共查询到20条相似文献,搜索用时 15 毫秒
1.
Kei Ikeda Naotomo Kambe Syuji Takei Taiji Nakano Yuzaburo Inoue Minako Tomiita Natsuko Oyake Takashi Satoh Tsuyoshi Yamatou Tomohiro Kubota Ikuo Okafuji Nobuo Kanazawa Ryuta Nishikomori Naoki Shimojo Hiroyuki Matsue Hiroshi Nakajima 《Arthritis research & therapy》2014,16(2):R89
Introduction
Arthritis is the most frequent manifestation of Blau syndrome, an autoinflammatory disorder caused by the genetic mutation of NOD2. However, detailed information on arthritis in Blau syndrome on which the therapeutic strategy should be based on is lacking. This multi-center study aimed to accurately characterize the articular manifestation of Blau syndrome and also to demonstrate the utility of musculoskeletal ultrasound in Blau syndrome.Methods
Patients who had been diagnosed with Blau syndrome by genetic analysis of NOD2 were recruited. A total of 102 synovial sites in 40 joints were assessed semiquantitatively by ultrasound for gray-scale synovitis and synovial power Doppler (PD) signal.Results
In total, 10 patients whose age ranged from 10 months to 37 years enrolled in this study. Although only 4 joints (0.8%) were tender on physical examination, 81 joints (16.9%) were clinically swollen. Moreover, 240 (50.0%), and 124 (25.8%) joints showed gray-scale (GS) synovitis and synovial PD signal on ultrasound, respectively. Importantly, GS synovitis was present in 168 out of 399 non-swollen joints, in which 61 also exhibited synovial PD signal. Among 40 joint regions, the ankle, the wrist, and the proximal interphalangeal joints were the most frequently and severely affected joints. Comparisons between different synovial tissues demonstrated a significantly higher proportion of the joints with tenosynovitis as compared with that with intra-articular synovitis (41.5% versus 27.9%, P < 0.0001). In respect of age and treatment, synovial PD signals were minimal in the youngest patient and in the oldest two patients, and were relatively mild in patients receiving treatment with methotrexate plus TNF antagonists. In two patients who underwent the second ultrasound examination, total PD scores markedly decreased after initiating the treatment with a tumor necrosis factor (TNF) antagonist.Conclusions
The detailed information on synovial inflammation obtained by ultrasound confirms the dissociation between pain and inflammation and the frequently involved joint regions and synovial tissue in the arthritis of Blau syndrome. Our data also demonstrate that ultrasonography can be a potent tool in monitoring the activity of synovial inflammation and in investigating the pathophysiology of arthritis in this rare but archetypical autoinflammatory condition. 相似文献2.
Background
Chronic fatigue syndrome (CFS) is defined by debilitating fatigue that is exacerbated by physical or mental exertion. To search for markers of CFS-associated post-exertional fatigue, we measured peripheral blood gene expression profiles of women with CFS and matched controls before and after exercise challenge. 相似文献3.
4.
Eishi?Funakoshi Takamitsu?Hori Tokuko?Haraguchi Yasushi?Hiraoka Jun?Kudoh Nobuyoshi?Shimizu Fumiaki?Ito
Background
Previously we cloned the human MNB/DYRK1A gene from the "Down syndrome critical region" on chromosome 21. This gene encodes a dual specificity protein kinase that catalyzes its autophosphorylation on serine/threonine and tyrosine residues. But, the functions of the MNB/DYRK1A gene in cellular processes are unknown. 相似文献5.
Piontkivska H Zhang Y Green ED;NISC Comparative Sequencing Program Elnitski L 《BMC genomics》2004,5(1):31-13
Background
The elastin gene (ELN) is implicated as a factor in both supravalvular aortic stenosis (SVAS) and Williams Beuren Syndrome (WBS), two diseases involving pronounced complications in mental or physical development. Although the complete spectrum of functional roles of the processed gene product remains to be established, these roles are inferred to be analogous in human and mouse. This view is supported by genomic sequence comparison, in which there are no large-scale differences in the ~1.8 Mb sequence block encompassing the common region deleted in WBS, with the exception of an overall reversed physical orientation between human and mouse. 相似文献6.
