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Biomedical subjects

F Bernardi

Publications and source records attributed to F Bernardi.

At least 289 records · Page 16Linked to original sources
PubMed1980

DNA rearrangements in a hybrid plasmid carrying the redB imm region of coliphage lambda.

The hybrid plasmid consisting of pSC101 and the redB--N--imm region of phage lambda cI857 persists in cells grown at 30 degrees C but not in cells grown at 37 degrees C. In the latter case the plasmid was found to undergo several modifications. Restriction maps of these new plasmids indicate the following modifications: (1) the insertion of an IS1 element into gene N carried by the lambda fragment; (2) a mutation in the pL oL site of the same fragment, and (3) four large deletions (30 to 50% of the hybrid plasmid) which remove almost the entire lambda fragment. For the latter deletions, one endpoint seems to be fixed in the same restriction fragment of pSC101 while the other endpoint assumes four different positions on the lambda fragment; this might suggest a site-specific recombination event.

Bacteriophage lambda↗
PubMed1980

Organization of alpha-globin genes and mRNA translation in subjects carrying haemoglobin Hasharon (alpha 47 Asp replaced by His) from the Ferrara Region (Northern Italy).

In subjects carrying the haemoglobin Hasharon mutation (alpha 47 replaced by His), originally from the delta of the Po river (Northern Italy), the concentration of the alpha-globin variant has been evaluated and found to be approximately 32%, a value definitely higher than that reported for the same mutant haemoglobin in other regions. Restriction enzyme analysis has been carried out on the DNA from these subjects; the data obtained indicate the presence of three alpha-globin genes per diploid cell. Family studies further show that the two normal genes are located on one chromosome and the Hasharon gene on the other. The origin of the single alpha-gene in the Hasharon-carrying subjects of the Ferrara region is discussed in connection with their haematological and biosynthetic data.

Aspartic Acid↗
PubMed1980

Agenesis of the corpus callosum with mosaicism 46,XY/47,XY, extra ring chromosome.

A case of agenesis of the corpus callosum with a chromosomal abnormality is reported. The patient was a male infant, born to phenotypically normal, non-consanguineous parents. He had an abnormal phenotype, mental retardation, and chromosome mosaicism 46,XY/47,XY,+r. Chromosomal analysis of both parents showed a normal karotype. The origin of the small ring chromosome could not be determined and it is difficult to relate the phenotype of the infant to the cytogenetic findings.

Agenesis of Corpus Callosum↗
PubMed1979

Construction in vitro of hybrid plasmids carrying all the EcoRI fragments from lambdarifd18 DNA.

The cloning of all the eleven fragments obtained by degrading the phage lambdarifd18 by the restriction enzyme EcoRI into the plasmid pSF2124 has been achieved: nine of these fragments have been cloned individually, whereas two others have been cloned jointly in the same plasmid. These fragments harbor, in addition of lambda genes, the genes for ribosomal proteins, the elongation factor Tu, the beta and beta' subunits of RNA polymerase and the ribosomal RNAs. The clones carrying the ribosomal RNA genes have been constructed to provide convenient plasmids to determine the primary structure of ribosomal RNAs. Some further genetic manipulations in vitro have been performed on two of them to remove extraneous non-ribosomal RNA gene sequences; the ribosomal genes purified this way have been subcloned into the plasmid pBR322. Other clones of interest have been obtained which carry the genes for the elongation factor Tu, a number of 50-S ribosomal proteins and the beta subunit of RNA polymerase.

Coliphages↗
PubMed1979

Effect of long-term GH administration on pituitary-thyroid function in idiopathic hypopituitarism.

