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Biomedical subjects

G Romeo

Publications and source records attributed to G Romeo.

At least 271 records · Page 15Linked to original sources
PubMed1986

Kinetic analysis of chloride efflux from normal and cystic fibrosis fibroblasts.

Chloride permeability in 9 cystic fibrosis- and 11 normal-skin fibroblast lines has been investigated. Chloride efflux, under steady-state conditions, involves two intracellular compartments characterized by slow- and fast-rate constants of efflux. We show here that the fast rate constant in cystic fibrosis cells is reduced by 25% in comparison with controls. The data presented support recent studies indicating that isolated sweat glands and respiratory epithelia of patients suffering from cystic fibrosis have an unusual low permeability to chloride ions compared to control epithelia. It is concluded that variation in chloride transport can successfully be studied in cultured fibroblasts, which are not directly involved in the pathology of the disease.

4,4'-Diisothiocyanostilbene-2,2'-Disulfonic Acid↗
PubMed1986

Rett syndrome: lack of association with fragile site Xp22 and strategy for genetic mapping of X-linked new mutations.

The hypothesis of X-linked new mutations which might cause early abortions of hemizygous male fetuses and a dominant phenotype in heterozygous females seems the most likely genetic explanation of the Rett syndrome. This hypothesis can be reconciled with the normal sex ratio observed in sibships of patients and with the rare recurrence of this disorder in sibs or half-sibs. The latter observation can be explained by germinal mosaicism in one of the two parents. Since in 14 patients no association was found with any particular fragile site or chromosome rearrangement, we propose to map the mutated gene (or loci) on the X through a strategy based on the reconstruction of X-linked haplotypes consisting of DNA polymorphisms, and on the identification of possible crossovers in affected sisters.

Cell Line↗
PubMed1986

Mapping through somatic cell hybrids and cDNA probes of protein C to chromosome 2, factor X to chromosome 13, and alpha 1-acid glycoprotein to chromosome 9.

The previously unassigned gene coding for the anti-coagulatory protein C has been mapped on chromosome 2 using a cDNA probe and genomic blots from a human-hamster somatic cell hybrid panel. The assignments of the genes coding for the coagulation factor X to chromosome 13, and for alpha 1-acid glycoprotein to chromosome 9 have been confirmed using a similar direct approach.

Animals↗
PubMed1986

Origin of new mutations in Duchenne muscular dystrophy.

Nine unrelated pedigrees in which Duchenne muscular dystrophy (DMD) was not present in more than one sibship were studied, using 6 DNA polymorphisms closely linked to the DMD gene. The reconstruction of grandparental haplotypes indicates the occurrence of at least three new mutations, two in grandpaternal chromosomes and one in a grandmaternal chromosome. Two additional (but less well documented) new mutations might have occurred respectively in a grandfather's and in a grandmother's chromosome, the latter being represented by a deletion mutation. The new mutations detected in this study therefore add to a total of either three or five out of nine apparently independent mutations present in pedigrees without recurrence of the disorder.

DNA↗
PubMed1986

Segregation analysis of migraine in 128 families.

To test the existence of inherited liability to migraine, formal segregation analysis of family data collected from 128 patients has been performed. Patients were subdivided into three groups in accordance with the presence or absence of migraine in their parents. The results obtained in each group were then compared with those expected on the basis of two different modes of simple Mendelian inheritance, namely autosomal dominant and autosomal recessive transmission. Our data show that neither of the two hypotheses can be accepted, thus suggesting the existence of a possible genetic heterogeneity of liability to migraine.

Analysis of Variance↗
PubMed1986

2',5'-Oligoadenylate synthetase-uninducible alpha/beta-interferon-resistant Friend cells develop an antiviral state when permeabilized with lysolecithin and treated with 2',5'-oligoadenylate oligomers.

