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31.
Abstract. Gordon, B. A., Carson, R. and Haust, M. Daria (Departments of Biochemistry, Paediatrics and Pathology, the Children's Psychiatric Research Institute, and the University of Western Ontario, London, Ontario, Canada). Unusual clinical and ultrastructural features in a boy with biochemically typical mannosidosis. Acta Paediatr Scand, 69: 787, 1980.—A 4½-year-old boy with a history of recurring respiratory tract infections and seizures, and evidence of severe retardation of psychomotor development and growth, lacked the coarse facial features, skeletal changes and other clinical stigmata generally associated with mannosidosis, but the total α-mannosidase activity in his leukocytes, cultured fibroblasts and liver were no more than 10% of the control mean. Studies of the residual α-mannosidase enzyme suggest a specific deficiency of the thermostable isoenzyme with an acidic pH optimum. The α-mannosidase in the fibroblasts of our and another (control) patient with mannosidosis had a reduced affinity for the substrate 4-methylumbelliferyl-α-D-mannoside. Light micros-copy of the liver biopsy showed an increase in connective tissue often distorting the hepatic architecture; numerous tiny vacuoles, small dense and lipid bodies in most hepatocytes, and similar but more extensive changes in sinusoidal cells; and sinusoidal pools of hepatocytic debris. Electron microscopy of hepatocytes revealed vacuoles similar but not identical to those described in reported mannosidosis patients, and in addition several forms of secondary lysosomes; prominent peroxisomes (microbodies); increased numbers of profiles of smooth endoplasmic reticulum; dilated rough endoplasmic reticulum containing traces of fine granulo-fibrillar material; increased numbers of rosettes of α particles of glycogen and reduced numbers of mitochondria with alterations in their distribution, size and configuration. It is believed that the usual clinical and hepatic ultrastructural features in our patient reflect another variant of mannosidosis. 相似文献
32.
A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening 总被引:1,自引:0,他引:1
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33.
The basal ganglia occupy a commanding place in neuroscience research, in clinical neurology and in biomedical education. The paucity of our understanding of the role of the basal ganglia in normal everyday life combined with our more extensive knowledge of their deficiencies in a variety of clinical syndromes is a potent spur to continuing investigation. That some of these neurodegenerative syndromes—such as Parkinson's disease—are already common only heightens the need for insight in the face of a population with increasing expectations of longevity. About a decade ago an explosion of information on the connectivity and immunocytochemistry of forebrain structures gave rise to concepts which have shaped the fabric of basal ganglia theory—‘patch and matrix’, ‘disinhibition’, ‘parallel circuits’. Some of these ideas seemed to facilitate an understanding of the basal ganglia, others to render them more complex and impenetrable. Perhaps unsurprisingly, the work of the last decade has tended towards consolidation and refinement. However, several new developments are receiving attention, many of them related to disorders of the basal ganglia. The realisation that some forms of Parkinson's disease have a genetic determinant is gaining strength. The molecular biology of the dopaminergic synapse on the one hand and of the production of insoluble proteins on the other will clearly influence future research into therapeutic options and neuroprotection. The importance of apoptosis, neural plasticity and free radical formation remains unresolved but these are potential areas of promise. Meanwhile, scanning techniques for brain imaging are allowing real time investigation of the working striatum in normal and disordered humans and animals. We believe that the time is opportune for a broad review of current thinking on the basal ganglia in health and disease. The following articles are based on presentations given at a Symposium on the Neurobiology of the Basal Ganglia held at Glasgow University in July 1999 as part of the Summer Meeting of the Anatomical Society of Great Britain and Ireland. The invited speakers were chosen to be wide ranging and contributions encompassed evolution, circuitry and receptors of the basal ganglia, striatal remodelling after dopamine loss, striatal functioning in humans with Huntington's disease and in primate models after midbrain fetal transplants, and the genetics of basal ganglia disorders. Short presentations and posters of current results supplemented the main presentations and some are also included amongst these reviews. 相似文献
34.
REBECCA A. ADAMS PhD CHERYL GORDON MS RD ALICE A. SPANGLER PhD RD FADA 《Journal of the American Dietetic Association》1999,99(8):962-966
The purposes of this study were to compare the stress experienced by mothers of children with feeding disorders to the stress experienced by mothers of children with other childhood disabilities, to compare the stress experienced by mothers of children who are tube-fed with that of mothers of children with disabilities who do not require tube feeding, to ascertain the types of stressors that mothers in both groups experience, and to determine their coping resources. Subjects were mothers of children with disabilities who had recently been discharged or were receiving outpatient care from a private rehabilitation facility in a Midwestern city. The Short Form of the Questionnaire on Resources and Stress instrument and open-ended questions developed by the researchers were used. Results were analyzed using analysis of variance. Results indicate that mothers of children requiring tube feeding experienced significantly greater stress than mothers of children with disabilities who do not require tube feedings. Mothers of children requiring tube feeding also receive less support from family and friends. To assist dietitians, other health care professionals, and university instructors in developing family-centered treatment programs, we recommend including fathers, friends, or relatives in the care and feeding process; discovering ways to include the tube-fed child in family mealtime activities; increasing public awareness of tube-feeding issues; organizing support groups; and educating dietetics students about the unique stresses experienced by mothers of children who are tube-fed. 相似文献
35.
