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排序方式: 共有1549条查询结果,搜索用时 15 毫秒
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Annals of Nuclear Medicine - Cardiac amyloidosis is a rare disease characterized by amyloid heart deposits and is usually a part of systemic amyloidosis, in relation to systemic light chain (AL)... 相似文献
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Pashov A Kenderov A Kyurkchiev S Kehayov I Hristova S Lacroix-Desmazes S Giltiay N Varamballi S Kazatchkine MD Kaveri SV 《International immunology》2002,14(5):453-461
The present study demonstrates the presence of natural autoantibodies of the IgG isotype directed against heat shock protein 90 (HSP90). The binding properties of affinity-purified anti-HSP antibodies were compared with those of natural antibodies specific for other self antigens, including anti-thyroglobulin and anti-myoglobin autoantibodies, by using semiquantitative immunoblotting, with solubilized proteins from normal liver tissue as antigens, and cross-blot analysis using purified self proteins. Affinity-purified anti-HSP90 antibodies were polyreactive and the non-HSP90-specific fraction of normal IgG was depleted in its natural autoantibody content. We further observed that self antigens including HSP, myosin, tubulin and aldolase with highly conserved structures show similar patterns of binding with natural antibodies, and form a well-defined cluster as demonstrated by cluster analysis of immunoreactivity data, whereas the less-conserved self and non-self antigens remained unclustered. The results favor the hypothesis that HSP90 belongs to a subset of highly conserved and immunodominant self antigens that are the primary target for natural autoantibodies in normal human IgG. 相似文献
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Daphné Lehalle Roberto Colombo Michael O'Grady Bénédicte Héron Nada Houcinat Paul Kuentz Sebastien Moutton Arthur Sorlin Julien Thevenon Julian Delanne Sebastien Gay Caroline Racine Aurore Garde Frédéric Tran Mau‐Them Christophe Philippe Antonio Vitobello Sophie Nambot Frédéric Huet Yannis Duffourd François Feillet Christel Thauvin‐Robinet Sandrine Marlin Laurence Faivre 《American journal of medical genetics. Part A》2019,179(9):1756-1763
Alpha‐mannosidosis (AM) is a very rare (prevalence: 1/500000 births) autosomal recessive lysosomal storage disorder. It is characterized by multi‐systemic involvement associated with progressive intellectual disability, hearing loss, skeletal anomalies, and coarse facial features. The spectrum is wide, from very severe and lethal to a milder phenotype that usually progresses slowly. AM is caused by a deficiency of lysosomal alpha‐mannosidase. A diagnosis can be established by measuring the activity of lysosomal alpha‐mannosidase in leucocytes and screening for abnormal urinary excretion of mannose‐rich oligosaccharides. Genetic confirmation is obtained with the identification of MAN2B1 mutations. Enzyme replacement therapy (LAMZEDER) was approved for use in Europe in August 2018. Here, we describe seven individuals from four families, diagnosed at 3–23 years of age, and who were referred to a clinical geneticist for etiologic exploration of syndromic hearing loss, associated with moderate learning disabilities. Exome sequencing had been used to establish the molecular diagnosis in five cases, including a two‐sibling pair. In the remaining two patients, the diagnosis was obtained with screening of urinary oligosaccharides excretion and the association of deafness and hypotonia. These observations emphasize that the clinical diagnosis of AM can be challenging, and that it is likely an underdiagnosed rare cause of syndromic hearing loss. Exome sequencing can contribute significantly to the early diagnosis of these nonspecific mild phenotypes, with advantages for treatment and management. 相似文献
