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Biomedical subjects

R Giugliani

Publications and source records attributed to R Giugliani.

At least 91 records · Page 5Linked to original sources
PubMed1987

Progressive mental regression in siblings with Morquio disease type B (mucopolysaccharidosis IV B).

A brother and sister with clinical and radiological features of Morquio disease, but with atypical mental regression, are described. Leucocyte and fibroblast beta-galactosidase activity was deficient in the siblings, while N-acetylgalactosamine 6-sulphate sulphatase and neuraminidase were normal. Study of the residual fibroblast beta-galactosidase activity towards 4-methylumbelliferyl and p-nitrophenyl beta-D-galactosides indicated that the mutation resembles that in typical Morquio B disease (increased Km and similar pH maximum) rather than that in GM1-gangliosidosis. The patients have therefore been classified as having Morquio B disease with atypical mental regression rather than GM1-gangliosidosis variants with particularly severe bony abnormalities. The mutation was, however, distinct from that in Morquio B disease since residual activity towards the alternative artificial substrate 4-methylumbelliferyl-beta-D-fucoside was increased. The patients represent further examples of the heterogeneity that can result from mutation at the beta-galactosidase locus.

Bone Diseases, Developmental↗
PubMed1986

Frequency of cystinuria among stone-forming patients in region of Brazil.

Occasional urine samples from 200 stone-forming individuals were screened by the successive application of the cyanide-nitroprusside test, qualitative-semiquantitative thin-layer amino acid chromatography, and quantitative ion-exchange amino acid analysis to determine the frequency of cystinuria in this region of Brazil. Only 1 homozygous cystinuria patient was detected, a lower frequency than 1 to 6 per cent reported in other countries. The patient's family showed a I/I genotype. Since 6 heterozygotes for cystinuria +/II or +/III were also detected, the relative rarity of homozygotes in this sample supports the view of the relatively greater contribution of etiologic factors other than gene frequency to stone formation. The importance of diagnosis based on quantitative amino acid analysis is emphasized because of the different therapeutic and prognostic implications of the homozygote and heterozygote forms of the disease.

Amino Acids↗
PubMed1986

[Börjeson-Forssman-Lehmann syndrome: report of a case].

We present a case of Börjeson-Forssman-Lehmann syndrome characterized by the presence of hypogonadism, grotesque facies, microcephaly, large ears, obesity and convulsions. In addition to these findings, which were detected also in the other patients described in the literature, the present patient showed hyperglycemia and aminoaciduria. In our opinion, the presence of these alterations and the poor evolution of the patient, with death occurring during the first year of life, may contribute to the amplification of the phenotypic spectrum of the Börjeson-Forssman-Lehmann syndrome.

Ear↗
PubMed1985

Heterozygous cystinuria and urinary lithiasis.

Cystinuria is a recessively inherited transport disorder, with at least three mutant alleles (I, II, and III) demonstrable. I/I, II/II, and III/III homozygotes and I/II, I/III, and II/III compound heterozygotes (cystinuric patients) have high urinary concentrations of cystine, lysine, arginine, and ornithine and frequently form cystine stones. +/I heterozygotes (nondetectable) are phenotypically normal, whereas +/II and +/III heterozygotes (detectable) show variable increases in urinary cystine and lysine concentration and at times increases in urinary arginine levels. The objectives of the present study were to determine the frequency of +/II heterozygotes among stone-forming and nonstone-forming individuals from the same region of Brazil and to evaluate the possible relationship between heterozygous cystinuria and urinary lithiasis. When urine samples from 5,150 individuals (5,000 nonstone-forming individuals and 150 stone-forming individuals) were screened by the qualitative cyanide-nitroprusside cystine test, by thin-layer amino acid chromatography, and by quantitative amino acid determination by ion-exchange chromatography, 32 +/II or +/III heterozygotes (26 nonstone-forming and six stone-forming individuals) were detected. The frequency of detectable heterozygotes among the stone-forming individuals (1:25) was significantly higher than that among nonstone-forming individuals (1:104), which provides additional evidence that heterozygosity for +/II and +/III cystinuria is a risk factor in the formation of urinary stones. No significant difference was detected in urinary cystine concentration or in terms of the various characteristics of urolithiasis when stone-forming heterozygotes were compared to nonstone-forming heterozygotes. These data suggest that the tendency towards stone-forming among heterozygotes is probably owing to a complex and multifactorial mechanism.

