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Biomedical subjects

J Colomer

Publications and source records attributed to J Colomer.

At least 37 records · Page 2Linked to original sources
PubMed1984

[Late infantile form of Pompe's disease. Deficiency of alpha-1,4-glucosidase (acid maltase)].

Four patients with late infantile form of Pompe's disease, acid maltase deficiency, are presented. In three of them an autosomical recessive genetical transmission was demonstrated. Signs of neuromuscular involvement were present in all of our patients before four years of age. All cases had elevated muscle and liver enzymes. Echocardiographic studies revealed a septal hypertrophy in three patients. Presence of myotonic discharges on EMG examination suggested the diagnosis in three cases. Pathological and biochemical studies of two siblings, one of them aged 14 months, without clinical findings, demonstrated that the enzyme in late infantile form of acid maltase deficiency is missing from birth. Clinical and pathological muscular involvement of case number 4, in front of normal amounts of acid maltase in this muscle, must alert clinicians to perform enzymatic studies in various tissues in order to confirm diagnosis and better understand biochemical basis of the disease.

Adolescent↗
PubMed1983

[Hereditary neuropathies in childhood. Study of 31 patients].

Authors present the results of prospective clinical and electrophysiological study on 31 children diagnosed of inherited sensory-motor neuropathy. Patients were grouped according to their electrophysiological findings and their mode of inheritance, which was ascertained in all the cases by clinical and electrophysiological study of their parents. The large number of patients, felt into a group with identical characteristics of type I, HSMN of Dick and Lambert. A second group of patients, with a wide range of clinical manifestations, in some cases suggestive of type III HSMN, showed a sporadic mode of inheritance and evidence of demyelination on electrical studies. The third group of patients, which were classified as type II HSMN, showed again, a wide range of clinical manifestations, with some patients severely involved, and thus, casting some doubt on the benign prognosis of this type of neuropathy claimed by some authors.

Adolescent↗
PubMed1980

[Glycogenosis type I. Therapy (author's transl)].

Two new patients of glucogenosis type I, fed with a special diet, are described. Various indicated treatments to correct metabolic alterations of the disease were revised (diet, drugs, surgery). Different forms of therapy are compared according with results obtained. Metabolic acidosis and hypoglycemia improved. Growing rate and hyperlypemia did not improved. Uricemic acid levels with alopurinol got normal. Possible implications of this results are discussed.

Child, Preschool↗
PubMed1978

[Fasting insulinemie levels and after overload with oral glucose in overweight children (author's transl)].

Fasting insulinemie levels and after overload with oral glucose are studied in a group of 30 overweight children aged between 2--12 years. The results are: An increase in insulin secretion according to the age only in the overload test. The insulin and glucose areas in the overweight child is statistically bigger than in the healthy child. We conclude that hyperinsulinism in obesity, may be related with a insuline-resistance and with some kind of glucose intolerance.

Child↗
PubMed1977

Therapeutic and collateral effects of 25-hydroxycholecalciferol in vitamin D deficiency.

The clinical and biochemical response to 25-hydroxycholecalciferol (25-HCC) and vitamin D3, 150 microgram/day for 20 days has been compared in infants aged 3--18 months with nutritional rickets. The infants were allocated at random to Group I (11 infants) treated with 25HCC and Group II (9 infants) treated with vitamin D3. In addition 15 matched control children without rickets were allocated to Group III and received 25-HCC 75 microgram/day for 20 days. Preliminary studies showed that plasma calcium, phosphorus, alkaline phosphatase and urine pH all differed significantly between the rachitic and control groups. The biochemical parameters in both groups of rachitic children became normal after treatment with the exception of plasma alkaline phosphatase which remained elevated. The control group showed a significant increase in plasma and urine calcium values in spite of the low dose of 25-HCC. The findings suggest that 25-HCC is as effective as vitamin D3 in the treatment of rickets but did not demonstrate any therapeutic advantage.

Alkaline Phosphatase↗
PubMed1977

Fosfomycin in infantile acute gastroenteritis.

A clinical test was carried out on 83 children suffering from infectious diarrhoeal processes who were treated with fosfomycin with the oral and paranteral route. Coproculture was carried out in all the children before the beginning of treatment and in 51 of them it was repeated at the end of treatment. Antibiograms were made on the isolated germs and their MIC to fosfomycin studied. Tolerance and secondary effects of the medicament were also studied. The study was considered insufficient in 13 patients so that the evaluation was based on 70, making 4 failures and 60 clinical cures. Administration of fosfomycin causes the eradication of serotypeable E. coli and is followed by an increase in the number of Proteus sp. and Klebsiella/Enterobacter. The sensitivity of the faecal flora to fosfomycin has been very high, except for the strains of Proteus sp. and Klebsiella/Enterobacter. The accumulative percentage of the MIC to fosfomycin of all the strains isolated shows that more than 75% of them are inhibited at concentrations under 32 mug/ml. Tolerance was good and no secondary effects were observed except for the sporadic rise in the SGPT of the children.

