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Biomedical subjects

I Antonozzi

Publications and source records attributed to I Antonozzi.

53 records · Page 3Linked to original sources
PubMed1983

Incidence of classic PKU in Italy estimated from consanguineous marriages and from neonatal screening.

As already described for cystic fibrosis and Friedreich ataxia, the incidence of PKU in Italy has been estimated by determining the increase of consanguineous marriages among 178 couples of PKU parents over the frequencies carefully established for the same marriages in the general Italian population for each of the 95 provinces during a 55-year period. The incidence estimated (between 1/15595 and 1/17815 according to two different formulas) is not very different from the incidence derived from screening programs (almost 1/12000). This indicates that the former method can be applied in Italy to the study of the incidence of other autosomal recessive disorders.

Consanguinity↗
PubMed1978

[Effects of the length of radioiodine treatment of hyperthyroidism on the distribution of blood levels of calcium and phosphorus as a function of sex and age].

An evaluation was made of the incidence of hypoparathyroidism after 131I management of hyperthyroidism and of the effect of irradiation on the relation between blood calcium, phosphorus and proteins and age in normal subjects. 356 treated patients and 216 controls were examined. Serum calcium was determined from 2 to 6 yr after treatment. It was found that calcium values decrease with age in males, wherease in women this phenomenon is less marked and, indeed, is no longer apparent over the age of 30. In the normal male, phosphrous also decreases with age, while in females there is a fall until the age of 30-40 yr, followed by a rise. Only 1 subject with a value of 8.45 mg calcium/100 ml was noted in the treated group and there was no significant difference between the means for the two groups, suggesting that parathyroid insufficiency is a virtually non-existent complication of the 131I treatment of hyperthyroidism. The relation between blood calcium and phosphorus and age in the treated group was examined with reference to subjects with normal thyroid function only. In the case of calcium, values were no longer related to age after treatment in males, while phosphorus values fell to below those observed in females, coupled with an increase in function of age as in women, though this itself was not statistically significant. Treatment also suppressed the relation between total blood proteins and age noted in the normal male. None of the parameters considered displayed any significant changes in the treated females. It would thus seem that 131I abolishes the differences in blood calcium and phosphorus mean values and age-linked patterns normally found between males and females.

Adult↗
PubMed1978

[Screening for aminoacidopathies in newborns by means of an aminoacid analyzer. Reference values and statistical determinations (author's transl)].

Plasmatic concentrations of amino acids valine, methionine, isoleucine, leucine, tyrosine and phenylalanine, in 4100 newborns of age varying between 1 and 18 days have been analyzed. The samples were randomly taken among the newborns of Lazio, Abruzzi and Molise subjected to neonatal screening for aminoacidopathies at the Centro delle Oligofrenie Dismetaboliche, Istituto di Neuropsichiatria Infantile. Average concentrations in mumoles/100 ml of the aminoacids and their correlations with weight and age have been studied. A comparison of the results of this research with the already published data is made, and the cut off points in mass screening for aminoacidopathies are calculated.

Amino Acid Metabolism, Inborn Errors↗
PubMedDate not supplied

Multiple neonatal screening for aminoacidopathies by ion exchange chromatography.

The experience gained in a pilot programme for multiple screening for amino acid disorders is reported. Over 222,000 newborn infants were screened by ion-exchange chromatography using dried blood spots. The acceptability, reliability and validity of the method are reported, and an outline is given, of the field evaluation of the method over 4 years, together with a short cost analysis. Incidences of the screened diseases and their differences from other reports are also discussed.

Amino Acid Metabolism, Inborn Errors↗
PubMedDate not supplied

Immunoreactive trypsin on dried-blood spots as a possible neonatal test for cystic fibrosis. (I. Evaluation of the method and preliminary field trial).

A method for blood spot immunoreactive trypsin (IRT) determination suitable for neonatal mass screening, and the preliminary steps towards its large-scale application are described. The method showed a highly significant correlation between blood spot and plasma values, and a study of plasma reference values in a population of 1,050 newborn infants demonstrated a log-normal distribution with a mean IRT concentration of 238.3 ng/ml. The results and their implications for neonatal mass screening are discussed.

Clinical Trials as Topic↗
PubMedDate not supplied

Neonatal screening in Italy for congenital hypothyroidism and metabolic disorders: hyperphenylalaninemia, maple syrup urine disease and homocystinuria.

A multiple screening program to establish the frequency of congenital hypothyroidism (CH), phenylketonuria (PKU), maple syrup urine disease (MSUD), homocystinuria and hypertyrosinemia in endemic and sporadic goitrous regions of Italy is being carried out. Valine, methionine, leucine, isoleucine, tyrosine and phenylalanine, eluted from a single spot and separated by column chromatography, are measured, using whole blood adsorbed on filter paper. CH is detected by RIA assay of TSH eluted from dried blood spot. A cut-off of 100 microU/ml for TSH is used providing a recall rate of 0.38%. Out of 116,000 newborn infants screened for aminoacidopathies (since 1974), 16 PKU patients, 3 affected by MSUD, 2 homocystinuric babies have been detected. Out of 25,400 newborn infants screened for CH, 5 patients were affected by permanent CH and 29 by transient hyperthyrotropinemia. Thus PKU shows a frequency of 1:7,200 newborn infants, and permanent congenital hypothyroidism 1:5,080. The coordination of screening programs for congenital metabolic diseases in a single central unit allows:--the unification of the input of samples and output of data in a single data bank;--a minimization of the physical and psychological stress to the patients and their families;--and a more satisfactory cost/benefit ratio.

Amino Acids↗
PubMedDate not supplied

The development of auditory and visual evoked potentials in early treated phenylketonuric children.

Brain-stem auditory evoked potentials (BAEPs) and flash visual evoked potentials (F-VEPs) were gathered from 8 early treated phenylketonuric (PKU) children in a prospective longitudinal investigation during the 1st to the 12th months after birth. No consistent differences were found in the wave morphology of evoked potentials in PKU children from that of age-matched controls. Studying the latency of some components showed that in BAEPs, wave I latency was similar to control values for the whole year, but that the I-V interpeak mean latency (I-V IPL) was always significantly longer than in controls. In F-VEPs wave N1 latency was significantly longer than in controls only at 1-2 months of age, but returned to control values at 3-4 months (when all children were on dietary therapy) and remained in this range up to the 12th month. The mean latency of the P2 wave of flash VEPs was always significantly longer in PKU children than in controls. These results show that relevant alterations in evoked potentials may be found in PKU children several months after starting dietary therapy. This suggests that information processing in the brain may be impaired for a long time, due to abnormal metabolic conditions between birth and the onset of dietary therapy.

Brain↗
PubMedDate not supplied

[Plasma levels of phenobarbital in epileptic children. Effect of combination with other anticonvulsants].

The effect of age on the steady state levels of phenobarbitone, alone and when given with phenytoin, sodium valproate and ethosuccimide has been measured in 1 361 children whose ages ranged from one month to 12 years. The relationship between dose and plasma level differed in those under 2 years from those aged between 2 years and 12 years. The addition of the other drugs altered the pharmacokinetics of phenobarbitone.

Age Factors↗