Patrick F Sullivan Tobias Allander Fredrik Lysholm Shan Goh Bengt Persson Andreas Jacks Birgitta Eveng?rd Nancy L Pedersen Bj?rn Andersson 《BMC microbiology》2011,11(1):2
Background
Chronic fatigue syndrome is an idiopathic syndrome widely suspected of having an infectious or immune etiology. We applied an unbiased metagenomic approach to try to identify known or novel infectious agents in the serum of 45 cases with chronic fatigue syndrome or idiopathic chronic fatigue. Controls were the unaffected monozygotic co-twins of cases, and serum samples were obtained at the same place and time. 相似文献7.
Cornel Pater Carl Ditlef Jacobsen Arnfinn Rollag Leiv Sandvik Jan Erikssen Else Karin Kogstad 《Trials》2000,1(3):177-7
Objectives
1. To assess the long-term effectiveness of a comprehensive cardiac rehabilitation programme on quality of life and survival in patients with a large spectrum of cardiovascular diseases (myocardial infarction, acute coronary syndrome, percutaneous transluminal coronary angioplasty and coronary artery bypass grafting). 2. To establish the degree of correlation between expected improvement of health-related quality of life and improvement in physical function attributable to rehabilitation in the intervention group, in comparison with similar changes in the conventional care group. 相似文献8.
George Calin Guglielmina N Ranzani Dino Amadori Vlad Herlea Irina Matei Giuseppe Barbanti-Brodano Massimo Negrini 《BMC genetics》2001,2(1):14-7
Background
Genomic instability has been reported at microsatellite tracts in few coding sequences. We have shown that the Bloom syndrome BLM gene may be a target of microsatelliteinstability (MSI) in a short poly-adenine repeat located in its coding region. To further characterize the involvement of BLM in tumorigenesis, we have investigated mutations in nine genes containing coding microsatellites in microsatellite mutator phenotype (MMP) positive and negative gastric carcinomas (GCs). 相似文献9.
Objective
To investigate, using accelerometers, the levels of physical activity being undertaken by individuals with intellectual disabilities with and without Down''s syndrome.Methods
One hundred and fifty two individuals with intellectual disabilities aged 12–70 years from East and South-East England. Physical activity levels in counts per minute (counts/min), steps per day (steps/day), and minutes of sedentary, light, moderate, vigorous, and moderate to vigorous physical activity (MVPA) measured with a uni-axial accelerometer (Actigraph GT1M) for seven days.Results
No individuals with intellectual disabilities met current physical activity recommendations. Males were more active than females. There was a trend for physical activity to decline and sedentary behaviour to increase with age, and for those with more severe levels of intellectual disability to be more sedentary and less physically active, however any relationship was not significant when adjusted for confounding variables. Participants with Down''s syndrome engaged in significantly less physical activity than those with intellectual disabilities without Down''s syndrome and levels of activity declined significantly with age.Conclusions
Individuals with intellectual disabilities, especially those with Down''s syndrome may be at risk of developing diseases associated with physical inactivity. There is a need for well-designed, accessible, preventive health promotion strategies and interventions designed to raise the levels of physical activity for individuals with intellectual disabilities. We propose that there are physiological reasons why individuals with Down''s syndrome have particularly low levels of physical activity that also decline markedly with age. 相似文献10.
Background
Recent research show that polycystic ovary syndrome (PCOS) may have an association with low-grade chronic inflammation, IL-18 is considered as a strong risk marker of inflammation. 相似文献11.
Marcel ML Cunha Anderson J Franzen Sergio H Seabra Marcelo H Herbst Ney V Vugman Luana P Borba Wanderley de Souza Sonia Rozental 《BMC microbiology》2010,10(1):80
Background
The pathogenic fungus Fonsecaea pedrosoi constitutively produces the pigment melanin, an important virulence factor in fungi. Melanin is incorporated in the cell wall structure and provides chemical and physical protection for the fungus. 相似文献12.
Introduction
α-Fodrin is an autoantigen in Sj?gren's syndrome. We hypothesized that mucosal administration of α-fodrin might prevent the disease. 相似文献13.
Background
Recent research shows that polycystic ovary syndrome (PCOS) may have an association with low-grade chronic inflammation, and that PCOS may induce an increase in serum interleukin-18 (IL-18) levels. 相似文献14.
