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M R Gallina

Publications and source records attributed to M R Gallina.

14 recordsLinked to original sources
PubMed1994

[Transient changes in thyroid function in the neonatal period].

Transient neonatal hypothyroidism (TH) is a state biochemically characterized by altered TSH and T4 values at screening and subsequently confirmed by serum analysis. TH can go or not go along with clinical manifestations of hypothyroidism and evolves to the normalization of the thyroid functional capacity independently of substitutive therapy. In addition to the complete TH the application of screening programs for congenital hypothyroidism has enable to acknowledge partial changes of the thyroid functional capacity in the neonatal age characterized by isolated anomalies of the individual hormonal parameters. Since the incidence of neonatal TH in Italy is remarkably high (the forms of complete TH being not less than 20% of the hypothyroidism cases diagnosed at the screening) we want to provide an overview of the latest acquisitions regarding TH. Finally the indications for treatment of the various forms of TH, a still controversial matter, are considered, in consideration of the primary role played by thyroid hormones on the development of central nervous system in the perinatal age.

Congenital Hypothyroidism↗
PubMed1994

Growth hormone, insulin-like growth factor-I and somatostatin in human fetus, newborn, mother plasma and amniotic fluid.

During pregnancy, organism development and its differentiation are stimulated and modulated by fetal and placental hormones. However the exact role played by all the different growth factors has not been explained yet. This study summarizes knowledge about secretion, regulation and role of GH, IGF-1 and SRIF during perinatal age. It also reports the results of researches into GH, IGF-1 and SRIF in amniotic fluid, in mothers and in newborns at delivery and at four days of age. Amniotic fluid GH levels proved significantly higher during middle pregnancy that at delivery (p < 0.001); a significant difference was also found between mean GH concentrations observed in amniotic fluid collected at delivery in preterm and full-term pregnancies. In amniotic fluid, significant reductions of SRIF and IGF-1 concentrations correspond to a sudden decrease of GH concentration during the last months of pregnancy. Fetal serum GH levels resulted higher than venous cordonal GH concentration at birth (p < 0.001). High levels of IGF-1 were found in the amniotic fluid and in the maternal plasma. These values were higher than those observed in cord blood during pregnancy or at delivery. Preterm and full-term newborns showed similar serum GH levels at birth and at the age of 4 days. Mean GH values in newborns, both at birth and at the age of 4 days, proved to be significantly higher than the values of their mothers (p < 0.001).(ABSTRACT TRUNCATED AT 250 WORDS)

Amniotic Fluid↗
PubMed1989

[Usefulness of protein C in the early diagnosis of acute infection in newborn infants at risk].

The serum concentration of protein C reactive (PCR) in preterm and term children was assessed on the first, fifth, eighth and fifteenth day of life. The data obtained show that in all cases characterised by PCR values higher than 10 mg/l on the first day of life a serious infectious pathology was present which required antibiotic treatment, monitored by subsequent PCR samplings. In all cases in which PCR was negative on the first day of life and in later samples, none had presented infectious pathologies. Analysis of the results showed that so-called borderline values (greater than 2 mg/l less than 10 mg/l) were present in some newborns at risk for the development of infectious pathologies. These children were subjected to antibiotic therapy as prophylaxis and in subsequent samples PCR became totally negative.

Acute Disease↗
PubMed1989

[Defects of thyroid hormone synthesis: nosographic study and proposal for a protocol for differential diagnosis].

In addition to the forms of congenital hypothyroidism caused by dysgenesis of the thyroid gland (agenesia, ectopy), this phenomenon may be caused by enzyme deficiencies of the thyroid hormone synthetic process. These defects, which are hereditary and transmitted as recessive autosomic characters, are clinically manifest in homozygotic subjects in the form of goitres which appears during the neonatal age or, as in more common, during later infancy. At present, mass neonatal screening allows this phenomenon to be diagnosed during the first days of life. The diagnosis of hypothyroidism caused by enzyme deficiency is made on the basis of radioisotopic and ultrasonic studies, and by the assay of plasma levels of thyroglobulin. The exact definition of the specific enzyme activity which is lacking in each case is more complex and has still to be resolved. This study describes the biochemical and pathogenetic characteristics of the different thyroid hormone synthesis defects and includes the findings of previously published diagnosis tests in order to identify the missing enzymatic activity. Lastly, a protocol for the differential diagnosis of the various types of defect is outlined. A specific etiological definition of the altered thyroid metabolism, while providing further insight into the physiopathology of the thyroid and the epidemiology of enzymatic hormone synthesis defects, should not be a motive for delaying the start of substitutive therapy at the earliest possible stage.

