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Biomedical subjects

A Massa

Publications and source records attributed to A Massa.

At least 37 records · Page 2Linked to original sources
PubMed1999

Two recent cases of tertiary syphilis.

Tertiary syphilis is now a rare disease in Europe, mainly as a result of occasional antibiotherapy for concomitant infections. However early syphilis is rising in USA and Germany, and it is necessary to maintain an high level of knowledge and suspicion to achieve a diagnosis in the tertiary stage of the disease. In this report two patients with benign tertiary syphilis are described. The first one is a 55-year-old female with erythemato-violaceous annular scaling plaques on the right buttock and scapula and on both thighs, which had a negative and then a low VDRL titer. The second case is a 33-year-old mentally handicapped female with erythematous plaques, with psoriasiform scaling in the trunk and well defined crusted ulcers on the face, which also had negative VDRL. Biopsy of the skin lesions revealed plasmocytic infiltrate with endothelial swelling without granulomas and with negative silver stains in both patients. The investigation for cardiovascular and neurological involvement was negative in both patients. Diagnosis of tertiary syphilis can be difficult as clinical pictures can be misleading, similar to other granulomatous diseases, and serological titers can be low or negative. We recall the necessity of ruling out neurological and cardiac involvement in this stage of syphilis. These cases are reported as a reminder of the possibility of syphilis, so that new cases are not misdiagnosed and mistreated as other diseases.

Adult↗
PubMed1998

[Photosensitivity induced by piroxicam].

In Portugal, piroxicam is one of the most prescribed non-steroidal anti-inflammatory agents (NSAIDs) and is frequently associated to photosensitivity skin reactions, well known by all dermatologists. The authors review the physiopathology and clinical patterns of this adverse drug reaction. Importance is given to the high prevalence of thimerosal sensitisation in our country, a marker of piroxicam photosensitivity. The authors propose that piroxicam prescription should be avoided in Portugal, as this drug can be substituted by any other NSAID, without marked photosensitivity.

Anti-Inflammatory Agents, Non-Steroidal↗
PubMed1998

African histoplasmosis: therapeutic efficacy of itraconazole.

A patient with African form of histoplasmosis was treated for 7 years with ketoconazole, with no response; after a 9-month daily treatment with 100 mg of itraconazole the patient was successfully cured. No evidence of relapse was observed during the 3-year follow-up period.

Antifungal Agents↗
PubMed1998

Childhood cutaneous mucinosis.

A case of childhood cutaneous mucinosis is described. This is a clinical condition that is rarely seen and has only recently been included in the group of primary mucinosis.

Adolescent↗
PubMed1998

[Skin cancer].

The authors, using the Cancer Registry data of S. Antonio General Hospital in Oporto, selected the cancer cases from 1981 to 1993. Distribution according to age, sex, topography and morphology is presented. Seven point nine percent of the 12,124 cases mentioned in the Registry were skin cancers (n = 883). They were mostly on the face (56.8%), trunk (11.7%) and scalp and neck (7.7%). As for the type of tumour, 472 basaliomas, 231 squamous cell carcinomas and 63 melanomas were recorded. One may conclude that basaliomas and squamous cell cancers arise at a later age than melanomas; melanomas are more frequent on the lower limbs and on the trunk; squamous cell carcinomas are more frequent on the face and lips. Basalioma is more frequent on the face. These results are in accordance with those published internationally.

Adolescent↗
PubMed1997

[Scleredema, acanthosis nigricans and IgA/Kappa multiple myeloma].

BACKGROUND: Scleredema is an uncommon disease of unknown origin. Characteristic thick skin with symmetrical diffuse induration develops. The infiltration begins on the face and neck then extends to the root of the upper limbs and trunk. There are three clinical types of scleredema. The first is preceded by an upper airway infection and progresses rapidly before regressing spontaneously within a few months. The second type is associated with chronic diabetes. The third type is associated with monoclonal gammapathy, rarely of myelomatous type, and develops insidiously. Acanthosis nigricans can be a paraneoplastic syndrome, often associated with a gastrointestinal cancer. Few cases associating scleredema and acanathosis nigricans have been reported. CASE REPORT: A 56-year old woman had developed scleredema over the last 6 years when acanthosis nigricans appeared together with IgA kappa multiple myeloma. Treatment with melphalan and prednisolone was effective against the myeloma as well as the scleredema and acanthosis nigricans. DISCUSSION: Only five cases of associated scleredema and multiple myeloma have been reported, four with kappa IgG myeloma and one with IgA myeloma. An association between acanthosis nigricans and sclerederma could be coincidental although the fact that the different manifestations regressed together after the myeloma treatment would suggest some relationship between these three diseases.

