months to 14 years with neurogenic bladder dysfunction secondary to myelomeningocele, by serial urodynamic. They were serially evaluation over 2-5 years. Management consisted of drug therapy together with intermittent vesical catheterization in different combinations on the basis of initial urodynamic assessment. In 5 children with a hypotonic sphincter, it was necessary to implant an artificial sphincter. With this regimen control or frank improvement of micturition was achieved in 53 patients, urodynamic function became normal or improved in 54, and recurrent urinary tract infections persisted only in 5 patients. In the light of these results, we believe that treatment of the neurogenic bladder secondary to myelomeningocele should be determined by initial urodynamic evaluation.
The xanthine, hypoxanthine, and total oxypurine levels were determined in the CSF of 28 hydrocephalic patients (age from newborn to 2 years) and 8 healthy controls using HPLC. The Evans' index, the mean weekly increase in cranial circumference, and the intracranial pressure were also measured. Of the hydrocephalic patients 13 were self-compensated and the other 15 had a shunt implanted during the course of the study. The mean xanthine, hypoxanthine, and total oxypurine levels in the normal children were 5.20, 5.94, and 11.29 mumol/l, respectively. In the self-compensated hydrocephalics these levels were 5.17, 5.71, and 10.79 mumol/l, respectively. In the noncompensated hydrocephalics, they were 9.90, 9.91, and 19.82 mumol/l. The differences between the latter group and the first two are statistically significant (P less than 0.001). The mean Evans' index and the mean weakly increase in cranial circumference in the self-compensated hydrocephalics were 0.35 and 0.25 cm, respectively. In the noncompensated hydrocephalics, they were 0.55 and 0.95 cm. The differences between the two groups are statistically significant (P less than 0.001). Two weeks after implantation of shunts in the noncompensated cases, the mean xanthine, hypoxanthine, and total oxypurine levels fell to 4.22, 4.57, and 8.80 mumol/l, respectively. These changes are statistically significant (P less than 0.001). We think that the two criteria (clinical and biochemical) are equally useful for the prediction of self-compensation in hydrocephalic children and that the oxypurine values after shunt implantation can be used to monitor progress in noncompensated cases.
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We report 6 cases of Rett syndrome, a disorder that occurs only in girls and is characterized by slowly progressive deterioration of higher brain function, with dementia and autistic behavior, loss of purposeful use of the hands and deceleration of head growth. We consider interesting this report because Rett syndrome would be an important cause of mental retardation in girls, which has been overlooked until few years ago.
Hyperlipemia has been recently described in children with migraine, being suggested that this alteration is in the base of the disease. In 35 children with intense migraine we have measured the plasmatic levels of cholesterol, triglycerides and lipoproteins. In all patients the triglycerides and LDL levels were normal; the cholesterol levels were elevated in 4 children; in 8 it was observed an elevation of HDL fraction and in 11 VLDL was the elevated fraction. Facing this results, we think that hyperlipemia and hypercholesteremia are not in etiologic relation with the migraine in children.
Hydrocephalus constitutes one of the most common complications of tuberculous meningitis. Twenty-six cases of tuberculous meningitis in children are reported. The authors analyze the clinical features, CT scan findings, and clinical evolution. The criteria for and results of the use of cerebrospinal fluid shunts are reviewed.
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Authors review 70 consecutive cases of intussusception treated from 1969 to 1984. Most patients (87.5%) were under one year, and male/female ratio was 2/1. Nutritional status was good as 75.7% were above 50 percentiles for age. There was a higher seasonal incidence in spring and summer. Most frequent presenting symptom were weeping/pain (87.1%), rectal bleeding (82.8%) and vomiting (78.5%). Typical symptomatology was present in only 48.5%. Plain X-ray of abdomen and ultrasonography are the best diagnostic aid (91.4% and 90%). Hydrostatic reduction was successful in 30.1% whereas 51 cases had to be operated with a resection rate of 27.5%. Half of the patients over two years had an organic leading point. Complications, 8.6% were related with age, clinical course and need for bowel resection.
C reactive protein lactate and LDH isoenzymes were quantified in CSF of 32 children with meningitis (27 bacterial and 5 viral). Results in cases with bacterial meningitis were as follows. C reactive protein sensitivity was 11.1% and specificity was 100%. Lactate sensitivity was 33.3% and its specificity was 80%. LDH1 and LDH5 had a sensitivity of 44.4%, and specificities of 100 and 60% respectively. Considering these results an has believe that none of these tests is definitive in diagnosis of bacterial meningitis in children.