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L Cristina

Publications and source records attributed to L Cristina.

5 recordsLinked to original sources
PubMed2000

Multiple endocrine neoplasia type 2A. Study of a family.

INTRODUCTION: Pheochromocytomas (Pheo) can occur sporadically, isolated or in association with other neuroendocrine lesions. In multiple endocrine neoplasia type 2A (MEN-2A), Pheo is associated to medullary thyroid carcinoma (MTC) or its precursor, C-cell hyperplasia (CCH) and parathyroid hyperplasia. Genetic screening provides early diagnosis and preventive treatment. In order to validate DNA analysis as a reliable method of early identification of gene carriers, we compared the results of genetic screening with clinical, biochemical, imaging and pathological findings in the members of an affected family. POPULATION AND METHODS: The diagnosis of a bilateral necrotic Pheo in a female patient led to the study of a family with four generations, aged 3 to 78 years (mean = 30.3 yrs). The study included a clinical examination; basal and pentagastrin stimulated calcitonin values; urinary catecholamines and their metabolites; serum calcium and a genetic study (direct sequence of PCR products from genomic DNA isolated from leucocytes using specific primers in exon 11 of the RET protooncogene of chromosome 10). The radiologic study, gammagraphic study (131I-MIBG) and magnetic resonance study were performed in members with clinical suspicion of Pheo. RESULTS: Seven out of nine patients had a mutation on codon 634 of exon 11 of RET (TGC-CGC), leading to cysteine arginine substitution in the codified protein; all gene carriers had biochemical markers of MTC/CCH and four of Pheo. The Pheo patients underwent adrenalectomy (bilateral in three) and all the gene carriers underwent prophylactic thyroidectomy. The pathologic findings were: MTC in four (metastasized in one); CCH in three and parathyroid hyperplasia in one. CONCLUSIONS: Phenotypic penetration of RET mutation was 100% for MTC/CCH, but only 57% of the gene carriers had Pheo. Genetic screening allowed early prophylactic treatment in four out of seven patients; pathologic findings revealed several evolutionary stages of the disease. Patients not yet showing Pheo are under close clinical and laboratory surveillance.

Adolescent↗
PubMed1993

Analysis of phosphate kinetics in hemofiltration and hemodiafiltration: formulation of an efficiency index.

The kinetics of phosphate (P) during a treatment of hemofiltration or hemodiafiltration follows a simple exponential law, and P in 90 min reaches a stationary level that remains constant until the end of the treatment. The theoretical compartmental model cannot be estimated by a dialytic treatment, but a simpler diffusive model may be considered. Once the stationary level is reached, the net flux of P from the inaccessible compartments to the accessible compartment may be estimated via the parameters obtained in the exponential model. Hemodiafiltration seems more efficient than hemofiltration in determining P clearance. Thus an efficiency index that accounts for the period in which P is eliminated from the accessible compartment has been formulated.

Hemofiltration↗
PubMed1992

Cerebral granular cell tumors: report of a case and a note on their nature and expected behavior.

A case of cerebral granular cell tumor (GCT) is reported. Histologically, the growth was composed of benign astrocytes, granular cells and transitional forms between both elements. Glial fibrillary acidic protein was detected in the glial component and, to a lesser extent, in the granular cells. Alpha-1-antichymotrypsin was demonstrated in the latter component only. Ultrastructural study also supported the evidence that neoplastic astrocytes became granular cells. The survey of the literature and our own results suggest that GCTs in this particular location, even when histologically benign, seem to have a worse prognosis than the low-grade supratentorial astrocytomas.

Astrocytes↗
PubMedDate not supplied

[Conservative treatment of breast cancer. Experience of the Consultation Group of Breast Oncology of the Santa Maria Hospital].

Since 1983, the Oncology Breast Group Consultation of the H.S.M. has been practicing a Conservative Treatment in women with early stage breast carcinoma. So far, 61 women stages I and II, were submitted to Conservative Treatment, which consists of limited Surgery, followed by Radiotherapy. 20 patients had performed associated systemic therapy, because they presented axillary positive lymphnodes. 10 of there were pre-menopause and they had performed Chemotherapy and the other 10 were post-menopause receiving Hormonotherapy. Of the 61 patients that constitute this series, two had local failure; two had hepatic metastasis and another two had secondary neoplasms. The remaining 55 are in good condition. In 54 patients with follow-up superior to 3 month oesthetical evaluation revealed excellent results in 26 cases, good in 24, medium (fair) in 6, middling in one and bad in 4. Follow-up varies between 3 months and 6 years, and it is not possible to present results of 5 years survival because almost all patients have a follow-up of less than 2 years.

Adult↗