Acute Disease↗
PubMed1977

[Problem oriented pediatric record (author's transl)].

The object of this paper is the presentation of the problem griented medical record now in use at the Department of Pediatrics of the Faculty of Medicine of the University of Valencia. The main documents of this medical record (problem list, discharge summary, anamnesis and physical examination summary, and medical record summary) are given describing the characteristics of format and the rules for its completion. The relationships between the main documents are shown.

Child↗
PubMed1977

[Fasting insulinemie levels and after overload with oral glucose in malnourrised children (author's transl)].

Fasting insulinemie levels and after overload with oral glucose are studied in 43 malnourished children aged between 3 months and 12 years. The results are: Increasing of insuline secretion according to the age. This correlation is positive in both, fasting levels and after overload. We found a tendency to low levels of insuline without statistical significative differences on comparing the healthy child of the same age, excluding the infants.

Adolescent↗
PubMed1977

[Serum insulin concentration, basal and during an standardized oral glucose tolerance test in healthy children (author's transl)].

Serum insulin concentration was measured, basal and during an standardized oral glucose tolerance test in 110 healthy children. The patients are divided in four groups according to their pediatric ages. The method used to measure serum insulin was a radioimmunoassay and the glucose by oxidative enzymatic procedures. The calculations of the results has been made with log-conversion in order to follow a normal log distribution of the data. Glucose, insuline areas and some insulinogenic index (ratio) are made as well. And relations of multiple correlations. With our results we can conclude: There is a general tendency in all our cases to low values of insulin most marcate in the fasting levels. We defined like hiposecretor the 4.1% of all our patients. The existence of a positive correlation between insuline-age in fasting determinations as well as in overload test.

Adolescent↗
PubMed1976

[Pulmonary disease during mtx therapy in a.l.l. (author's transl)].

Authors describe three cases of pulmonary disease showed in three children with acute lymphoblastic leukemia during maintenance therapy with Methotrexate (MTX) (Dose: 30 mg/sm/W). The initial symptom occurs in the lapse between 40 and 135 days within the first MTX maintenance period and in 35 days in the second maintenance period. Leukopenia with eosinophilia (192-264 eosinophils/mm3) occurs in case 1. The maintenance of the MTX therapy in this case ends with death of the patient. Radiological studies show basal bilateral pulmonary infiltrations, with pleural involvement in one case. Authors insist in the drug (MTX) suppression as main therapy and agree with the opinion of some authors concerning to the 31 cases previously published.

Child↗
PubMed1975

[Variations in hyperbilirrubinemia in low birth weight newborns under phototherapy and continous or discontinous agar oral administration (author's transl)].

Therapeutic attitude in hyperbilirrubinemia is always worth because other infrequent complications but not for this, less important. Phototherapy innocuousness, largely demonstrated, fosters its profilactic use at beginning and not only for those babies with serum bilirrubin over 10 mg % in the first day of life. Previously we have reported positive results with agar oral administration without collateral effects. On this grounds we have planned the following experience in a homogenous group of L.B.W.: one group was fed with agar previously to each formula administration; other group received the same amount of agar but divided in only three administrations in 24 hours; the last group received continuous phototherapy for 96 hours with a white cold fluorescent light from a source of 8-Vita-lite lamp of 40 watts with a intensity of 500 foot candle and 30 lumens. All of these babies weighed less than 2.500 g. and were between 10 and 90 percentil of Lubschenko diagram. They were fed with the same formula and same time table with no infusions, rejecting all that presented any type of pathology. Obstetric conditions were basically identical. This population was randomly divided in four groups. 1) Control group with no profilaxis, but with identical bilirrubin andhematocrit determinations. 2) Group with continuous agar oral administration, 125 mg. before each of the seven formula feeding. 3) Group with discontinuous agar administration, 250 mg. before three of the seven formula feeding. 4) Group with continuous phototherapy for 96 hours. These is initial identification of the groups with statistic signification, and after that a quantitative and sequential evolution of bilirrubin is analized in each group.

Administration, Oral↗
PubMedDate not supplied

Postoperative hypocaloric parenteral nutrition. A study in patients without neoplasm.

Hypocaloric peripheral parenteral nutrition during the postoperative period aims to reduce or minimize protein loss and avoid use of central venous catheters. The efficacy of such nutrition in regard to postoperative outcome and nitrogen balance was evaluated in comparison with standard fluid therapy. The study was performed on 49 well-nourished patients who underwent major surgery for non-neoplastic conditions. Group I received 1 g amino acids + 1 g xylitol and 1 g sorbitol/kg body weight, while standard fluid therapy was given in group II. No significant intergroup difference was found in serum levels of albumin, total protein, prealbumin, transferrin or retinol-binding protein. The blood urea, nitrogen excretion and nitrogen balance were significantly higher in group I. The postoperative outcome was similar in both groups, as were the observed complications. Thus although the nitrogen balance was superior in group I, no intergroup difference was clinically evident.

Abdomen↗