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Biomedical subjects

M Lecha

Publications and source records attributed to M Lecha.

At least 19 recordsLinked to original sources
PubMed1995

A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients.

Hepatoerythropoietic porphyria is a severe cutaneous porphyria caused by deficiency of uroporphyrinogen decarboxylase and is considered to be the homozygous form of familial (type II) porphyria cutanea tarda. To elucidate further the relation between these conditions, we studied five Spanish families with hepatoerythropoietic porphyria and nine unrelated Spanish patients with familial porphyria cutanea tarda. Immunoreactive and catalytic uroporphyrinogen decarboxylase was decreased by greater than 95% in the five patients with hepatoerythropoietic porphyria. Hepatic uroporphyrinogen decarboxylase activity was decreased to 22% of normal. Four patients were homozygous for a mutation (G281E) originally identified in a Tunisian family; the fifth patient was a compound heterozygote for this mutation. The calculated carrier frequency for G281E in Spain is one in 1800. None of the nine familial porphyria cutanea tarda patients carried the G281E mutation. However, one G281E heterozygote in a family with hepatoerythropoietic porphyria had overt porphyria cutanea tarda. These findings suggest that the G281E mutation is functionally less severe than erythrocyte measurements indicate, that its clinical penetrance is very low in heterozygotes, and that, for this particular mutation, hepatoerythropoietic porphyria is the homozygous form of familial porphyria cutanea tarda.

Base Sequence↗
PubMed1991

Immunopathologic study of skin lesions in dermatomyositis.

To determine the phenotype of skin infiltrates in affected and uninvolved skin from patients with dermatomyositis, immunohistochemical studies with 10 murine monoclonal antibodies were carried out on 25 skin biopsy specimens. Dermal infiltrates consisted predominantly of HLA-DR-expressing macrophages and T lymphocytes, especially of the CD4 subset. B lymphocytes, as defined by positive staining for Leu-12, were absent. Epidermal Langerhans cells were absent or decreased in some areas of affected skin but the total number was normal. OKT6+ cells were present in some dermal mononuclear infiltrates in close contact with lymphocytes. We observed reduced HLA-DR positivity of dermal capillary endothelia. These findings are apparently different from dermatomyositis muscle infiltrates but are similar to those in skin affected by cutaneous lupus erythematosus. Our observations support the concept that, in autoimmune diseases, cellular infiltrates may be more organ-specific than disease-specific.

Antibodies, Monoclonal↗
PubMed1990

[Kaposi's sarcoma associated with the acquired immunodeficiency syndrome. An analysis of 67 cases with a study of the prognostic factors].

The features and prognostic factors of 67 cases of Kaposi's sarcoma (KS) associated to the acquired immunodeficiency syndrome (AIDS) diagnosed at the Hospital Clinic, Barcelona, are analyzed. All the patients were male; mean age was 39.7 years, ranging from 22 and 62 years. 64 were homosexuals (95.5%), two were homosexual-drug addicts (3%) and one was drug addict (1.5%). Prevalence of cytomegalovirus and herpes virus infections were 91.1% and 89.5% respectively. In 42 cases (62.7%) KS was the initial AIDS presentation. The most common localization was the skin (89.5%), followed by the digestive tract (52.2%) and the lymph nodes (22.4%). Staging distribution was: 20 patients (29.8%) were in stage I, 11 patients (16.4%) in stage II, 7 patients (10.4%) in stage III, and 29 patients (43.2%) in stage IV. Constitutional symptoms associated to KS were found in 37 patients (55%). Overall 39 patients have already died, and the actuarial survival possibility of these 67 cases was 55% after 12 months. Univariant statistical analysis showed the presence of six variables with prognostic significance (p less than 0.05): staging, symptomatology, total white blood count, total lymphocyte count, T helper lymphocyte count and hemoglobin. Multivariant statistical analysis only chose the staging and symptomatology variables as independent (p less than 0.01 and p less than 0.001, respectively).

Acquired Immunodeficiency Syndrome↗
PubMed1988

Subacute cutaneous lupus erythematosus: clinicopathologic findings in thirteen cases.

The clinicopathologic and serologic findings of thirteen patients with subacute cutaneous lupus erythematosus are reported. The clinical and immunologic features are similar to those described by most other authors. From a histologic point of view, however, two aspects could be emphasized: the presence of a larger number of epidermal colloid bodies and severe epidermal necrosis (more than 60% of cases). All patients with this microscopic picture have a similar clinical and serologic pattern: annular lesions, anti-Ro antibodies and human leukocyte antigen-DR3.

Adult↗
PubMed1988

[The concept of cryptic cutaneous atopy in contact reactions. Considerations on the clinical control over the subgroup of patients with frustrated cutaneous atopy].

Contact dermatitis, allergic or irritative, is not distributed by chance among the general population, but appears in a determined group of patients. The clinical and anamnestic picture of this group of patients (and that of their close blood relatives) is described. Clinical facts lead us to consider that group of patients as a subgroup of cutaneous atopy. The medical-legal importance which the acceptance of this type of patient could have on occupational contact dermatitis is pointed out. In contact dermatitis the factors of the person suffering the contact rather than those of the contact agents seem to be of decisive power in the response, although at the present moment, the possibility of carrying out analytical studies on the allergens and irritants is easier than on the patients who react to them.

Dermatitis, Atopic↗
PubMed1988

[Polymorphous light eruption. Study of the infiltrate with monoclonal antibodies].

The lymphocytic infiltrate in ten cases of papular polymorphous light eruption has been studied with monoclonal antibodies. The results show that the infiltrate is mainly formed by T helper-inducer lymphocytes, but T suppressor-cytotoxic cells are also present. Initial data on appearance of OKT6+ cells in the infiltrate are considered.

Adult↗
PubMed1988

[Evaluation of the protection factor (PF) against UV-A in vivo].

Several papers have dealt with evaluation of protection factors against UV-A. There is still no standardized method accepted for this evaluation. Difficulties in the technique are emphasized. The author has assayed the immediate pigment darkening reaction as evaluation for different broad band filter preparations.

Adolescent↗
PubMed1987

[PUVA therapy: long-term degenerative effects. I. Histological changes observed after PUVA therapy].

The authors studied PUVA induced histological alterations in a group of 7 patients compared with 6 control subjects of same age. The epidermal alterations were unprominent: a few necrotic keratinocytes and hyperpigmentation of basal layer melanocytes with a lentiginous pattern. Basement PAS positive membrane was in some cases desestructured, but this was reversible. In the papillary dermis there was homogenization and partial or total destruction of orceinophilic vertical fibers, these phenomena were also reversible. PUVA therapy induced aging of the skin which is dose related and depends also of the patients age. No phenomena of precancerous dysplasia were observed.

Adult↗
PubMed1985

Microscopic abnormalities in the liver of two patients with Porphyria variegata.

In contrast to Porphyria cutanea tarda (PCT), which is characterized by constant hepatic involvement, the liver seems to be unaltered in Porphyria variegata (PV). However, the authors have found microscopic alterations in the liver of 2 patients with PV (mild inflammation and fibrosis of the portal tracts and the presence of iron deposits in one of the cases). Although these changes could be attributed to other causes, the hypothesis of possible liver involvement in PV is not excluded.

Adult↗