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J Colomer

Publications and source records attributed to J Colomer.

At least 73 records · Page 4Linked to original sources
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

[Substitution indexes in ambulatory surgery: measure, count and compare].

OBJECTIVE: Compare the substitution indexes of the ambulatory surgery activity done in the Vall d'Hebron Hospital with those indexes obtained from the all public hospitals of Catalonia which constitute the Public Hospital Net. METHODS: There have been calculated the substitution indexes of the 65% of DRGs which are treated with ambulatory surgery at the Vall d'Hebron Hospital and in the global of public hospital net in Catalonia. For this purpose, it has been used the MBDS of the years 1998 and 1999. The means of the substitution indexes have been compared with a Z test. RESULTS: The means of the substitution indexes are of a 48.88% for the Vall d'Hebron Hospital and of a 35.14% for the whole public hospitals. The difference is statically significant (p < 0.0001). Moreover, the highest substitution indexes are the same for both groups and are the follow: 039, 229,364, 262, 062, 362 y 342. CONCLUSIONS: Taking into account the present techniques of benchmarking in the health care field, this work shows that the substitution indexes are a valid tool that can be used to compare hospitals, specially in the case that it could be possible to work with robust data bases.

Ambulatory Surgical Procedures↗
PubMedDate not supplied

Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene.

Limb-girdle muscular dystrophy type 2C (LGMD2C) is an autosomal recessive muscular dystrophy with primary gamma-sarcoglycan deficiency, generally associated with a severe clinical course. gamma-sarcoglycan, a 35kDa dystrophin-associated protein, is encoded by a single gene on chromosome 13q12. Six different mutations have been described in that gene, and it has been proved they are the origin of the disease. One of these mutations (C283Y), a G-->A transition in codon 283, was recently and exclusively identified in Gypsy patients from different European countries. We report the study of 11 LGMD2C unrelated Gypsy families (nine Spanish and two Portugese). The muscle biopsies of these patients showed a drastically decreased immunostaining with alpha and gamma-sarcoglycan antibodies. All the patients were homozygous for C283Y missense mutation, and all affected chromosomes (patients and heterozygous relatives) carried the allele 5 (112 bp) of the intragenic microsatellite D13S232. Unexpectedly, this allele is most frequent in the Caucasian population but not in the normal Gypsy population. The clinical severity of all patients demonstrates that the C283Y missense mutation in a homozygous state causes a severe LGMD2C (DMD-like). The elevated number of families ascertained let us assume that LGMD2C is prevalent in the Gypsy population, and that all the families have inherited a founding mutation.

Consanguinity↗
PubMedDate not supplied

[Rett's syndrome in the Spanish population].

INTRODUCTION AND OBJECTIVE: Rett syndrome was described in 1966 and became known through the English medical literature in 1983. There are typical and atypical forms. The objective of this study was to record the cases diagnosed in Spain and discover their clinical characteristics in order to describe its phenotype and geographical distribution. PATIENTS AND METHODS: We know of 207 cases and have obtained the records of 168 of these patients. A protocol and data collection programme has been developed giving the criteria for inclusion, and data which support or exclude this. Data collection was by post and the data for identification were the date of birth and the initials of the name and two surnames. With these variables, double-registering of patients was almost impossible. A statistical study with descriptive analysis and a study of continuous and alternating variables was immediately done. RESULTS AND CONCLUSION: The results gave the main characteristics, the differences between typical and atypical cases and a comparative study of variables. It has given clinical data which may be useful for prognosis of the condition in the future.

Adolescent↗
PubMedDate not supplied

[Sarcoglycanopathies].

INTRODUCTION: Identification of several clinical pictures in relation to a deficit of various protein components of the sarcoglycan complex, has allowed a new classification to be established for muscular dystrophies, correlating the protein alpha, beta, gamma, sigma deficit with a type of girdle dystrophy ('Limb-Girdle Muscular Dystrophy', LGMD) and the genomic identification respectively: 2D/17, 2E/4q12, 2C/13q12, 2E/4q12, 2F/5q33. The correlation between the various proteins and complexes and the dystrophin is known as Dystrophin Associated Glycoproteins (DAG) and Dystrophin Related Proteins (DRP). This interrelationship is fundamental to the study of the different components and the key to immunohistochemical study and evaluation amongst other things. Patients with alpha-sarcoglycan deficiency (LGMD 2D) show great clinical and genetic heterogeneity sometimes leading to severe degrees of muscular dystrophy similar to Duchenne muscular dystrophy. The mutation R77C is a recurrent mutation and the cause in over one third of the patients with this deficiency. Absence of gamma-sarcoglycan is also a cause of severe muscular dystrophies with the Duchenne phenotype. It has been described in the Mediterranean region, Japan and Brazil. The delta 525T mutation is the commonest and also, as occurs with C283Y (specific to the gypsy race), is a foundational mutation. Deficit of beta-sarcoglycan (LGMD 2E) gives rise to different grades of clinical severity, frequently with cardiac involvement. At present the phenotype of sigma-sarcoglycan deficit (LGMD 2F) has yet to be described [REV NEUROL 1999; 28: 150-3].

