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Biomedical subjects

R Parini

Publications and source records attributed to R Parini.

At least 37 records · Page 2Linked to original sources
PubMed2000

Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression.

Silver-Russell syndrome (SRS) is characterized by a severe intrauterine and postnatal growth retardation, relative macrocephaly associated with 'mild' facial anomalies. The diagnostic importance of skeletal asymmetry remains controversial. The aetiology of the syndrome is heterogeneous. Maternal uniparental disomy of chromosome 7 (mUPD7) has been reported in approximately 7% of patients, but two carriers of chromosomal abnormalities involving the band 17q25 have also been described. We investigated a clinically selected sample of 20 SRS patients for the presence of mUPD7 using polymorphic microsatellite markers spanning the whole chromosome. Maternal UPD7 was found in only one patient corresponding to an incidence of 5%. The allelic distribution in this patient was consistent with heterodisomy. Segregation analysis of chromosome 14 and 16 showed a biparental contribution in all the 20 patients. Blood RNA from the mUPD7 patient and a normal donor were evaluated for the expression of Paternally Expressed Gene (PEG1), an imprinted gene on chromosome 7q32. Biallelic expression of the gene in adult blood tissues was found in both samples. Our results confirm the causal role of mUPD7 in a minority of SRS patients.

Abnormalities, Multiple↗
PubMed1999

Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.

Glycogen storage diseases type 1 (GSD 1) are a group of autosomal recessive disorders characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Mutations of the glucose-6-phosphatase gene are responsible for the most frequent form of GSD 1, the subtype 1a, while mutations of the glucose-6-phosphate transporter gene (G6PT) have recently been shown to cause the non 1a forms of GSD, namely the 1b and 1c subtypes. Here, we report on the analysis by single-stranded conformation polymorphism (SSCP) and/or DNA sequencing of the exons of the G6PT in 14 patients diagnosed either as affected by the GSD 1b or 1c subtypes. Mutations in the G6PT gene were found in all patients. Four of the detected mutations were novel mutations, while the others were previously described. Our results confirm that the GSD 1b and 1c forms are due to mutations in the same gene, i.e. the G6PT gene. We also show that the same kind of mutation can be associated or not with evident clinical complications such as neutrophil impairment. Since no correlation between the type and position of the mutation and the severity of the disease was found, other unknown factors may cause the expression of symptoms, such as neutropenia, which dramatically influence the severity of the disease.

Antiporters↗
PubMed1999

Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment.

The results of a medium-chain triglyceride loading test in a patient with severe carnitine-acylcarnitine translocase deficiency clearly demonstrated impaired in vivo utilization of medium-chain triglycerides. The loading test was performed at the ages of 7 and 36 months. The diet was adjusted accordingly. The clinical course has been favourable and the child is now in very good condition at age 4 years. We conclude that the utilization of medium-chain triglycerides is only partial in carnitine-acylcarnitine translocase deficiency and cannot reasonably be considered an optimal source of energy for these patients. Careful adjustment of dietetic treatment may help to improve prognosis.

3-Hydroxybutyric Acid↗
PubMed1997

Spherophakia associated with molybdenum cofactor deficiency.

Molybdenum cofactor deficiency is an autosomal recessive disorder characterized by lack of activity of the enzymes sulfite oxidase, aldehyde oxidase, and xanthine dehydrogenase or oxidase. The clinical manifestations are indistinguishable from those of isolated sulfite oxidase deficiency: craniofacial alterations, intractable neonatal convulsions, very severe mental retardation, lens dislocation, and death in the first decade of life. Lens dislocation is found in nearly all patients after neonatal age. In the present case it developed late (at the age of 8 years) and was preceded by bilateral spherophakia. We hypothesize that an abnormal relaxation of the zonular fibers is the cause of spherophakia in this disease; this causes lens dislocation eventually, after days, months, or years.

Child↗
PubMed1990

Determination of argininosuccinate lyase and arginase activities with an amino acid analyzer.

