排序方式: 共有79条查询结果,搜索用时 15 毫秒
41.
Papadaki ME Lietman SA Levine MA Olsen BR Kaban LB Reichenberger EJ 《Orphanet journal of rare diseases》2012,7(Z1):S6
Cherubism is a skeletal dysplasia characterized by bilateral and symmetric fibro-osseous lesions limited to the mandible and maxilla. In most patients, cherubism is due to dominant mutations in the SH3BP2 gene on chromosome 4p16.3. Affected children appear normal at birth. Swelling of the jaws usually appears between 2 and 7 years of age, after which, lesions proliferate and increase in size until puberty. The lesions subsequently begin to regress, fill with bone and remodel until age 30, when they are frequently not detectable.Fibro-osseous lesions, including those in cherubism have been classified as quiescent, non-aggressive and aggressive on the basis of clinical behavior and radiographic findings. Quiescent cherubic lesions are usually seen in older patients and do not demonstrate progressive growth. Non-aggressive lesions are most frequently present in teenagers. Lesions in the aggressive form of cherubism occur in young children and are large, rapidly growing and may cause tooth displacement, root resorption, thinning and perforation of cortical bone.Because cherubism is usually self-limiting, operative treatment may not be necessary. Longitudinal observation and follow-up is the initial management in most cases. Surgical intervention with curettage, contouring or resection may be indicated for functional or aesthetic reasons. Surgical procedures are usually performed when the disease becomes quiescent. Aggressive lesions that cause severe functional problems such as airway obstruction justify early surgical intervention. 相似文献
42.
Reichenberger EJ Levine MA Olsen BR Papadaki ME Lietman SA 《Orphanet journal of rare diseases》2012,7(Z1):S5
Cherubism is a rare bone dysplasia that is characterized by symmetrical bone resorption limited to the jaws. Bone lesions are filled with soft fibrous giant cell-rich tissue that can expand and cause severe facial deformity. The disorder typically begins in children at ages of 2-5 years and the bone resorption and facial swelling continues until puberty; in most cases the lesions regress spontaneously thereafter. Most patients with cherubism have germline mutations in the gene encoding SH3BP2, an adapter protein involved in adaptive and innate immune response signaling. A mouse model carrying a Pro416Arg mutation in SH3BP2 develops osteopenia and expansile lytic lesions in bone and some soft tissue organs. In this review we discuss the genetics of cherubism, the biological functions of SH3BP2 and the analysis of the mouse model. The data suggest that the underlying cause for cherubism is a systemic autoinflammatory response to physiologic challenges despite the localized appearance of bone resorption and fibrous expansion to the jaws in humans. 相似文献
43.
Luis Chara Ana Sánchez-Atrio Ana Pérez Eduardo Cuende Fernando Albarrán Ana Turrión Julio Chevarria Miguel A Sánchez Jorge Monserrat Antonio de la Hera Alfredo Prieto Ignacio Sanz David Diaz Melchor Alvarez-Mon 《Arthritis research & therapy》2012,14(4):R175
Introduction
The treatment of rheumatoid arthritis (RA) patients with anti-tumor necrosis factor alpha (TNFα) biological drugs has dramatically improved the prognosis of these patients. However, a third of the treated patients do not respond to this therapy. Thus, the search for biomarkers of clinical response to these agents is currently highly active. Our aim is to analyze the number and distribution of circulating monocytes, and of their CD14+highCD16-, CD14+highCD16+ and CD14+lowCD16+ subsets in methotrexate (MTX) non-responder patients with RA, and to determine their value in predicting the clinical response to adalimumab plus MTX treatment.Methods
This prospective work investigated the number of circulating monocytes, and of their CD14+highCD16-, CD14+highCD16+ and CD14+lowCD16+ subsets, in 35 MTX non-responder patients with RA before and after three and six months of anti-TNFα treatment using multiparametric flow cytometry. The number of circulating monocytes in an age- and sex-matched healthy population was monitored as a control.Results
Non-responder patients with RA show an increased number of monocytes and of their CD14+highCD16-, CD14+highCD16+ and CD14+lowCD16+ subsets after three months of adalimumab plus MTX treatment that remained significantly increased at six months. In contrast, significant normalization of the numbers of circulating monocytes was found in responders at three months of adalimumab plus MTX treatment that lasts up to six months. CX3CR1 expression is increased in monocytes in non-responders. At three months of anti-TNFα treatment the number of circulating monocytes and their subsets was associated with at least 80% sensitivity, 84% specificity and an 86% positive predictive value (PPV) in terms of discriminating between eventual early responders and non-responders.Conclusions
The absolute number of circulating monocytes and of their CD14+highCD16-, CD14+highCD16+ and CD14+lowCD16+ subsets at three months of adalimumab plus MTX treatment, have a predictive value (with high specificity and sensitivity) in terms of the clinical response after six months of anti-TNFα treatment in patients with RA. 相似文献44.
Magda Nakou Georgios Katsikas Prodromos Sidiropoulos George Bertsias Eva Papadimitraki Amalia Raptopoulou Helen Koutala Helen A Papadaki Herakles Kritikos Dimitrios T Boumpas 《Arthritis research & therapy》2009,11(4):R131-8
Introduction
Bone marrow (BM) is an immunologically privileged site where activated autoantibody-producing B cells may survive for prolonged periods. We investigated the effect of rituximab (anti-CD20 mAb) in peripheral blood (PB) and BM B-cell and T-cell populations in active rheumatoid arthritis (RA) patients. 相似文献45.