ALLISON ROSE JONATHAN OSBORNE GORDON WRIGHT VIRGINIA BILLSON 《Journal of Medical Imaging and Radiation Oncology》1991,35(2):145-147
Specimen radiography is already established as an essential adjunct to excisional biopsy of mammographically detected abnormalities. Two methods of specimen sectioning following the initial specimen radiograph are described. The techniques were devised to identify the lesion accurately in the specimen for subsequent pathological analysis. They have been tailored to suit the differing facilities at two Breast Screening Centres. The methods highlight the desirability of a cooperative multidisciplinary approach to the management of breast disease. They underline the importance of radiological localization of the lesion; not only for the surgeon, but also for the pathologist. 相似文献
36.
LIBERATO A. IANNONE M.D. THOMAS M. BROWN M.D. WILLIAM J. WICKEMEYER M.D. RANDOLPH R. ROUGH M.D. MARK D. MCGAUGHEY M.D. DAVID F. GORDON M.D. 《Journal of interventional cardiology》1990,3(1):11-14
From 1980 to 1985, 1,179 patients underwent percutaneous transluminal coronary angioplasty (PTCA) for the first time. Of these, 92 (7.8%) underwent a second PTCA, 25 (2.1%) a third, and 5 (0.4%) a fourth PTCA of the same vessel and site of the initial stenosis. Success rates for these groups were 78%, 87%, 88%, and 100%, respectively. The left anterior descending coronary artery (LAD) was involved in 14 (56%), the right coronary artery (RCA) in 9 (36%), and the circumflex coronary artery (CX) in 2 (8%). There were no deaths or emergency surgery due to the third and fourth PTCA. Follow-up after the last PTCA indicated symptomatic relief and an improvement in Canadian Cardiovascular Society functional class (CAHA) along with an increase in the exercise time on a standard Bruce stress test. We conclude that a third or fourth PTCA provides a safe and effective therapy for recurrent stenosis. 相似文献
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38.
GORDON WW 《The Journal of mental science》1948,94(394):118-132
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40.
JAMES R HEBERT ScD MSPH CARA B EBBELING PhD IRA S OCKENE MD YUNSHENG MA MD LINDA RIDER MS RD PHILIP A MERRIAM MSPH JUDITH K OCKENE PhD GORDON M SAPERIA MD 《Journal of the American Dietetic Association》1999,99(5):544-552
OBJECTIVE: To assess the effectiveness of a dietitian-based nutrition counseling and education program for patients with hyperlipidemia. DESIGN: A 4-session program implemented as a complement to a randomized physician-delivered intervention. SUBJECTS/SETTING: From 12 practice sites of the Fallon Clinic, 1,162 subjects with hyperlipidemia were recruited, 645 of whom had data sufficient for our primary analyses. INTERVENTION: Two individual and 2 group sessions conducted over 6 weeks. MAIN OUTCOME MEASURES: Total and saturated fat levels; serum low-density lipoprotein cholesterol levels; and body weight, measured at baseline and after 1 year. STATISTICAL ANALYSES: Multiple linear regression was used to evaluate changes in outcome measures. RESULTS: After 1 year, there were significant reductions in outcome measures for subjects attending 3 or 4 nutrition sessions vs subjects attending fewer than 3 sessions or those never referred to a nutrition session. Reductions (mean +/- standard error) in saturated fat (measured as percent of energy) were 2.7 +/- 0.5%, 2.1 +/- 0.5%, and 0.3 +/- 0.1%, respectively. These reductions correspond to roughly a 22% relative change from baseline in those attending 3 or 4 sessions. Corollary reductions were observed for total fat (measured as percent of energy): 8.2 +/- 1.4%, 5.0 +/- 1.4%, and 0.7 +/- 0.4%; low-density lipoprotein cholesterol: 0.48 +/- 0.11 mmol/L, 0.13 +/- 0.11 mmol/L, and 0.02 +/- 0.03 mmol/L; and body weight: 4.5 +/- 0.9 kg, 2.1 +/- 0.8 kg, and 1.1 +/- 0.2 kg. The specified changes were additive to those of the physician-delivered intervention. APPLICATIONS/CONCLUSIONS: This investigation provides empirical data demonstrating the effectiveness of a dietitian-delivered intervention in the care of patients with hyperlipidemia. 相似文献