Adult↗
PubMedDate not supplied

[Neuromuscular pathology in a critical pediatric patient].

OBJECTIVE: To describe and provide diagnosis guidelines for the neuromuscular pathology of the pediatric critical patients, manifested as extubation difficulty, based in our experience. CLINICAL CASES: A retrospective study has been performed on three patients in the Pediatric Intensive Care Unit that were diagnosed by using clinical, analytical and electromyographical findings. In the three patients the presence of the disorder was suspected due to the extubation difficulty and the hypotony. All them received vecuronium as neuromuscular blockage while dexamethasone was provided to one of them due to a nodal tachycardia. Myopathic causes were discarded in view of the normally of the muscular enzymes. The electromyography showed an axonal disorder in all three child. Neither lumbar puncture nor muscular biopsy were performed in any of them. CONCLUSIONS: The three patients were diagnosed for a drug neuropathy (neuromuscular blocked and/or corticotheraphy). There were described another causes of the critical patient polyneuropathy in the literature, but we didn't find any of them.

Adolescent↗
PubMedDate not supplied

[Aspects of neuropathy in mitochondrial diseases].

INTRODUCTION: The existence of neuropathy has been described in mitochondrial disorders such as MELAS, MERRF, Leigh's syndrome, the Kearns-Saye syndrome, myoneurogastro-intestinal encephalopathy and progressive external ophthalmoplegia and constitutes a basic component of the NARP (neuropathy, ataxia and retinosis pigmentosa). However, the general prevalence of the neuropathy and its characteristics within the mitochondrial encephalopathies is not well understood. OBJECTIVES: To characterize the neuropathy and try to establish a genotype-phenotype correlation. PATIENTS AND METHODS: Within study guidelines, we made a retrospective study of 27 patients, diagnosed as having mitochondrial disease, who had had neurophysiological studies (EMG-ENG). In those in whom neuropathy had been found we analysed the clinical, neurophysiological and genetic characteristics. RESULTS: Neuropathy was present in 37% of the patients who had an average age of 13 years, ranging from 1 to 25 years. Syndromic diagnoses were: 7 encephalomyopathies, one MELAS, one MERRF and one NARP. Four of the patients were classified genetically. In all but two of the patients the neuropathy was asymptomatic. The biochemical alterations seen were: deficit of Complex 1 in 3 patients, of complex III in 3 patients, of complex IV in 2 and of pyruvate dehydrogenase in one patient. The type of neuropathy found was varied, with predominance of axonal-type motor neuropathy but no correlation with either biochemical defects or genetic diagnosis. CONCLUSIONS: Neuropathy is a common finding in mitochondrial disorders and probably is under-diagnosed. The axonal form predominates. We have not been able to establish correlations between phenotypes and genotypes.

Adolescent↗
PubMedDate not supplied

[Mitochondrial encephalomyelitis, lactic acidosis and cerebrovascular accidents (MELAS) in pediatric age with the A3243G mutation in the tRNALeu(UUR) gene of mitochondrial DNA].

OBJECTIVES: To evaluate three patients with the mitochondrial encephalopathy, lactic acidosis and cerebrovascular accident syndrome (MELAS) diagnosed in childhood, with particular reference to the initial symptoms and clinical evolution during the first stage at a pediatric age, and to compare them with other studies on the subject. PATIENTS AND METHODS: Two boys and a girl of 10, 11 and 13 years had tests on lactate, pyruvate and aminoacids in biological fluids under basal conditions and also functional tests and enzyme activity assay of the mitochondrial respiratory chain of a muscle biopsy. We also analysed the particular DNA mutations related to MELAS in different tissues from these patients and in lymphocytes from members of the mothers' families who could be tested. RESULTS: The patients fulfilled the clinical criteria for the MELAS syndrome. Neuroimaging showed cerebrovascular accidents. Neurophysiological studies showed myopathy in one patient and neuroaxonal neuropathy in another. In two cases ophthalmological study showed retinitis pigmentaria and during cerebrovascular accidents transient phenomena of homonymous hemianopsia and cortical blindness were seen. In all patients muscle biopsy showed ragged red fibres and the biochemical study showed an enzyme deficit in the respiratory mitochondrial chain. On molecular genetic study of the mitochondrial DNA (mtDNA) there was a particular mutation A3243G on the tRNA(Leu) in all patients and some members of the mothers' families. CONCLUSIONS: In children with frequent episodes of migraine headaches, vomiting, refractory epilepsy and fatigue the presence of a mitochondrial disease should be suspected. On detection of mtDNA mutations MELAS may be diagnosed even without all the clinical criteria which characterise this syndrome.

Child↗
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↗