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Biomedical subjects

M Zaffaroni

Publications and source records attributed to M Zaffaroni.

At least 19 recordsLinked to original sources

Interleukin-2 receptor expression on blood monocytes of patients with multiple sclerosis.

We studied the expression of class II MHC product (HLA DR) and IL-2 receptor on circulating monocytes (M phi) in MS patients, neurological and healthy controls, by double color flow cytometry. In all groups most M phi were DR+ without significant differences. More interesting, low percentages of IL-2+ M phi were detectable in healthy and neurological controls, whilst a few MS patients with active disease showed higher levels. This finding is in agreement with similar studies in other T-cell mediated diseases and with the report of rare IL-2+ macrophages in MS plaques. Although the actual role of IL-2+ M phi in the immune response still needs elucidation, our findings suggest their relevance to the pathological process of demyelinating disease.

Adult

Motor potentials of inferior orbicularis oculi muscle to transcranial magnetic stimulation. Comparison with responses to electrical peripheral stimulation of facial nerve.

Magnetic stimulation at the vertex evoked a motor potential (MP) in the inferior orbicularis oculi muscle of 10 healthy subjects with an onset latency of 8-13 msec. Its amplitude increased and its latency decreased when the muscle was contracted: the latency measured 9.5 +/- 1.3 msec with an intensity of stimulation 10-15% above threshold in the contracted muscle. This MP is secondary to excitation of the motor cortex. With the coil placed over the occipital scalp and the same stimulation intensity, an MP was recorded with an onset latency at 4.5 +/- 0.6 msec. This response reflects the activation of the facial nerve root. The peripheral electrical stimulation of the facial nerve at the mandible angle elicited an MP with an onset latency at 3.5 +/- 0.4 msec. Most records showed the presence of late components at about 30 msec for all types of stimulation.

Adolescent

Perineal motor potentials to magnetic stimulation, pudendal evoked potentials and perineal reflex in women.

Motor potentials to transcranial and lumbar magnetic stimulation were recorded from the perineum in 14 healthy women. The response to transcranial stimulation presented an onset at 20.2 +/- 1.3 ms and a negative peak at 25.1 +/- 1.9 ms. Lumbar responses presented an onset at 5.1 +/- 0.8 ms, and the motor central conduction time measured 14.4 +/- 1.5 ms. Perineal reflex, cortical and lumbar pudendal evoked potentials were recorded after electrical stimulation of the labia minora. These tests are of possible clinical use in the evaluation of sphincter disturbances as they investigate the afferent and efferent pathways concerning pudendal nerve function.

Adult

CD4+ lymphocyte subsets in the cerebrospinal fluid of multiple sclerosis and non-inflammatory neurological diseases.

We studied paired cerebrospinal fluid (CSF) and peripheral blood (PB) samples from 18 inactive multiple sclerosis (MS) patients and 10 with non-inflammatory neurological diseases. By means of a dual-colour cytofluorimetric micromethod we were able to count 1500 cells on average in each CSF sample. We found a significant reduction of CD45RA+ and CD4+CD45RA+ cells in the CSF of MS patients. Similarly, CD45RA+ and CD4+CD45RA+ CSF/PB ratios were lower compared with controls. The reduction of suppressor-inducer T-cells did not correlate with CD8+ cell levels in the CSF. The CD4+ subset ratio (CD4+CD45RA-/CD4+CD45RA+) was significantly increased in the CSF of MS patients. Our data suggest that the reduction of CD4+CD45RA+ cells in the PB is not due to a segregation of such cells in the CSF. Conversely, CSF changes reflect changes in the PB similar to these found for other T-cell subsets.

Adult

Study of central and peripheral motor conduction in normal subjects.

Motor potentials to transcranial and cervical magnetic stimulation and F-wave were recorded in 37 arms of 25 normal subjects. Clockwise and anticlockwise cervical stimulation were performed over C5, C7 and T2 spinous processes. A significant correlation was found between height and measurements of central and peripheral motor conduction. Peripheral motor conduction measured by F-wave derived techniques (Kimura formula) was 0.5 msec higher as compared with responses to cervical magnetic stimulation. The site and current flow direction of cervical magnetic stimulation influenced the amplitude of responses but not their latency: responses were larger in the right arm when the centre of the coil was placed over the C5 spinous process and clockwise stimuli were used. The same results were obtained in the left arm when the coil was reversed.

Adolescent

Motor potentials of bulbocavernosus muscle after transcranial and lumbar magnetic stimulation: comparative study with bulbocavernosus reflex and pudendal evoked potentials.

Motor potentials of the bulbocavernosus muscle were recorded in 17 healthy subjects after transcranial and lumbar magnetic stimulation. The latencies (SD) were respectively: 22.9 (1.8) and 5.9 (0.4) ms. The central conduction time was 17.0 (2.5) ms. The bulbocavernosus reflex presented an onset at 34.5 (3.3) ms and a negative peak at 43.1 (3.9) ms. The cortical pudendal evoked potential was W shaped: the first peak had a latency of 35.4 (2.8) ms. The concurrent recording of motor potentials, bulbocavernosus reflex, pudendal evoked potentials gives a measure of peripheral and central, afferent and efferent neurological pathways related to pudendal nerve function.

Brain

Decrease of CD4+CD45+ T-cells in chronic-progressive multiple sclerosis.