The measurement of argininosuccinate lyase (ASase) and arginase, both in liver and erythrocytes, was developed by using a commercial amino acid analyzer. The method is based upon the use of two different substrates, argininosuccinate and arginine for ASase and arginase, respectively, and the measurement of only one final metabolite: ornithine. The use of ornithine as a marker of biological activity of ASase is related to the fact that in the urea cycle, the specific activity of arginase is much higher than that of ASase; thus, during in vitro determinations, arginine, which is the product of ASase, is rapidly converted to ornithine. The sensitivity of the methods is very high since we were able to detect both activities using very diluted rat liver homogenates (0.10 mg protein/ml) or few microliters of human blood. In rat liver the Vmax for ASase and arginase were respectively 0.54 and 140 mumol/h/mg protein; the apparent Km values 1.25 and 13.5 mM. In human erythrocytes the Vmax for the same enzymes were 7.2 and 170 nmol/h/mg Hb and the apparent Km values were 0.66 and 9.5 mM. In 10 healthy volunteers the specific activity of ASase and arginase determined in blood were respectively 8.60 +/- 0.46 and 124.1 +/- 14.5 nmol/h/mg Hb. The results obtained from 2 patients suffering from argininosuccinic aciduria were also reported. In these latter cases while ASase was not detectable in blood, arginase activity was at the lowest end of the confidence limits determined in healthy volunteers.

Amino Acids↗
PubMed1985

Clinical pharmacology of netilmicin in preterm and term newborn infants.

Sixty-four neonates, with gestational age ranging from 27 1/2 to 40 weeks, postnatal age from 1 to 15 days, and birth weight from 800 to 3400 gm, were given netilmicin 2.5 mg/kg intramuscularly two or three times per day according to postnatal age, for 5 to 14 days. Serum concentrations were measured before and 1 hour after a dose at least twice during treatment. The serum washout profile of the drug was observed in 22 neonates after discontinuation of therapy. Renal function was studied in 37 infants by measuring serum creatinine concentrations and in 27 by urinary excretion of N-acetyl-glucosaminidase during and up to 15 days after therapy. Behavioral and impedance audiometry, and in infants failing those, auditory brainstem evoked response tests, were performed between 6 and 12 months of age. In 23.5% of the neonates, trough serum levels were greater than 3 micrograms/ml. The serum washout followed a multiexponential decay, accounting for distributional, rapid (initial), and slow (tissue) elimination phases. Linear regression analysis performed between each kinetic parameter and gestational age or birth weight showed that initial elimination half-life, steady-state volume of distribution, and total body clearance were significantly correlated with both variables. Netilmicin did not cause detectable renal or auditory damage.

Acetylglucosaminidase↗
PubMed1983

Monitoring of amikacin in the neonate.

The purpose of this study was to analyze the role of gestational and postnatal age and of clinical conditions [e.g., respiratory distress syndrome (RDS)] on serum concentrations of amikacin in neonates treated according to commonly recommended dose schedules. Thirty-nine neonates (28.5-42 weeks of gestational age) were treated with the aminoglycoside at a mean dose of 7.2 mg/kg every 12 h for an average period of 6.5 days, and serum levels were monitored throughout treatment. Both gestational and postnatal age influenced amikacin levels. During the first days of life the presence of RDS was found to be strongly associated with amikacin accumulation. Neonates with retarded intrauterine growth according to their gestational age tended to have lower amikacin trough levels in the first days of life. No correlation was found between amikacin serum levels and hematocrit. Peak concentrations of the drug did not correlate with vital or clinical data, probably because of the variability in drug absorption from the intramuscular injection site. These data are discussed in light of the development of renal function and changes in body fluid compartments occurring in the preterm and term neonates during the first weeks of life.

Age Factors↗
PubMed1982

Influence of intrauterine maturation on the pharmacokinetics of amikacin in the neonatal period.