Arginine↗
PubMed1985

GM1 gangliosidosis: clinical and laboratory findings in eight families.

GM1 Gangliosidosis is an autosomal recessive genetic disorder due to deficiency of the lysosome enzyme beta-galactosidase, with consequent tissue accumulation of glycolipids, oligosaccharides, and especially GM1 ganglioside. In the present paper we report the clinical and laboratory findings obtained for eight families starting from eight index cases exhibiting the childhood form of the disease. The total number of cases in these families may be as high as 14, thus causing GM1 gangliosidosis to be the inborn metabolic error most frequently diagnosed in our service. Hypotonia, neuromotor retardation, hepatosplenomegaly, macrocephaly, and hydrocele are some of the most frequent clinical findings. The disease evolves towards convulsions and bronchopneumonia, leading to patient death generally during the first half of the second year of life. The presence of vacuolated lymphocytes, alterations of the lumbar vertebrae, and cherry spots on the retina were observed in almost all patients. When tested for inborn metabolic errors, all patients gave normal results, a fact that may have confused and delayed diagnosis. Diagnosis was made by urine oligosaccharide chromatography and confirmed by beta-galactoside measurement in peripheral blood leukocytes. This method proved to be accurate also for the detection of heterozygotes, which permitted post-mortem diagnosis in two families. The authors speculate that increased fetal loss and tendency towards macrosomy may be possible characteristics of the disease, suggest that testing for vacuolated lymphocytes be used as a screening method, and propose that urine oligosaccharide chromatography be included in the routine screening for inborn metabolic errors.

Female↗
PubMed1984

Clinical and biochemical effects of long-term vitamin A administration to a patient with Hurler-Scheie compound.

Vitamin A decreased the urinary excretion of total mucopolysaccharides in a patient with Hurler-Scheie compound (type IH-S mucopolysaccharidosis). Vitamin A was administered orally in daily doses of 1,000 to 2,000 IU/kg body weight for 10 years. Adverse clinical responses such as irritability, bone pain, dizziness, vomiting and diarrhea appeared in the patient and were controlled by reduction of the dose administered. No clinical improvement was observed, although it is possible that the clinical course of the disease may have been retarded.

Adolescent↗
PubMed1981

Some observations on genetic factors in urolithiasis.

In an attempt to detect genetic factors linked with urolithiasis, a study based on medical and genetic data and on several biochemical procedures was done on 50 stone formers and on 50 controls. Genetic factors likely to be related to stone forming were found in 4 patients: 2 cases of incomplete renal tubular acidosis, and 2 cases of heterozygous cystinuria. A study of the families of 3 of these individuals revealed 4 additional cases of genetically determined metabolic diseases. Despite the small number of patients for whom genetic factors were determined and the fact that the lithiasis cases with and without family recurrence showed similar behavior with respect to the different biochemical parameters studied, the presence of genetic factors is suggested by the significantly more frequent family history of lithiasis found for stone formers than for the controls. Identifying the cases with family recurrence, in which stone formation occurs earlier and is more frequently recurrent, and the stone-forming patients with genetically determined metabolic disorders, which may benefit from specific measures, will probably contribute to a better prognosis for these patients.

Acidosis, Renal Tubular↗
PubMed1980

Metabolic factors in urolithiasis: a study in Brazil.

Clinical and biochemical data were obtained from 50 patients in whom stones form and 20 controls to set up and test a screening procedure for detecting metabolic abnormalities related to the formation of urinary calculi and to provide a preliminary estimate of the frequency of these disorders in our area. A comparison between patients in whom stones form and controls in terms of the quantitative biochemical parameters evaluated (serum calcium, uric acid and inorganic phosphate, and urine calcium, uric acid, inorganic phosphate, oxalic acid, xanthine and alpha-amino-nitrogen) showed a significant difference only with respect to excretion of urinary oxalate by adults, which was higher in patients in whom stones form. Metabolic disorders were detected in 15 adult patients with stones. Of these patients 9 had isolated hyperoxaluria, 3 had incomplete renal tubular acidosis, 1 had idiopathic hypercalciuria, 1 had heterozygous cystinuria and 1 had idiopathic hypercalciuria associated with heterozygous cystinuria. These results suggest a high frequency of metabolic abnormalities in patients in whom stones form in our area, so that the wider use of the screening used here may benefit a large number of patients with preventive and therapeutic measures.

