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Biomedical subjects

A Peralta

Publications and source records attributed to A Peralta.

28 records · Page 2Linked to original sources

[A new concept for the training of odontological human resources].

This article describes different aspects, and particularly those of the academic-administrative structure of the Dentistry Program in the Health Sciences Faculty of Universidad Católica "Madre y Maestra," in the Dominican Republic. It presents a general account of the University's approach to the problems of health, and of the events leading up to the establishing of the Program, the basis on which this was done, the theoretical framework in which the curriculum is embedded, and the methodological principles applied. It also gives a detailed description of the curriculum, including the general and specific objectives, the structure and organization, and the modules comprised in each academic year. Finally, the teaching-learning, service, and research activities, and an account of the resources available for the conduct of the Program are reviewed in brief.

Curriculum↗

[Thrombocytopenia-absent radius syndrome (author's transl)].

A patient affected with thrombocytopenia and bilateral absence of radius is described. Authors present data suggesting an acquired etiology: intrauterine cytomegalovirus infection and X-ray exposure during the ovulatory period. Patient showed some radiological features not previously described: methacarpian synostosis and absence of sternum ossification centers. Anemia was etiologically related to the iron deficiency secondary to bleeding. Chronic diarrhea, a feature common in this syndrome, was caused by cow's milk protein intolerance, other causes of chronic diarrhea, like pancreatic malfunction or disaccharidal intolerance were discarted. Finally comments on the differential diagnosis of the illness, its' evolution and treatment, pointing out the possibility of an intrauterine diagnosis, crucial for a correct genetic counselling are made.

Abnormalities, Multiple↗

[Partial 10q trisomy (q24;q ter) caused by a balanced maternal translocation t(6;10)(q26;q24)].

Authors have had the opportunity to study a patient affected by a malformative syndrome with severe motricity and mental retardation. Physical findings (namely: spacious forehead, flat and round face, small palpebral fissures, hypotonicity and growth retardation) are similar to the phenotype previously described in trisomy 10q. Chromosomal diagnosis failed until G, Q and R banding technique was applied. With this technique a partial 10q trisomy (q24 leads to q ter) due to a maternal translocation t(6:10)(q26;q24) was found.

Abnormalities, Multiple↗

[9p trisomy syndrome. Two new cases (author's transl)].

Two cases of trisomy 9p, are reported affecting different break points involving chromosome 9; one of them showed skeletal abnormalities of importance. An analysis of the two cases reported is done and some of the last hypothesis in order to determine genetical and clinical correlations of the syndrome are considered.

Abnormalities, Multiple↗

Partial trisomy 14q.

A dysmorphic female born with partial trisomy of the proximal segment of the long arm of chromosome 14 had 47 chromosomes. The extra one was acrocentric, smaller than the D group, and bigger than the G-chromosome group. By GTG banding it was identified as a deleted chromosome 14, the karyotype being 47,XX,+del 14(q24). Chromosome analysis of the parents was normal.

Abnormalities, Multiple↗

[Turner's syndrome (author's transl)].

Twenty cases of Turner's syndrome are presented. Ten cases showed cariotype XO, nine XO/XX and one case showed mosaicism with three cell lines one of which showed a ring chromosome (XO/XX/XXr). The clinical characteristics of syndrome and the associated malformations are appraised. Commentaries are made about ultimate height attained by this patients.

Biopsy↗