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Biomedical subjects

H G Nunesmaia

Publications and source records attributed to H G Nunesmaia.

6 recordsLinked to original sources
PubMed1999

[Electroencephalographic modification in Down syndrome].

The frequency of epilepsy in Down syndrome (DS) has been reported in literature varying from 6 to 17%. A typical electroencephalographic (EEG) pattern has not been established for this condition. There is a great variation on EEG abnormalities and most of them are not associated to behavior alterations or neurological signs. The aim of this study was to establish epidemiological and electroencephalographic parameters in institutionalized patients with clinical diagnosis of DS. We studied 77 individuals of both sexes, age ranging from 0-38 years old. The EEG was performed on all the patients; 20.7% had EEG abnormalities and 31.3% of these were epileptic. The non-epileptic patients presented inespecific EEG abnormalities. Therefore, our data did not allow us to propose a typical EEG pattern for DS.

Adolescent↗
PubMed1998

[Genetic and clinical diagnosis of infantile autism].

The main objectives of this study were to characterize the selected variables for a better understanding and diagnosis of infantile autism such as clinical and image findings, diagnostic criteria, frequency of neuropsychiatric disorders in the subjects' families, familial recurrence and occurrence of consangunity between the subjects' parents and between other couples in the family. The sample was composed of 36 subjects of both sexes, in the age group from 1 though 20 years old, members of 35 distinctive families, all of which presenting clinical diagnosis for infantile autism. Mental retardation was clinically observed in all subjects of the sample and convulsion in 27.8%; neuropsychiatric disorders were referred in at least one family member of the subjects (97.14% of the families); recurrent autism in 11.42% grandparents and great-grand-parents (2.86%); abnormal findings in computed tomography scan were observed in three subjects. These results support the suggestion of the multifactorial heredity model with differential threshold fold sex in infantile autism. The clinical evaluation of all infantile autism cases should always appraise the neurological, psychiatric and genetic features.

Adolescent↗
PubMed1978

Dissociation as probable origin of mosaic 45,XY,t(15;21)/46,XY,i(21q).

A patient is described with some features of Down's syndrome and a 45,XY, t(15;21)(15qter leads to 15p13::21p11 leads to 21qter)/46,XY,i(21)(qter leads to cen leads to qter) karyotype. Two mechanisms are proposed for the origin of the mosaicism, one assuming the dissociation of a translocation (15;21) chromosome already present in the zygote, and the other involving a chromatid translocation in a 46,XY zygote. The possible independent origin of the two cell lines is also considered.

Cell Line↗