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Biomedical subjects

G Pepe

Publications and source records attributed to G Pepe.

At least 145 records · Page 8Linked to original sources
PubMed1985

[Current trends in the diagnosis and therapy of anal pruritus. Review of 238 cases].

Perianal pruritus may be caused by a variety of factors. Of these, the most frequently occurring are proctological, infections, dermatological, dietary, and systemic. The results of a study carried out on 238 patients from 1980 to 1984 are reported. The survey was carried out with the aim of defining the frequency of pruritus in relation to the triggering cause, to sex and to age. It is emphasised that diagnosis is often difficult and requires the measurement of the following parameters: blood glucose levels, blood, nitrogen levels, ESR, haemochrome, hepatic functions, in addition to a gynaecological examination, analysis of faeces, proctocolonoscopy, skin biopsy and other tests. These are carried out to determine whether anal pruritus is a symptom of a systemic disease, or whether it is brought about by local causes. Treatment measures adopted are reported. Treatment is mainly symptomatic and aetiological for cases caused by local disturbances.

Administration, Topical↗
PubMed1985

[Experience with hepatic hydatidosis. Review of 100 cases].

201 cases of hydatid cysts observed in 1964-1984 are analysed. This is followed by a report on 100 cases of hepatic cysts with details of the patients' sex, age, symptoms and occupation. Finally the surgical treatment adopted in response to the site and dimensions of the cysts is described in detail.

Adult↗
PubMed1985

Crohn's disease of the esophagus. A case report.

A case of Crohn's disease localized in the inferior third of the esophagus with negative radiological evidence, positive endoscopic evidence, and aspecific signs of esophageal wall inflammation is reported. Evaluation of clinical remission of dysphagia and endoscopic features of the esophageal lesions following steroid therapy led to the diagnosis of Crohn's disease of the esophagus in the patient already operated on for a colonic localization. Data from literature are examined with emphasis on the difficulty of the diagnosis.

Adult↗
PubMed1985

A clinical and epidemiological study on eclampsia in the obstetrics and gynecology department of Catania in the years 1978-1983.

From January 1978 to July 1983 22 patients have recovered from eclampsia in the Obstetrics and Gynecology Department - Vitt. Emanuele II Hospital - Catania University. 64% of the patients had hypertension in pregnancy combined with edema in 92.85% of the cases (13 cases) and with proteinuria in 18% of the cases (4 cases). Eclampsia manifested itself before labour in 28.57% (6 cases), during labour in 19.05% (4 cases), in postpartum in 19.05% (4 cases) and in the successive three days after delivery in 33.33% (7 cases). Perinatal death rate was 11.28% and in all the cases it was due to intrauterine fetal death. In 22 patients treated there was a case of acute pulmonary edema and a case of maternal death.

Adolescent↗
PubMed1984

[Epidemiologic-statistical data on chest injuries: review of 181 cases].

The Authors report their casuistry about thoracic traumata (181 cases), they had the opportunity to observe from 1972 up to 1983. They illustrate the most interesting epidemiologic data, such as sex and average age of patients, causes of trauma, hurted anatomic formations of thorax, association with traumata in a different place. At last, as a conclusion, they remark the exitus occurred in 5.5% of thoracic traumata.

Adolescent↗
PubMed1983

Analysis of the 3' end of the human pro-alpha 2(I) collagen gene. Utilization of multiple polyadenylation sites in cultured fibroblasts.

Three overlapping genomic clones covering 28 kilobases of the human pro-alpha 2(I) collagen gene have been isolated from a lambda phage library. The analysis of 12 introns and 12 exons in the 3' end region has shown that the human gene has a structure remarkably similar to that reported for the homologous chicken gene. One large intron, in the alpha-chain domain, contains an AluI sequence flanked by short direct repeats; a second AluI sequence is present 4 kilobases downstream from the termination codon. The analysis of the exon coding for the 3'-untranslated region has revealed that the pro-alpha 2(I) collagen gene transcribes at least four different mRNAs in cultured fibroblasts. The colinearity and exact location of the termini of these transcripts was determined by Northern blots, R-looping analysis, S1 protection, and DNA sequencing. The ends of two transcripts are closely preceded by the canonical polyadenylation signal (AAUAAA), whereas two of its variations (AUUAAA and AUUAA) precede the ends of the other two transcripts.

Base Sequence↗
PubMed1983

Non-random patterns of nucleotide substitutions and codon strategy in the mammalian mitochondrial genes coding for identified and unidentified reading frames.

The base sequence of large part of the mitochondrial DNA of Wistar rats is presented. The sequence is compared with those of other mammalian mitochondrial DNAs. The nucleotide and amino acid homologies, codon strategy, nature and patterns of substitutions are reported. It results a very high amount of silent substitutions and, in short divergence time, a predominance of transitions on transversions. In both types of substitutions a strong bias in avoiding the use of the G in the third codon position is observed.

ATP Synthetase Complexes↗
PubMed1983

The quantitative expression of delta and beta human globin genes is controlled by both 5' and 3' untranslated regions.

