ISSN:1051-2144    

出版商:OVID    

年代:1992

数据来源: OVID

ISSN:1051-2144    

出版商:OVID    

年代:1992

数据来源: OVID

摘要:

Primary pigmented nodular adrenocortical disease, a rare pituitary-independent, adrenal-dependent cause of the Cushing syndrome, is characterized by: (1) hypercortisolism resistant to suppression by dexamethasone or stimulation by metyrapone or corticotropin-releasing hormone; (2) variable findings on computed adrenal imaging and negative results on computed pituitary imaging; (3) adrenal glands that are small to normal in size and have multiple black and brown nodules and internodular cortical atrophy, and (4) cure with bilateral adrenalectomy (the Nelson syndrome does not occur). Among 88 cases of the disorder, half are not familial and are not associated with other conditions; the remainder are familial (transmitted as a mendelian dominant trait) and commonly associated with unusual conditions such as myxomas (cardiac, cutaneous, and mammary), spotty skin pigmentation (lentigines and blue nevi), endocrine Overactivity (sexual precocity and acromegaly or gigantism), and schwannomas. These conditions constitute a specific syndrome (the Carney complex). Among 40 patients with this syndrome, the distribution of lesions was: cardiac myxoma, 72%; cutaneous myxoma, 45%; mammary myxoma, 42% of female patients; spotty skin pigmentation, 65%; Cushing syndrome, 45%; sexual precocity, 25% of male patients; acromegaly, 10%; and schwannomas, 5%. Recognition of primary pigmented nodular adrenocortical disease is important because it indicates the need to investigate the patient and the primary relatives for the components of the Carney complex, especially cardiac myxoma.

ISSN:1051-2144    

出版商:OVID    

年代:1992

数据来源: OVID

摘要:

Many patients with Paget's disease of bone experience symptoms or complications related to the exuberant bone resorptive activity that characterizes this disease. Medical therapy now provides symptomatic benefit for many patients. As more effective pharmacologie agents become available in the near future, the possibilities of preventing the complications and inducing complete and perhaps permanent remission of this disorder will become reasonable therapeutic objectives.

ISSN:1051-2144    

出版商:OVID    

年代:1992

数据来源: OVID

摘要:

Intraoperative ultrasonography (IOUS) is an accurate imaging technique for the localization of solitary islet cell adenomas. The technique is of particular value in the management of insulinoma, but is also of value in selected patients with gastrinoma. With careful surgical palpation and IOUS, most solitary adenomas are detected. Because of this, invasive preoperative procedures are usually not necessary, although noninvasive localization techniques are still useful to help plan the surgery and define the risks of the operation. IOUS will not detect all tumors in the small number of patients with multiple endocrine neoplasia type 1 and multiple insulinomas. The combination of IOUS and palpation does, however, best identify the extent of the subtotal pancreatectomy required in these patients. In addition to the detection of occult adenomas, IOUS can define the relationship of the adenoma to vital structures. This can facilitate safe enucleation of the tumor.

ISSN:1051-2144    

出版商:OVID    

年代:1992

数据来源: OVID

摘要:

α1-Antitrypsin (α1AT) deficiency is one of the most common inherited disorders of metabolism in the United States and provides a striking example of the impact of an inherited disease on two different patient populations. In adults, progressive destructive lung disease presenting between 25–45 years of age is the most common clinical manifestation of this disorder. In children, α1AT deficiency most often presents as neonatal cholestasis, which progresses to cirrhosis usually before age 8. Although there is overlap in the clinical manifestations in both age groups, the bimodal age distribution remains a remarkable observation in the context that both clinical features result from the same gene mutations. While the α1AT gene is highly polymorphic and α1AT deficiency may result from several different mutations within the α1AT gene, the majority of α1AT-deficient individuals are protease inhibitor type Z. A single base transversion of guanine to adenine altering the amino acid composition of α1AT in a critical area of the molecule is responsible for the α1AT Z variant. The diagnosis of α1AT deficiency is confirmed by a reduced α1AT serum concentration, characteristic isoelectric focusing pattern of the enzyme, and a family study confirming the inheritance of the “deficiency” allele. New techniques for the identification of deficiency alleles include direct DNA sequencing, allele-specific amplification of known mutations utilizing specific oligonucleotides directed to the specific base alterations, and haplotype analysis of DNA restriction fragments. Therapy for the lung disease associated with α1AT deficiency is available in the form of α1AT derived from pooled human sera. Unfortunately, there are no current therapeutic alternatives to liver transplantation in patients with severe liver disease secondary to α1AT deficiency.

ISSN:1051-2144    

出版商:OVID    

年代:1992

数据来源: OVID

摘要:

Cushing's syndrome due to an autonomously functioning adrenal adenoma or to an ACTH-secreting pituitary adenoma can be confidently diagnosed, especially with recent advances in cross-sectional imaging (CT of adrenal, MRI of pituitary) and biochemical testing (IRMA ACTH assay, petrosal sinus sampling, CRH test). The occult ectopic ACTH syndrome remains the major unsolved clinical problem in Cushing's syndrome. Review of 40 cases seen at the NIH and the world literature reveals that occult bronchial carcinoid tumors are the responsible tumor in over half the cases. These tumors are often confused with “pituitary” Cushing's syndrome by classic endocrinologic studies. A diagnostic algorithm is suggested, emphasizing the value of magnetic resonance imaging for detecting small central bronchial carcinoid tumors.

ISSN:1051-2144    

出版商:OVID    

年代:1992

数据来源: OVID

摘要:

The premenstrual syndrome is a constellation of mood, behavioral, and somatic symptoms that occurs in a cyclical pattern linked to the reproductive cycle in women. Most prevalent hypotheses associate the etiology of the disorder to changes in “menstrual cycle” hormones. Recent findings, however, question the validity of this simple hypothesis, and point toward a considerably more complex etiology. The relevant studies examining the association between endocrine changes and the premenstrual syndrome are reviewed in this paper, along with the currently popular hypotheses of the etiology of this distressing and prevalent disorder.

ISSN:1051-2144    

出版商:OVID    

年代:1992

数据来源: OVID

摘要:

Thyroid antibody measurements can be useful in managing patients with Graves' disease, autoimmune thyroiditis, and the polyglandular failure syndromes. Some thyroid autoantibodies appear to be responsible for the disease process, others to be a response to thyroid cell damage. Oligoclonal antibodies appear to be causal, polyclonal antibodies to be a response to thyroid cell injury. Many thyroid antibodies are found in normal people but are clinically significant only when of high affinity and in high titer. The TSH receptor antibody is not found in normal subjects, suggesting an important role for this molecule in the etiology of Graves' disease. The production of “primary” autoantibodies like the TSH receptor antibody may represent the escape of a “forbidden clone” from the normal suppressor mechanisms. The incomplete concordance of Graves' disease in identical twins suggests that both genetic and environmental factors play a role in this disease process. The practical aspects of autoantibody measurement in general and their interpretation are reviewed in some detail.

ISSN:1051-2144    

出版商:OVID    

年代:1992

数据来源: OVID

摘要:

A comprehensive, wide-ranging multi-authored book that looks at both basic and clinical aspects of testicular function and dysfunction. It is reviewed by a specialist in reproductive medicine and by a general endocrinologist (ed.).

ISSN:1051-2144    

出版商:OVID    

年代:1992

数据来源: OVID