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Biomedical subjects

B Colombo

Publications and source records attributed to B Colombo.

At least 91 records · Page 5Linked to original sources
PubMed1987

Human beta-globin gene HpaI polymorphism in the non-white Cuban population.

The frequency of the association between the beta A, beta S and the beta C genes with the 13.0 kb HpaI restriction fragment has been determined in 72 non-white individuals with different hemoglobin phenotypes giving a value of 0.00 for the beta A gene, 0.52 for the beta S gene and 1.00 for the beta C gene. These data indicate that this association in the Cuban non-white population is similar to that reported for the American Blacks living in the U.S.A. East Coast and for the French West Indies.

Adolescent↗
PubMed1987

Erythrocyte PK deficiency: biochemical characterization of a patient with haemolytic anemia.

Erythrocyte pyruvate kinase deficiency was detected in a Cuban girl with congenital nonspherocytic haemolytic anemia. Kinetic and immunochemical studies showed that the case was different from those hitherto reported. The variant(s) was tentatively designated PK "Alquizar", following the recommendations of the International Committee for Standardization in Hematology.

Adenosine Diphosphate↗
PubMed1986

Molecular characterization of HbH disease in the Cuban population.

Molecular characterization of the alpha-thalassemia mutations present in nine HbH subjects from Cuba was achieved by digestion with Bam HI, Bgl II, and Apa I and hybridization with alpha- and zeta-specific probes. The results show that the molecular basis of the genetic defect is quite homogeneous, all the subjects carrying the - alpha 3.7 type I/--SEA genotype. Variations are observed in the size of the zeta polymorphic fragments.

Cuba↗
PubMed1986

Molecular basis for HbH disease in Italy: geographical distribution of deletional and nondeletional alpha-thalassemia haplotypes.

We have investigated the molecular basis for HbH disease in 16 patients from Sardinia, and central and southern Italy. We have shown that HbH disease is produced by the interaction of at least 10 different deletional or nondeletional alpha-thalassemia haplotypes, some of which have been already described in the Mediterranean area (--Med,-(alpha)20.5,-alpha 3.7 type I,-alpha 3.7 type II, alpha 2 NcoI alpha 1, alpha 2 HphI alpha 1). Among the new mutations found in the course of our study, there is a complete deletion of the zeta-alpha cluster and three nondeletional determinants (alpha alpha T), affecting to various extents alpha-globin gene expression. The different alpha-thalassemia haplotypes are not evenly distributed throughout the country. Two alpha 0 determinants [-(alpha)20.5 and the complete deletion of the zeta-alpha cluster] and four alpha + determinants (-alpha 3.7 type II, three nondeletional alpha alpha T mutations) are found exclusively in southern Italy.

Africa, Northern↗
PubMed1985

Frequency and types of deletional alpha+-thalassemia in northern Sardinia.

We determined by restriction mapping the frequency of the -alpha 3.7 determinant in a random sample of 48 adults in Northern Sardinia. We found a frequency of 0.18 +/- 0.04 and demonstrated that only type I crossover as determined by Apa I digestion (Higgs et al. 1984) is present. Moreover, we showed that this haplotype is not associated with an Rsa I polymorphism 5' to the alpha 2-globin gene. These data support the hypothesis of a unique origin of this deletion in Sardinia.

Adult↗
PubMed1985

Admission of Hb S heterozygotes to a general hospital is relatively reduced in malarial areas.

A comparison between the frequency of Hb S heterozygotes in blood donors, outpatients, and inpatients of a general hospital carried out at the Maputo Central Hospital, Mozambique, where Plasmodium falciparum malaria is endemic, showed a statistically significant lower percentage of Hb S heterozygotes in the inpatient group. Evidence is thus provided that the protection given by Hb S to heterozygotes concerns not only malarial infection itself, but probably a wide spectrum of diseases to which persons who have a special resistance to P falciparum infection are less prone.

