Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.

Programmed cell death (or apoptosis) is a physiological process essential to the normal development and homeostatic maintenance of the immune system. The Fas/Apo-1 receptor plays a crucial role in the regulation of apoptosis, as demonstrated by lymphoproliferation in MRL-lpr/lpr mice and by the recently described autoimmune lymphoproliferative syndrome (ALPS) in humans, both of which are due to mutations in the Fas gene. We describe a novel family with ALPS in which three affected siblings carry two distinct missense mutations on both the Fas gene alleles and show lack of Fas-induced apoptosis.

[Latex: an allergological emergency? An update and outlook].

Allergy to latex has become an increasing and clinically important problem during last years. Natural rubber latex (NRL) allergy has been acknowledged as a major occupation problem among health-care workers. More recently, NRL allergy also occurs in children with spina bifida and in atopic children.

[Evaluation of IGF1 and IGFBP3 during diet therapy in patients with food allergy with complex nutritional risk].

The seric levels of IGF1 and IGFBP3 and their molar ratio, together with clinical and auxological parameters, have been evaluated in 16 patients (8 males and 8 females), of average age of 11.6 +/- 8.66 months, who were suffering from complex food allergy and were subjected to a balanced diet will excluded the "offending" food.

[Congenital adrenal hypoplasia and hearing loss. A case report].

We report on the diagnostics, the therapeutics and the follow-up (to 3 years and 5 months) of a newborn affected by X-linked congenital adrenal hypoplasia. After the beginning of substitute hormonal therapy, the patient underwent periodical clinical examinations, with particular attention to the growth, and laboratory tests, which monitored the hormonal pattern. This experience points out the diagnostic role of low maternal levels of urinary estriol during pregnancy and the importance of a prolonged follow-up, so as to discover associated pathologies as early as possible.

Plasma levels of lipoproteins and apolipoproteins in congenital hypothyroidism: effects of L-thyroxine substitution therapy.

Thyroid status in humans is an important factor in the regulation of lipoprotein metabolism. There are several data on hypothyroidism in the adult population, but less information is available about congenital hypothyroidism. Since lipid metabolism at birth is substantially different from that of adults, it is not likely that the same abnormalities that occur in adult hypothyroidism are also present when this is diagnosed at early life.

Alpha interferon treatment of chronic hepatitis C in beta-thalassaemia.

In this open, pilot study, interferon (IFN) alpha-2b seemed effective in the treatment of hepatitis C virus (HCV) infection in patients with beta-thalassaemia. In seven of nine patients who completed the study alanine aminotransferase activities returned to normal, and a completely stable response 24 months after treatment was seen in five. Liver biopsy specimen showed a clear reduction in portal, periportal, and lobular necroinflammation in all five cases.

alpha-Interferon treatment of chronic hepatitis C in young patients with homozygous beta-thalassemia.

Background: Chronic infection with the hepatitis C virus (HCV) and iron overload are the main causes of chronic liver disease in subjects with homozygous beta-thalassemia (HBT). Iron overload can be counteracted by intensive chelation. alpha-interferon reduces viremia and necroinflammation in patients with chronic HCV hepatitis.

[The follow-up of malformation uropathies diagnosed "in utero"].

Prenatal diagnosis and postnatal follow-up of urinary tract congenital malformations are discussed. Among 9501 overall births, 25 newborns with urinary tract congenital malformations were born (2.6 x 1,000).

Spondylo-costal dysostosis in two siblings.

Two new cases of Spondylo-Costal Dysostosis (SCD) are reported in two siblings with strikingly similar skeletal abnormalities. Parental consanguinity documents in this family an autosomal recessive inheritance of trait. Clinical variability of SCD is discussed on the basis of clinical and radiological features.

[Recurrent wheezing in subjects with preceding bronchiolitis. Role of environmental and genetic factors].

We have been following for one year 39 patients, who had been hospitalized in our Institute for an episode of bronchiolitis in the period between November 1986 and April 1987. Only 30 patients (17 males and 13 females) have completed the follow up. The patients have been divided into two groups.

[Epidemiology of symptomatic infections of the urinary tract in the first two years of life].

The incidence of symptomatic Urinary Tract Infection (U.T.I.

[Is appearance of bronchiolitis affected by environmental and genetic factors?].

We have respectively studied 39 patients (22 males and 17 females) in an age below 18 months affected with bronchiolitis and hospitalized in the "Istituto di Pediatria B (Institute of Pediatrics B) of Palermo's University from november 1986 to april 1987. The parameters we have considered are: 1) the family predisposition to atopy; 2) the type of suckling; 3) the social and economical conditions pointed out the overcrowding index; 4) the every day consumption of cigarettes by the cohabitant relatives; 5) the total dosage of IgE. The data of the hospitalized patients have been compared with the ones pointed out in an "examination group" formed by 64 subjects (36 males and 28 females).