Biomedical subjects
Publications and source records attributed to M Zaffaroni.
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.
In this retrospective study we evaluated the efficacy and functional benefits of chronic intrathecal baclofen infusion in severe spinal spasticity. Twenty patients with a diagnosis of severe intractable spinal spasticity were evaluated prior to implantation of a programmable pump for chronic intrathecal baclofen therapy and at follow up, which ranged from 12 to 36 months (mean 22.4 months). The mean age of the patients was 39.1 years. The prevailing pathology was multiple sclerosis. All were unable to walk. Patient assessment was based on the Ashworth Scale, the Spasms Frequency Scale, self-reported pain and Functional Independence Measure (FIM) scores. The Wilcoxon test was used for statistical analysis. A statistically significant decrease in muscle tone, spasms and pain was observed in all the patients. The Ashworth score decreased from 4.4 to 1.8, the spasms frequency score from 2.5 to 0.5 and the self-reported pain score from 5.5 to 2.3. The FIM score also showed a statistically significant change (increasing from a mean of 33.8 to 58.7). Two patients in employment were able to return to work. No severe side effects were observed. Chronic intrathecal baclofen infusion was seen to produce a functional improvement in patients with severe spinal spasticity, particularly as regards bathing, comfortable wheelchair sitting and mobility.
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.
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.
OBJECTIVES: To record the prevalence of the sleeping position of sucklings living in the ASL 11-Regione Piemonte; to make an information campaign about the utility of sleeping in the supine position (most important protection factor against the SIDS); to find out its efficacy for a short or long time. METHODS: During the first two months of 2002 all the parents coming to the consulting rooms for the compulsory vaccinations of their 3 and 5 months old babies have been interviewed about the position of their babies during sleep. The same recording has been made in the first two months of 2003 and 2004. During 2002 various consciousness campaigns have been made, above all for medical operators of hospital nurseries and of Mother-and-Child Departments and Prevention Departments in ASL 11 area. RESULTS: Before the consciousness campaign the percentage of 3 months old sucklings sleeping in the supine position was 62,3% and 55% for the 5 months old suckings; after the campaign the percentage has grown to 77,4% for 3 months old sucklings and 74,5% for 5 months old sucklings during 2003 and during 2004 the percentage has grown to 80,3% and 74,2%, respectively. CONCLUSIONS: A simple and not expensive but capillary consciousness and information campaign addressed to medical operators has obtained valid and statistically relevant results in a short time.
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.
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.
We followed-up 30 patients with definite multiple sclerosis (MS) for one year recording monthly: clinical evolution, neurological examination and T-lymphocyte subsets in peripheral blood recognized by monoclonal antibodies. Although clinical relapses could not be strictly associated with lymphocyte abnormalities in all cases, the parallel clinical-immunological survey permitted to correlate significantly the type of clinical course (chronic-progressive, relapsing, stable) with a correspondent immunological pattern (steadily high, transiently high, steadily normal CD4/CD8 ratios respectively). Our results suggest a possible role of serial lymphocyte subsets analysis in defining evolution of MS.
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Serial visual, brainstem auditory and somatosensory evoked potentials have been recorded in 36 MS patients. The follow-up lasted 18 months. A correlation among neurophysiological modifications and clinical status of the tested pathways was inconstantly found. At the end of the study responses at the three modalities worsened in a higher percentage of progressive patients with respect to stable ones (in 41% instead of 11% of cases). Final latencies were more delayed in progressive that in stable cases.
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Electrophysiological tests (visual and somatosensory evoked potentials, flicker fusion test) and electrophoretic examination of cerebrospinal fluid were performed in 17 patients who previously suffered from one or more attacks of optic neuritis. The association of the tests revealed the demyelinating inflammatory pathogenesis in eight cases. In the remaining nine cases the CSF oligoclonal pattern was absent. The evidence that a bilateral delayed VEP, suggesting a subclinical contralateral involvement of optic pathways, could be related to multiple sclerosis, is discussed. A case was finally ascertained as being affected by Leber's optic atrophy.
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