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51.
52.
CG B?nnemann J Wong C Ben Hamida MB Hamida F Hentati LM Kunkel 《Canadian Metallurgical Quarterly》1998,8(3-4):193-197
Four of the currently recognized autosomal recessive limb-girdle muscular dystrophies (LGMD type 2C-F) are caused by mutations in the genes encoding components of the sarcoglycan complex. LGMD 2C, caused by mutations in gamma-sarcoglycan, is prevalent in northern Africa, especially in Tunisia, where this type of muscular dystrophy was originally described. Although the disease initially was assumed to be genetically homogeneous in this region, linkage to the alpha-sarcoglycan locus (LGMD 2D) has also been found. We have now identified the first Tunisian family with beta-sarcoglycanopathy (LGMD 2E), further adding to the genetic heterogeneity of autosomal recessive LGMD in this population. Direct sequencing of the beta-sarcoglycan gene revealed a homozygous mutation (G272-->T, Arg91Leu) in exon 3. This change affects the same arginine residue in the immediate extracellular domain of the protein that was mutated to a proline (G272-->C, Arg91Pro) in a Brazilian family with a severe form of the disease. Immunohistochemical analysis for the sarcoglycan complex demonstrates absence of the known components of the complex in both of these families. We postulate that the immediate extracellular domain of beta-sarcoglycan may be important for the assembly and/or maintenance of this complex, potentially mediated by disulfide-bond formation to another sarcoglycan via the single cysteine residue in that domain. 相似文献
53.
We report the case of a 77-year-old man admitted nine days after being commenced on azathioprine with symptoms initially thought to be secondary to sepsis but in fact due to azathioprine hypersensitivity. He developed histologically proven cutaneous leucocytoclastic vasculitis following the re-introduction of azathioprine. We review the literature concerning adverse reactions to azathioprine and the problems of making the diagnosis as well as highlighting azathioprine as a novel cause of leucocytoclastic vasculitis. 相似文献
54.
L Dawson CG Schaar PH de Meijer AE Meinders 《Canadian Metallurgical Quarterly》1998,142(32):1826-1829
A women aged 36 with a positive family anamnesis for autoimmune endocrine diseases and a history of thyroid diseases, developed major complaints of general malaise, orthostatic hypotension and loss of appetite after the start of a treatment with levothyroxin because of (sub)clinical hypothyroidism. She was found to suffer from primary adrenocortical insufficiency masked by excessive use of liquorice and a lowered metabolism, but which via the suppletion with thyroid hormone had led to an addisonian crisis. 相似文献
55.
Ninety-two patients with Dukes' class C colonic carcinoma, divided equally into those who survived 5 years or more and those surviving less than 5 years after resection for cure, underwent evaluation of multiple histopathologic characteristics of the primary tumor and the uninvolved regional lymph nodes. These characteristics were analyzed by the chi-square test for correlation with survival. A statistically significant correlation (P less than 0.05) in the group who survived 5 years or more was observed for Broders' grades 1 and 2, tumor not involving serosa, and a pushing tumor margin. Of the 14 patients who had a pushing tumor margin and tumor not involving serosa, 12 (86%) survived 5 years or more. Seven patients had an infiltrating tumor margin and peritumor venous invasion, and of this group, only one (14%) survived 5 years or more. Histopathologic characteristics of host immune reaction at the tumor or in the uninvolved regional lymph nodes did not correlate with survival. 相似文献
56.
CG Fellin G Briani G Baggio E Manzato R Veronese 《Canadian Metallurgical Quarterly》1977,26(4):593-602
The prevalence of coronary artery disease (CAD) and peripheral artery disease (PAD) was studied in 280 (203 males, 77 females) patients with different types of primary hyperlipoproteinemia. In primary hyperbetalipoproteinemia the prevalence of CAD (45% for Type IIa and 47% for Type IIb) is significatly higher than that in the other types of hyperlipoproteinemia (38% for Type IV and 17% for Type V). On the other hand, PAD prevalence is much higher in hypertriglyceridemia (21% in Type IIb and 20% in Type V) than in hypercholesterolemia alone (9% in Type IIa). These results suggest ths atherosclerotic complications are concerned. Moreover, the high frequency of PAD found in hypertriglyceridemia can be related to the high occurrence of diabetes in these patients. The effects of other major risk factors of atherosclerosis (smoking and hypertension) were also evaluated. Our results indicate that the association of hypercholestolemia and hypertension is more dangerous than the co-occurence of hypercholesterolemia and smoking. 相似文献
57.
The enzyme ornithine decarboxylase (L-Ornithine carboxy-lyase, EC 4.1.1.17), has been partially purified from the livers of mice subjected to partial hepatectomy (6-8 h previously). Mouse liver ornithine decarboxylase requires pyridoxal phosphate, and dithiothreitol for maximal activity. The enzyme has a pH optimum of 7.3, it is inhibited in the presence of 0.3 M phosphate, glycine, Tricine and Tris. It shows no dependence on metal ions and is inhibited by high salt concentrations, particularly ammonium salts. The kinetics of the enzyme have been studied with putrescine (and analogs), spermidine and spermine, in the presence of both high and low levels of pyridoxal phosphate. High concentrations of pyridoxal phosphate inhibit the enzyme. The enzyme is also inhibited by low concentrations of putrescine (1 mM). As the concentration of putrescine increased to 10 mM, non-competitive inhibition was observed, this could be reversed by addition of higher levels of pyridoxal phosphate. Spermidine and spermine inhibit (noncompetitively) only at high concentrations (10 mM). Ornithine inhibits at high concentrations (2 mM). Spectral studies have shown that the observed kinetics of competitive inhibition at low concentrations of polyamine changing to noncompetitive inhibition at high polyamine concentrations are due to competition between enzyme and substrate (or inhibitor) for free (non-enzyme bound) pyridoxal phosphate. Noncompetitive inhibition arises through the formation of transient Schiff base complexes between amines and free pyridoxal phosphate. It also appears that the binding of substrate to the active site takes place through Schiff base formation with enzyme bound pyridoxal phosphate. 相似文献
58.
CG Watson 《Canadian Metallurgical Quarterly》1976,31(5):611-616
Eighty-four geriatirc ward patients were randomly assigned to groups targeted for outplacement planning or inpatient care. During the following year, half of the former were placed in community settings while nearly all of the latter remained in the hospital. Neither the physical health, level of self-care, or psychiatric condition ratings of the two groups changed differentially over that time. However, the mean Morale Inventory score of the outplacement sample improved while that of the in-patient group remained static. Additional analyses were run between three groups - outplacement planning subjects who were released, those who were not released, and inpatient planning men who were not released. These results confirmed those of the first analyses; the only significant difference appeared on the Morale Inventory, the patients who left showing more improvement than the other two groups. The results argue for an increased emphasis on outplacement programs among geriatric patients. 相似文献
59.
60.
The occurrence and distribution of adrenergic and acetylcholine esterase (AChE) positive nerves in the human urethra and urinary bladder were studied histochemically with the fluorescence method of Falck and Hillarp, and the copper thiocholine method of Koelle and Friedenwald. Both types of nerves were mainly confined to the layers of smooth muscle cells in the walls of the organs. In all parts of the urethra, there was a scanty supply of adrenergic nerves. Few adrenergic nerves were also found in the urinary bladder, except in the trigone area, where they were abundant. AChE-positive nerves were uniformly and richly distributed in the urinary bladder. Throughout the urethra the distribution of AChE-positive nerve fibres was uniform, but the number was clearly less than in the urinary bladder. No intrmurally located adrenergic or AChE-Positive ganglion cells could be demonstrated. 相似文献