Twenty-four euthyroid children with idiopathic pituitary dwarfism were studied. The euthyroid state for seven of these patients was determined by negative physical examinations, normal plasma T4 assays and normal 131I uptakes. For the other children, thyroid function was evaluated with T3 and T4 assays and on the basis of the TRH test. Each of the children was treated with HGH in one of three different ways. The first group (five cases) was given a HGH dose, ranging from 12.4 to 17.2 IU/m2//week. The second and third groups (nine and ten cases, respectively) were treated with 10 and 20 IU/m2/week, respectively. Treatment was carried out for periods ranging from 6 months to 6 years. After no less than 6 months of treatment, and at intervals of 6 months (or some multiple of 6 months) plasma T3 and T4 assays, as well as a TRH test were performed in each patient. In some patients one of the indices was once beyond the upper or lower limit of the normal range (none of the children presented simultaneous abnormal levels of more than one index during the controls). This value, however, returned to within normal limits at the following control. There was no correlation between T3, T4 and TSH with the duration of HGH therapy. There was no significant difference between the groups of children treated with the different HGH doses. These data seem to demonstrate that the risk of inducing an alteration in thyroid function in hypopituitary patients during HGH treatment is very slight, and that the irregularly abnormal thyroid indices observed in some of the children during one of the controls might be an expression of their metabolic status at that moment.

Adolescent↗
PubMed1978

Hypophyso-gonadal function in the diabetic child.

14 diabetic boys (five with a family history of diabetes and nine without) and 29 "short normal" boys were studied. A gonadal function test (2.000 IU of hCG i.m. for 3 days and plasma testosterone assay before and after the hCG administration) as well as an LH-RH test (50 microgram i.v.) were carried out. While basal testosterone level turned out to be similar in the two groups of children, it was significantly lower (p less than 0.01) after hCG than the mean value of the control group. This difference was mainly observed in those patients with a family history of diabetes. In the diabetic children, basal LH level was normal and the pituitary LH reserve was lower than in the control group. Both basal FSH level and FSH pituitary reserve were lower than in normal children. These data show that an alteration in the hypothalamus-pituitary-gonadal function is already evident in the diabetic child.

Adolescent↗
PubMed1978

Luteinising hormone-releasing hormone nasal spray as therapy for undescended testicle.

Twenty-two prepubertal children with unilateral cryptorchidism were treated. None had undergone previous medical or surgical to modify the abnormal position of the testes, all of which were located inthe inguinal canal. Treatment was with luteinising hormone-releasing hormone (LH-RH) nasal spray given for 7 days. 9 boys insufflated 100 microgram LH-RH in each nostril 6 times per 24 hours (1200 microgram/24 h); the remaining 13 boys insufflated 500 microgram 12-hourly (1000 microgram/24 h). An LH-RH test (500 microgram IV) was carried out before and after therapy. Full descent of the testis into the scrotum was obtained in 7 out of the 22 cases; in a further 6 cases the testis moved down the inguinal canal. Basal values of luteinising hormone and follicle-stimulating hormone and those for pituitary reserve remained unchanged before and after therapy, and were similar to the values of a control group. No correlation was found between response to therapy and bone age, testosterone level in serum, basal values or pituitary reserve of luteinising hormone or follicle-stimulating hormone.

Administration, Intranasal↗
PubMed1978

Growth hormone release during sleep in growth-retarded children with normal response to pharmacological tests.

Twenty-one prepubertal children of small stature, 10 boys and 11 girls, aged from 4-3 to 12-8 years, were studied. Their height was less than 3rd centile, and during the preceding year all had a growth rate less than 4-5 cm/year. Arginine and L-dopa tests were given, and the release of growth hormone (GH) during monitored sleep was investigated. On the basis of the electroencephalogram and horizontal electro-oculogram, sleep was divided into stages 1-2-3-4 and rapid-eye-movement. All the children had a GH response greater than 8 ng/ml in at least one of the two pharmacological tests, and were therefore accepted as not suffering from GH deficiency. In all 21 children during sleep there was at least one secretory peak with GH greater than 8 ng/ml. Of a total of 46 secretory peaks recorded, 22 (48%) took place during deep, slow sleep (stages 3-4), 10 (22%) during light sleep (stage 2), 10 (22%) during REM sleep, and 4 (8%) during wakening. In 4 patients (19%) no secretory peak was observed during stages 3-4, even though there were peaks at other times. The data (a) show that it is essential to monitor GH throughout the night to ascertain with certainty the presence or absence of physiological secretory peaks of GH; (b) emphasise the rare disagreement between pharmacological and physiological tests; (c) suggest the use of this physiological test for GH secretion in those cases where the insulin test may be hazardous.

Arginine↗