Florindo Mollica

Effectiveness of early prednisone treatment in preventing the development of nephropathy in anaphylactoid purpura.

A prospective study was performed to verify whether early administration of prednisone could be useful in preventing the development of nephropathy in anaphylactoid purpura. Only patients without signs of nephropathy upon initial presentation entered into the study. A total of 84 patients received delta-prednisone (1 mg/kg per day per os for 2 weeks), and 84 patients did not receive steroids. The patients were followed for 24–36 months. None of the 84 patients treated with steroids and 10 (11.9%) of the 84 control patients developed nephropathy 2–6 weeks after the acute episode. In 2 other patients of the untreated group, signs of renal involvement appeared 2 and 6 years after the acute episode respectively. The difference in the prevalence of nephropathy between the two groups is highly significant (P<0.001).

Treatment of Infantile Spasms with Sodium Dipropylacetic Acid

Eighteen infants with infantile spasms were given sodium dipropylacetate at a dosage of 20mg/kg/day. They were clinically examined before treatment, and again after one to three years of therapy. The short‐term clinical response was excellent in four patients, good in eight, poor in four and there was no change in two.

Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp.

SummaryCongenital stationary night blindness is characterized by disturbed or absent night vision that is always present at or shortly after birth and nonprogressive. The X-linked form of the disease (CSNBX; McKusick catalog no. 31050) differs from the autosomal types in that the former is frequently associated with myopia. X-chromosome-specific polymorphic DNA markers were used to carry out linkage analysis in three European families segregating for CSNBX. Close linkage without recombination was found between the disease locus and the anonymous locus DXS7, mapped to Xp11.3, assigning the mutation to the proximal short arm of the X chromosome. Linkage data obtained with markers flanking DXS7 provided further support for this localization of the gene locus. Thus, in addition to retinitis pigmentosa and Norrie disease, CSNBX represents the third well-known hereditary eye disease the locus of which is mapped on the proximal Xp and closely linked to DXS7.

A case of cyclopia Role of environmental factors

A woman who had viremia and was given various drugs early in pregnancy gave birth to a cyclops with a normal karyotype.

Hyporesponsiveness to intradermal administration of hepatitis B vaccine in insulin dependent diabetes mellitus

The immune response to intradermal or intramuscular hepatitis B vaccine in 18 children with insulin dependent diabetes mellitus (IDDM) compared with 24 healthy children was studied. Patients were divided into responders, hyporesponders, and non-responders according to their antihepatitis B serum concentrations after hepatitis B vaccination. We also studied HLA class II antigen distribution and did delayed type hypersensitivity (DTH) tests on children with IDDM and controls.  No difference in the immune response (antihepatitis B surface antigen antibody titres) was found with intramuscular administration, whereas with intradermal administration a statistically lower immune response (p < 0.001) was observed in children with IDDM vcontrols. This hyporesponsiveness cannot be attributed to HLA class II antigen distribution because their frequency was the same in both groups of children with IDDM.  It is suggested that the poor immune response to intradermal hepatitis B vaccine may be due to impaired macrophage activity resulting in failure of antigen presentation, which may be of importance in the immune dysfunction in children with IDDM. This hypothesis is suggested by a significantly lower score on a DTH test to a battery of antigens in the IDDM group when compared with controls. It is therefore suggested that when the hepatitis B vaccination is offered to children with IDDM it may be preferable to give it intramuscularly.

Autosomal dominant cataract and microcornea associated with myopia in a Sicilian family

A Sicilian family is reported in which 36 individuals, in 5 successive generations, were affected with congenital cataracts, microcornea and myopia with an autosomal pattern of inheritance.

PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population

SummaryThe results of the neonatal screening for phenylalanine hydroxylase (PAH) deficiency in Sicily show that its incidence is higher than previously reported for mainland Italians and that non-PKU HPA is in excess of classical and mild PKU. The latter finding suggests that a high number of non-PKU HPA mutations would occur in the Sicilian population compared to populations with an inverted PKU/non-PKU HPA ratio. Previous studies have identified 40 mutations accounting for the majority (98%) of mutant alleles underlying PAH deficiency in Sicily. In order to study the molecular basis of the distribution of PAH deficiency phenotypes in the Sicilian population, we have correlated 31 of those mutations with clinical and metabolic phenotypes in 12 mentally retarded patients, 14 treated patients with classic or mild PKU, and 13 subjects presenting the non-PKU HPA phenotype. The present study proposes a tentative classification for a large number (26) of PAH gene mutations which may represent an additional tool for establishing a differential diagnosis for PAH deficiency in the Sicilian population.

Hereditary twenty-nail dystrophy in a Sicilian family

Over three successive generations four members of a Sicilian family showed early onset, slowly progressive dystrophy of the finger and toe nails, without any other anomalies or skin signs. Histological examination performed in two patients enabled us to discount lichen planus and other underlying diseases. The hereditary and idiopathic nature of the disease is underlined and a classification of the dystrophies affecting all the 20 nails is proposed.

Familial centronuclear myopathy

A girl with typical clinical and histologic features of centronuclear myopathy (CNM) is described. The electromyogram was clearly of myopathic type; the motor conduction velocity was reduced. The analysis of the pedigree, in which three other members were similarly affected, suggests autosomal dominant inheritance with low penetrance.

A prospective study of 18 infants of chronic HBsAg mothers.

28 of 1002 pregnant Sicilian women (2.8%) were asymptomatic HBsAg chronic carriers. 18 children of these women were followed and at least 15 of them showed evidence of transplacental infection with HBsAg, resulting either from the presence of the antigen in cord blood, or from the development of the corresponding antibody in the serum within the first 2 months of life. Despite this, only 2 or 3 of the infants developed chronic antigenaemia from age 2--4 months. Only the infants whose mothers were HBeAb-negative, and who themselves remained HBsAb-negative during the first months of life, became HBsAg carriers. On the basis of these results, a strategy is suggested for selecting infants from areas with a high prevalence of HBsAg carriers so that they can be given passive immunisation with hyperimmune globulin.