Variant sublines of Friend erythroleukemia cells (FLC) that do not respond to alpha/beta-interferon (IFN-alpha/beta) by developing an antiviral state but respond partially to IFN-gamma with an induced antiviral state, lack the ability to induce the 2',5'-oligoadenylate (2-5A) synthetase pathway. Exposure of wild-type and variant cells to exogenous 2-5A oligomers made permeable with lysolecithin resulted in 50-70% inhibition of protein synthesis. Further, the replication of vesicular stomatitis virus in IFN-resistant 2-5A synthetase-deficient FLC exposed to 2-5A trimer was inhibited to the same extent as in wild-type cells. Last, a significant cleavage of ribosomal RNA was observed in samples of total RNAs extracted from variant and wild-type permeabilized FLC, but only if they were exposed to 2-5A. These data are compatible with the conclusion that (i) the activation of the 2-5A-dependent endoribonuclease is not impaired in the variant cells, and (ii) the uninducibility of 2-5A synthetase can be bypassed by exogenously introducing its products, which leads to the establishment of a bona fide antiviral state.

2',5'-Oligoadenylate Synthetase↗
PubMed1986

Homogeneity of cystic fibrosis in Italy.

In 12 unrelated Italian cystic fibrosis (CF) families the frequencies of four DNA polymorphisms closely linked to the CF gene on chromosome 7 were quite similar to those reported for other population samples. Among the 23 affected children from the 12 families, only one recombinant occurred between the CF gene and the met locus, thus confirming the hypothesis of genetic homogeneity of CF previously suggested by the analysis of consanguineous marriages among 624 couples of CF parents. Chi-square test of association indicates a possible linkage disequilibrium between the CF gene and the DNA polymorphism that is most informative in our sample (pmetH TaqI).

Cystic Fibrosis↗
PubMed1986

Long term results of high selective vagotomy: a 12-year experience.

The long term results (6 to 12 years) of high selective vagotomy are reported. The study includes 470 patients operated electively for uncomplicated duodenal ulcer. The indications for surgery were: persistence of ulcer after medical treatment; recurrent ulcer after repeated treatments with antacids and/or H2 blockers; noncompliance of the patients with the medical treatment for various reasons. The procedure was performed following the technique described by Goligher with minor modifications. Subsequently, a personal technique of intraoperative transesophageal gastric pHmetry was applied for the control of the completeness of vagotomy. The clinical results were classified according to Visick grading. It is concluded that the absence of mortality, the negligible postoperative morbidity, the clinical and functional results make high selective vagotomy the best treatment for uncomplicated duodenal ulcer.

Duodenal Ulcer↗
PubMed1985

Establishment of the antiviral state in alpha, beta-interferon-resistant Friend cells treated with gamma-interferon. Induction of 67-kilodalton protein kinase activity in absence of detectable 2-5A synthetase.

Treatment with murine gamma-interferon (IFN) preparations of variant sublines of Friend leukemia cells resistant to the alpha, beta IFN-induced antiviral state (Affabris, E., Jemma, C., and Rossi, G.B. (1982) Virology 120, 441-452; Affabris, E., Romeo, G., Belardelli, F., Jemma, C., Mechti, N., Gresser, I., and Rossi, G. B. (1983) Virology 125, 508-512) results in the establishment of a bona fide antiviral state. In fact, gamma IFN preparations are able to induce a dose-dependent reduction of endogenous virus release and of vesicular stomatitis or encephalomyocarditis viruses yields (up to 1.5 log). Under these experimental conditions, no inducible 2-5A synthetase activity is detectable in cell extracts. The 67-kDa protein kinase, uninducible by treatment with alpha, beta IFN (up to 13,000 units/ml), is instead induced upon treatment with gamma IFN at a similar rate of activity as in wild-type Friend leukemia cells, both when assayed in solution and after immobilization on poly(rI) X poly(rC)-agarose.

2',5'-Oligoadenylate Synthetase↗
PubMed1985

Frequency of consanguineous marriages among parents and grandparents of Down patients.

The existence of a rare autosomal gene which in the homozygous state would cause mitotic nondisjunction in the Down zygote has been hypothesized in the past by Alfi et al. (1980). This hypothesis can be supported or contradicted by the study of the frequency of consanguineous marriages among parents of affected children. Our study on 242 children affected with Down syndrome does not show any increase in the frequency of consanguineous marriages among their parents with respect to the general population, and therefore does not support the hypothesis of an autosomal gene controlling mitotic nondisjunction. Our data do not show any increase in the frequency of consanguineous marriages even among paternal and maternal grandparents of the affected children, thus not supporting the other possible explanation of an autosomal recessive condition in one of the patient's parents which would cause meiotic nondisjunction.

Adolescent↗