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Biomedical subjects

J R Seely

Publications and source records attributed to J R Seely.

At least 19 recordsLinked to original sources
PubMed1984

Localized chromosomal mosaicism as a cause of dysmorphic development.

Regional chromosomal mosaicism has been found in tissue from the clitoral mass of an infant presenting with ambiguous genitalia. Chromosome analysis of skin from the clitoral mass was interpreted as 46,XX/52,XX, +2, +7, +8, +12, +13, +20, whereas study of ovarian tissue and peripheral lymphocytes found each to have normal 46,XX karyotypes with no indication of mosaicism. We believe that somatic cell mutation led to a hyperdiploid clonal cell line resulting in maldevelopment of this patient's external genitalia. This observation, which to our knowledge has not been previously reported, indicates that localized chromosomal abnormalities in some cases may be etiologic of isolated congenital malformations.

Clitoris↗
PubMed1981

1-Deamino-8-D-arginine vasopressin and urine cyclic adenosine monophosphate excretion in diabetes insipidus.

The response to 1-deamino-8-D-arginine vasopressin (DDAVP), an intranasally administered analogue of vasopressin, was investigated in children and adults with central diabetes insipidus. To assess the action of DDAVP on the distal nephron, cyclic adenosine monophosphate (cAMP) excretion was assayed in urine collected 4 hr before and during four subsequent 4-hr periods after intranasal administration of 5 micrograms DDAVP. Maximal effects on urine volume and concentration were observed between 4 and 12 hr, coinciding with an elevated cAMP excretion in seven subjects. The pretreatment 4-hr cAMP excretion (micrograms/gm creatinine) correlated inversely with age (p less than 0.02) and surface area (p less than 0.001). Subsequent cAMP excretion after DDAVP increased inconsistently with no relationship to duration of antidiuresis, indicating that urinary cAMP is a poor index of antidiuretic hormone action on the distal nephron. We also confirmed that DDAVP intranasally induces antidiuresis in patients with diabetes insipidus over approximately 12 hr.

Adolescent↗
PubMed1979

Combined oral L-dopa and propranolol for growth hormone provocation.

A convenient test of growth hormone (GH) provocation using oral doses of L-dopa and propranolol (L + P) is compared with insulin-induced hypoglycemia (IIH) in 28 children and adolescents with short stature. In eight of these children, growth hormone deficiency was diagnosed when GH failed to rise above 7 ng/ml. The GH levels of the remaining GH-responsive children were significantly higher after administration of L + P (P less than .05) when compared with IIH given before L + P on the same morning or on a separate day.

Child↗
PubMed1978

Turner's syndrome: index case after 44 years (a tribute to Dr. Henry H. Turner).

Forty-four years after Dr. Henry Turner's original observations, the index case of Turner's syndrome was re-examined. Mild hypertension and sensorineural deafness were found in addition to the classic somatic changes of gonadal dysgenesis. Buccal smear examination and chromosome analysis, previously not performed, revealed absence of chromation bodies and 45,X, respectively.

Cheek↗
PubMed1977

Sleep patterns in growth hormone deficient children and age-matched controls: developmental considerations.

Ten patients with isolated growth hormone (GH) deficiency and 13 age-matched normal controls were studied. All patients were below the 3rd percentile in height and weight. All but 1 subject were studied for 3 or 4 consecutive nights in the sleep laboratory which included monitoring of the EEG, EOG, EMG, and EKG. GH samples were taken during sleep in 6 of the 10 patients. There were no significant differences in the slow-wave sleep (SWS) parameter between the 2 groups, nor was there any difference when all growth hormone patients were compared to controls. The age group comparisons for the percent of rapid eye movement (REM) sleep parameter revealed a significant difference between GH and controls for the youngest group only (p less than 0.05). Similar results were obtained when the GH subjects were grouped according to bone age. A significant decline in SWS was found with increasing chronological age (p less than 0.02), while the REM parameter did not show any significant changes across age categories. None of the patients showed a sleep-related peak in GH secretion. These data are not compatible with the hypothesis of a monotonic relationship between SWS and GH secretion.

Adolescent↗
PubMed1975

Giemsa banding of chromosome 1gh+ and linkage analysis.

A four-generation transmission of 1qh+ chromosome was ascertained by routine chromosome analysis of a mildly dysmorphic and retarded 61/2-year-old female. Concordance between synophrys and the 1qh+ marker was the only consistent phenotypic relationship. The variant chromosome did not appear uncoiled, and Giemsa centromeric staining (C-bands) revealed an increased width of the heterochromatin commensurate with the increased length of the long arm. Giemsa banding of the entire chromosome (G-bands) revealed two heterochromatin bands, identical in appearance, in the centromeric region with the remainder of the chromosome showing normal banding. The distribution of Duffy blood groups in the pedigree was consistent with the locus being on chromosome No. 1.

Blood Group Antigens↗