The effect of intrauterine maturation on amikacin disposition was studied in 29 preterm and term neonates. Mean gestational age (weeks) of the patients was 34.5 +/- 3.3 S.D. and their birth weight 1.980 +/- 920 g. After the last administration of the drug, amikacin decay was measured in plasma and urine for 100-250 h. The serum concentration versus time profiles were fitted by nonlinear regression analysis. The parameters of a 2- or 3-compartment model with elimination from the central compartment were calculated. Initial elimination T 1/2, volume of the central compartment, and steady state volume of distribution were significantly related to intrauterine maturation (respectively r = -0.76; -0.63; -0.57) whereas no significant linear correlation was found between clearance and gestational age (r = 0.19). Patients with gestational age less than 34 wk had a significantly reduced clearance when compared with the neonates with gestational age greater than 36 wk (0.78 +/- 0.17 versus 1.0 +/- 0.4 ml/h/kg, P less than 0.05). The ratio between the volumes of distribution showed that a higher amount of amikacin penetrates the peripheral compartments with increased gestational age. The renal clearance calculated in six patients averaged 66% of the total body clearance, suggesting that elimination of the drug can occur in the neonate via nonrenal routes. Analysis of the long term urinary elimination of amikacin showed that about 5% of the total amount of the drug administered in 5-8 days of treatment is retained in the organism. Although quantitatively small, this amount is relevant for the potential nephrotoxicity of the drug.

Amikacin↗
PubMed1982

Evaluation of the renal and auditory function of neonates treated with amikacin.

35 neonates (mean gestational age: 34.9 +/- (SD) 3.5 weeks; mean birth weight: 2,180 +/- 890 g) treated with amikacin were examined for possible ototoxicity and nephrotoxicity. Audiometric tests were performed at 14.2-30.0 months postconceptional age by cross-checking behavioural with brain stem-evoked response audiometry. Only 1 infant was found with a mild hearing loss with brain stem audiometry, which, however, could not be attributed to amikacin with certainty. The effect of the aminoglycoside on the kidney was studied both by monitoring serum creatinine and the urinary elimination of the lysosomal enzyme N-acetylglucosaminidase (NAG). No significant difference was found in serum creatinine between the group under investigation and a control group of untreated premature neonates. A transient elevation was found in NAG urinary excretion in the neonates treated with amikacin. These results lead to the conclusion that amikacin at the recommended dosages (7.5 mg/kg every 12 h) causes a subclinical and reversible tubular damage in the neonate despite the high serum concentrations of the drug. The clinical relevance of this finding is discussed.

Acetylglucosaminidase↗
PubMed1981

Theophylline distribution in the premature neonate.

Theophylline (T) tissue distribution was studied in 11 premature newborns treated with T for prematurity apnea, who had died from severe pathology. To investigate the pattern of distribution of T, in particular the role of the blood-brain barrier in this period of life, two animal species were employed (rat and guinea pig), differing widely in their postnatal development. T was administered to the animals acutely and chronically and the resulting data were compared to human findings. In human prematures no specific accumulation and a wide variety in tissue concentrations, as in tissue/blood ratios, were observed. In the rat, unlike the guinea pig, brain/blood ratios of T concentration declined as postnatal age rose, suggesting that development of the blood-brain barrier plays a major role.

Aging↗
PubMed1981

Theophylline metabolism during the first month of life and development.

The metabolic pathway of theophylline (T) was studied in 12 newborns, one young infant, six children, and three adult volunteers. T was injected IV, and blood and urine samples were assayed for T, caffeine (C), and their metabolites by a high-pressure liquid chromatography technique. We confirmed the methylation of T to C in newborn infants but not in older subjects. Demethylation of T to 3-methylxanthine was found in the young infant, in children, and in adults, but not in newborns. The major products excreted by neonates were T, 1-methyluric acid, and 1,3-dimethyluric acid. Children excreted a larger fraction of methyluric acids than adults. Renal and body clearance of T and C are reported and discussed in relation to the age.

Adult↗
PubMed1980

Plasma glutamic acid levels in premature newborn.

24 premature, newborn infants were investigated for plasma glutamic acid (GA) levels before and after a normal milk feed, to ascertain if the ingestion of GA present in the milk could result in an increase of its plasma level. No increases were detected in plasma between 5 and 90 min after the feed. These results may be important in respect to the problem of the possible toxicity of monosodium glutamate (MSG) added to baby foods.

Animals↗