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Biomedical subjects

A Carnevale

Publications and source records attributed to A Carnevale.

At least 109 records · Page 6Linked to original sources
PubMedDate not supplied

[Synergism of bromodeoxyuridine and mitomycin C in the production of chromosomal aberrations in Fanconi's anemia].

Synergism of BrdU and MMC on the production of chromosome aberrations in lymphocytes of patients with Fanconi's anemia (FA) was studied. With this purpose, the lymphocytes of an FA patient and of a normal subject were cultured and exposed to BrdU and to MMC in 6 different experiments. The results showed no synergism of these two agents in normal cells. However FA cells exposed to BrdU and MMC showed an increased frequency of aberrations suggesting synergism. Furthermore the chromosome damage produced by MMC was significantly increased by the presence of BrdU in the medium. These results support the hypothesis of a defect of DNA repair in FA cells.

Anemia, Aplastic↗
PubMedDate not supplied

[Use of the direct capping technic in lymphocytes for the detection of women carrying the Duchenne type muscular dystrophy].

Duchenne muscular dystrophy (DMD) is a progressive X-linked recessive condition. The detection of female carriers is important for genetic counseling but no precise method is available in our country. Based on the demonstration by other authors of an impaired lymphocyte "capping" in DMD patients and carriers, we evaluated the usefulness of this method in the detection of DMD carriers. Nineteen control subjects, 9 obligate carriers, 6 DMD patients, and 10 probable carriers, were studied. The analysis of variability intra and interobserver of the results of "capping" showed variation coefficients of 17% and 19%, respectively. The comparison of groups (F test) showed no difference between controls, obligate carriers and DMD patients. When a diagnostic value of 30 was chosen, we obtained 78% specificity and 40% sensitivity. It was concluded that, under the conditions of this study, we were unable to demonstrate a diminished lymphocyte "capping" in DMD patients and carriers as compared with normal subjects.

Adult↗
PubMedDate not supplied

[A new syndrome of mental retardation and chromosomic instability in 3 siblings].

We report on three brothers with mental retardation, microcephaly and prominent ears whose cytogenetic studies showed no fragile X. However, an elevated frequency of spontaneous chromosome aberrations compared with that in normal individuals was found. The chromosome aberrations included acentric fragments, rings, dicentrics and radial figures. The lymphocytes did not show an increased sensitivity to mitomycin C nor to gamma radiation. It is suggested that this is a new hereditary syndrome of mental retardation with chromosome instability, probably recessive X linked.

Child↗
PubMedDate not supplied

[Management of patients with phenylketonuria in Mexico].

This paper shows the results of the dietary management of 9 children with phenylketonuria diagnosed at the Clinic for Inborn Errores of Metabolism of the Hospital del Niño-Instituto de Investigaciones Biomédicas UNAM. The age at which the diet was instituted was variable: in one case before the age of 8 weeks; in another one at 5 months and in the remainder after 10 months. The management is multidisciplinary and involves a geneticist, a pediatrician, a neurologist a psychologist, a nutritionist, and a social worker. In spite of the difficult control of the diet in some patients, in most cases satisfactory phenylalanine levels were maintained most of the time. The body growth and development have been normal. With regard to the mental development, the results support the importance of an early diagnosis since the case treated from the age of one month has shown normal development; the patient diagnosed at 5 months has had a low normal IQ and the rest, all diagnosed after 10 months of age, show some improvement, but do not reach normal levels. The need of neonatal screening for early diagnosis is emphazised.

Administration, Oral↗
PubMedDate not supplied

[Cloverleaf cranial anomaly. Report of 2 cases].

Two cases of cloverleaf anomaly are presented. The first one was associated to complete spina bifida and flexion of elbows and knees, and the second to syndactyly of 3rd and 4th fingers of both hands; short, broad and swerved thumbs; rudimentary bilateral preaxial polydactyly, pes varus with broad first metatarsus. Authors agree with the opinion that this anomaly is a sign which may occur in disorders with early craniosynostosis and emphasise the importance of the identification of the underlying disorder because, knowing its pattern of inheritance, a proper genetic advice may be rendered. The neurosurgical procedure can be useful for cosmetic purposes and for encephalitic decompression, but the results are somewhat unsatisfactory because of the severity of the defect.

Abnormalities, Multiple↗