Effects of immunotherapy on motor cortex excitability in Stiff Person Syndrome.

A number of cortical and spinal excitability variables have been tested in a patient with Stiff Person Syndrome (SPS), before and after immunotherapy with mycophenolate mofetil, intravenous immunoglobulin and corticosteroids, which normalized plasma levels of anti-GAD antibodies and dramatically improved the clinical picture. The overlapping time-course of neurophysiological, clinical and bio-umoral findings suggests that immunotherapy might have changed GABA/Glutamate balance at cortical level, favoring the former, as reflected by normalization of the startle reflex, lengthening of the cortical silent period and clear-cut reduction of intracortical facilitation to paired-pulse transcranial magnetic stimulation. This represents the first report investigating effects of immunotherapy on cortical excitability in SPS.

[Insulin and glucagon plasma levels in very low birth weight preterm infants of appropriate weight for gestational age].

Objectives: Prematurity is a known risk factor for hypoglycaemia, hyperglycemia, neonatal sepsis and other common neonatal complications, possibly associated with glucoregolatory hormone (insulin and glucagon) alterations. Insulin and glucagon levels change also in relation to gender, mode of delivery and postnatal clinical severity. Because of the lack of reference range in literature, the aim of this study is to assess plasma insulin and glucagon levels in preterm appropriate for gestational age (AGA) infants of birth weight <1500 g (very low birth weight, VLBW) as a function of gestation, birth weight, gender and mode delivery.

Determination of a redox compensation index and its relationships to glycaemic control in type 2 diabetes mellitus.

The measurement of single parameters of oxidative stress in biological fluids can often give results difficult to interpret as to the real involvement of oxidative processes in a given disease condition. In the present study we propose a novel integrated parameter, called "redox compensation index", obtained by combining the results of two established and convenient procedures, i.e.

Prevalence of glomerular hyperfiltration and nephromegaly in normo- and microalbuminuric type 2 diabetic patients.

Glomerular hyperfiltration, correlated with nephromegaly, is a frequent finding in type 1 (insulin-dependent) diabetes. In type 2 (non-insulin-dependent) diabetes, very few studies have been performed, and the results have been inconclusive. Glomerular filtration rate (GFR) and kidney volume, using 99mTc-DTPA scintigraphy and ultrasonography, respectively, were evaluated in 58 control subjects and 163 type 2 diabetic patients; 79 of whom were normoalbuminuric and 84 microalbuminuric.

[Plasma levels of lipids and apoprotein in a group of middle-school students 11-14 years of age: preliminary data].

Plasma lipids and apoprotein A and B levels were measured in 63 children, of both sexes, in the age range 11-14 years. The children have been subjected to a blood drawing after a 12 hour fast at least. Statistical analysis proves that total cholesterol (TC) is positively correlated with triglycerides (TG), HDL cholesterol (HDL) with apolipoproteins A (Apo A), apolipoproteins A (Apo A) with apoproteins B (Apo B).

[Glomerular filtration and renal volume in type II diabetes (non-insulin-dependent): study in normal and microalbuminuria patients].

In type 2 diabetes elevated glomerular filtration rate (GFR) and increased renal volume (RV), often accompanied to normo or microalbuminuria, were demonstrated. This condition is considered a pathogenetic factor for clinical nephropathy. As this topic is little studied in type 2 diabetes, we have investigated 73 type 2 diabetic patients (34 normo and 39 microalbuminuric), looking for a correlation between GFR, RV, hypertension, duration of diabetes and indexes of metabolic control.

[Correlations between individual and familial variables in Turner's syndrome].

In 20 cases of Turner's syndrome (10 with complete X monosomy, 10 with partial X monosomy or mosaicism) aged 3.47 to 15.5 years, the stature of the individual cases and their parents were evaluated.

Free sialic acid storage disease. A new Italian case.

Increased amounts of free sialic acid were found in cultured fibroblasts and urine of a 4-year-7-month-old Italian boy with mental retardation, hypotonia, failure to thrive, coarse facial features, convergent strabismus, pale skin and fair hair. Ultramicroscopic examination of conjunctival and skin tissues showed a number of membrane-bound vacuoles containing low-density granular material in the cytoplasm of the fibroblasts. The clinical, biochemical and ultrastructural findings are similar to those described in Salla disease.

[Correlations between RIA and ELISA methods in the determination of total IgE].

Two ELISA methods for total IgE determination are examined comparatively to the PRIST method. The microELISA methods showed a high sensibility comparable to that of the PRIST in the range of normal values.

[Results of a screening project for congenital hypothyroidism in 4 years of experience].

A screening program for congenital hypothyroidism has been starting in Siena since November, 1977 with the Guthrie's test for PKU. According to the recommendations of the Committee of the European Thyroid Association the program were performed on capillary blood samples collected between the fourth and sixth days after birth on an adsorbent paper. The screening began with the measurement of T4 RIA (up to May, 1980), and T4 and TSH RIA (from may, 1980, to december, 1981).

[Empty sella syndrome: a cause of GH deficiency?].

A deficiency of growth hormone (GH) was detected in a male child with "empty sella syndrome" (ESS). Association between ESS and defeciences of pituitary hormones has been previously reported in adult subjects. It seems likely that GH deficiency is be related to ESS in the case described in this paper.

Familial tyrosinaemia with eye and skin lesions. Presentation of two cases.

Two cases of tyrosinaemia with eye and skin lesions typical of the Richner-Hanhart syndrome are described. The patients are a 29- and 26-year-old brother and sister. They do not show neurological abnormalities or mental retardation.