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141.
A chromosomal breakage syndrome with profound immunodeficiency 总被引:5,自引:0,他引:5
The chromosomal breakage syndromes--ataxia-telangiectasia, Fanconi's anemia, and Bloom's syndrome--are associated with growth failure, neurologic abnormalities, immunodeficiency, and an increased incidence of malignancy. The relationship between these features is unknown. We recently evaluated a 21-year-old female with more severe chromosomal breakage, immunodeficiency, and growth failure than in any of the mentioned disorders. As of November 1985, the patient remains clinically free of malignancy. At age 18, the patient's weight was 22.6 kg (50th percentile for seven years), height was 129 cm (50th percentile for eight years), and head circumference was 42 cm (50th percentile for six months). Laboratory studies demonstrated a marked decrease in both B and T cell number and function. The peripheral blood contained 400 to 900 lymphocytes/microL with 32% T11 cells, 17% T4 cells, and 21% T8 cells. The proliferative responses to phytohemagglutinin (PHA), pokeweed mitogen, and concanavalin A were less than 10% of control. There were 1% surface IgM positive cells, and serum IgG was 185 mg/dL, IgM 7 mg/dL, IgA 5 mg/dL. In lymphocyte cultures stimulated with the T cell mitogens PHA, phorbol ester, and interleukin 2, 55% of the banded metaphases demonstrated breaks or rearrangements. The majority of the breaks involved four fragile sites on chromosomes 7 and 14, 7p13, 7q35, 14q11, and 14q32. These are the sites of the genes for the T cell-antigen receptor and the immunoglobulin heavy chain and are sites of gene rearrangement in lymphocyte differentiation. Epstein-Barr virus stimulated B cells and fibroblast cultures also demonstrated a high incidence of breaks, but the sites were less selective. These findings suggest that the sites of chromosomal fragility in the chromosomal breakage syndromes may be informative and that factors other than the severity of the immunodeficiency or the high incidence of chromosomal damage may contribute to the occurrence of malignancy in the chromosomal breakage syndromes. 相似文献
142.
Does a Physician's Attitude toward a Patient with Mental Illness Affect Clinical Management of Diabetes? Results from a Mixed‐Method Study
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Lisa C Welch Heather J Litman Christina PC Borba Brenda Vincenzi David C Henderson 《Health services research》2015,50(4):998-1020
ObjectiveTo determine whether physician’s attitudes toward patients with comorbid mental illness affect management of a chronic disease.ConclusionsResults are consistent with common stereotypes about people with serious mental illness. Vignettes did not include intentional indication of unreliable reporting or danger. Reducing health care disparities requires attention to subtle aspects of managing patients—particularly those with atypical affect—as seemingly slight differences could engender disparate patient experiences over time. 相似文献
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146.
Thyrotoxicosis in children: thirty years''experience 总被引:3,自引:0,他引:3
Optimal treatment for thyrotoxicosis remains controversial in adults, but more so in paediatric practice. We have conducted a retrospective review of the records of 76 paediatric patients seen between 1965 and 1995 to determine management practice and outcome of therapeutic interventions. Seventeen are currently on antithyroid drug (ATD) treatment, while four have had their care transferred. Of the remaining 55, 21 (38%) achieved long-term remission with ATD alone following a mean treatment duration of 3.3 y (range 0.5-7 y). Block-replacement (high dose of ATD with thyroxine replacement) was more convenient than the titration regimen (3.4+/-0.3 visits to hospital per year versus 6.1+/-0.4, p<0.001). Surgery (subtotal/total thyroidectomy) was carried out in 27 patients, of whom 24 subsequently became hypothyroid and were treated with thyroxine. I131 was used successfully in six patients, two following surgery. ATD should remain the first-line therapy; a block-replacement regimen is more convenient. Surgery in a specialized centre carries a low risk. Caution should still be exercised in the use of I131 in young children. 相似文献
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AA Hutchison JA Wozniak H-G Choi RA Otto RM Abrams PC Kosch 《Acta paediatrica (Oslo, Norway : 1992)》1994,83(3):241-248
Laryngeal and pump muscle activities are important in the establishment and maintenance of functional residual capacity (FRC) after birth. The aim of this study was to determine the expiratory mechanisms by which laryngeal and diaphragmatic activities achieve the increments in FRC postnatally. Wire electrodes were placed in: the laryngeal abductor, a major laryngeal adductor, the inferior pharyngeal constrictor and the diaphragm of six fetal sheep. The lambs were delivered prematurely by cesarean section and a face mask with a pneumotachograph applied. A grunting respiratory pattern was characterized by severe expiratory airflow retardation, associated with laryngeal adductor activity. In grunting breaths, minimal volume loss at end-expiration and incremental increases in FRC occurred when the onset of diaphragmatic activity preceded the onset of laryngeal muscle activities associated with laryngeal opening. Thus the timing order of laryngeal and diaphragmatic muscle activities near end-expiration is a determinant of increments in FRC. 相似文献
149.
Features of both systemic lupus erythematosus and scleroderma developed in a young Chinese girl while on multiple anticonvulsant therapy. These were reversed after withdrawal of the drugs. Readministration of ethosuximide for control of epilepsy caused a relapse with predominant sclerodermatous features. These clinical signs again resolved after ethosuximide withdrawal. 相似文献
150.
Rath TJ Sundgren PC Brahma B Lieberman AP Chandler WF Gebarski SS 《Neuroradiology》2005,47(3):183-188
Subependymomas are benign intraventricular tumors with an indolent growth pattern, which are usually asymptomatic, and most commonly occur in the fourth and lateral ventricles. When symptomatic, subependymomas often obstruct critical portions of the cerebrospinal fluid (CSF) pathway, causing hydrocephalus, and range from 3 cm to 5 cm in size. We report a case of an unusually massive subependymoma of the lateral ventricles treated with subtotal resection, ventriculoperitoneal shunt, and post-surgical radiation. The clinical course, radiographic and pathologic characteristics of this massive intraventricular subependymoma are discussed, as well as the differential diagnosis of lateral ventricular masses and a review of the literature concerning subependymomas. 相似文献