Mohammad Barzegar Saeed Dastgiri Mohammad H Karegarmaher Ali Varshochiani 《BMC neurology》2007,7(1):22
Background and aims
This study was carried out to investigate the incidence, annual time trend and some epidemiological and clinical features of Guillain-Barre syndrome in children in the north west of Iran.Materials and methods
In this population-based cross sectional research, epidemiological and clinical features of 143 cases with Guillain-Barre syndrome between 2001 and 2006 were studied. The setting of the study was Tabriz Children Medical Centre, the major University-Hospital located in Tabriz city of the East Azarbaijan province covering whole region. Data collected included age, gender, chronological information, preceding events, functional grade of motor deficit.Results
The mean age (standard deviation) of subjects was 5.4 (3.6) years. The male/female ratio was 1.3. The average annual incidence rate was 2.27 per 100 000 population of 15 years children (CI95%: 1.9–2.6). The majority of cases occurred in March, July and November and the highest proportion of the syndrome was observed in winter (29 percent, P > 0.10).Conclusion
The results indicated that an unexpected high incidence of Guillain-Barre syndrome has occurred in 2003 in the region. We concluded that a monitoring and surveillance system for Guillain-Barre syndrome is essential to set up in this region.15.
Background
Down syndrome is the most frequent genetic disorder in humans. Rare cases involving partial trisomy of chromosome 21 allowed a small chromosomal region common to all carriers, called Down Syndrome Critical Region (DSCR), to be determined. The DSCR1 gene was identified in this region and is expressed preferentially in the brain, heart and skeletal muscle. Recent studies have shown that DSCR1 belongs to a family of proteins that binds and inhibits calcineurin, a serine-threonine phosphatase. The work reported on herein consisted of a study of the subcellular location of DSCR1 and DSCR1-mutated forms by fusion with a green fluorescent protein, using various cell lines, including human. 相似文献16.
Background
Chondrodystrophic myotonia or Schwartz-Jampel syndrome is a rare genetic disorder characterized by myotonia and skeletal dysplasia. It may be progressive in nature. Recently, the gene responsible for Schwartz-Jampel syndrome has been found and the defective protein it encodes leads to abnormal cartilage development and anomalous neuromuscular activity. 相似文献17.
Roberto Bruni Angela Costantino Elena Tritarelli Cinzia Marcantonio Massimo Ciccozzi Maria Rapicetta Gamal El Sawaf Alessandro Giuliani Anna Rita Ciccaglione 《BMC structural biology》2009,9(1):48
Background
The E1 protein of Hepatitis C Virus (HCV) can be dissected into two distinct hydrophobic regions: a central domain containing an hypothetical fusion peptide (FP), and a C-terminal domain (CT) comprising two segments, a pre-anchor and a trans-membrane (TM) region. In the currently accepted model of the viral fusion process, the FP and the TM regions are considered to be closely juxtaposed in the post-fusion structure and their physical interaction cannot be excluded. In the present study, we took advantage of the natural sequence variability present among HCV strains to test, by purely sequence-based computational tools, the hypothesis that in this virus the fusion process involves the physical interaction of the FP and CT regions of E1. 相似文献18.
Background
The tropomodulins (TMODs) are a family of proteins that cap the pointed ends of actin filaments. Four TMODs have been identified in humans, with orthologs in mice. Mutations in actin or actin-binding proteins have been found to cause several human diseases, ranging from hypertrophic cardiomyopathy to immunodefiencies such as Wiskott-Aldrich syndrome. We had previously mapped Tropomodulin 2 (TMOD2) to the genomic region containing the gene for amyotrophic lateral sclerosis 5 (ALS5). We determined the genomic structure of Tmod2 in order to better analyze patient DNA for mutations; we also determined the genomic structure of Tropomodulin 4 (TMOD4). 相似文献19.
Evgeny A Semchenko Christopher J Day Jennifer C Wilson I Darren Grice Anthony P Moran Victoria Korolik 《BMC microbiology》2010,10(1):305
Background
Campylobacter jejuni is a major bacterial cause of food-borne enteritis, and its lipooligosaccharide (LOS) plays an initiating role in the development of the autoimmune neuropathy, Guillain-Barré syndrome, by induction of anti-neural cross-reactive antibodies through ganglioside molecular mimicry. 相似文献20.
Adrià Arboix Joan Massons Luis García-Eroles Cecilia Targa Emili Comes Olga Parra 《BMC neurology》2010,10(1):31