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J García Puig

Publications and source records attributed to J García Puig.

At least 19 recordsLinked to original sources
PubMed1994

[Clinical spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: study of 12 cases].

BACKGROUND: The hypoxanthine-guanine phosphoribosyltransferase deficiency (HGPRT) may have two clinical forms: that of the Lesch-Nyhan syndrome (complete HGPRT deficiency) and that of the Kelley-Seegmiller syndrome (partial HGPRT deficiency). The clinical and biochemical features of the HGPRT deficiency are not completely known. METHODS: A series of 12 patients, 8 with the Lesch-Nyhan syndrome and 4 with the Kelley-Seegmiller syndrome are described. The plasma and urine concentrations of hypoxanthine, xanthine and uric acid were compared with those obtained in 20 normal subjects and 41 patients with primary gout. The molecular defect which determines the deficient HGPRT activity was studied in one patient with the Kelley-Seegmiller syndrome. RESULTS: The 8 patients with the Lesch-Nyhan syndrome presented choreoathetosis, corticospinal motor system dysfunction, mental retardation and signs of self mutilation. The neurologic manifestations of the patients with the Kelley-Seegmiller syndrome were very heterogeneous: two patients had psychomotor retardation with spastic movement, one was mentally retarded with generalized dystonia and one patient only had gout with no neurologic manifestations. The erythrocytic HGPRT activity ranged between 0.28 and < 0.01 nmol/h and mg of hemoglobin in all the patients. Plasma and urine purine concentrations were very high, being greater than those in normal subjects and patients with gout (p < 0.01). A mutation was identified in exon 3 (substitution of guanine with thymine) conditioning the substitution of the normal glycine amino acid by valine (HGPRT Madrid) on molecular study. CONCLUSIONS: The hypoxanthine-guanine phosphoribosyltransferase deficiency has a heterogeneous clinical expression. The activity of this enzyme in erythrocytes and the results of the metabolism of the purines do not allow prediction of the severity of the clinical manifestations.

Adult↗
PubMed1994

Clinical and biochemical aspects of uric acid overproduction.

Purine nucleotides are synthesized and degraded through a regulated series of reactions which end in the formation of uric acid. Increased uric acid synthesis may be the result of two major pathophysiological disorders: increased de novo purine synthesis and enhanced purine nucleotide degradation, both of which may be the result of an increased or decreased enzyme activity. In addition, some conditions and disorders associated with uric acid overproduction have been recognized as the result of increased ATP degradation or decreased synthesis of ATP. The clinical manifestations of the diseases leading to excess uric acid synthesis are heterogenous, but symptoms related to uric acid overproduction are always secondary to the precipitation of crystals in soft tissues, joints, and the kidney excretory system. In clinical practice, serum urate concentration and urinary uric acid excretion are used to assess uric acid synthesis, taking into account that a purine-rich diet can be a confounding variable. Quantification of uric acid precursors, such as adenosine, inosine, guanosine, hypoxanthine, and xanthine, in biological fluids and intracellular nucleotides has provided further insight into the metabolic disturbances underlying disorders associated with uric acid overproduction. Additional studies are necessary to define precisely the metabolic derangement in idiopathic uric acid overproduction and to assess fully the consequences of increased purine nucleotide degradation, such as free-radical formation, increased adenosine synthesis, and reduced synthesis of signal transducers.

Adenosine Triphosphate↗
PubMed1994

Massive cerebral calcification in systemic lupus erythematosus: report of an unusual case.

A 38-year-old woman with systemic lupus erythematosus (SLE) and an acute neurological event was studied with computed tomography (CT) and magnetic resonance (MR). Marked intracranial calcification mimicking that seen in hypoparathyroid states was found. The clinical significance of this finding is not clear and the mechanism for cerebral calcification remains unknown.

Adult↗
PubMed1994

[Physiopathology and treatment of acute gouty arthritis].

Severe gouty arthritis is a clinical expression of a very intense inflammatory process. The initial pathogenic event which sets off the chain process is the intraarticular deposit of monosodium urate crystals. However, urate crystals do not always promote an inflammatory process (e.g., dormant tophus), and only a minority of patients with hyperuricemia develop gout. The therapeutic bases for gout should be based on the knowledge surrounding the physiopathology of the inflammatory process. In this study, we present the physiopathology of severe gouty arthritis in order to improve understanding of its treatment.

Acute Disease↗
PubMed1992

[Treatment of esophageal candidiasis with fluconazole in acquired immunodeficiency syndrome. Comparative study of 2 therapeutic schemes].

