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Biomedical subjects

F Mollica

Publications and source records attributed to F Mollica.

At least 19 recordsLinked to original sources
PubMed1992

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 less than 0.001).

Administration, Oral↗
PubMed1991

Familial congenital brachial palsy.

Eight relatives in a Sicilian family, including a sibship of 5, were affected with severe unilateral congenital brachial palsy (CBP) in a pattern suggesting autosomal dominant inheritance with reduced penetrance (6 cases affected on the right, 2 on the left). X-linked inheritance with expression in heterozygous females cannot be excluded.

Arm↗
PubMed1991

Familial Jarcho-Levin syndrome.

Jarcho-Levin syndrome is a variety of autosomal recessive spondylocostal dysostosis characterized by severe deformity of the thoracic cage, leading to respiratory failure and early death. There are often associated dysmorphic features. The disease is more frequent in Puerto Ricans and rare in Europe. A Sicilian family with four affected individuals in two interrelated sibships is reported.

Abnormalities, Multiple↗
PubMed1991

Imaging of urinary tract malformations: intravenous urography and/or kidney ultrasonography?

We performed both kidney ultrasonography (KUS) and intravenous urography (IVU) in 56 children with urinary tract infections (UTI) to compare the effectiveness of these procedures in detecting urinary tract malformations (UTMs). In 7 patients where KUS findings were interpreted as normal, IVU detected the following UTMs: hydronephrosis (3), stenosis of the pelvi-ureteric junction (2), pelvi-ureteric duplication (1) and kidney dislocation (1). In 2 other patients, mild hydronephrosis diagnosed by KUS was not confirmed by IVU. With respect to IVU, KUS revealed a sensitivity of 77.4% and a specificity of 92%. In our experience, IVU is still irreplaceable in the diagnostic protocol of UTMs in children; KUS should be regarded as a useful complementary procedure.

Child↗
PubMed1991

Autosomal dominant atrial septal defect of ostium secundum type. Report of three families.

The authors report on three Sicilian families with 17 individuals (10 females and 7 males) in successive generations affected by atrial septal defect of ostium secundum type (S-ASD) without conduction defect. The anomaly was inherited as an autosomal dominant trait. Cytoplasmic inheritance could be excluded, the anomaly being transmitted also by fathers. Familial S-ASD is probably more frequent than commonly reported since cardiological examination of the relatives is not routinely performed in every case of apparently sporadic ASD.

Adult↗
PubMed1989

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

Congenital stationary night blindness is characterized 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.

Chromosome Mapping↗
PubMed1989

[10 families with benign familial hematuria. Considerations on prevalence, genetics and clinical and urine characteristics].

We studied 10 families in which 115 members showed isolated microscopic hematuria without nephritis and impairment of renal function. All the affected members were completely asymptomatic and normal on physical and laboratory examination and therefore diagnosis of benign familial hematuria (BFH) was made. In these families BFH was inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity. A linkage between BFH and ABO and Rh genes was excluded.

Adolescent↗
PubMed1979

Krabbe's disease with unusual clinical and morphological features.

A progressive encephalopathy appeared in two sibs aged 7 and 5 months. The children died at 23 respectively 29 months of age. Autopsy of the second child disclosed a severe demyelination involving the whole brain. Only few globoid cells were identified. Ultrastructural and biochemical investigations confirmed the diagnosis of Krabbe's disease.

Astrocytes↗
PubMed1979

Immuno-deficiency in Schwartz-Jampel syndrome.

Two sisters born in a consanguineous marriage and affected by Schwartz-Jampel syndrome had a complex immunodeficiency, involving not only the humoral but also the cellular immune response.

Abnormalities, Multiple↗
PubMed1979

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.

Carrier State↗
PubMed1979

Viral hepatitis B and Wiskott-Aldrich syndrome.

A 4-year-old boy affected by Wiskott-Aldrich syndrome had overt viral hepatitis B after repetitive blood transfusions. He was given immune serum containing HBs antibodies, with only transient improvement. The HBsAg titer decreased immediately after each administration of immune serum, but 2 days later it was higher than before. This effect could be explained by the presence of HBs antigen-HBs antibody complexes in the immune serum, not detected by the current testing procedure.

Child, Preschool↗
PubMed1978

Autosomal recessive postaxial polydactyly type A in a Sicilian family.

Postaxial polydactyly type A was present in several members of a Sicilian family. The anomaly was probably transmitted as an autosomal recessive character. Two polydactylous subjects were also beta-thalassaemia carriers, but a linkage between the two mutant genes could be excluded. Two patients with hexadactyly had a fifth digital triradius.

Adult↗
PubMed1978

Schwartz-Jampel syndrome in two daughters of first cousins.

The clinical and pathological features of two sisters born from consanguineous parents and affected by the rare Schwartz-Jampel syndrome are reported. The parental consanguinity of these two patients and the findings of electromyographic changes in the mother strongly support an autosomal recessive pattern of inheritance. No response of growth hormone secretion to arginine and insulin stimulation tests was found.

Abnormalities, Multiple↗