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Biomedical subjects

I Ferrari

Publications and source records attributed to I Ferrari.

At least 37 records · Page 2Linked to original sources
PubMed1991

Ifosfamide and etoposide salvage treatment in advanced ovarian cancer.

Twelve FIGO stage III-IV ovarian cancer patients progressing or relapsing after primary cisplatin-containing combination chemotherapy were treated with ifosfamide and etoposide. Only patients with clinically evaluable disease entered the trial. The 12 patients received a median number of 3 courses (range 1-6). No complete or partial response and two disease stabilizations were observed. Ten patients progressed on therapy. The combination of ifosfamide and etoposide does not appear to be an effective salvage treatment for advanced ovarian cancer.

Adult↗
PubMed1989

[Epilepsy in ring chromosome 14 syndrome].

A patient with ring 14 chromosome is reported. On the basis of this case and of a review of 28 cases published in the literature, the frequency of clinical signs and symptoms is determined, the constant and early incidence of epileptic seizures is emphasized and their characteristics are described. The associated congenital malformations are listed and their importance for karyotyping and consequent detection of new cases is emphasized.

Abnormalities, Multiple↗
PubMed1988

Clastogenic effect of the plant alkaloid ellipticine on bone marrow cells of Wistar rats and on human peripheral blood lymphocytes.

Ellipticine (EPC), a natural alkaloid extracted from Aspidosperma williansii (Apocynaceae), is known to have antitumor and cytotoxic activities on various types of tumors. This drug showed a strong clastogenic effect on bone marrow cells of Wistar rats treated in vivo (7.75-31.00 mg/kg body weight). EPC was also tested in vitro using the human peripheral blood lymphocyte system, at concentrations 100 times lower than those used in the in vivo test on rats, since the cytotoxic effect on lymphocytes was very strong. At the 2 highest concentrations used (7.75 X 10(-1) and 1.55 X 10(-1) micrograms/ml culture medium), EPC induced a statistically significant increase in the frequency of chromosome aberrations and sister-chromatid exchanges in lymphocytes. Based on data reported in the literature, we have tried to establish relationships between the clastogenic effect observed and the process of EPC intercalation into DNA and the formation of protein-associated DNA-strand breaks probably promoted by topoisomerase enzymes.

Alkaloids↗
PubMed1987

An evaluation of four methods for the detection of heterozygous cystinuria.

Heterozygotes for cystinuria (types II and III) may be detected on the basis of slight to moderate elevations in urinary cystine, lysine and sometimes arginine. This seems to be a common genetic trait, and there are indications of an increased risk of urinary stone disease. In order to test the sensitivity and reliability of the procedures normally used for screening and diagnosis of heterozygous cystinuria, we studied 32 heterozygotes previously diagnosed by ion-exchange chromatography of urinary amino acids, and 23 healthy individuals. A random urine sample from each subject was analysed using the cyanide-nitroprusside test, thin-layer amino acid chromatography, colorimetric estimations of cystine and lysine, and ion-exchange amino acid chromatography. Thin-layer chromatography provided the highest sensitivity. Thus the frequency of heterozygotes calculated in previous studies, based on screening by the cyanide-nitroprusside test, may be under-estimated. The colorimetric estimations of cystine and lysine provided low sensitivity as screening tests and, compared with the ion-exchange chromatography, were unreliable diagnostic methods.

Chromatography, Ion Exchange↗
PubMed1987

Tetrasomy 9p caused by idic (9) (pter----q13----pter).

Cytogenetic investigation on a malformed male infant showed an extra chromosome similar to chromosome 9 in all metaphases studied. GTG, CBG, and G-11 staining suggested that the extra chromosome was an abnormal 9, permitting the identification of the chromosome constitution as 47,XY,+idic (9) (pter----q13----pter).

Abnormalities, Multiple↗
PubMed1986

Frequency of cystinuria among stone-forming patients in region of Brazil.

Occasional urine samples from 200 stone-forming individuals were screened by the successive application of the cyanide-nitroprusside test, qualitative-semiquantitative thin-layer amino acid chromatography, and quantitative ion-exchange amino acid analysis to determine the frequency of cystinuria in this region of Brazil. Only 1 homozygous cystinuria patient was detected, a lower frequency than 1 to 6 per cent reported in other countries. The patient's family showed a I/I genotype. Since 6 heterozygotes for cystinuria +/II or +/III were also detected, the relative rarity of homozygotes in this sample supports the view of the relatively greater contribution of etiologic factors other than gene frequency to stone formation. The importance of diagnosis based on quantitative amino acid analysis is emphasized because of the different therapeutic and prognostic implications of the homozygote and heterozygote forms of the disease.