BACKGROUND: To evaluate the efficacy and pharmacological safety of 2 therapeutic trials with fluconazole in candida esophagitis in AIDS patients. METHODS: A total of 75 episodes of candida esophagitis in 70 AIDS patients were included in an open prospective study. In group I 36 patients were included who received 200 mg of fluconazole orally the first day followed by 100 mg daily for 4 weeks. In group II (34 patients) the length of treatment was reduced to 10 days with the same daily doses. Therapeutic response was evaluated by esophagoscopy, biopsy and fungal culture. RESULTS: The protocol was completed at 68 episodes with a cure being obtained in all but 2 patients in group II. No significant differences in clinical response were found between the 2 groups. The incidence of oropharyngeal colonization at the end of treatment was greater in patients from group I than from group II (43% vs 11%). Fluconazole was well tolerated in all the patients. A slight alteration of the hepatic enzymes was observed in 29 cases (40%) with a lower incidence in the shorter time group (p less than 0.001), however, treatment was discontinued only in 1 patient because of severe asymptomatic hepatic dysfunction to which a relation with the drug is unclear. CONCLUSIONS: Fluconazole in an efficient and safe agent in the treatment of candida esophagitis in AIDS patients. A 10 day treatment is a useful as longer treatment and has a lower risk of adverse effects.

Acquired Immunodeficiency Syndrome↗
PubMed1992

[Secondary prevention of esophageal candidiasis with fluconazole in acquired immunodeficiency syndrome].

In order to evaluate the efficacy of 200 mg single weekly dose of fluconazole in the secondary prophylaxis of esophageal candidiasis in AIDS, 18 patients who had an endoscopic confirmation of cure after an esophageal candidiasis, were studied. Mean follow up period was 12.5 months (limit: 1.5-18) and 11 patients completed prophylaxis for 11.2 months (limit: 2-18). Fluconazole was interrupted in the 7 remaining patients due to different reasons after 10 months and they were followed for 3.2 more months (limit: 1-5). Ten patients relapsed with a total of 17 episodes (7 oropharyngeal and 10 esophageal). Only 4 of the 18 patients (22%) relapsed while on correct prophylactic treatment. On the other hand, 6 out of 7 patients (86%) relapsed in the absence of fluconazole (p less than 0.001). The relapse incidence rate in both groups was 0.09 and 1.46/100 patients/day respectively (p less than 0.001) and its appearance was much earlier (1.3 versus 9.5 months) in patients not receiving prophylaxis. Relapses did not correlate with CD4 cell level, HIV-Ag level, opportunistic infections, use of other drugs or mortality. Fluconazole was interrupted in 3 patients because of alternations in liver enzymes although its relationship with the drug was not confirmed. These results indicate that the administration of Fluconazole 200 mg/week in a single dose is very efficiency in secondary prophylaxis of esophageal candidiasis in AIDS patients.

Acquired Immunodeficiency Syndrome↗
PubMed1990

[Prenatal diagnosis of Lesch-Nyhan syndrome].

A pregnant woman with Lesch-Nyhan's syndrome (hypoxanthine-guanine-phosphoribosyltransferase, or HGPRT deficiency) requested antenatal diagnosis. HGPRT and adenine phosphoribosyltransferase (APRT) activities were measured in fetal erythrocytes by funiculocentesis in the 21st gestational week. HGPRT activity was lower than 0.01 mmol/h/Hb g (normal value 87.0 +/- 16.05 mmol/h/Hb g). APRT activity was increased (44.0 mmol/h/Hb g) as compared with that from 50 normal individuals (28.1 +/- 6.9 mmol/h/Hb g). Pregnancy was interrupted and the antenatal diagnosis of Lesch-Nyhan's syndrome was confirmed after delivery. In the 20th gestational week, amniotic fluid showed a marked increase if oxypurines (hypoxanthine, xanthine and uric acid) as compared with the values in 14 amniotic fluids from normal pregnancies and gestational age within 15-22 weeks. The present study illustrates the possibility to make the antenatal diagnosis of Lesch-Nyhan's syndrome by funiculocentesis . The previously unreported finding of a marked abnormality of oxypurine concentration in amniotic fluid represents a new outlook for the diagnosis of enzymatic defects of synthesis and degradation of purine nucleotides.

Adult↗
PubMed1990

[Metabolism of purine nucleotides in the central nervous system in patients with phosphoribosylpyrophosphate synthetase hyperactivity and neurosensory deafness].

