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M Carrera

Publications and source records attributed to M Carrera.

99 records · Page 6Linked to original sources
PubMedDate not supplied

Prenatal diagnosis in Rett syndrome.

BACKGROUND/AIM: Rett syndrome (RTT) is an X-linked neurodevelopmental dominant disorder that affects almost exclusively girls. The disease is mainly sporadic, caused by de novo mutations at MECP2 gene (Xq28), but a low percentage of familial cases have been reported. We present the results of RTT prenatal diagnosis in three families and discuss the usefulness of such analyses in diseases caused mainly by de novo mutations. METHODS: For adult individuals, DNA was extracted from peripheral lymphocytes; for fetus analysis it was obtained from cultured amniotic fluid or from chorionic biopsy specimens. Mutation detection at MECP2 gene was first carried out in the patients by SSCP/HD analysis and subsequent sequencing. Family studies and prenatal diagnoses were done by direct analysis of previously characterized patients' mutations using SSCP/HD or restriction analysis. RESULTS: Heterozygous mutations identified in the 3 patients were: 1061del96bp, 473C-->T, and 763C-->T, respectively. Mutations were not present in the mothers' DNAs obtained from peripheral lymphocytes. None of the 3 fetuses analyzed carried the mutation of the affected sister. CONCLUSIONS: Recurrence within RTT families can be due to asymptomatic nonpenetrant carrier mothers or to parental germinal mosaicism for the MECP2 mutation. Since germline mosaicism can neither be predicted nor detected, families with 1 affected patient whose RTT-causing mutation has been previously identified can benefit from prenatal diagnosis which contributes to a decrease in the recurrence risk in a new pregnancy comparable to that of the normal population.

Chromosomal Proteins, Non-Histone↗
PubMedDate not supplied

Clinicopathological correlations and prognostic factors in lupus nephritis.

OBJECTIVE: To define prognostic factors at the moment of the diagnosis in lupus nephritis, and to assess the contribution of renal histologic data. PATIENTS AND METHODS: Sixty-two patients with systemic lupus erythematosus (SLE) and histologic evidence of nephritis were studied for renal outcome. Correlations between clinical or biological and histological data were carried out as an indicator of the utility of the renal biopsy. RESULTS: There were no significant differences in creatinine between the different histologic classes at the moment of the diagnosis, although the WHO classification correlated well with proteinuria and immunologic activity. There was a strong correlation between clinical and histological activity as measured by the activity index in proliferative glomerulonephritis, mainly with creatinine and proteinuria, but not with haematuria or immunological activity. Young age at the time of renal biopsy, proliferative classes III and IV, and the chronicity index were associated with a poorer renal prognosis. CONCLUSIONS: High immunologic activity, mainly elevated anti-DNA titers and decreased levels of CH100, is highly suggestive of proliferative glomerulonephritis. Proliferative classes III and IV and high chronicity indexes are associated with a worse prognosis in lupus nephritis.

Adolescent↗