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Biomedical subjects

B Dallapiccola

Publications and source records attributed to B Dallapiccola.

At least 325 records · Page 18Linked to original sources
PubMed1986

Increased erythrocyte adenosine deaminase activity without haemolytic anaemia.

A 4-fold increase of red blood cell adenosine deaminase (ADA) activity was found in a patient without haemolytic anaemia, but with mild anisopoikilocytosis. High-performance liquid chromatography showed a 40% reduction of adenosine-5'-triphosphate (ATP) while all the other nucleotides were in normal ranges. The patient's parents (first cousins) and a brother displayed the same enzyme activities as the controls. This observation suggests that mild increases of ADA activity is neither a marker for congenital hypoplastic anaemia as previously reported nor associated with haemolytic anaemia.

Adenosine Deaminase↗
PubMed1986

Isoenzymic analysis of fifteen non-lysosomal enzymes in human chorionic villi.

The electrophoretic pattern of 15 non-lysosomal enzymes was established in human chorionic villi sampled at 8-12 weeks of gestation from 30 women requesting legal abortion. The product of 23 genes was detected at this stage of development. Trophoblast cells are mitotic derivates from the zygote. Thus, chorionic villi have the same genetic constitution as the embryo. Establishing the normal isoenzymatic patterns in fetal life is of wide theoretical and biological interest. In particular, it contributes to the understanding of gene modulation and the differential activity of alleloenzymes during early embryogenesis and development. In addition, the possibility is suggested that in the future electrophoresis analysis can be used in conjunction with quantitative enzyme assay for the fetal diagnosis of specific metabolic disorders involving one or more isoenzymes.

Chorionic Villi↗
PubMed1985

Increased rate of superoxide ion generation in Fanconi anemia erythrocytes.

The rate of generation of superoxide ion, the concentration of Cu, Zn superoxide dismutase and the hematological parameters were measured in red blood cells obtained from Fanconi anemia patients and from healthy individuals. No significative difference in the superoxide dismutase concentration was found, while the rate of generation of the superoxide ion doubled in Fanconi anemia patients. The steady-state concentration of the superoxide ion was calculated from these data and was found to be 2.3 times higher in Fanconi anemia erythrocytes than in controls. The possible consequences with respect to the alterations in FA are discussed.

Anemia, Aplastic↗
PubMed1985

Red blood cell adenine nucleotides abnormalities in Down syndrome.

The red blood cell adenine nucleotides of 20 Down Syndrome patients and 20 healthy controls were determined by a new high-performance liquid chromatography method. All patients showed increased concentrations of adenosine 5'-diphosphate (ADP) and adenosine 5'-monophosphate (AMP), while adenosine 5'-triphosphate (ATP), nicotinamide adenine dinucleotide (NAD+) and nicotinamide adenine dinucleotide phosphate (NADP+) were within normal ranges. This alternation of the energetic charge could be partly responsible for the impairment of glucose metabolism in these patients.

Adenine Nucleotides↗
PubMed1985

Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overview.

We report on a sibship with one brother and two MZ twin sisters affected with osteoporosis-pseudoglioma syndrome. An analysis of the present and literature data showed that vitreoretinal dysplasia or phthisis bulbi and X-ray evidence of osteoporosis must be considered minimal diagnostic criteria. Mental retardation, ligamentous laxity, and other reported anomalies are highly variable manifestations in the syndrome. Segregation analysis confirmed autosomal recessive transmission. The geographic origin of reported families suggests a higher gene frequency in Mediterranean countries.

Adult↗
PubMed1985

Effect of oxidants and antioxidants on chromosomal breakage in Fanconi anemia lymphocytes.

Peripheral blood lymphocytes from eight Fanconi anemia (FA) patients, 14 FA heterozygotes, and nine normal subjects have been tested for their susceptibility to chromosomal breakage induction by diepoxybutane (DEB) and by two peroxides. In addition, the effect of five antioxidants was investigated in standard cultures and in cultures stressed either with DEB or with butylhydroperoxide (BHP) or with hydrogen peroxide (H2O2). DEB, BHP, and H2O2 dramatically increased the chromosomal breakage levels in homozygous and heterozygous FA cells. A partial correction of chromosomal instability was obtained by treating the patients' lymphocytes with antioxidants. A "protective" effect was also noted in the DEB or peroxide-stressed lymphocytes of patients and heterozygotes, grown in the presence of antioxidants.

Anemia, Aplastic↗
PubMed1985

The effect of aphidicolin on Fanconi's anemia lymphocyte chromosomes.

The cytogenetic effect of the DNA polymerase alpha inhibitor aphidicolin (APC) at a dose which did not affect cell cycle progression was determined in normal and Fanconi's anemia (FA) lymphocytes. APC enhanced sister-chromatid exchange (SCE) levels by about twice both in control and FA cells, while the yields of chromosome breakage increased up to 20 times in normal lymphocytes and 4 times in FA cells. APC did not act synergistically with the bifunctional alkylating diepoxybutane in terms of SCE either in normal or in FA lymphocytes. However, chromosome aberrations in cultures from normal subjects were much more than expected by an additive mode of action.

Anemia, Aplastic↗
PubMed1985

Discordant sex in one of three monozygotic triplets.

