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Biomedical subjects

B Colombo

Publications and source records attributed to B Colombo.

At least 37 records · Page 2Linked to original sources

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

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

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

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

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

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

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

[The evolution of cardiac impairment in Duchenne's muscular dystrophy. Electrovector-cardiographic, polycardiographic and echocardiographic aspects (author's transl)].

The Authors have submitted to an electrocardiographic, vectorcardiographic, mechanocardiographic and echocardiographic investigation 4 cases with Duchenne's disease, which had already been studied by the Authors several years before. The longitudinal study has demonstrated, above all, the striking capacity of the electrocardiographic aspects of the disease to evolve from a normal to a "pseudo-necrotic" pattern. Such evolution, among other things, provides an important argument against the interpretation that attributes the electrocardiographic and vectorcardiographic changes in the initial stages of the disease to a persistence of a QRS loop of infantile type on a genetic basis. But for rare exceptions, the systolic time intervals and kinetocardiogram, which showed early indicative changes on the first examination, have successively shown easily predictable behavior considering the poor cardiovascular conditions of the patients on the second examination. The echocardiogram has proved useful in demonstrating the morphological and functional changes of the ventricular walls and of the interventricular septum, besides the eventual associated mitral valve prolapse. The echocardiographic evaluation of the left ventricular performance in quantitative terms, however, seems somewhat unreliable owing to the difficulty of obtaining technically good images, due to the thoracic deformity. The dystrophic changes recently observed in the myocardium even at ultrastructural level can probably explain not only the electrocardiographic and vectorcardiographic abnormalities but also the kinetocardiographic and echocardiographic changes. Among the above mentioned theoretical and practical considerations the possibility should be underlined that some cases of cardiomyopathy labelled as "primary" are in fact unrecognized dystrophic cardiomyopathies.

Adolescent

On some cardiological aspects of Steinert's disease (myotonic dystrophy).

The authors investigated 10 ambulant patients with myotonic dystrophy, under 40 years of age (mean 22.3 years) and free of subjective heart complaints. Not only Ecg alterations but also kinetocardiographic changes and anomalies of the systolic intervals were rarer and milder than those found in patients with other neuromyopathies, namely Friedreich's disease and Duchenne's disease. This observation suggests that, at least in older patients, not all the cardiac alterations usually attributed to myotonic dystrophy are really imputable to the disease. On the other hand, the observed echocardiographic alterations (reduction of per cent systolic-diastolic variation of internal diameter of the left ventricle and/or the ejection fraction) apparently indicate an early tendency to modification of left ventricular function in patients with myotonic dystrophy. Since other authors have found cardiac anomalies in this disease before the onset of any neurological manifestations, the possibility emerges that some cases of myocardial disease interpreted as "primitive" might in reality be secondary to undetected myopathy.

Adolescent

Heterogeneity of hereditary methaemoglobinaemia: a study of 4 Cuban families with NADH-Methaemoglobin reductase deficiency including a new variant (Santiago de Cuba variant).

NADH-methaemoglobin reductase deficiency has been found in 4 Cuban families; 3 subjects carried the mild form of the deficiency while in 2 sibs of the fourth family the deficiency was associated with neurological involvement. The parents in this family were consanguinous and the sibs were shown to be homozygous for a new fast electrophoretic variant. It was named Diaphorase Santiago de Cuba.

Adolescent

Hb J Camaguey alpha 2 141(HC3) Arg replaced by Gly beta 2: a new abnormal human hemoglobin.

An electrophoretic fast-moving hemoglobin was found in a Cuban family of Spanish descent. Structural studies demonstrated a replacement of arginine by glycine at alpha 141(HC3). This change is not associated with clinical symptoms, although the substitution is in one of the residues involved in the stabilization of the deoxy form of the hemoglobin molecule.

Amino Acids