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Biomedical subjects

K L Jones

Publications and source records attributed to K L Jones.

At least 289 records · Page 16Linked to original sources
PubMed1976

Fetal alcohol syndrome. Experience with 41 patients.

Forty-one patients with the fetal alcohol syndrome, including 11 whose cases were previously reported, were studied. These children have a pattern of defects including prenatal and postnatal growth deficiency, small head size with mental subnormality, and facial abnormalities allowing for recognition of the disorder in infancy. The same pattern of abnormalities has been independently reported from France in a series of 127 offspring of chronic alcoholics.

Abnormalities, Drug-Induced↗
PubMed1976

The 2p partial trisomy syndrome. Duplication of region 2p23 leads to 2pter in two members of a t(2;7) translocation kindred.

Strikingly similar abnormalities were present in two severely retarded children, an 8-year-old boy and a 12-year-old girl, who were first cousins once removed. Dysmorphic features included high bulging forehead with frontal upsweep of hair, flat, wide glabella and nasal bridge, maxillary hypoplasia, ptosis, dacryostenosis, dolichostenomelia, hyperextensible fingers with subluxation in proximal interphalangeal joints, hypoplastic external genitalia, and overconstriction of the shafts of all long bones. Both patients had unbalanced karyotypes, with duplication of the distal third of the short arm of chromosome 2, resulting from the same balanced reciprocal translocation prestne in both mothers: der (2), t(2;7)(p23;q36)mat. Seven additional translocation carriers were identified in four generations of this kindred.

Abnormalities, Multiple↗
PubMed1976

Familial Felty's syndrome.

A family is described in which the mother and 2 of the 5 children had Felty's syndrome, a pattern of inheritance suggesting a dominant defect and one which has not previously been reported. The family is also of interest in that the other sib had rheumatoid arthritis.

Aged↗
PubMed1976

Studies of human diploid fibroblast growth. I. Responses of normal and hypopituitary cells to fibroblast growth factor, insulin, and serum.

We have assayed the growth stimulating activity of bovine insulin, fibroblast growth factor (FGF), and fetal bovine serum (FBS) in diploid human fibroblasts from normal and idiopathic hypopituitary donors. All three factors stimulated DNA synthesis in cells arrested by serum starvation. FGF was active at concentrations as low as 5 ng/ml with maximum effect at 100 ng/ml. FGF stimualted DNA synthesis at lower concentrations than did insulin and also produced a greater maximum response. Only serum was capable of supporting cell division and growth, but FGF accellerated this growth rate when it was added to serum-containing medium. Hydrocortisone, actinomycin D, and cycloheximide inhibit FGF stimulation. There was no significant difference between fibroblasts from normal and hypopituitary donors.

Animals↗
PubMed1975

The fetal alcohol syndrome.

A specific pattern of malformation involving prenatal-onset growth deficiency, developmental delay, craniofacial anomalies, and limb defects is now recognized in offspring of chronic alcoholic women. Historical evidence suggests that this is not a new observation. A recent French study of 127 offspring of alcoholic mothers indicates that this specific syndrome has been recognized in other parts of the world. Many of the features of this disorder could be related to the kind of malorientation of brain structure seen at the autopsy of one patient described herein. The frequency (43%) of adverse outcome of pregnancy for chronic alcoholic women suggests that serious consideration be given to early termination of pregnancy in severely chronic alcoholic women.

Abnormalities, Drug-Induced↗
PubMed1975

The Williams elfin facies syndrome. A new perspective.

Evaluation of 19 patients with the Williams elfin facies syndrome, in order to more completely delineate the total spectrum of the disorder, indicates that "infantile hypercalcemia, peculiar facies, supravalvular aortic stenosis" designation which was heretofore used is inappropriate. Only 32% of the patients have evidence of supravalvular aortic stenosis and not one of them has had documented hypercalcemia, including eight patients who had a serum calcium determination in the first year of life. Rather, the most consistent features are growth deficiency which is predominantly of postnatal onset, mild microcephaly with mental deficiency, and an altered pattern of facial development which includes short palpebral fissures, a stellate pattern in the iris, medial eyebrow flare, a depressed nasal bridge with anteverted nares, and thick lips. The disorder is a sporadic occurrence of unknown etiology.

Adolescent↗
PubMed1975

Older paternal age and fresh gene mutation: data on additional disorders.

Older paternal age has previously been documented as a factor in sporadic fresh mutational cases of several autosomal dominant disorders. In this collaborative study, an older mean paternal age has been documented in sporadic cases of at least five additional dominantly inheritable disorders; the basal cell nevus syndrome, the Waardenburg syndrome, the Crouzon syndrome, the oculo-dental-digital sysdrome, and the Treacher-Collins syndrome. It was also found to be a factor in acrodysostosis and progeria, suggesting a fresh mutant gene etiology for these two conditions in which virtually all cases have been sporadic and the mode of genetic etiology has been unknown.

Age Factors↗
PubMed1975

Pituitary fibroblast growth factor as a stimulator of growth in cultured rabbit articular chondrocytes.

Growth promoting activity for rabbit chondrocytes has been described as a contaminant of partially pruified TSH and LH prepared from bovine and ovine pituitaries. We have investigated fibroblast frowth factor (FGF), a small growth promoting peptide isolated from bovine pituitary tissue, in a rabbit chondrocyte system. The results suggest to us that FGF is the factor or one of the factors responsible for chondrocyte growth stimulating activity previously described in the pituitary hormone preparations. DNA synthesis in these cells is stimulated by FGF at final medium concentrations of 10(-9) g/ml. Bovine NIH-LH is not stimulatory below concentrations of 10(-7) g/ml. FGF also stimulates cell growth in the presence of 10% fetal bovine serum. Dexamethasone, at concentrations of 10(-5) to 10(-9) g/ml exerts a synergistic effect with FGF on both DNA synthesis and cell growth. Over a concentration range of 10(-6) to 10(-9) g/ml, FGF does not stimulate synthesis of sulfated mucopolysaccharides.

Animals↗