Child↗
PubMed1989

[The collodion baby. Nosographic assessment and description of 2 clinical cases].

Newborns with clinically evident forms of congenital ichthyosis are generally classified as "collodion babies" in view of the particular appearance of their skin that looks rather like a membrane of dried cellophane. This is an extremely rare clinical picture that may be the expression of various types of ichthyosis. The present paper describes two cases of collodion baby with a report on the latest discoveries about the physiopathology of the condition and the current classification of its congenital forms.

Female↗
PubMedDate not supplied

Effects of iopamidol on neonatal thyroid function.

The effects of Iopamidol on neonatal thyroid function have been investigated. Since the basic molecule is non-ionic, thyroid function is not damaged, even when large quantities of contrast media are employed.

Female↗
PubMedDate not supplied

Thyroid autoimmunity: really an important cause of sporadic congenital hypothyroidism?

The transplacental transfer of maternal antithyroid antibodies has recently been hypothesised as an aetiological factor in CH. In order to test this hypothesis, mothers and newborns identified by neonatal screening as suffering from hypothyroidism were tested for TgAb, MAb and TSHBAb. Significant titres of MAb and TgAb antibodies were found in 5% of the newborns and their mothers. TSHBAb was found in 1 out of 18 newborns and 1 out of 14 mothers. A causal link was found between the transplacental transfer of IgG inhibiting thyroid growth and function induced by TSH from a mother with Hashimoto's thyroiditis a newborn with CH and in her CH newborn. However the present series did not reveal the high percentage of cases with CH and thyroid antibodies reported by others and particularly not among the neonates born to mothers without any kind of maternal thyroid pathology. It therefore seems that the role of autoimmunity in the pathogenesis of CH and TH is yet to be clarified.

Autoantibodies↗
PubMedDate not supplied

Prenatal diagnosis of heterozygosis in a pregnancy at risk for Wolman's disease at the 8th week of gestation.

Wolman's disease is a rare autosomal recessive disease due to lysosomal acid lipase complete deficiency (McKusick 27.800). Prenatal diagnosis is based on safe chorionic villus sampling procedures. We test acid lipase activity in cultured chorionic villus cells, selected from a biopsy performed during the 8th week of pregnancy. We now report the first prenatal diagnosis of heterozygosity for Wolman's disease during the first trimester of pregnancy. Reduced acid lipase activity was shown in the chorionic villi cells using a natural substrate (Cholesterol 14C oleate). The diagnosis was confirmed by the demonstration of reduced acid lipase activity in cultured amniotic cells and in the newborn lymphocytes. Early prenatal diagnosis in pregnancies at risk for lysosomal storage diseases is possible when enzyme activity levels in chorionic villi are similar to those in cultured amniotic cells and in infant cells.

Chorionic Villi↗
PubMedDate not supplied

A case of acid lipase deficiency: Wolman's disease.

We report a case of Wolman disease, an unusual autosomal recessive disease characterized by storage of lipid in histiocytes. Storage of cholesteryl esters and triglycerides is caused by lysosomal acid lipase deficiency. This enzyme hydrolyses the cholesteryl esters of LDL thus allowing their peripherical metabolism. Onset of the disease occurs after the first month of life with hepatosplenomegaly, diarrhea, vomiting, abdominal distension, failure to thrive. Diagnosis, suspected because of calcifications of the adrenals was achieved by demonstration of lysosomal acid lipase deficiency in lymphocytes and cultured skin fibroblasts. Carriers of the disease can be identified by enzyme assays in lymphocytes and fibroblasts and prenatal diagnosis can be accomplished by lysosomal acid lipase assays in cultured amniotic fluid cells and chorionic villi.

Adrenal Gland Diseases↗