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Biomedical subjects

L Iris

Publications and source records attributed to L Iris.

At least 19 recordsLinked to original sources

Expression of the human nephron differentiation molecules in renal cell carcinomas.

The authors tested frozen sections from 28 renal cell carcinomas (RCC)--21 clear, 1 eosinophilic, 4 basophilic, and 2 spindle-shaped cell type--with monoclonal antibodies (MAb) reacting against cytokeratin, vimentin, CD24, CALLA/CD10, villin, CD26, and HLA class I and class II molecules. These molecules are markers of specific segments of the mature kidney, and their loss or acquisition reflects the different steps of human nephrogenesis. KI67 MAb was used to evaluate cell-proliferating activity. All RCC cases expressed cytokeratin. Coexpression of vimentin was observed in 21 of 28 cases. Whether of clear or chromophilic type, all tumoral cells strongly expressed CD24 molecule, present on primitive blastema cells. All clear-type RCCs expressed CALLA/CD10 and 60% were also villin positive; some were faintly positive for CD26. CALLA, villin, and CD26 were not detected in basophilic cell type. HLA class I molecules were variably expressed in almost all cases, but HLA class II were never detected on tumoral cells. Except for the spindle-shaped population, cell-proliferating activity was low. These results favor the hypothesis that RCCs derive from cells that have 'recovered' the different options of metanephric differentiation. Clear cells show evidence of maturation toward proximal type, while basophilic cells do not. It would be of interest to evaluate the usefulness of serum measurements of villin and/or CALLA as markers in clear cell-type RCC.

Aged

Partial androgen receptor deficiency and mixed gonadal dysgenesis in Drash syndrome.

Drash syndrome associates a nephropathy characterized by a diffuse mesangial sclerosis of early onset, Wilms tumor, and male pseudohermaphroditism (MPH). A patient with Drash syndrome is reported with the following: karyotype 46,XY, external genitalia near normal female, mixed gonadal dysgenesis, severe androgen receptor deficiency demonstrated for the first time in this syndrome. The possibility of a common genetic denominator with the del 11p13 WAGR complex is suggested. MPH/nephroblastoma association is common. Androgen receptor deficiency has been observed in one case of each syndrome, respectively.

Disorders of Sex Development

[Multinodular goiter in children].

Multinodular goiter is rare in children. This study analyses the different clinical aspects of this disease. All of the 17 patients underwent surgery. The majority of them were euthyroid. Three had congenital hypothyroidism. In 2 cases, bilateral thyroidectomy had to be performed because of hyperthyroidism which occurred either in the observation period prior to surgery, or 4 years after unilateral thyroidectomy carried out for multinodular goiter.

Adolescent

[A case of trisomy 19 mosaicism (author's transl)].

Trisomy-19 mosaicism was observed in lymphocytes of a newborn male with facial dysmorphism (upward slanting palpebral fissures, pointed nose, short upper lip, prominent antitragus), laryngeal stridor, and leucothrombopenia, and who died on day 13. Autopsy revealed no other major malformation but poor development of the cerebral sulci.

Abnormalities, Multiple

[Inflammatory granuloma of the face with a malignant course. Atypical Hodgkin's disease (author's transl)].

A case of Hodgkin's disease beginning in the skin of the face with local lymph node involvement is reported. This was a lymphogranulomatous form without characteristic Reed-Sternberg cells in skin biopsy specimens, rendering the diagnosis difficult. There was a combination of granulomatous inflammation, plaques of necrosis and lesions of fibrinoid necrosis in the vessel walls. This form entered the classification of clinical Stage IV, with its associated serious prognosis.

Adult

[Primary maxillary location of myoblastoma].

The authors report the case of a myoblastoma with multiple successive and rare localisations: maxilla, cheek, lymphatics, lungs, liver and hyoid bone, with a fatal course over 28 months. They recall the possible malignancy of this tumour even in the absence of histological criteria and suggest its classification on bases which at present are only clinical.

Adult

[Lesions of the right branch of the bundle of His. Clinical, electrocardiographic and histologic study of 33 cases].

The topography and severity of lesions of the right branch of the bundle of His have been studied as a function of the electrocardiographie changes and the associated heart disorder in 33 cases with more than 50% of the fibres destroyed. It appears that lesions of the right branch of the bundle of His, while severe and diffuse in cases of chronic complete right branch block, were severe but localised in 5 of the 6 cases with a stable incomplete right block. Total, subtotal or partial destruction of the right branch of the bundle of His was associated with lesions of the A-V node and/or the main truck of the bundle of His in the five cases with a complete atrio-ventricular block. The lesions of the right bundle branch involved the superior, middle and inferior portions in the case of aortic valve lesions, the middle portion in mitral valve disease, and the inferior portion in those with myocardial infarction. Ventricular hypertrophy seems to play an important in deciding whether the axis of the QRS, complex is left or right.

Bundle of His