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C F Salinas

Publications and source records attributed to C F Salinas.

29 records · Page 2Linked to original sources

Active and suppressor T cells: diminution in a patient with dyskeratosis congenita and in first-degree relatives.

Active, total and nonspecific suppressor T cells were studied in a 15-year-old black male with dyskeratosis congenita syndrome, a precancerous mucosal disease, and in 7 siblings and several other relatives in three generations. The propositus and 1 elder sister, products of a second-cousin marriage, died with dyskeratosis congenita. The mother had dermatomyositis, and the maternal grandmother and her sister reportedly had rheumatoid arthritis. Studies of available siblings, father, and grandparents revealed a high incidence of deficiency in number of active and/or suppressor T cells, sometimes severe enough to result in a decrease in total T cells. The patient had many stigmata of precocious aging, as did the sibling who died with the same syndrome. The laboratory data suggest that a defect in cell-mediated immunity, involving mainly or exclusively suppressor T cells, is associated with, and is presumably the cause of, precocious aging; perhaps an abiotrophy in this cell subpopulation results in physiologic aging.

Adolescent↗

Familial occurrence of gastroschisis. Four new cases and review of the literature.

In two unrelated families, there was familial occurrence of gastroschisis. In one family, a boy and girl were affected and there was a family history of stillbirth, abortion, prematurity, and esophageal obstruction. In the second family, two boys were affected and there was a family history of spontaneous abortion, inguinal hernia, and umbilical hernia. The recurrence of gastroschisis, generally considered a sporadic congenital effect, suggests that the condition may be genetic in nature. Furthermore, the pedigree of one of the families suggests that gastroschisis may be a severe expression of umbilical hernia or other abdominal wall defects. Autosomal dominant inheritance with variable expressivity or multifactorial inheritance may explain the occurrence of gastroschisis in the two families. Thus, a family history of abdominal wall defects may increase the risk for gastroschisis.

Abdominal Muscles↗

Oral findings in the Morquio syndrome (mucopolysaccharidosis IV).

The Morquio syndrome is characterized by a specific pattern of platyspondylia, corneal opacities, keratosulfate excretion in the urine, and dental abnormalities. Oral examinations were performed on twelve patients with the condition. The maxillary anterior teeth were widely spaced and flared. The posterior teeth were tapered and had pointed cusp tips. The enamel was of normal hardness, and in some patients the surface was pitted. In roentgenograms, the enamel was less than one fourth its normal thickness but was of normal radiodensity. The prevalence of caries may have been reduced. The hard palates were broad and flat. The dental abnormalities in the Morquio syndrome are of a type that is unique among the group of genetic mucopolysaccharidoses. Our findings therefore support the conjecture that the biochemical defect in this condition is different from that which occurs in the other mucopolysaccharidoses.

Adolescent↗

Periodontosis in sibs.

Periodontosis is an idiopathic degeneration of the periodontium which results in migration and loss of teeth. The disease begins in the regions of the incisors and first molars. Late in the disease, other areas of the dental arches may be involved. The gingivae are not initially inflamed, and there are no associated systemic abnormalities. Local irritants cannot account for the marked alveolar destruction which leads to the tooth loss. Several heritable syndromes and periodontitis also may be associated with alveolar bone destruction. Periodontosis can be differentiated each of these on the basis of negative laboratory tests, lack of associated anomalies, distinctive pattern of bone loss and timing of onset of gingival inflammation. A family in which periodontosis was present in three of six sibs and in which ichthyosis was segregating independently of periodontosis is reported.

Adolescent↗