A case is reported of monozygotic triplets, discordant for phenotypic sex, in which the female presented at birth with the features of Turner's syndrome. Chromosomal analyses showed homogeneous 46,XY karyotypes in the lymphocytes of the three sibs, while a 45,X non-mosaic chromosome constitution was detected in skin fibroblasts of the female triplet. It is suggested that mitotic non-disjunction or anaphase lag occurring early during embryonic development accounted for the occurrence of monosomy X in one cell line of the affected triplet. Previous observations of monozygotic twin pairs discordant for chromosome constitutions are reviewed.

Blood Grouping and Crossmatching↗
PubMed1985

Monitoring of pregnancies at risk for Fanconi's anemia by chorionic villi sampling.

Two pregnancies at risk for Fanconi's anemia have been monitored by a cytogenetic method in the first trimester of gestation. The rate of chromosome breakage was evaluated in spontaneous mitoses from a direct preparation of trophoblasts in one case and from mitoses obtained from standard cultures and from mitoses treated with diepoxybutane in both cases. Cytogenetic studies were carried out also at 16 weeks from amniotic fluid cells in one case, and in fibroblasts sampled from the aborted fetus in the other. In all the experimental conditions the mean frequency of breaks/cell was in the range of controls, suggesting that the fetuses were unaffected by Fanconi's anemia. In one case the results have been confirmed by chromosome analysis at birth.

Adult↗
PubMed1984

Chromosome studies in patients with T-CLL chronic lymphocytic leukemia and expansions of granular lymphocytes.

Chromosome analyses were carried out in eight patients with lymphoproliferative disorders of mature T and NK cells. Three cases were characterized by an abnormal expansion of granular lymphocytes (GL), one by a lymphoma of GL with leukemic spread, and four by an OKT4-T-CLL. In four patients cytogenetic studies were performed on bone marrow cells; in seven patients peripheral blood lymphocytes were examined by either direct preparations or PHA-stimulated cultures. Six patients displayed a normal karyotype. Two cases belonging to the OKT4-T-CLL group had a chromosome number ranging from 44 to 47, with multiple numerical and structural clonal anomalies. Clonal anomalies could be a feature of patients with the more aggressive clinical course.

Adult↗
PubMed1984

Premature centromere splitting in a presumptive mild form of Roberts syndrome.

Cytogenetic investigations performed on lymphocytes from a 29-year-old woman with no severe anomalies, allowed us to recognize a mild form of Roberts syndrome. The proposita's metaphases showed a consistent centromere splitting, especially affecting chromosomes 16, 19, 21, and 22. This centromere separation sequence seems to be unique to Roberts syndrome cells. The experiments also showed that no diffusible factor, involved in the mechanism of sister chromatid pairing-disjunction, exists.

Abnormalities, Multiple↗
PubMed1984

Cytogenetic findings in acute promyelocytic leukaemia. A report of 25 cases.

Cytogenetic analyses of bone marrow cells were carried out by means of direct technique and short-term cultures in 25 acute promyelocytic leukaemia (APL) patients. 16 were affected by the hypergranular form and 9 by the M3-variant. The t(15;17) was documented at diagnosis in 15 patients. In addition, 2 cases, in which an M3 morphology and a normal karyotype on direct preparation were found at diagnosis, disclosed the chromosome anomaly in cultured cells at relapse, in concomitance with a change of blast morphology to the M3-variant. However, the t(15;17) was a consistent feature in 5 of the 15 patients with cells analysed on direct preparations only and in all cases who had successful bone marrow cultures. Overall, the 15;17 translocation was detected in 7 out of 9 patients with the M3-variant and in 8 out of 16 patients with typical M3. Whenever the chromosome preparations were made after culture, 7/7 had the translocation in the M3-V group and 5/5 in the M3 group. No obvious differences in clinical features or outcome were evident in the patients, irrespective of their cytogenetic findings.

Adolescent↗
PubMed1984

A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils.

Mosaic trisomy 14 is described in a patient with severe developmental retardation and congenital malformations. Together with a few previous reports, this case suggests the existence of a syndrome associated with this chromosome imbalance. Hitherto unrecognised manifestations of trisomy 14 mosaicism were, in our patient, abnormalities of the neutrophil nuclei, which consisted of multiple pedunculated or sessile projections, similar to those characteristically associated with trisomy 13 syndrome.

Abnormalities, Multiple↗
PubMed1984

Regional mapping of hexokinase-1 within the short arm of chromosome 10.

Hexokinase-1 (HK1) activity was determined in red cells of 5 patients with partial duplications of chromosome 10, all of which involved the 10p region. In 4 patients the levels of HK1 activity were higher than the mean activity of controls, strongly indicating a triplex dosage effect. The most likely regional assignment for HK1 would appear to be 10p11.2.

Child↗
PubMed1984

Red blood cell hexokinase in Fanconi's anemia.

The activity of ten red blood cell enzymes, including hexokinase, has been measured in 6 Fanconi's anemia patients. In disagreement with previous reports, in no instance were reduced or increased hexokinase levels found. Furthermore, the hexokinase isozymic pattern, thermostability, pH dependence of activity and kinetic properties were also in the normal range.

Adolescent↗
PubMed1984

A syndrome with true anophthalmia, hand-foot defects and mental retardation.

A syndrome with true anophthalmia, facial anomalies, hand and foot defects and mental retardation, has been observed in three patients. This syndrome is different from the Lenz syndrome, which includes microphthalmia or anophthalmia with narrow shoulders, double thumbs, skeletal abnormalities such as clavicle thinning, dental, cardiovascular and urogenital malformations without mental retardation.

Abnormalities, Multiple↗