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This report describes 5 out of 8 siblings who were the first cases of myotonia congenita diagnosed in our department. The parents were first cousins. Neither the parents, nor the other family members have myotonia. The affected siblings 4 boys and 1 girl, all showed a very typical myotonia especially after prolonged rest, and it could be worked off with continuing activity. They had a muscular looking body or a herculean proportion. The diagnosis were based upon family history, clinical findings of percussion myotonia, had grip myotania, prominent muscular hypertrophy and confirmed by electromyographic examination revealing myotonic discharges. Since there were some functional impairments, these patients were treated with diphenylhydantoin and then with quinine sulphate, with good results. The patients related parents were much likely to be heterozygous for the same harmful recessive genes, because they had common ancestor. The role of marriage counseling is important in this kind of inherited disease, to prevent the occurrence of this inherited disorder in the next generations. 相似文献
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Mbaidjol Zacharia Stoffel Michael H. Frenz Martin Constantinescu Mihai A. 《Lasers in medical science》2021,36(4):855-862
Lasers in Medical Science - The common limitation of surgical revascularization procedures for severe tissue ischemia due to cardiovascular diseases is the need to interrupt blood flow during the... 相似文献
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Michael P. Keith Chantal Moratz Ryan Egan Athina Zacharia Eric L. Greidinger Robert W. Hoffman 《Autoimmunity》2013,46(3):208-216
Natural Abs and autoantibodies bind antigens displayed by ischemia-conditioned tissues, followed by complement activation and enhanced tissue injury during reperfusion. Anti-ribonucleoprotein (RNP) Ab is associated with lung disease in patients with autoimmune disease but it is not known whether these abs contribute to lung injury. Mesenteric I/R in mice leads to local and remote lung injury. Accordingly, we used this model to investigate whether anti-RNP Abs would reconstitute I/R damage with prominent lung damage in injury-resistant Rag1? / ? animals. Rag1? / ? mice injected with anti-RNP Ab containing serum and subjected to mesenteric I/R suffered greater intestinal injury than control-treated and sham-operated animals. The magnitude of the reconstituted damage was anti-RNP Ab titer-dependent. Anti-RNP Ab-treated animals demonstrated a dose-dependent increase in lung histologic injury scores compared to control and sham animals. Anti-RNP mediated injury was shown to be complement dependent. These experiments reveal a novel mechanism whereby anti-RNP Abs contributes to the development of pulmonary pathology in patients with autoimmune diseases following exposure of remote organs to I/R injury. 相似文献
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Function of cerebellum in control and coordination of motor function has been well established for several years. Recent functional magnetic resonance imaging (MRI) studies reveal activation of cerebellum with memory, speech and language tasks. We hypothesize that during every function in the brain signals are relayed to cerebellum. We seek to analyze cognitive, emotional and social functions of cerebellum in patients with brain tumors and epilepsy utilizing functional Magnetic Resonance Imaging. Fifty‐one consecutive adult patients who underwent functional MRI examination were retrospectively analyzed for various activation patterns involving cerebellum. The neuropsychological battery of tasks assessed motor, language, memory, visual and auditory functions. Cognitive ability of all participants was assessed by Montreal cognitive assessment (MOCA). Patterns were analyzed for specific lobes and locations in the cerebellum. We found that simultaneous cerebellar activation is a consistent finding with brain activation during every functional MRI task that we tested except visual task. The patterns of functional MRI cerebellar activation were similar in both patient subgroups and control subjects compared to previously described patterns in normal subjects. Clin. Anat. 32:1053–1060, 2019. © 2019 Wiley Periodicals, Inc. 相似文献
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Vascular smooth muscle and glomerular mesangial cells in culture express a biochemical pathway that methylates 2-hydroxyestradiol (17beta-estradiol metabolite) to produce 2-methoxyestradiol, a cell growth inhibitor that may mediate the cardiorenal protective effects of 17beta-estradiol. Whether this pathway exists in intact organ systems is currently unclear. Accordingly, the purpose of the present investigation was to characterize the methylation of 2-hydroxestradiol in intact organs from both male and female rats. No significant differences were detected in the ability of male and female tissues to methylate 2-hydroxyestradiol. In isolated hearts, kidneys, and mesenteries perfused with Tyrode's solution, Km values for 2-hydroxyestradiol methylation were 0.175+/-0.021, 0.387+/-0.054, and 0.495+/-0.089 micromol/L, respectively, and Vmax values were 21.0+/-1.58, 24.9+/-1.49, and 1.01+/-0.148 pmol 2-methoxyestradiol x min(-1) x ml(-1) per gram, respectively. The catalytic efficiency (Vmax/Km) was greatest in the heart compared with the kidney and mesentery (132+/-14.3, 78.4+/-15.1, and 2.30+/-0.263 pmol 2-methoxyestradiol x min(-1) x mL(-1) x micromol/L(-1) per gram, respectively). In the kidney, the catechol-O-methyltransferase inhibitor quercetin and norepinephrine (10 micromol/L) reduced methylation of 2-hydroxyestradiol by approximately 90% and 41%, respectively. Importantly, methylation in the kidney was inhibited by an average of 16.6+/-1.80% by endogenous norepinephrine released by renal artery nerve stimulation. Our results indicate that a robust 2-hydroxyestradiol methylation pathway exists in the kidney and heart, but not in the mesentery, and that this pathway is mediated by catechol-O-methyltransferase. Our findings also suggest that catecholamines may interfere with 2-hydroxyestradiol methylation and thereby attenuate the cardiorenal protective effects of 17beta-estradiol. 相似文献
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Risks of red blood cell alloimmunization in transfusion‐dependent β‐thalassemia in Oman: a 25‐year experience of a university tertiary care reference center and a literature review
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