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Biomedical subjects

G Bona

Publications and source records attributed to G Bona.

178 records · Page 10Linked to original sources
PubMedDate not supplied

[Thyroid function in children with Down's syndrome].

The aim of the present study was to evaluate thyroid function in 45 Down's syndrome patients in order to verify the hypothesis of an increased risk of thyroid disorders associated with trisomy 21. A patient with subclinical hypothyroidism (TSH 16.6 microU/ml; T4 6.4 micrograms/dl) was diagnosed in a group of 28 subjects with Down's syndrome studied at a mean age of 6 years and 5 months using T3, T4, FT3, FT4, TSH assays and clinical examination. T4 and TSH values were also measured in 10 of these children at the neonatal screening. One infant presented transient neonatal hyperthyrotropinemia but later became euthyroid. The analysis of thyroid hormone values at the neonatal screening of other 17 subjects with Down's syndrome did not reveal other cases with thyroid function disorders. The results of this study highlight that altered thyroid functions are evident in children with trisomy 21 associated with heart anomalies. A careful clinico-endocrinological follow-up of patients with Down's syndrome is recommended in order to ensure an early diagnosis of thyroid function disorders and/or autoimmune diseases which might complicate the evolution of trisomy and negatively affect outcome.

Adolescent↗
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↗
PubMedDate not supplied

[Magnetic resonance in the study of patients of short stature of the hypothalamo-hypophyseal origin. Report on 29 cases].

Although growth hormone (GH) deficiency is a very common cause of short stature, many cases are still diagnosed as idiopathic. Magnetic Resonance Imaging (MRI), more clearly than CT, reveals the anatomy of the hypothalamic-hypophyseal region and of the possible alterations (pituitary hypoplasia, interruption of the stalk) causing hormonal deficit. Twenty-nine patients with short stature underwent MRI examinations of the hypothalamic-pituitary region to assess the significance of the correlation between hormonal test and MR patterns. Five patients had normal variants of short stature (NVSS), 7 had multiple pituitary hormone defects (MPHD) and 17 had isolated growth hormone deficiency (IGHD). In patients with MPHD or with severe isolated growth hormone deficit MRI shows interruption of the pituitary stalk with ectopy of the neurohypophysis or a mass. In patients with less severe IGHD and in NVSS, MRI demonstrates a normal pituitary region or a slightly hypoplastic gland, the neurohypophysis being normally situated. MRI may provide an ethiological classification in short stature patients. Typical MR patterns can be demonstrated in cases of dwarfism secondary to a mass in the hypothalamic-pituitary region or to morphological changes of the pituitary stalk, while in transient GH deficit no anatomical abnormalities are observed.

Adolescent↗