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Biomedical subjects

K L Jones

Publications and source records attributed to K L Jones.

At least 235 records · Page 13Linked to original sources
PubMed1985

Imparied calcitonin secretion in patients with Williams syndrome.

Williams syndrome is associated with neonatal hypercalcemia of unclear pathogenesis. To learn more about the hormonal control of calcium metabolism in patients with Williams syndrome, we studied five such children, with intravenous calcium and parathyroid hormone infusions as provocative stimuli. These patients were found to have significantly higher mean baseline calcium concentrations, delayed clearance of calcium after intravenous calcium loading, and blunted calcitonin responses after calcium infusion, compared with a group of seven normal children. No abnormalities of vitamin D metabolite concentrations were found, either before or after parathyroid hormone stimulation. Our studies demonstrate that patients with Williams syndrome have a defect in the synthesis or release of immunoreactive calcitonin. A deficiency of calcitonin may explain the abnormalities of calcium metabolism seen in these patients and can serve as an important endocrine marker for Williams syndrome.

Calcitonin↗
PubMed1985

A developmental approach to the classification of birth defects.

Surgeons are accustomed to categorizing the birth defects they treat surgically according to morphology rather than pathogenesis. Commonly used classification systems fail to take into account the cause or developmental pathology of a given structural defect. Furthermore, surgeons often select operative procedures without considering the evolution of specific defects. Dysmorphology is a fairly new discipline that seeks a better understanding of the cause and pathogenesis of birth defects, not only to ensure optimum treatment but also to encourage prevention of birth defects.

Abnormalities, Multiple↗
PubMed1985

Early tongue resection for Beckwith-Wiedemann macroglossia.

Dentists are aware of the extraordinary influence an active thrusting tongue can have on dental development. In the presence of the profound muscle hypertrophy characteristic of macroglossia in the Beckwith-Wiedemann syndrome, a compelling need exists for surgical reduction of the tongue as early in life as possible. This report describes our clinical experience with 3 children, 1 referred late and the other 2 treated within the first year of life.

Beckwith-Wiedemann Syndrome↗
PubMed1985

Identification of gonadotropin-releasing hormone in neurons of a hypothalamic hamartoma in a boy with precocious puberty.

We have studied a 3 1/12-year-old boy who presented with a hypothalamic mass and precocious puberty. His history suggested a course of isosexual precocity progressing from birth. Gelastic seizures also began at an early age. Endocrine evaluation revealed normal thyroid-stimulating hormone and growth hormone secretion, elevated basal and stimulated prolactin concentrations, and luteinizing hormone responses to sequential intravenous injections of gonadotropin-releasing hormone (GnRH) that were pubertal in pattern and magnitude. A needle biopsy of the mass recovered tissue that contained neurons histologically similar to those found in the normal hypothalamus, and the mass was characterized as a hypothalamic hamartoma. Immunohistochemical staining of this tissue with anti-GnRH antiserum demonstrated positive staining for GnRH immunoreactivity in neurons. This suggests a neurosecretory pathogenesis for the precocious puberty found in patients with hamartomas in the hypothalamic region.

Biopsy, Needle↗
PubMed1984

Hypopituitarism in association with postaxial polydactyly.

We report four patients, three boys and one girl, with polydactyly and hypopituitarism. All patients had postaxial polydactyly and subnormal growth hormone responses to standard provocative stimuli. Three of these patients had a family history of polydactyly and few other abnormalities. The remaining patient had a major malformation syndrome including a CNS hamartomatous tumor and early death; this patient had no family history of polydactyly. We believe that the association of postaxial polydactyly with hypopituitarism and possible CNS hamartomatous tumors is an important clinical consideration in the evaluation of children with suspected growth hormone deficiency.

Abnormalities, Multiple↗
PubMed1984

Apnea and sudden unexpected death in infants with achondroplasia.

Thirteen infants with achondroplasia and sudden unexpected death or unexplained apnea were discovered through nonsystematic retrospective case collection. Most were initially thought to have died from sudden infant death syndrome. However, historical and pathologic findings suggest that many of these infants had apnea and sudden unexpected death secondary to acute or chronic compression of the lower brainstem or cervical spinal cord. Infants with achondroplasia evidently are at considerably increased risk for such deaths between 1 month and 1 year of age. Appropriate intervention, given these previously unrecognized risks, may include cervical restraint, polysomnographic evaluation, and apnea monitoring.

Achondroplasia↗
PubMed1984

McCune-Albright syndrome (fibrous dysplasia) associated with an orbital tumor.

Craniofacial fibrous dysplasia has rarely been described in the polyostotic form of McCune-Albright disease. The unique ophthalmic features of interest in this patient with McCune-Albright's disease was the presence of an orbital tumor that suddenly increased in size compressing the optic nerve. Prompt excision of the tumor resulted in restoration to normal vision.

Child↗
PubMed1983

The nature of structural defects associated with velamentous and marginal insertion of the umbilical cord.

Previous studies have documented an increased incidence of structural defects in association with velamentous and marginal insertion of the umbilical cord. Evaluation of 4,677 consecutive placentas at the University of California (San Diego) Medical Center revealed 454 marginal insertions and 72 velamentous insertions. An increased incidence of structural defects was found only in association with a velamentous cord insertion. Delineation of the structural defects according to their developmental pathogenesis revealed that the majority were due to deformation of a normally formed part. These data and the finding of a disproportionate number of twins with a velamentous insertion suggest that competition for space at the implantation site leads to both the velamentous insertion of the cord and the associated structural defects.

Abnormalities, Multiple↗
PubMed1983

The sequence of RNA segment 1 of influenza virus A/NT/60/68 and its comparison with the corresponding segment of strains A/PR/8/34 and A/WSN/33.

The complete nucleotide sequence of RNA segment 1 of influenza virus A/NT/60/68, corresponding to the PB2 protein, has been determined. It is 2341 nucleotides long, encoding a predicted product of 759 amino acids with a net charge of +27 1/2 at neutral pH. The predicted amino acid sequence has been compared to the equivalent sequences in influenza viruses A/PR/8/34 and A/WSN/33. Evolutionary divergence, assuming a direct lineage from A/PR/8/34 and allowing for "laboratory drift", is 0.08% per year. The alignment of RNA segment 10 of A/NT/60/68 with segments 1 and 3 is completed, confirming that it is a mosaic of regions from these two segments.

Amino Acid Sequence↗
PubMed1983

The Börjeson-Forssman-Lehmann syndrome.

Recently we evaluated a Saudi Arabian family in which a severely affected male and a more mildly affected set of monozygotic (MZ) female twins had manifestations of the Börjeson-Forssman-Lehmann syndrome including short stature, hypotonia, mental deficiency, coarse facial appearance with a prominent brow-ridge, and large ears. We present clinical, radiographic, electroencephalographic, and endocrinologic data to further delineate this condition and set forth the manifestations of two normal, presumably heterozygous, females.

Abnormalities, Multiple↗