Acanthosis Nigricans↗
PubMed1996

Radiotherapy combined with erythropoietin for the treatment of extramedullary hematopoiesis in an alloimmunized patient with thalassemia intermedia.

We report a patient with thalassemia intermedia who developed a mediastinal syndrome due to the growth of paravertebral hematopoietic masses in the posterior mediastinum. Because the patient did not receive blood transfusions due to alloimmunization, she was first treated with human recombinant erythropoietin (escalating low-moderate doses) to recover hemoglobin levels, then in association with radiotherapy to prevent a worsening of her anemia. The mean Hb level dramatically increased and peaked at week 11, to 83 g/l, and remained unchanged before and after radiotherapy (81 versus 78 g/l). Immediately after radiotherapy extramedullary hematopoiesis volume decreased by 16.4%.

Adult↗
PubMed1996

Lichen planus and chronic hepatitis C: exacerbation of the lichen under interferon-alpha-2a therapy.

A 51-year-old man was treated for histologically proven chronic hepatitis C with 3 MU of recombinant interferon-alpha-2a three times a week. Before interferon therapy, a mild lichen planus (hypertrophic variant) had been diagnosed, which exacerbated within 6 weeks of treatment to a severe erosive oral form. Then interferon therapy was stopped because local measures did not improve oral lesions. However, the patient tolerated interferon therapy well, and the initially four-fold elevated aminotransferase levels returned to normal. Nine weeks after discontinuation of interferon therapy, nearly all the buccal mucous membrane lesions had disappeared. But 8 weeks after withdrawal of interferon, aminotransferase levels rose again to six times the normal range. Treating physicians should know that a pre-existing lichen planus would potentially exacerbate, as a side effect of interferon-alpha-2a therapy of chronic hepatitis. However, further observations are needed to decide its clinical relevance.

Antiviral Agents↗
PubMed1994

Early detection of nephrotoxic effects in thalassemic patients receiving desferrioxamine therapy.

Nineteen transfusion-dependent beta-thalassemia major patients were included in the study. Six of these patients underwent chelation therapy with desferrioxamine by subcutaneous infusion (50 mg/kg/12 hr) and 13 received intravenous infusion (50 mg/kg/6 hr or 100 mg/kg/24 hr). BUN, creatinine, creatinine clearance, beta 2-microglobulin, urinary beta 2-microglobulin and urinary growth hormone excretion were evaluated during desferrioxamine treatment. Thirteen out of nineteen patients presented tubular damage indicated by increased excretion of urinary beta 2-microglobulin. 85% (11 of 13) of these patients showed more serious tubular damage, as demonstrated by concurrent increased urinary growth hormone excretion. Moreover, a positive correlation between urinary growth hormone excretion and urinary beta 2-microglobulin was observed (P < 0.05).

Administration, Cutaneous↗
PubMed1993

The homeotic gene products in the control of cell differentiation and proliferation.

Embryo development is controlled by a successive series of genes that provide each cell in the growing embryo with precise position information. Knowledge of these genes is known most completely from Drosophila, where a simple initial pattern generated by maternal effect genes is gradually segmented by the sequential transient expression of three successive series of genes: the gap genes, the pair-rule genes, and the segment polarity genes. Superimposing their action on the preexisting segments, these homeotic genes cause unique and often very distinctive patterns of differentiation for different segments. In humans, about 40 homeotic genes have been identified and are grouped into four clusters on chromosomes 2, 7, 12, and 17, whose organization reflects their spatial and temporal expression. Several homeotic genes have been found expressed not only in embryonic tissues, but also in adult tissues, most notably in the hematopoietic lineage, and also in tumors, especially leukemia, teratocarcinoma, and neuroblastoma, wherein their expression pattern is modified in a complex manner by retinoic acid. The target genes of the transcription factors encoded by the homeotic genes are largely unknown, but recent reports indicate that they may regulate the expression of adhesion molecules on the membrane and the production of components of the extracellular matrix. Abnormal expression of these genes can therefore affect not only cell proliferation, but also the spread of cells to aberrant locations.

Animals↗
PubMed1989

Thalassemia intermedia resulting from a mild beta-thalassemia mutation.