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Hemagglutinin activity (HA) was studied in the midgut extracts from highly (h) and lowly susceptible strains of Aedes aegypti mosquitoes to Dengue-2 virus (DEN-2). HA in the midgut extracts from these two isofemale strains of mosquitoes was high in as compared to (h) mosquitoes. HA was found to be higher with chicken red blood cells (RBCs) than with rabbit and human RBCs of O group. Larval midgut extracts showed higher activity than those from adult female mosquitoes. Exposure of midgut extracts to 100 degrees C for 10 mins destroyed the activity. The activity was observed between pH 6 and pH 10. HA in midgut extracts was also studied using twenty different carbohydrates; five of them showed an inhibition of HA. The inhibitory carbohydrates, when incorporated into DEN-2-infected bloodmeal, showed a reduction in the susceptibility of mosquitoes to the virus as compared to the control ones fed on the virus alone. Similarly, when these carbohydrates were incorporated in the DEN-2-infected inoculum, the inoculated mosquitoes showed a reduction in the susceptibility to the virus. HA in the virus-infected midgut extracts was higher than that in the uninfected controls. These results suggest that the presence of HA in the midgut may be one of the factors that affect the susceptibility of Ae. aegypti mosquitoes to DEN-2. 相似文献
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Lacroix-Desmazes S Mouthon L Kaveri SV Kazatchkine MD Weksler ME 《Journal of clinical immunology》1999,19(1):26-34
We have used a quantitative immunoblotting technique to analyze the repertoires of self-reactive antibodies in serum samples obtained from the same five healthy adults over a 25-year interval. The average age of the donors was 43 years at the time of the first serum sample and 69 years at the time of the second serum sample. The antibody repertoires of IgM and IgG were found to be strikingly similar among individuals in both early and late samples. Densitometric profiles of self-reactivity of serum IgM and of purified serum IgG remained unchanged over the 25-year interval. The total reactivity of serum IgG decreased significantly over the 25-year period. The observed stability of the natural self-reactive IgM and IgG antibody repertoires with aging supports the view that autoreactive B cells in the normal immune system are positively selected for reactivity with a limited set of immuno-dominant self-antigens throughout life. 相似文献
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Philippe Arbeille Didier Chaput Kathryn Zuj Arielle Depriester Alain Maillet Olivier Belbis Patrice Benarroche Sebastien Barde 《Ultrasound in medicine & biology》2018,44(11):2406-2412
Echography is the most appropriate imaging modality for investigating astronauts. Unfortunately, it requires a great deal of training to perform ultrasound examinations, which can be difficult and time consuming, especially if the astronaut does not have a medical background. We designed a new echography system with motorized probes that allows for the majority of exam functions to be controlled by a ground-based sonographer. Using tele-operation, the sonographer controls the orientation of the transducer (tilt, rotation) and echograph settings (gain, depth, freeze) and triggers ultrasound functions (pulsed wave color Doppler, 3-D capture, radiofrequency data collection, elastography). With this system, astronauts are required to hold the motorized probe only at the locations indicated, with the remainder of the exam being conducted by the ground-based sonographer. During spaceflight, ultrasound imaging of the carotid artery, jugular vein, thyroid, liver, gallbladder, biliary tract and portal vein (2-D, 3-D, color, pulsed wave, radiofrequency) were successfully performed. 相似文献
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Julien D. Périard PhD Sebastien Racinais PhD Martin W. Thompson PhD 《Muscle & nerve》2014,50(5):822-829
Introduction: We examined the extent to which fatiguing cycling exercise in the heat influences contractile function in modulating the force–frequency relationship. Methods: Before (∽37.0°C) and after (∽38.5°C) exercise (ExH) and passive (PaH) hyperthermia, an 8‐s train of stimulation at 10, 20, 50, and 100 Hz (2 s per frequency) and a potentiated twitch were evoked on the relaxed knee extensors using percutaneous stimulation. Results: ExH and PaH produced a decrease in the 20:50 Hz force ratio, indicative of low‐frequency fatigue (P < 0.01). This adjustment was more pronounced after ExH than PaH (P < 0.01). A rightward displacement in the force–frequency relationship occurred after ExH and PaH (P < 0.05) and was exacerbated by ExH (P < 0.05). Peak twitch force also decreased after ExH (P < 0.05). Conclusions: ExH reduces force summation due to development of skeletal muscle fatigue, exacerbating the shift in force–frequency to the right relative to PaH. Muscle Nerve 50 : 822–829, 2014 相似文献