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The Roussy-Lévy syndrome (MIM #180800) was described in 1926 as a disorder presenting with pes cavus and tendon areflexia, distal limb weakness, tremor in the upper limbs, gait ataxia and distal sensory loss. We report a family with affected members in four generations, showing these clinical signs of Roussy-Lévy syndrome and a partial duplication at chromosome 17p11.2. This genetic defect is commonly found in patients with the hypertrophic form of the Charcot-Marie-Tooth syndrome. Our finding provides evidence against the Roussy-Lévy syndrome as a distinct entity but suggests a close relation with the Charcot-Marie-Tooth syndrome. What causes the additional features of gait ataxia and essential tremor needs further clarification. 相似文献
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Photovoltaic (PV) cells, when integrated within a building facade, offer the possibility of generating electric power and heat for local use or export. This paper reports on a project to investigate the practical operational efficiencies that might be delivered from such facades. The results from laboratory experiments and computer simulations are presented: the former were used to develop an empirical relationship between cell temperature and power output; the latter were undertaken to assess operational efficiencies under a range of climate conditions representative of the UK. 相似文献
45.
H Moffet CL Richards F Malouin G Bravo G Paradis 《Canadian Metallurgical Quarterly》1994,75(4):415-426
The efficacy of an early, intensive, supervised rehabilitation program to accelerate knee strength recovery in the first 3 weeks postmeniscectomy by arthroscopy was evaluated using a randomized controlled trial design. The maximal voluntary isokinetic strength of 31 men, randomly allocated to either a treatment (EXP) or a control (CTL) group, was measured twice by a blind rater: preoperatively (pretest) and 3 weeks postsurgery (posttest), using a computer-controlled Kin-Com dynamometer (Chattecx Corporation, Chattanooga, TN). Strength deficits of the operated leg at the pretest and posttest were established in percent of the values obtained for the sound leg at the pretest. In the interval between the surgery and the posttest, the patients of the EXP group (n = 15) received nine supervised treatments combined to home exercises whereas patients of the control group (n = 16) had no specific physiotherapy treatment but were given instructions in postsurgical management and prescribed exercises by the orthopedic surgeons. Patients of the EXP group had better knee extensor strength recovery than patients of the CTL group (ANCOVA, p < 0.001). The size of the strength difference (3 weeks postsurgery) between EXP and CTL subgroups (n = 8) matched according to preoperative deficits was as large as 26% and the residual deficits of the untreated patients were two to three times larger than those of the treated patients. The results of this study highlight the importance of instituting an early intensive and supervised rehabilitation program, especially for workers returning to a strenuous job requiring good knee extensor muscle function. 相似文献
46.
A Rodriguez P Sarda C Nessmann P Boulot JP Poisson CL Leger B Descomps 《Canadian Metallurgical Quarterly》1998,179(4):1063-1070
OBJECTIVE: The aim of the study was to characterize n-3 and n-6 fatty acid delta5- and delta6-desaturase activities and their time course variations in human fetal liver between the 17th and 36th gestational week. STUDY DESIGN: Twenty-one biologic samples were obtained after legally approved medical abortion, according to French law. The desaturase activities were measured in the 21 liver samples by a radiochemical method by means of reverse-phase high-performance liquid chromatography. The fatty acid composition (percentage by weight) of liver phospholipids was assessed in 16 samples by gas-liquid chromatographic analysis. RESULTS: Both delta5- and delta6-desaturase activities were significantly expressed between the 17th and 36th gestational weeks. During the second trimester n-6 fatty acid delta5- and delta6-desaturase activities showed opposite patterns of variation; both then remained stable between the 25th and 36th weeks. Delta6-desaturation was higher in n-3 than n-6 fatty acids and peaked at the 18th gestational week. The percentages of linoleic and docosahexaenoic acids in liver microsomes were positively correlated with the gestation age (P < .01), whereas arachidonic acid remained stable. CONCLUSION: Significant n-3 and n-6 delta5- and delta6-desaturase activities are expressed in human fetal liver as early as the 17th gestational week and are stable throughout the third trimester. Their theoretic capacity evaluated from in vitro measurements appears lower than polyunsaturated fatty acid requirements and is not directly related to liver microsomal membrane fatty acid composition. 相似文献
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Splenomegaly is uncommon in myelodysplasia (MDS) and, although cytopenias may be severe, therapeutic splenectomy is rarely performed. We report the histologic, histochemical, and immunophenotypic findings of nine cases of surgical splenectomy and four postmortem spleens from MDS patients. Four histologic patterns were identified: one dominated by erythrophagocytosis, one characterized by red pulp plasmacytosis, one with extramedullary hematopoiesis as the only salient finding, and one with marked red pulp expansion caused by a monocytic proliferation. Wright-Giemsa and histochemical stains were performed on touch preparations in three cases and played a critical role in the precise subclassification of one MDS patient's hematologic disorder, which ultimately proved to be chronic myelomonocytic leukemia. Splenectomy led to sustained improvement of cytopenias in three cases, but did not eliminate transfusion dependence for the remaining patients. Three splenectomy cases exhibited clustered Leder-negative mononuclear elements: two of these patients experienced disease progression to refractory anemia with excess blasts in transformation or acute myelogenous leukemia during post-splenectomy follow-up, whereas none of the three splenectomy patients without clustered mononuclear elements did. We conclude that splenomegaly in MDS usually reflects the sequelae of dyspoiesis rather than evidence of a proliferative phase, that clustering of Leder-negative large cells may correlate with either a substantial monocytic component or, possibly, increased risk of disease progression, and that the spleen can provide diagnostic as well as prognostic information in MDS patients with splenomegaly. 相似文献
49.
G Cantù N Pizzi F Mattavelli P Salvatori L Licitra CL Solero 《Canadian Metallurgical Quarterly》1998,18(3):135-142
This article introduces the basic principles of reading electrocardiograms (ECGs) for nurses who are unfamiliar with reading them. For more experienced practitioners there are a number of useful articles and books (e.g. Hampton, 1992a, b) that will help further their knowledge. The ECG records cardiac electrical activity as a graph; interpretation is illustrated here by sinus rhythm. A single ECG lead (lead II) is used throughout this article. Atrial fibrillation is described to show a contrasting dysrhythmia. Specific nursing care is suggested for patients being monitored or having ECGs taken. 相似文献
50.
B Davies D Clarke S Connaughty K Cook B MacKenzie J McCormick M O'Loane C Stutzer 《Canadian Metallurgical Quarterly》1996,22(6):500-507
Interviews with 25 nurses in this grounded theory study show that when nurses recognized that a child's death was inevitable, they struggled with both grief distress and moral distress. Their distress occurred within the context of the nurse-patient relationship. Nurses employed a range of strategies to manage their distress. Several conditions facilitated or constrained nurses' strategies, and resulted in far-reaching implications both professionally and personally. 相似文献