Circulating lymphocyte subpopulations defined by anti-CD45 and other more common T-cell-specific monoclonal antibodies were analysed in 77 patients with multiple sclerosis and 38 healthy controls. A selective decrease of CD4+CD45+ cell percentages and absolute numbers in chronic-progressive patients was found; in 13 out of 26 patients this subpopulation was less than 11% CD4+CD45+ cells. Similarly, the whole CD45+ cell subset, as well as CD45+ cells expressed as percentages of CD4+ cells, were significantly reduced in chronic-progressive multiple sclerosis. CD4+CD45+ cells, commonly termed "inducer of suppression" T-lymphocytes, did not correlate with percentages or numbers of CD8+ cells. It is concluded that suppressor inducer T-cells act on the CD8+ subset function rather than reducing CD8+ cell numbers. Since CD4+CD45+ cells represent an early stage of lymphocyte maturation (naive T-cells), an under-representation of this subpopulation in active multiple sclerosis might reflect an increased conversion of naive cells into memory cells. This concept may be relevant for a better understanding of the disease pathogenesis.

Adult

Epilepsy in multiple sclerosis.

In a series of 2,353 multiple sclerosis (MS) patients, 40 subjects presented seizures, with an overall prevalence of 1.70%. The prevalence was 2.33% (34/1,459) in definite MS cases, 0.58 in probable cases (3/518), 0.79 in possible cases (3/376). Twenty-six patients were females, 14 were males. In 13 cases, epilepsy had begun before MS onset; in 4 patients, the two diseases started contemporarily; in 23 patients, epilepsy followed MS onset. No relationship was found between frequency of seizures and course of MS nor between frequency of seizures and MS severity. In 12 patients, magnetic resonance imaging was performed: plaques adjacent to the cerebral cortex were found in 3 cases. The electroencephalogram showed paroxysmal discharges in 11 patients (focal in 2, diffuse in 9). Slow theta and/or delta activity was found in 15 patients (focal in 7, diffuse in 6, both focal and diffuse in 2). The EEG was normal in 14 patients. Possible etiological factors other than MS were recognized in 4 patients only: cranial trauma in 3, meningitis in 1. Our study on a large MS population confirms that MS is associated to a risk for epilepsy higher than that of the general population.

Adolescent

[Thyroid hormones and the development of the nervous system].

The growth and differentiation of the central nervous system are closely related to the presence of iodine and thyroid hormones. During the first trimester of human pregnancy the development of the nervous system depends entirely on the availability of iodine; after 12 week of pregnancy it depends on the initial secretion of iodothyronine by the fetal thyroid gland. During the early stages of the development of the nervous system a thyroid hormone deficit may provoke alterations in the maturation of both noble nervous cells (cortical pyramidal cells, Purkinje cells) and glial cells. Hypothyroidism may lead to cellular hypoplasia and reduced dendritic ramification, gemmules and interneuronal connections. Experimental studies in hypothyroid rats have also shown alterations in the content and organization of neuronal intracytoplasmatic microtubules, the biochemical maturation of synaptosomes and the maturation of nuclear and cytoplasmatic T3 receptors. Excess thyroid hormones during the early stages of development may also cause permanent damage to the central nervous system. Hyperthyroidism may initially induce an acceleration of the maturation processes, including the migration and differentiation of cells, the extension of the dendritic processes and synaptogenesis. An excess of thyroid hormones therefore causes neuronal proliferation to end precociously leading to a reduction of the total number of gemmules. Experimental research and clinical studies have partially clarified the correlation between the maturation of the nervous system and thyroid function during the early stages of development; both a deficit and excess of thyroid hormones may lead to permanent anatomo-functional damage to the central nervous system.(ABSTRACT TRUNCATED AT 250 WORDS)

Brain

Two familial cases of Creutzfeldt-Jakob disease in Italy.

Two familial Italian cases of Creutzfeldt-Jakob disease are reported. Clinical picture and life history are presented and compared: 1) with the findings in familial cases reported in other countries, 2) with the findings (age at onset, disease duration) in sporadic Italian cases.

Adult

Multimodality evoked potentials in amyotrophic lateral sclerosis.

Visual, brainstem auditory and somatosensory evoked potentials to medial nerve stimulation were recorded in 27 patients affected by amyotrophic lateral sclerosis. VEP N75, P100, N140, N75-P100 latencies and P100 amplitude, BAEP I-III, III-V and I-V interpeak-latencies were within normal limits in all ALS patients. Somatosensory evoked potentials were abnormally delayed in 8 patients: in 3 arms because of a delayed N9-N13 latency, in 9 arms because of a delayed N13-N19 latency.

Adult

Thyroid and growth: thyroid hormones and development of the nervous system.

Growth and differentiation of nervous system are closely influenced by the presence of iodine and thyroid hormones during the first stages of development. The deficiency of thyroid hormones causes alterations of the maturation of the upper nervous cells (pyramidal cortical, Purkinje's cells) and of the glial cells with cell hypoplasia and reduction of dendritic branching, of synaptic spines and interneuronal connections. Experimental studies in hypothyroid rats evidenced impairments in the content and organization of intra-cytoplasmic microtubulin, in the biochemical maturation in synaptosomes and in the maturation of the nuclear and cytoplasmic receptors for T3.

Cell Differentiation

[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

[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