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Biomedical subjects

A Tanae

Publications and source records attributed to A Tanae.

At least 55 records · Page 3Linked to original sources
PubMed1988

Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency.

Oligonucleotide probes specific for the deleterious mutations harbored in the P-450(C21)A pseudogene and oligonucleotide probes specific for the corresponding sequences in the B gene were prepared to examine the molecular lesions in the P-450(C21) gene of P-450(C21)-deficient patients. Using these gene-specific probes, we performed Southern blot analyses of genomic DNAs from 11 patients and eight normal individuals. At least one allele of the B gene (the 3.7-kb TaqI fragment) in a patient was inactivated by mutations caused by recombination with the A gene. The A genes in normal individuals and patients seemed to be replaced frequently (i.e., 10/19 individuals) in their 3' portions by B gene sequences. All of these alterations occurred without changing the characteristic length (3.2 kb) of the TaqI fragment of the A gene, a result strongly suggesting that frequent gene conversions and/or intragenic recombinations have happened in the P-450(C21) genes. Densitometric analysis of the autoradiograms from hybridization experiments revealed extensive variation (from one to five copies) in the copy number of the A gene (the 3.2-kb TaqI fragment) whereas that of the B gene (the 3.7-kb TaqI fragment) was relatively constant at two or three copies.

Adrenal Hyperplasia, Congenital↗
PubMed1987

An attempt to assess the replacement dose of human growth hormone in the treatment of growth hormone deficient children.

In 25 patients with hGH deficiency, who had been treated long-term with hGH, the mode of hGH administration was switched from the conventional method (0.3-0.5 IU/kg/week, in two or three divided doses, intramuscularly) to daily subcutaneous injection at 1900-2100 hours with a dose of 0.46 +/- 0.07 IU/kg/week (equivalent to 14.7 +/- 2.0 IU/m2/week). After 1-3 months of this new mode of hGH administration, blood and urine were sampled at 0900 hours after overnight fasting. Blood glucose, plasma insulin, plasma IGF-1 and plasma total IGF (after extraction) were analysed in blood samples. IGF-1 and hGH were measured in urine samples. These measurements indicated that the dose studied was close to a replacement one, but might be slightly higher than the exact replacement dose.

Adolescent↗
PubMed1986

A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C.

We describe a family consisting of 3 affected men with congenital ichthyosis, anosmia, hypogonadism, nystagmus with decreased visual acuity, strabismus, hypopigmentation of the iris, and mirror movements of the hands and feet. Two of them had limitation of ocular movement and unilateral renal agenesis or hypoplasia. The condition appears to be inherited as an X-linked recessive trait. Clinical, pathological, and biochemical evaluations were compatible with a diagnosis of X-linked ichthyosis. Steroid sulfatase and arylsulfatase C activities in leukocytes and fibroblasts were markedly diminished in the affected patients. Their hypogonadism was due to decreased luteinizing hormone-releasing hormone secretion (hypogonadotropic). Hyposecretion of antidiuretic hormone was also recognized. Chromosome analysis of leukocytes and skin fibroblasts revealed a normal 46,XY male karyotype in all of the patients.

Adolescent↗
PubMed1986

High-resolution cytogenetic studies in patients with Prader-Willi syndrome.

We investigated 24 patients with Prader-Willi syndrome by the high-resolution banding technique. Their history and clinical findings were also examined in some detail. Twelve had interstitial deletion of 15q; del(15) (q11.2q13) in 11 cases and del(15) (q11.2q12) in one case. Six revealed normal karyotypes at about 500-850 bands per haploid-set level. In an additional six cases, no deletion was detected. However, we took the results as tentative, as the observed karyotypes were at the 400-bands level. During the course of this study, it was realized that a small deletion in the proximal 15q could be easily overlooked when a mitotic spread around 400-bands or less per haploid-set level was used. There was no distinct difference in the clinical features of patients with interstitial deletion and those with a normal karyotype. Two cases in the latter group lacked some of the typical features of the former group, e.g. poor fetal vigor, neonatal feeding difficulty, hypotonia, and delayed motor development.

Adolescent↗
PubMed1978

[The treatment of patients with diabetes insipidus by a synthetic analogue of vasopressin, DDAVP (author's transl)].

The effects of a synthetic analogue of vasopressin, DDAVP (1-deamino-8-D-arginine vasopressin) were investigated in 98 patients with cranial diabetes insipidus. In all patients, intranasal administration of DDAVP one to three times daily, usually twice daily, was found to be satisfactory in the control of diabetes insipidus. Thus, by DDAVP administration, daily urinary volume changed from 3520 +/- 2150 ml to 1620 +/- 830 ml (mean +/- SD), and urinary osmolarity changed from 126 +/- 75 mOsm/kgH2O to 446 +/- 194 mOsm/kgH2O (mean +/- SD). A daily dose of DDAVP ranged from 2.0 to 20 microgram in children (average dose 12.8 microgram), while 10 to 20 microgram of DDAVP was usually required in adult patients (average dose 14.2 microgram). No serious side effects have been observed. It is concluded that DDAVP is safe and effective in the treatment of cranial diabetes insipidus.

Administration, Intranasal↗