Amino Acids↗
PubMed1986

Cytogenetic analysis of some Brazilian marsupials (Didelphidae: Marsupialia).

Three species of marsupials from the Amazon region (Marmosa cinerea, Caluromys lanatus, and Didelphis marsupialis) and two from the region of São Paulo (Didelphis marsupialis and Didelphis albiventris) were studied. The G-banding pattern of the species with 2n = 14 (M. cinerea and C. lanatus) was very similar, as well as the pattern of G-bands in the species with 22 chromosomes (Didelphis). All of the autosomes of M. cinerea and D. albiventris have centromeric C-bands and the Y chromosome is totally C-band positive. The long arm of the M. cinerea X chromosome is completely C-band positive except for a negative band close to the centromeric region. In D. albiventris the long arm of the X chromosome is C-band positive except for a negative band close to the telomeric region. In M. cinerea the silver-stained nucleolar organizer regions (Ag-NORs) are found in the acrocentric chromosomes, being located in the telomeric region of one pair and in the centromeric region of the other pair. Caluromys lanatus has centromeric Ag-NORs in one acrocentric and in one submetacentric chromosome pairs. Didelphis marsupialis has three chromosome pairs with telomeric Ag-NORs. In D. albiventris the Ag-NORs are terminal and located in both arms of one pair and in the long arm of two pairs of chromosomes.

Animals↗
PubMed1985

Heterozygous cystinuria and urinary lithiasis.

Cystinuria is a recessively inherited transport disorder, with at least three mutant alleles (I, II, and III) demonstrable. I/I, II/II, and III/III homozygotes and I/II, I/III, and II/III compound heterozygotes (cystinuric patients) have high urinary concentrations of cystine, lysine, arginine, and ornithine and frequently form cystine stones. +/I heterozygotes (nondetectable) are phenotypically normal, whereas +/II and +/III heterozygotes (detectable) show variable increases in urinary cystine and lysine concentration and at times increases in urinary arginine levels. The objectives of the present study were to determine the frequency of +/II heterozygotes among stone-forming and nonstone-forming individuals from the same region of Brazil and to evaluate the possible relationship between heterozygous cystinuria and urinary lithiasis. When urine samples from 5,150 individuals (5,000 nonstone-forming individuals and 150 stone-forming individuals) were screened by the qualitative cyanide-nitroprusside cystine test, by thin-layer amino acid chromatography, and by quantitative amino acid determination by ion-exchange chromatography, 32 +/II or +/III heterozygotes (26 nonstone-forming and six stone-forming individuals) were detected. The frequency of detectable heterozygotes among the stone-forming individuals (1:25) was significantly higher than that among nonstone-forming individuals (1:104), which provides additional evidence that heterozygosity for +/II and +/III cystinuria is a risk factor in the formation of urinary stones. No significant difference was detected in urinary cystine concentration or in terms of the various characteristics of urolithiasis when stone-forming heterozygotes were compared to nonstone-forming heterozygotes. These data suggest that the tendency towards stone-forming among heterozygotes is probably owing to a complex and multifactorial mechanism.

Arginine↗
PubMed1982

Classic X-linked spondyloepiphyseal dysplasia tarda in a woman with normal karyotype.

A case of classic X-linked SED tarda in a woman with normal karyotype is described. The clinical and radiological findings left no doubts about the diagnosis of classical SED tarda (X-linked). The most probable hypothesis for explaining the clinical manifestation of this pathology in a woman with normal karyotype is random inactivation of all X chromosomes with the normal allele in her cells.

Adult↗
PubMed1981

Some observations on genetic factors in urolithiasis.

In an attempt to detect genetic factors linked with urolithiasis, a study based on medical and genetic data and on several biochemical procedures was done on 50 stone formers and on 50 controls. Genetic factors likely to be related to stone forming were found in 4 patients: 2 cases of incomplete renal tubular acidosis, and 2 cases of heterozygous cystinuria. A study of the families of 3 of these individuals revealed 4 additional cases of genetically determined metabolic diseases. Despite the small number of patients for whom genetic factors were determined and the fact that the lithiasis cases with and without family recurrence showed similar behavior with respect to the different biochemical parameters studied, the presence of genetic factors is suggested by the significantly more frequent family history of lithiasis found for stone formers than for the controls. Identifying the cases with family recurrence, in which stone formation occurs earlier and is more frequently recurrent, and the stone-forming patients with genetically determined metabolic disorders, which may benefit from specific measures, will probably contribute to a better prognosis for these patients.

