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E Siris

Publications and source records attributed to E Siris.

25 records · Page 2Linked to original sources

Use of a highly sensitive and specific immunoradiometric assay for detection of human chorionic gonadotropin in urine of normal, nonpregnant, and pregnant individuals.

A highly sensitive and specific two-site immunoradiometric assay (IRMA) for hCG has been developed and applied to the detection of the hormone in the urine of normal nonpregnant and pregnant individuals. The IRMA uses a solid phase coupled monoclonal antibody to the hCG beta-subunit for extraction of hormone from urine. The hCG extracted is then directly quantified by the binding of an affinity purified and radiolabeled rabbit antibody that reacts with the unique COOH-terminal peptide region of the hCG beta-subunit. The assay is capable of reliably and accurately measuring as little as 0.01 ng hCG/ml urine without interference from hLH. Assays of urine from normal men and nonpregnant women of reproductive age indicated that most individuals did not have detectable levels of hCG immunoreactivity, although a minority had minute amounts, with a mean value of approximately 0.01 ng hCG/mg creatinine. In contrast, all normal menopausal women studied had easily detectable levels of hCG immunoreactivity in their urine, with a mean value of 0.123 ng hCG/mg creatinine. A study of the excretion of hCG from three men injected with hormone for treatment of infertility indicated that after the first 24 h, hCG was cleared with a single exponential rate and was detectable to a level of 0.01 ng/ml. Application of the IRMA to measurements of hCG in the urine of two artificially inseminated patients indicated that the method was capable of detecting pregnancy as early as 9 days postovulation. The extreme sensitivity and specificity of the IRMA for urinary hCG in conjunction with the simplicity of assay performance and specimen collection should provide a substantial advantage over currently available methods for detection of early pregnancy and tumor monitoring.

Adult↗

Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)].

Clinical and cytogenetic studies are reported on 13 patients with Wolf-Hirschhorn syndrome. The oldest of the living twelve probands is 24 years of age. Three of these patients had a translocation involving the short arm of chromosome 4, and in one of these the anomalous chromosome was inherited from the father. Another three patients were believed, on the basis of GTG-staining, to have a translocation although the origin of the translocated chromatin could not be identified. In the remaining seven patients the anomalous chromosome appeared to be a simple deletion, although in two cases a translocation could not be ruled out. Cytogenetic studies in these patients suggest that the critical deletion involved in Wolf-Hirschhorn syndrome is within 4p16.

Abnormalities, Multiple↗

Syndromes associated with deletion of the long arm of chromosome 18[del(18q)].

We studied eight persons whose karyotypes demonstrated deletion of a portion of the long arm of chromosome 18. Seven of these persons who showed the typical del(18q) syndrome had a common deletion in band 18q21, most likely band q21.3, and in at least two persons the deletion was interstitial. Another mentally retarded child, dissimilar in appearance, had a more proximal deletion within band 18q12. Two different clinical syndromes resulted from deletions of these different segments of the long arm of chromosome 18.

Abnormalities, Multiple↗

Nosologic and genetic considerations in the aglossy-adactyly syndrome.

A case of the aglossy-adactyly syndrome with a variety of associated anomalies and mental retardation suggests that the disorder may be a more complex dysmorphogenetic syndrome than is currently recognized. It is suggested that at least one and possibly two other conditions presently regarded as nosologically distinct from the aglossy-adactyly syndrome may, in fact, represent the same formal genesis syndrome. Because of the rarity of the condition, the failure to search for minor anomalies in first degree relatives and the lack of careful family histories in most cases, our present understanding of this syndrome is limited although etiologic heterogeneity seems likely.

Abnormalities, Multiple↗

Alendronate in the treatment of osteoporosis: a review of the clinical trials.

Osteoporosis is a highly prevalent disease. More than half of postmenopausal women will experience fractures. Women at high risk (osteoporosis as measured by bone density, low trauma fractures of any type, or certain other risk factors) often require pharmacological therapy. However, surveys show that most women who have recently had fractures are currently not being treated. Recent results from the first megatrial of osteoporosis with >6400 participants, the Fracture Intervention Trial (FIT), have provided important advances in our understanding of osteoporosis and the efficacy of alendronate. The FIT study and other large clinical trials show that alendronate effectively increases bone density, reduces the risk of hip and vertebral fractures by approximately half within the first 12-18 months, and, most importantly, reduces the health consequences of fractures. Alendronate is also effective for preventing bone loss in early postmenopausal women. Thus, alendronate represents an important option for preventing and treating this common and debilitating disease. This article summarizes the wealth of data from FIT and other studies of alendronate in the context of the burden of illness associated with osteoporosis.

Alendronate↗