The basis for the wide difference in the amounts of haemoglobins A and A2 found in normal human blood is not yet known. By analysing existing data on the levels of haemoglobins Lepore, anti-Lepore, and the recently discovered haemoglobin Parchman, resulting from a double cross-over within the delta-beta region, it is shown that regulation of the expression of these genes must take place at sites located within both their 5' and 3' untranslated regions.

Gene Expression Regulation↗
PubMed1982

The nucleotide sequences of several tRNA genes from rat mitochondria: common features and relatedness to homologous species.

We have determined the nucleotide sequences of thirteen rat mt tRNA genes. The features of the primary and secondary structures of these tRNAs show that those for Gln, Ser, and f-Met resemble, while those for Lys, Cys, and Trp depart strikingly from the universal type. The remainder are slightly abnormal. Among many mammalian mt DNA sequences, those of mt tRNA genes are highly conserved, thus suggesting for those genes an additional, perhaps regulatory, function. A simple evolutionary relationship between the tRNAs of animal mitochondria and those of eukaryotic cytoplasm, of lower eukaryotic mitochondria or of prokaryotes, is not evident owing to the extreme divergence of the tRNA sequences in the two groups. However, a slightly higher homology does exist between a few animal mt tRNAs and those from prokaryotes or from lower eukaryotic mitochondria.

Animals↗
PubMed1982

RNA processing errors in patients with beta-thalassemia.

We have developed a method that permits rapid identification of the consequences of mutations that alter beta-globin RNA processing in erythroid cells. S1 nuclease mapping techniques were used to analyze total bone marrow RNA obtained fron 15 patients who are clinically homozygous for beta-thalassemia and from 5 patients with erythroid hyperplasia from other causes. This analysis was facilitated by the use of single-stranded uniformly labeled DNA probes of high specific activity that were prepared by using recombinant phage M13-beta-globin DNA templates. Two abnormalities of RNA processing were found to occur with high frequency in these patients. Nine thalassemic patients were found to have increased levels of an RNA species that retains all sequences transcribed from intervening sequence 1, implying the presence of mutations that decrease the correct splicing of this intron. Seven of 15 thalassemic patients were found to have an abnormally processed RNA species that retains 19 nucleotides transcribed from the 3' end of intron 1; this abnormality is caused by the G leads to A substitution in intron 1 that is known to create an alternative splice acceptor site.

Base Sequence↗
PubMed1982

Molecular defects in beta-thalassemia.

Our studies have shown that globin-gene structure, as revealed by Southern blot analysis, is normal in most patients who are homozygous for beta-thalassemia. In many, but not all patients, evidence for mutations which alter the metabolism of beta-globin RNA molecules was obtained by several methods of analysis. The most specific and sensitive of these involves the use of single-stranded, highly radioactive probes generated using the M13 cloning system. Such probes allow detection of aberrantly processed RNA molecules by S1 nuclease analysis, thereby providing clues as to the position and nature of mutations within individual thalassemic globin genes. Of greatest potential interest are those genes which provide no evidence, in bone marrow RNA, of aberrantly processed intermediates. Analysis of these genes by molecular cloning and DNA sequencing may lead to identification of sequences which are important for initiation or termination of RNA transcription. Mutations which cause beta-thalassemia continue to provide a rich source of information about the nature of DNA sequences which are essential for efficient gene expression. By study of thalassemic patients, new insights are obtained into normal mRNA metabolism.

Base Sequence↗
PubMed1982

The pattern of thalassemia in Naples.

1. The expected number of patients with Cooley anemia in Naples, as predicted from heterozygote frequencies, is about 300 which is more than that found from hospital statistics. 2. Considering the presence of at least two beta-thalassemic alleles and the coexistence of a significant incidence of the Lepore gene in the population of the area surrounding Naples (the maximum incidence is thought to be in the neighboring province of Caserta), there are at least 6 different genotypes (3 true homozygotes and 3 genetic compounds) that can give rise to clinically important thalassemia syndromes, ranging from thalassemia intermedia to classic Cooley anemia. 3. Since an alpha-thalassemic gene is also present at polymorphic frequency in this population, this gene may coexist by random assortment in subjects who also have a beta-thalassemia syndrome, thus accounting for part of the variability of globin gene expression. 4. It is remarkable that 2 brothers homozygous for Hb Lepore present differences in the non-alpha/alpha ratio. The clinical differences could be explained by the gamma/alpha mRNA ratio close to 1 in one of them.

Child↗
PubMed1981

The nucleotide sequence of the large ribosomal RNA gene and the adjacent tRNA genes from rat mitochondria.

We have sequenced the Eco R(1) fragment D from rat mitochondrial DNA. It contains one third of the tRNA (Val) gene (the remaining part has been sequenced from the 3' end of the Eco R(1) fragment A) the complete gene for the large mt 16S rRNA, the tRNA (Leu) gene and the 5' end of an unidentified reading frame. The mt gene for the large rRNA from rat has been aligned with the homologous genes from mouse and human using graphic computer programs. Hypervariable regions at the center of the molecule and highly conserved regions toward the 3' end have been detected. The mt gene for tRNA Leu is of the conventional type and its primary structure is highly conserved among mammals. The mt gene for tRNA(Val) shows characteristics similar to those of other mt tRNA genes but the degree of homology is lower. Comparative studies confirm that AGA and AGG are read as stop codons in mammalian mitochondria.

Animals↗