Adolescent↗
PubMed1980

Genetic predisposition to febrile convulsions: a preliminary study.

The participation of genetic factors in the origin of convulsive disorders is a controversial matter. In an attempt to study the influence of heredity in a selected group of patients, we evaluated 128 subjects that presented febrile febrile convulsions. Of these, 18 (14,3% of the sample) had at least one relative affected by the same problem. Even though a more definite conclusion depends on sample enlargement and on setting up a control group, pedigree observation suggests the participation of an autosomal dominant gene, with incomplete and probably low penetrance, in the etiology of febrile convulsions.

Adolescent↗
PubMedDate not supplied

Pregnancy outcome after exposure to misoprostol in Brazil: a prospective, controlled study.

BACKGROUND: Misoprostol, a synthetic prostaglandin E1 analog is labeled for the treatment of gastric and duodenal ulcers. In Brazil, where abortion is not a legal procedure, there is a widespread popular misuse of this drug in abortion attempts. This misuse and the fact that, in many cases the desired pregnancy termination does not occur, raise concerns about fetal safety. Case reports of congenital anomalies after maternal use of misoprostol have been published. The objective of this work was to compare pregnancy outcome following misoprostol exposure with a matched control group. This is the first prospective controlled study on fetal safety after misoprostol use. METHODS: A prospective, observational cohort study with 86 exposed and 86 pair-matched, non-exposed controls. RESULTS: There was no significant difference in the rates of major or minor birth between exposed compared to non-exposed infants (2/67 vs 2/81, major defects; 7/67 vs. 3/81, minor anomalies) There were significantly more miscarriages in the exposed group (17.1% vs. 5.8%; relative risk, 2.97; 95% confidence interval, 1.12 to 7.88). There was no statistical difference in gestational age at delivery, birth weight, sex ratio, rate of prematurity, low birth weight, or rates of cesarean section between groups. CONCLUSIONS: Our study, despite its limited statistical power, does not suggest a potent teratogenic action of misoprostol exposure during pregnancy.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

Clinical and laboratorial study of 19 cases of mucopolysaccharidoses.

UNLABELLED: The mucopolysaccharidoses (MPS) are a heterogeneous group of inborn errors of lysosomal glycosaminoglycan (GAG) metabolism. The importance of this group of disorders among the inborn errors of metabolism led us to report 19 cases. METHOD: We performed clinical, radiological, and biochemical evaluations of the suspected patients, which allowed us to establish a definite diagnosis in 19 cases. RESULTS: Not all patients showed increased GAG levels in urine; enzyme assays should be performed in all cases with strong clinical suspicion. The diagnosis was made on average at the age of 48 months, and the 19 MPS cases, after a full clinical, radiological, and biochemical study, were classified as follows: Hurler - MPS I (1 case); Hunter - MPS II (2 cases); Sanfilippo - MPS III (2 cases); Morquio - MPS IV (4 cases); Maroteaux-Lamy - MPS VI (9 cases); and Sly - MPS VII (1 case). DISCUSSION: The high relative frequency of Maroteaux-Lamy disease contrasts with most reports in the literature and could express a population variability.

Adolescent↗
PubMedDate not supplied

[Organic aciduria: diagnosis in high-risk Brazilian patients]

OBJECTIVE: To determine the prevalence of organic acidurias in high-risk Brazilian patients. METHODS: Laboratory techniques for the detection and quantification of organic acids by gas chromatography/mass spectrometry were implemented in Porto Alegre, Brazil. We investigated 1,480 patients suspected of organic aciduria between January 1994 and June 2000. RESULTS: Seventy three (4.9%) cases of organic acidemias (acidurias) were diagnosed among the tested individuals. In most of these patients, prompt therapy resulted in rapid symptom improvement; these results are completely different from our previous cases diagnosed in other laboratories in Europe and the United States, where several patients died before any measures could be taken. CONCLUSIONS: These results demonstrate the importance of diagnosing organic acidurias in loco even in developing countries, in spite of the extra costs involved.