Anemia, Sickle Cell↗
PubMed1985

Linkage of the alpha G Philadelphia locus to alpha-thalassemia in the Cuban population.

The inheritance of the alpha-chain hemoglobin variant G Philadelphia was studied in three Cuban families of African ancestry. The variant represented approximately 33% of the total adult hemoglobin in all subjects, and was associated to a 10.5 kb Bam HI restriction fragment. Mild hematological alterations were present. These data indicate that also in the Cuban population the alpha G Philadelphia locus is linked to a deletional alpha-thalassemia.

Adult↗
PubMed1985

Injectable gold dermatitis and proteinuria: retreatment with auranofin.

Seven female patients with classical rheumatoid arthritis (RA), treated successfully with injectable gold salts (Fosfocrisolo ICI, 0.10 g/week, with a serum gold concentration of 200-400 mcg/dl), experienced severe gold side-effects after 3 to 20 months of therapy, requiring their withdrawal from gold despite the good results in both clinical and laboratory findings. Four patients showed mucocutaneous side-effects (2 dermatitis and 2 stomatitis) and three a moderate or severe proteinuria. Renal biopsy was performed in these patients, with a histological picture of membranous glomerulonephritis referable to gold therapy. Remission inducing drug (R.I.D.) therapy being mandatory in patients with a chronic progressive disease, and in view of the previous efficacy of gold salts, the patients were put on oral gold, Auranofin being administered 3 mg b.i.d. Both the mucocutaneous side-effects and the proteinuria ameliorated within 2 to 6 months, and the remission of the disease was maintained. The chemical and pharmacokinetic differences between the above two gold compounds are discussed.

Adult↗
PubMed1985

Double-blind multicentre study of the activity of S-adenosylmethionine in hip and knee osteoarthritis.

A randomized double-blind multicentre clinical trial was carried out to verify the effectiveness and tolerance of S-adenosylmethionine (SAMe) versus ibuprofen in 150 patients with hip and/or knee osteoarthritis. Both drugs were given orally 400 mg thrice daily for 30 days. SAMe exhibited a slightly more marked activity than the reference drug in the management of the various painful manifestations of the joint disease. Minor side-effects developed in five patients of SAMe group, and in 16 patients of ibuprofen group. No drop-outs occurred. No changes were observed in the routine laboratory tests.

Aged↗
PubMed1984

The HbA/HbA2 ratio in newborns and its correlation with fetal maturity.

The relative amounts of HbF, HbA and HbA2 were determined in about 1000 newborns and their parents. In newborns the mean value of HbA2 was 0.27 +/- 0.02% and that of HbF 74.69 +/- 0.25%. The ratio HbA/HbA2 was estimated at different gestational ages and was found to range from 101 at 32 weeks gestation to 76 at 45 weeks, indicating that the relative amount of HbA2 increases with fetal maturation. The correlations between the levels of the different haemoglobins and various indexes of fetal maturation (gestational age, birth weight, crown-heel length and head circumference) are also given.

Adult↗
PubMed1984

Heterogeneity of proteoglycan particles in thin sections and replicas of human articular cartilage.

Proteoglycans were studied in articular cartilage of human femoral condyles. On the basis of the histochemical data obtained by means of light microscopy (AB + CEC MgCl2; pre-incubation with hyaluronidase or with chondroitinase ABC), the proteoglycan concentration as well as the keratan sulfate-chondroitin sulfate ratio seemed to increase proportionally to the articular cartilage depth. AB-proteoglycan particles of various shapes (filament-like or leaf-like) and sizes (10 nm or 16-18 nm), depending on the articular cartilage depth and on the histochemical conditions (as above), were visualized in thin sections. Similar heterogeneity of elongated non-collagen particles was shown in replicas of fresh freeze-fractured and deep-etched specimens. An interpretation of the distribution and nature of articular cartilage proteoglycans was made by comparing the obtained morphological findings.

Adolescent↗