Increase with age in the prevalence of beta-thalassemia trait among Sicilians.
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Adolescent↗
Biomedical subjects
F Mollica
Publications and source records attributed to F Mollica.
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↗
[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↗
Prenatal diagnosis of thalassemia: the viewpoint of patients.
Twenty-eight young people with thalassemia major expressed their opinion about prenatal diagnosis. All of them stated that they intended to marry and have children; thirteen of them (46 per cent) said that they would have also accepted a thalassemic carrier as a partner and that if married to a carrier they would have undergone prenatal diagnosis and selective abortion. All but one refused the prospect of an affected child. When asked if they would have preferred that before their birth their parents had undergone prenatal diagnosis and abortion, 19 patients (68 per cent) gave an affirmative answer. These results clearly indicate that even people affected by thalassemia major, who are the potential victims of prenatal diagnosis and selective abortion, largely accept prenatal diagnosis as a means of preventing their disease.
Abortion, Induced↗
Wolfram's syndrome and HLA.
A Sicilian family with three siblings affected by Wolfram's syndrome (Ws) is reported. HLA typing was performed in eight individuals from this family through three generations. Two of the three patients were HLA DR2 positive. The results suggest that the gene for Ws is not linked to the HLA region on chromosome 6, but located on some other chromosome, and that the allele HLA DR2 might predispose to the mutation responsible for Ws.
Adolescent↗
Dextrocardia with and without situs viscerum inversus in two sibs.
We described two sibs born to consanguineous Sicilian parents who died of severe congenital heart malformation. Both had dextrocardia; however, only the girl had situs viscerum inversus. At necropsy she was found to have a right spleen and right pulmonary isomerism (three lobes in each lung, as commonly found in the asplenia syndrome). This observation, together with other literature reports, suggest that isolated dextrocardia, situs viscerum inversus, and the asplenia-polysplenia complex may be different end results of a unique dysmorphogenetic process involving the embryonic midline.
Abnormalities, Multiple↗
Superoxide dismutase activity and reduced glutathione content in cataractous lens of patients with glucose-6-phosphate dehydrogenase deficiency.
In the present research we have assayed the glucose-6-phosphate dehydrogenase, superoxide dismutase activities and reduced glutathione content in human cataractous lenses of 83 Sicilian subjects. Five of 45 males were G6PD deficient, whereas eight of 38 females showed a significant reduction in G6PD by 50%. The five males hemizygous for G6PD defect showed undetectable G6PD activity and low GSH levels in their lenses when compared to cataractous patients without erythrocyte G6PD deficiency; on the contrary, the specific activity of lenticular total SOD was found to be significantly increased. The G6PD and SOD activities as well as GSH levels, in the lenses of eight females with intermediate erythrocyte G6PD levels, were not significantly different when compared to females with normal erythrocyte G6PD activity.
Aged↗
Familial optic atrophy with sex-influenced severity. A new variety of autosomal-dominant optic atrophy?
A family is described with 20 members in three successive generations affected by optic atrophy without other ocular or extraocular manifestations. The anomaly was transmitted as an autosomal-dominant character. There was a clearly bimodal distribution of severity: 4 male patients complained of severe impairment of vision since childhood while 16 other subjects (7 males and 9 females) were completely asymptomatic. This family could be an example of a new variety of autosomal dominant optic atrophy characterized by sex-influenced severity.
Adolescent↗
Autosomal dominant cone-rod dystrophy associated with sickle-cell trait in a Sicilian family.
Three Sicilian siblings had a typical cone-rod dystrophy. The same ocular anomaly was probably present in their mother and in the maternal grandmother. The three probands were also carriers of Hb S, but this last anomaly was also present in an unaffected brother. It is concluded that the cone-rod dystrophy of this family is inherited as an autosomal dominant character and that its association with sickle-cell trait is coincidental.
Adolescent↗
Acrofacial dysostosis of Nager and ocular abnormalities.
Acrofacial dysostosis of Nager is a little known hereditary syndrome in which the findings of mandibulofacial dysostosis are associated with defects of the limbs. The present case showed other abnormalities including the Stilling-Turk-Duane syndrome, conductive deafness and ptosis of the transverse colon.
Abnormalities, Multiple↗
Serum IgE in newborns undergoing exchange transfusion.
Serum IgE was studied in a group of 20 newborns, ten males and ten females, with neonatal non-immunologic jaundice before and after exchange transfusion and in a control group without jaundice or other immunologic problems. Serum IgE was significantly higher in the study group than in the control group (P less than .005). After exchange transfusion there was a further increase (P less than .005). These changes do not seem to be due to the IgE content of the transfused blood. It is suggested that neonatal jaundice and/or exchange transfusion may stimulate the IgE synthesis in the newborn.
Exchange Transfusion, Whole Blood↗
Infantile spasms syndrome in monozygotic twins. A 7-year follow-up.
The Infantile Spasms Syndrome is a fairly common form of seizures in infancy. Many papers and several books have been published on this syndrome but several aspects are still obscure. In particular, there is some controversy about anticonvulsant treatments and on the question of improvements in mental status. An unusual case of 2 monozygotic twins with by this syndrome, both with clinical manifestations appearing within a few hours on the same day, at 6 months has been followed up for 7 years, giving us the opportunity to understand some aspects of the clinical course of the disease and long term treatment.
Adrenocorticotropic Hormone↗
Twins with acardia and anencephaly.
The authors describe a pair of twins, one of whom showed acardia while the other had severe neural tube defect including anencephaly. This is the first observation of a fetal malformation (anencephaly) in the cotwin of an acardius and confirms the fact that even the cotwin of an acardiac fetus may be at risk of severe congenital malformations.
Anencephaly↗
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.
Cataract↗
Glucose-6-phosphate dehydrogenase deficiency and incidence of cataract in Sicily.
The incidence of G6PD deficiency in red blood cells of 241 Sicilian cataractous patients (138 males and 103 females) and in the lens of 32 subjects (15 males and 17 females) of the same group was evaluated. The incidence of G6PD deficiency was significantly higher than expected (p less than 0.001), both in RBCs and in lens. The results suggest that G6PD deficiency is a risk factor for cataract both in hemizygous males and heterozygous females.
Adult↗
New syndrome: exostoses, anetodermia, brachydactyly.
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Abnormalities, Multiple↗