Acidosis, Renal Tubular↗
PubMed1980

Partial 3p trisomy and different rearrangements involving chromosome 3 in the proposita's family.

A case of partial 3p trisomy is reported here. A review of published cases (8 males, 2 females, 7 families) shows a characteristic pattern of anomalies, constituting one more syndrome of multiple congenital anomaly and mental retardation (MCA/MR) characterized by microcephaly, brachycephaly, frontal bossing, temporal identation, square hypertelorism or telecanthus, epicanthus, short nose with a large tip, prominent cheeks, long and protruding philtrum, large and downturned mouth, protruding mid-upper lip, micro- or retrognathia, short neck, congenital heart defects, gastrointestinal malformation, penile hypoplasia, neuromotor or mental retardation, and predominance of whorls on digits. The proposita had a 46,XX,der(11),t(3;11)(p21;q25) karyotype. The mother was carrier of a de novo 3;11 balanced translocation. Chromosome mosaicism was detected in a female sibling of the proposita: 46% of her cells were 46,XX and 54% had 46,22,t(3;20(p21;13) karyotype - ie, a de novo 3;20 balanced translocation. We discuss the origin of this mosaicism and the possible meaning of the breaks involving the same region of chromosome 3 (region 3p 21) in the members of the proposita's family.

Abnormalities, Multiple↗
PubMed1980

Metabolic factors in urolithiasis: a study in Brazil.

Clinical and biochemical data were obtained from 50 patients in whom stones form and 20 controls to set up and test a screening procedure for detecting metabolic abnormalities related to the formation of urinary calculi and to provide a preliminary estimate of the frequency of these disorders in our area. A comparison between patients in whom stones form and controls in terms of the quantitative biochemical parameters evaluated (serum calcium, uric acid and inorganic phosphate, and urine calcium, uric acid, inorganic phosphate, oxalic acid, xanthine and alpha-amino-nitrogen) showed a significant difference only with respect to excretion of urinary oxalate by adults, which was higher in patients in whom stones form. Metabolic disorders were detected in 15 adult patients with stones. Of these patients 9 had isolated hyperoxaluria, 3 had incomplete renal tubular acidosis, 1 had idiopathic hypercalciuria, 1 had heterozygous cystinuria and 1 had idiopathic hypercalciuria associated with heterozygous cystinuria. These results suggest a high frequency of metabolic abnormalities in patients in whom stones form in our area, so that the wider use of the screening used here may benefit a large number of patients with preventive and therapeutic measures.

Adolescent↗
PubMed1978

Incidence na dprevalence of Down's syndrome in the city of Ribeirão Preto, São Paulo (Brazil, 1972.

An incidence rate of 1.66 was determined for Down's syndrome by a check of hospital birth records in the city of Ribeirão Preto for the year 1972, based on the premise that most births in the population residing in the urban area of Ribeirão Preto occur in hospitals. The prevalence rate was estimated as being 25.2. A search for affected individuals born before 1972 was carried out by physical examination of all persons receiving medical care or educational and social assistance from several city institutions. The prevalence value must be considered as an underestimate since the methods used allowed only for the detection of cases which were getting some kind of assistance.

Brazil↗
PubMed1977

[Satellite association in two trisomic cases of Down's syndrome and in one healthy mother, with acrocentric variants (author's transl)].

The frequency of satellite association of two different acrocentric variants in two trisomic mongols was studied taking in consideration the possible relationship of these chromosomes in the etiology of non-disjunction events. The participation of the two variants and their homologous in satellite associations showed no differences suggesting, randommess in these two families.

Child↗
PubMed1977

[Cytogenetic studies on hypospadia in males (author's transl)].

The karyotypes of 30 male hypospadiacs were studied. Of these, the G-bands patterns for 4 cases were established. The chromosomal abnormalities showed great variations from one hypospadiac to another and no definite etiological correlations were established. Abnormalities of G-bands patterns were not found.

Chromosome Mapping↗