[Empty sella syndrome: a cause of GH deficiency?]. / Sindrome della empty sella: una causa di deficit di GH?

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. An appropriate evaluation of the endocrine system seems suitable in this condition, since ESS in childhood is not to be regarded only from neuroradiologic point of view.

[Results of a screening project for congenital hypothyroidism in 4 years of experience]. / Risultati di un progetto di screening per l'ipotiroidismo congenito in 4 anni di esperienza.

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). At december, 1981, 23.693 newborns have been screened. The recall rate was 2,5% up to may, 1980, and 0,11% from may, 1980 to december, 1981. Ten newborns with congenital hypothyroidism have been detected; the incidence is one in 2.400 live births. There were no cases of transient hypothyroidism and no cases of TBG deficiency. All patients are treated before the age of one month. The diagnosis is confirmed in seven cases at one year of life after stopterapy for one month. Our program confirm the high incidence of congenital hypothyroidism. Clinical control, based on physical and psychomotor development testing in seven patients treated confirmed that all infants are normal.

[Insulin and glucagon plasma levels in very low birth weight preterm infants of appropriate weight for gestational age]. / Livelli plasmatici di insulina e glucagone in neonati pretermine di peso molto basso appropriato per l'eta gestazionale.

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. METHODS: The authors examined 48 preterm AGA infants (mean birth weight 1 163+/-286 g, mean gestational age 28.2+/-2.4 weeks). The infant population was subdivided in relation to gestational age, weight, gender, mode of delivery and assisted ventilation at 5-7(th) days. Plasma glucose, insulin and glucagon levels were assessed in all newborns at birth and at 5-7(th) days of life. Data were analyzed using t-test. RESULTS: A negative correlation between insulin and gestational age was observed (P<0.05). At birth, no significant differences regarding plasma glucose, insulin and glucagon levels were observed as a function of the examined category variables. At the 5-7(th) days of life, insulin levels were significantly higher in newborns with gestational age =or<27 weeks (P<0.02), in the female gender (P<0.02) and in the infants born to emergency Cesarean delivery (P<0.05). CONCLUSIONS: These findings indicate potentially useful reference range values for plasma insulin and glucagon in the VLBW population.

[Plasma levels of lipids and apoprotein in a group of middle-school students 11-14 years of age: preliminary data]. / Livelli plasmatici di lipidi e apoproteine in un gruppo di studenti delle scuole medie inferiori di 11-14 anni: dati preliminari.

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). In the end we confirm the utility of determining plasma lipids and apoproteins to estimate lipidic risk for atherosclerosis in pediatric age.

[Correlations between RIA and ELISA methods in the determination of total IgE]. / Studio di correlazione tra metodo RIA e metodi ELISA nella determinazione delle IgE totali.

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.

[Glomerular filtration and renal volume in type II diabetes (non-insulin-dependent): study in normal and microalbuminuria patients]. / La filtrazione glomerulare ed il volume renale nel diabete tipo II (non-insulino dipendente): studio nei pazienti normo e microalbuminurici.

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. GFR was measured by a scintigraphy, after infusion of 99Tc-DTPA. Renal volume was determined by ultrasound scanning. Between the groups GFR and RV weren't different; elevated GFR was demonstrated in 3 patients; increased RV in 1 patient. In the hypertensive group GFR was lower than in normotensive group and in controls. Multivariate analysis in stepwise demonstrated that GFR presents a negative correlation to systolic blood pressure as in normo as in microalbuminuric patients. In the normotensive group GFR didn't correlate to the other variables. The present data suggest that in type 2 diabetes there is a little prevalence of glomerular hyperfiltration and increased renal volume and that hypertension plays a role on GFR of hypertensive diabetic patients.

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. the Fox-2 assay for plasma lipid hydroperoxides and the ferric reducing/antioxidant power (FRAP) assay for total antioxidant potential of plasma. These procedures were employed for the evaluation of oxidative stress in a group of patients with type 2 diabetes mellitus, a condition in which oxidative processes are implicated in the development of complications. In type 2 diabetic patients, plasma lipid hydroperoxides were directly correlated with levels of glycated hemoglobin. On the other hand, a significant inverse correlation was observed between levels of glycated hemoglobin and redox compensation values. The data reported suggest that the redox compensation index could represent a convenient parameter for the direct appraisal of oxidative status in clinical subjects, and are in support of the proposed role of protein glycation in production of oxidative alterations during type 2 diabetes mellitus.

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. Parents are not consanguineous and family history is negative for similar conditions. The diagnosis of type II tyrosinaemia was based upon an increase of blood tyrosine (14-16mg/100 ml), tyrosinuria and absence of liver and kidney abnormalities. The treatment with a low tyrosine phenylalanine diet has resulted in a disappearence of the ocular manifestations while the cutaneous lesions are much improved.

[Correlations between individual and familial variables in Turner's syndrome]. / Correlazione tra variabili individuali e familiari nella sindrome di Turner.

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. A significant frequency of short stature in mothers (25% below--2.0 S.D.S) has been observed, with a significant difference compared to the mean female stature of the general population. No significant difference has been observed on the stature of fathers. There was a closer correlation with mother's height (r = 0.65, p = 0.001) than with father's height (p = 0.07).

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. Neuraminidase activity is normal. The molecular basis of the sialic acid storage disease is not known. Evidence for defective transport of sialic acid across the lysosomal membrane has been demonstrated in the patient's fibroblasts. It is possible that this might represent the metabolic abnormality.

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. In the two groups of patients, these parameters did not differ significantly from those of controls, even when hypertensive subjects were excluded. Glomerular hyperfiltration was observed in 10 cases; all were normotensive (9.8%), of whom 7 were normoalbuminuric and 3 microalbuminuric. Nephromegaly was observed in 3 other normotensive microalbuminuric diabetic patients. Hypertensive subjects showed a lower GFR than normotensive patients and control subjects. Multivariate analysis showed a negative correlation between glomerular filtrate and systolic blood pressure (BP) in the overall population of patients and in normo- and microalbuminuric patients taken separately. It is concluded that the relationship between these variables forms a continuum in our type 2 diabetic patients; it may also be important in determining the low prevalence of hyperfiltration and nephromegaly found in our patients, who had BP levels higher than those of controls.