We investigated the molecular basis for a mild phenotype in a group of patients with beta(+) thalassemia originating from Northern Sardinia by definition of the beta-thalassemia mutation, alpha-globin mapping and beta-globin haplotype determination. In nine patients, we detected the compound heterozygous state for the -87 promoter mutation and the codon 39 nonsense mutation; in one patient, we detected the combination of the codon 39 nonsense mutation and beta(+) IVS-1 nt 6 mutation. These patients were either nontransfusion dependent for survival or became transfusion dependent later. We did not detect the -87 promoter mutation in any of 115 thalassemia major patients originating from the same part of Sardinia, investigated as controls. Heterozygotes for the -87 promoter mutation showed statistically higher hemoglobin (Hb) levels and larger and better hemoglobinized RBCs as compared with heterozygotes for the codon 39 nonsense mutation. From these data, we conclude that the -87 promoter mutation is a mild thalassemia allele, able to produce a phenotype of intermediate severity even in combination with a beta(0)-thalassemia mutant. The coinheritance of alpha-thalassemia or the -++-- 5' subhaplotype in several cases may have contributed to development of the mild clinical picture. Characterization of the beta-thalassemia mutation in combination with alpha-globin mapping and haplotype analysis may allow a better estimate of the probability of a given clinical phenotype, thus permitting more accurate counseling.

Adolescent↗
PubMed1984

Heterocellular hereditary persistence of fetal hemoglobin (HPFH). Molecular mechanisms of abnormal gamma-gene expression in association with beta thalassemia and linkage relationship with the beta-globin gene cluster.

We report a study of four families of Italian origin in which heterocellular HPFH is inherited linked to beta thalassemia over two or three generations. The HPFH + beta thalassemia carriers showed thalassemic blood pictures and elevated HbF and F-cell number without increase in the HbF/F-cell content. Association of this gene complex with a second beta thalassemia trait gives rise to a mild clinical picture characterized by 9-12 g/dl of mainly HbF in peripheral blood and no transfusion requirement. In two families, independent segregation of the HPFH or beta-thal trait was observed, and in one case the study of the DNA polymorphisms within the gamma delta beta gene cluster indicated that the HPFH mutation lies outside that DNA region. In one family the coexistence of a polymorphic variant of the A gamma chain (the A gamma T chain) allowed us to demonstrate that the increased gamma chain synthesis caused by the heterocellular HPFH determinant is directed by both chromosomes.

Adolescent↗
PubMed1984

Molecular heterogeneity of beta thalassaemia in the Italian population.

Fifty-one subjects originating from Southern Italy and affected by Cooley's anaemia have been studied in order to define the degree of heterogeneity of beta thalassaemia mutations in this high incidence area. Restriction endonuclease mapping has been carried out on genomic DNA by the Southern blot technique both to exclude the existence of gross deletions or rearrangements and to establish the relative frequency of four polymorphic restriction sites (i.e. G gamma and A gamma Hind III, beta Ava II and beta Bam HI) within the gamma delta beta gene region. In 28 subjects unequivocal linkage of the four polymorphic sites has been determined leading to the identification of seven different chromosome haplotypes, six of which had previously been reported associated with specific beta(0) and beta(+) thalassaemia mutations. Globin chain synthesis studies on peripheral blood reticulocytes indicated that subjects carrying the same genotype may behave differently as far as the beta chain production is concerned relative to both the alpha and the non-alpha chains. Thus, beta thalassaemia turns out to be quite heterogeneous even in this limited geographical area. Beta(+) mutations appear to be predominant, particularly those affecting nuclear precursor RNA splicing to mature beta globin mRNA.

Chromosome Mapping↗
PubMed1984

Association of heterocellular HPFH, beta(+)-thalassaemia, and delta beta(0)-thalassaemia: haematological and molecular aspects.

An Italian family in which heterocellular hereditary persistence of fetal haemoglobin (HPFH) interacts with both beta(+)- and delta beta-thalassaemia is described. The index case was an 8 year old girl who was presumed to inherit both heterocellular HPFH and beta (+)-thalassaemia from her mother and delta beta-thalassaemia from her father. She was healthy and never needed blood transfusions. The possible contribution of heterocellular HPFH to the less severe expression of the compound delta beta/beta(+)-thalassaemia heterozygosity is discussed. By DNA analysis the specific delta beta-thalassaemia defect on the gamma delta beta globin gene region has been established. In addition, a previously unreported association of a polymorphic restriction site haplotype with a beta (+)-thalassaemia mutation has been observed.

Adult↗
PubMed1983

Hemoglobin Maputo: a new beta-chain variant (alpha 2 beta 2 47 (CD6) Asp replaced by Tyr) in combination with hemoglobin S, identified by high performance liquid chromatography (HPLC).

During a routine hematological investigation, a slowly-moving hemoglobin variant was detected in a 2-year-old child from Maputo (Mozambique) in combination with hemoglobin S. Structural studies carried out by HPLC demonstrated a previously unreported amino acid substitution, beta 47 (CD6) Asp replaced by Tyr. The new hemoglobin variant has been named hemoglobin Maputo.

Amino Acid Sequence↗