Premature menopause in XO-XX-XXX-XXXXX mosaicism.
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Biomedical subjects
Publications and source records attributed to D L Gordon.
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Complement factor H (fH) is a member of a family of proteins involved in the regulation of complement activation (RCA). These proteins share a common structural motif, the Short Consensus Repeat (SCR), which is structurally conserved among related genes and between phylogenetically divergent species. fH is composed of 20 such SCRs and a variety of biological functions have been localised to specific SCR domains. The majority of individual SCRs identified are encoded by single exons, and processes such as gene conversion, duplication and exon shuffling have been implicated in the evolution and genomic radiation of SCR-encoding genes. We have analysed two GenBank sequence entries relating to two overlapping PAC clones sequenced at the Sanger Centre which contain the entire human fH gene and two adjacent fH-related (fHR) genes, fHR-1 and fHR-3. Here, we report the detailed analysis of the assembled 221 kb of contiguous, ungapped genomic sequence from human chromosome 1q32, in part employing the RUMMAGE-DP automated annotation tool. Genomic duplications involving fH and fHR exons were identified and Alu/L1 repeat dating established that the duplications occurred after the separation of rodent and primate lineages. The analysis indicates that retrotransposition as well as single and multiple exon duplication events are likely to have been involved in SCR radiation and RCA gene evolution, facilitated by conservation of splice-phasing and the single-exon, single-SCR nature of the encoded domains.
The characterization of the reactive thiolester bond in the third component of human complement has led to the identification of homologous sites in a number of proteins. In addition to the participation of the C3 thiolester in the opsonic acylation of surface components of microorganisms, new evidence is emerging to implicate thiolester disruption by physiologic nucleophiles, such as ammonia, as a potent mediator of local inflammation in the lung, the kidney, and at endothelial surfaces. Manipulation of the thiolester bonds in these related proteins should permit us to understand, and ultimately to direct, the molecular mechanisms of inflammation.
The Mississippi Stroke Education Consortium (MSEC) is a state-based volunteer advocacy group founded in 1994 consisting of specific policy-setting organizations dedicated to decreasing the impact of stroke on Mississippi's inhabitants through a continuous educational process targeting both laypersons and healthcare professionals.
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OBJECTIVE: To present two new cases of gynecomastia as the initial manifestation of hyperthyroidism. METHODS: We describe detailed case reports of two men with breast enlargement who were found to have hyperthyroidism, and we review the related literature. RESULTS: Two men sought medical assistance because of unilateral tender gynecomastia. In one of these patients, thyroid, gonadal, and prostate examinations showed normal findings at the time of initial assessment, and symptoms of hyperthyroidism developed later. In our other patient with gynecomastia, other symptoms of hyperthyroidism--for example, nervousness, irritability, palpitations, and fatigue--had been present for a prolonged period but had been considered "normal" by the patient. In both patients, the hyperthyroidism was treated with radioiodine. Breast pain disappeared in both patients, and breast enlargement disappeared in one patient and was decreased in the other patient after euthyroidism was achieved. Review of the literature disclosed only two similar cases. CONCLUSION: Because of the rarity of gynecomastia as the initial symptom of hyperthyroidism, we believe that thyroid function tests are not indicated in the workup of patients whose major complaint is gynecomastia.
OBJECTIVE: To describe six cases of thyrotoxic hypokalemic periodic paralysis (THPP) in non-Asian men. METHODS: We present six cases of THPP, including clinical and laboratory findings, treatment, and outcome, and review the related literature. RESULTS: Hypokalemic periodic paralysis is a relatively common occurrence in Asian men with thyrotoxicosis; however, it is unusual in non-Asian patients with thyrotoxicosis. Among our six patients--four Caucasians, one African-American, and one Hispanic--the precipitating factors, initial manifestations, and clinical course varied. In general, treatment with 131 I or potassium eliminated the paralytic episodes. CONCLUSION: THPP needs to be distinguished from nonthyrotoxic hypokalemic periodic paralysis. Although THPP is unusual in non-Asian men, it must be recognized because of the severe and potentially fatal complications, which are reversible with potassium replacement and antithyroid therapy.
OBJECTIVE: To alert physicians about the potential for erroneous laboratory determinations of hormone levels and emphasize the need to assess the overall clinical situation as well. METHODS: We present a case report of a woman with a dramatically increased serum estradiol (E(2)) level on radioimmunoassay and review the studies that led to the conclusion that this laboratory finding did not reflect her true estrogen status. RESULTS: In a 41-year-old woman, an unnecessary surgical procedure was performed because of a falsely increased serum E(2) level and a unilateral ovarian mass. The markedly increased serum E(2) measured by radioimmunoassay was found to be attributable to an IgA lambda that bound to the 125 I-labeled tracer of the assay. CONCLUSION: When repeatedly abnormal hormone levels and the clinical picture seem discrepant, use of a different assay method should be considered.
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Costs of nursing care among hospital units that adopted a professional practice model (PPM) were compared with traditional nursing units. PPM inpatient units used fewer temporary personnel and nursing aides, resulting in similar RN costs but lower total nursing costs. However, PPM operating rooms were more costly, mostly because of the intense use of RNs.
We evaluated the effect of fine needle aspiration biopsy (FNAB) upon the histology of thyroid adenoma and differentiated thyroid carcinoma. When surgery was performed within three months of FNAB, infarction was found histologically in 8/82 (9.8%) of the tumors. It was extensive in four patients, with one patient having no residual neoplastic cells identifiable within the nodule. No infarction was seen in the histologic specimens from patients with similar pathology whose surgery was performed without prior FNAB. These findings confirm previous reports that infarction may be caused by FNAB and can be so extensive as to interfere with the histologic diagnosis.