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Biomedical subjects

F Mollica

Publications and source records attributed to F Mollica.

At least 37 records · Page 2Linked to original sources
PubMed1995

Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive facio-skeleto-genital syndrome.

A Sicilian girl whose parents were first cousins had a severe tetramelic limb deficiency (amelia of lower limbs, peromelia of upper limbs) and other defects including cleft lip and palate, facial anomalies, athelia, low umbilicus, bladder exstrophy, no external genitalia, and anteriorly displaced anus. This probably represents a particularly severe case of Al Awadi/Raas-Rothschild syndrome (limb/pelvis-hypoplasia/aplasia syndrome, LPHAS), but the possibility of a new autosomal recessive facio-skeleto-genital syndrome cannot be excluded.

Abnormalities, Multiple↗
PubMed1995

Duration of hepatitis B antibody response in children immunised with hepatitis B and compulsory vaccines.

Twenty four subjects were simultaneously administered DT toxoids, OPV and HBV vaccines at the age of 3, 4-5 and 11 months and then followed up for 2 and 4 years in order to evaluate the duration of the immune response and the need and the timing of HBV revaccination. A fall in anti-HBs titre below 10 mIU/ml was observed at the follow up in 4/24 (16.7%) of the subjects. In other 5 children (20.8%) anti-HBs titre was found to be just above 10 mIU/ml. This would suggest that a revaccination is indicated and it could be performed at the age of 5-6 years when children enter school. This schedule is simple, effective and money saving since it reduces the cost/benefit ratio and the number of visits for immunisations, and it is expected to improve the compliance for the vaccination.

Child↗
PubMed1995

Tubule effects of glomerular hyperfiltration: an integrated view.

An increase in glomerular filtration rate (GFR) induces adaptive changes in tubular function to prevent the urinary loss of water and electrolytes. This is also true for acid-base balance: the increase in filtered bicarbonate load will stimulate H+ secretion at the level of several segments including the proximal tubule, the loop of Henle, and the distal tubule. There is an activation of both the luminal Na+/H+ exchanger and H(+)-ATPase, and basal-lateral Na(+)-HCO3- cotransport which allows an increase in luminal H+ secretion and basal lateral HCO3- exit. The stimulation of electrolyte reabsorption is very important at the level of the thick ascending limb of Henle, a segment that shows consistent hypertrophy in many models of hyperfiltration. Along this segment, increased Na+ and Cl- reabsorption has been found in rats receiving a high-protein diet. The ensuing reduced Na+ and Cl- concentrations, at the level of the macula densa, could weaken the signal responsible for initiating the tubuloglomerular feedback (TGF), thus allowing GFR to increase.

Adaptation, Physiological↗
PubMed1994

Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities.

To strengthen the evidence for genetic linkage to COL7A1, we have studied 26 generalised recessive dystrophic epidermolysis bullosa (EB) families of British, Italian, Irish, and South African origin. We chose two linkage markers, a COL7A1 PvuII intragenic polymorphism and a highly informative anonymous microsatellite marker, D3S1100, which maps close to the COL7A1 locus at 3p21.1-3. Diagnosis was established by family history, clinical examination, immunofluorescence, and ultrastructural studies. The PvuII marker was informative in 16 families with a maximum lod score (Zmax) of 3.51 at recombination fraction (theta) = 0. The D3S1100 microsatellite was informative in 24 out of 25 families with Zmax = 6.8 at theta = 0.05 (Z = 4.94 at theta = 0) and no obligatory recombination events. These data strongly suggest that COL7A1 mutations cause EB in these families and, combined with previous studies, indicate locus homogeneity. The importance of anchoring fibrils for dermal-epidermal adhesion is further underlined. D3S1100 may later prove useful in prenatal diagnosis of this disease, if used in combination with other markers.

Base Sequence↗
PubMed1993

Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis.

The acrofacial dysostoses (AFDs) are a heterogeneous group of disorders combining defects of craniofacial and limb development. The predominantly preaxial form is called Nager AFD, the predominantly postaxial form of AFD (POADS) is also known as the Genée-Wiedemann or Miller syndrome. The former appears to be about twice as common as the latter with well-documented autosomal dominant and recessive occurrences in both conditions. Only 1 AD occurrence of POADS is known, but 5 sets of sibs are suggestive of AR inheritance. Heterogeneity of apparently nonsyndromal AFD of both types is powerful support for the hypothesis that the AFDs are polytopic field defects arising during blastogenesis. Six other previously described forms of AFD include the AFD syndrome of Kelly et al. (AR), the Rodríguez or Madrid form of AFD (AR or XLR), the Reynolds or Idaho form of AFD (AD), the Arens or Tel Aviv type of AFD (AF?), the presumed AR AFD syndrome of Richieri-Costa et al., and the AD Patterson-Stevenson-Fontaine syndrome. Here we review the AFDs and report on a previously apparently undescribed autosomal or X-linked dominant form of AFD with mental retardation in a Sicilian mother and her 4 sons.

Adolescent↗
PubMed1993

Acute post-streptococcal glomerulonephritis in an 8-month-old girl.

We describe a middle class Sicilian girl who at 8 months of age suffered acute post-streptococcal glomerulonephritis documented by clinical hist a positive type 12 beta-haemolytic streptococcus throat culture, a raised anti-sterptolysin O titre and a low C3 rising to normal after 8 weeks

Acute Disease↗
PubMed1993

Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.

Hyperphenylalaninemia due to a deficiency of hepatic phenylalanine hydroxylase (PAH) is the most common inborn error of amino acid metabolism. Clinically, the disorder is highly heterogeneous, spanning from nonphenylketonuria hyperphenylalaninemia to classical phenylketonuria. Only little is known about the molecular defects underlying hyperphenylalaninemia in Southern Europe. In this study, we conducted a systematic analysis of 53 patients from the Sicilian population. Each patient included in the study had persistently elevated blood levels of phenylalanine and met the differential criteria for PAH deficiency. Genomic DNA was analysed by scanning all PAH-coding exons for mutations by PCR in combination with denaturing gradient gel electrophoresis (DGGE). 52 patients were completely genotyped. A spectrum of 40 different mutations was established including 17 novel PAH mutations. Our results explain the clinical heterogeneity of hyperphenylalaninemia in Southern Europe, and form the basis for the establishment of phenotype-genotype correlations in Sicily and surrounding countries.

Alleles↗
PubMed1993

Impaired antioxidant defense mechanisms in two children with hemolytic-uremic syndrome.

In the present study we have assayed antioxidant enzymatic activities of SOD, CAT, GSH-Px, GSH-Red, and G6PD in erythrocytes from two children with hemolytic-uremic syndrome (HUS) during the acute phase of the disease and after their recovery; in addition, we have tested the percentage of hemolysis after 24-h incubation in PBS containing glucose (1 g/1000 mL) or in the presence of their own plasma. Endogenous plasmatic MDA levels were also evaluated as lipid peroxidation marker. A significant decrease in SOD activity was found in erythrocytes from HUS patients, and the addition of their own plasma further decreased SOD activity. Elevated percentage of hemolysis was found in HUS patients when RBCs were incubated in their own plasma; this last effect was less evident in PBS + glucose.

Catalase↗
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↗