The overactivity of PRPP synthetase is transmitted as a sex-linked abnormality, being characterized by uric acid overproduction and, in some patients, by muscular hypotonia, neurosensitive deafness and/or ataxia. The pathogenesis of these neurologic abnormalities is not yet known. The CSF concentrations of end products of the neuronal metabolism of purines--hypoxanthine for the adenine nucleotides and xanthine for guanine nucleotides--have not been previously studied in patients with overactivity of PRPP synthetase. We have evaluated the plasma and CSF levels of hypoxanthine and xanthine in a 8-year-old male with tophaceous gout and neurosensitive deafness and in his mother, who had gout without neurological involvement. PRPP synthetase overactivity was demonstrated in fibroblast culture; the male was hemizygote and his mother was heterozygotic. In 4 normal individuals, the plasma levels of hypoxanthine and xanthine were 1.7 +/- 0.4 microM and 0.9 +/- 0.2 microM (mean +/- SEM), respectively, while in in CSF they were 3.3 +/- 1.1 microM and 2.0 +/- 0.2 microM. The hemizygote male showed a considerable increase in hypoxanthine level (5.6 microM in plasma and 22.1 microM in CSF); the plasma and CSF xanthine levels were 1.8 and 4.5 microM, respectively. The heterozygotic female showed moderately increased plasma hypoxanthine levels (3.9 and 10.6 microM) and normal xanthine levels (1.3 and 1.8 microM). These results suggest an increase in the degradation of purine nucleotides in the central nervous system of patients with PRPP synthetase overactivity and neurological symptoms. The predominance of hypoxanthine over xanthine may indicate a greater increase of the degradation of adenine rather than guanine nucleotides.

Adult↗
PubMed1990

[Prevalence, physiopathology and processes associated with hypouricemia in a hospitalized population: analysis of 27,987 analytic determinations].

A prospective analysis of 27,987 serum samples revealed a uricemia less than 2.0 mg/dl in 172 patients (prevalence of 0.61%). One hundred and six patients were being treated with more than one drug. Amongst the 21 hypouricemic patients receiving only one drug the more frequently associated drugs were beta-lactamases, salicylates at high doses, and carbamazepine. Out of the 45 hypouricemic patients who were under no treatment, there were 12 cases of pregnancies, 6 had a neoplastic disease, 2 suffered chronic hepatopathy and one presented hereditary xanthinuria. Out of 7 non treated patients, 6 were uric acid hypersecretors and only one was hyposecretor. The results indicate that hypouricemia: a) is usually associated with an elevated renal excretion of uric acid and b) it is frequently associated with the administration of drugs although it can also be included in the context of multiple systemic disease.

Adolescent↗
PubMed1989

[Hemorrhagic syndrome associated with a factor VIII:C inhibitor in a patient with lymphoma].

Acquired hemophilia (idiopathic or secondary) is an uncommon clinical condition. A 70-year-old male had a severe hemorrhagic disorder, and an IgG inhibitor of the factor VIII:C was detected in plasma. During the acute phase he was treated with packed red blood cells, frozen fresh plasma and polyvalent immunoglobulins. The hemorrhagic features subsided but the circulating anticoagulant persisted. The administration of an activated prothrombin complex permitted to make the diagnosis of the underlying disease, a highly malignant T type lymphoma. During the treatment with corticosteroids and polychemotherapy the inhibitor activity disappeared.

Aged↗
PubMed1989

[Asymmetric septal myocardial hypertrophy associated with pheochromocytoma: reversibility of cardiopathy after extirpation of chromaffin tumor].

Left adrenal pheochromocytoma and mesenteric paraganglioma were diagnosed in a 52-year-old female with diabetes mellitus (fasting blood glucose 14.5 mmol/l), hypertension and myocardial asymmetric septal hypertrophy (septal/left ventricular free wall thickness 1.31). Carbohydrate metabolism and cardiac disease returned to normal after the resection of both tumors (fasting blood glucose 5.2 mmol/l, septal/left ventricular free wall thickness 1.10). This is the first patient reported in the Spanish literature in whom asymmetric septal hypertrophy has been correlated with the hypersecretion of catecholamines.

Adrenal Gland Neoplasms↗
PubMed1989

[Degradation of purine nucleotides in patients with chronic obstruction to airflow].

The increase in hypoxanthine (Hx), xanthine (X), uric acid (VA) and total purines (TP) that may be found in several clinical conditions associated with tissue hypoxia has been attributed to an increase in adenine nucleotides degradation by a reduced ATP synthesis caused by oxygen deprivation. To test this hypothesis we have investigated the urinary excretion of Hx, X, VA, TP and radioactivity elimination after labeling the adenine nucleotides with adenine (8-14C) in 5 patients with chronic airflow obstruction (CAFO), in the basal state and after oxygen therapy (FiO2, 24%). The results were compared with those from 4 normal individuals. Patients with COFA showed an increase of the renal elimination of Hx, X, VA, TP and radioactivity, which was significantly different from the control group (p less than 0.05). Oxygen administration was associated with a significant reduction in the excretion of purines and radioactivity (p less than 0.01), which decreased to values similar to those found in normal individuals. These findings suggest that in patients with COFA and severe hypoxemia there is a marked increase in the degradation of adenine nucleotides. The normalization of the purine and radioactivity excretion after oxygen therapy points to a basic role of oxygen in the catabolism of adenine nucleotides.

Aged↗