Journal Article↗
PubMedDate not supplied

[Transient neonatal tyrosinemia: a frequent abnormality]

OBJECTIVE: To evaluate the frequency of transient neonatal tyrosinemia, with or without secondary hyperphenylalaninemia,observed through neonatal screening for metabolic disorders, andthe need of monitoration and intervention with drugs and/or specialdiet in selected cases. METHODS: 457.870 dried blood samples obtained by heel stickfrom 3 to 20 days old babies were qualitatively evaluated by aminoacid thin-layer chromatography. Positive cases were quantitativelyconfirmed in serum samples by fluorimetric measurement of tyrosineand phenylalanine. RESULTS: 1.231 dried blood samples displayed positive resultsfor tyrosine in the cromatographic evaluation. The fluorimetricserum analysis disclosed normal levels of tyrosine and phenylalaninein 822 patients. The remained 409 patients showed hightyrosine levels and were placed in three groups according to thetyrosine concentration. In 118 of these cases serum phenylalaninewas also increased. CONCLUCIONS: Transient neonatal tyrosinemia is a very frequentdisorder in neonates (1/372); in some cases very high levels werefound, not only of tyrosine but also phenylalanine. As this findingis not yet accepted as absolutely harmless, the monitoration of thissituation and the use of measures to lower the tyrosine and phenylalaninelevels should be considered by the pediatrician.

Journal Article↗
PubMedDate not supplied

[Application of a clinical and laboratory protocol for the investigation of inborn errors of metabolism among critically ill children]

OBJECTIVE: The aim of this work was to evaluate a protocol for investigation of Inborn Errors of Metabolism (IEM) in children who are acutely ill.METHODS: Forty six children with clinical suspicion of a metabolic disorder were studied during 2 years. They were selected through request for investigation of IEM from Pediatrics or Neonatal Intensive Care Units located in the metropolitan area of Porto Alegre. Criteria for inclusion were presence of one or more of the following clinical alterations, without defined etiology: Metabolic acidosis, electrolyte disturbances, hypoglycemia, seizures, lethargy, liver disfunction, family history suggestive of IEM. The protocol included clinical evaluation, compulsory tests (performed in all patients) and optional tests (performed selectively according to the results from the first tests or through specific clinical hypothesis).RESULTS: Six cases of IEM were identified: galactosemia, non-ketotic hyperglycinaemia, propionic acidemia, isovaleric acidemia, 3-hydroxy-3-methylglutaric acidemia and deficiency of 3-ketothiolase deficiency.CONCLUSIONS: The frequency of organic acidurias in this group was 4/46 (8.7%), which justifies the inclusion of organic acids analysis among the first line exams in acutely and severely ill children with undefined etiology. The relatively high frequency of IEM (6/46 or 13%), which is comparable to the ones observed in other studies within high risk groups, indicates that the protocol suggested is efficient and justifies the systematic investigation of IEM in not explained critically ill children.

Journal Article↗
PubMedDate not supplied

[Management of a case of maple syrup urine disease--the use of gluco-insulinotherapy].

We report here the treatment and poor outcome of a case of Maple Syrup Urine Disease with late diagnosis and retrieval (2 and 5 months, respectively). As the proband had quite high levels of plasmatic leucine (1956 micromol/L for a normal upper limit of 77), we started immediately with a gluco-insulin therapy to produce anabolism in the infant. When leucine has fallen to 275.3 micromol/L, we instituted feeding with branched chain amino acid-free protein and high energy from carbohydrates. After reviewing briefly the clinical, biochemical and therapeutic aspects of this disorder, we comment on the great difficulties of making early diagnosis and of obtaining the specific dietetic formulas to Maple Syrup Urine Disease, in Brazil.

English Abstract↗