Katherine Roberts Anastasia Papadaki Carla Gonçalves Mary Tighe Duncan Atherton Ravikiran Shenoy Donald McRobbie Praveen Anand 《BMC anesthesiology》2008,8(1):1-12
Background
The Contact Heat Evoked Potential Stimulator (CHEPS) utilises rapidly delivered heat pulses with adjustable peak temperatures to stimulate the differential warm/heat thresholds of receptors expressed by Aδ and C fibres. The resulting evoked potentials can be recorded and measured, providing a useful clinical tool for the study of thermal and nociceptive pathways. Concurrent recording of contact heat evoked potentials using electroencephalogram (EEG) and functional magnetic resonance imaging (fMRI) has not previously been reported with CHEPS. Developing simultaneous EEG and fMRI with CHEPS is highly desirable, as it provides an opportunity to exploit the high temporal resolution of EEG and the high spatial resolution of fMRI to study the reaction of the human brain to thermal and nociceptive stimuli.Methods
In this study we have recorded evoked potentials stimulated by 51°C contact heat pulses from CHEPS using EEG, under normal conditions (baseline), and during continuous and simultaneous acquisition of fMRI images in ten healthy volunteers, during two sessions. The pain evoked by CHEPS was recorded on a Visual Analogue Scale (VAS).Results
Analysis of EEG data revealed that the latencies and amplitudes of evoked potentials recorded during continuous fMRI did not differ significantly from baseline recordings. fMRI results were consistent with previous thermal pain studies, and showed Blood Oxygen Level Dependent (BOLD) changes in the insula, post-central gyrus, supplementary motor area (SMA), middle cingulate cortex and pre-central gyrus. There was a significant positive correlation between the evoked potential amplitude (EEG) and the psychophysical perception of pain on the VAS.Conclusion
The results of this study demonstrate the feasibility of recording contact heat evoked potentials with EEG during continuous and simultaneous fMRI. The combined use of the two methods can lead to identification of distinct patterns of brain activity indicative of pain and pro-nociceptive sensitisation in healthy subjects and chronic pain patients. Further studies are required for the technique to progress as a useful tool in clinical trials of novel analgesics. 相似文献46.
Kinetics of ATP release and cell volume regulation of hyposmotically challenged goldfish hepatocytes
Pafundo DE Chara O Faillace MP Krumschnabel G Schwarzbaum PJ 《American journal of physiology. Regulatory, integrative and comparative physiology》2008,294(1):R220-R233
In most animal cells, hypotonic swelling is followed by a regulatory volume decrease (RVD) thought to prevent cell death. In contrast, goldfish hepatocytes challenged with hypotonic medium (180 mosM, HYPO) increase their volume 1.7 times but remain swollen and viable for at least 5 h. Incubation with ATPgammaS (an ATP analog) in HYPO triggers a 42% volume decrease. This effect is concentration dependent (K(1/2) = 760 nM) and partially abolished by P2 receptor antagonists (64% inhibition). A similar induction of RVD is observed with ATP, UTP, and UDP, whereas adenosine inhibits RVD. Goldfish hepatocytes release more than 500 nM ATP during the first minutes of HYPO with no induction of RVD. The fact that similar concentrations of ATPgammaS did trigger RVD could be explained by showing that ATPgammaS induced ATP release. Finally, we observed that in a very small extracellular volume, hepatocytes do show a 56% RVD. This response was diminished by P2 receptor antagonists (73%) and increased (73%) when the extracellular ATP hydrolysis was inhibited 72%. Using a mathematical model, we predict that during the first 2 min of HYPO exposure the extracellular [ATP] is mainly governed by ATP diffusion and by both nonlytic and lytic ATP release, with almost no contribution from ecto-ATPase activity. We show that goldfish hepatocytes under standard HYPO (large volume) do not display RVD unless this is triggered by the addition of micromolar concentrations of nucleotides. However, under very low assay volumes, sufficient endogenous extracellular [ATP] can build up to induce RVD. 相似文献
47.
Enterocutaneous fistulae are pathological communications between the intestinal lumen and the abdominal skin. Under surgery
the mortality of this pathology is very high, therefore a vacuum applying system has been carried previously on attempting
to close these fistulae. The objective of this article is the understanding of how these treatments might work through deterministic
mathematical modelling. Four models are here proposed based on several assumptions involving: the conservation of the flow
in the fistula, a low enough Reynolds number justifying a laminar flow, the use of Poiseuille law to model the movement of
the fistulous liquid, as well as phenomenological equations including the fistula tissue and intermediate chamber compressibility.
Interestingly, the four models show fistulae closing behaviour during experimental time (t<60 sec). To compare the models, both, simulations and pressure measurements, carried out on the vacuum connected to the patients,
are performed. Time course of pressure are then simulated (from each model) and fitted to the experimental data. The model
which best describes actual measurements shows exponential pumping flux kinetics. Applying this model, numerical relationship
between the fistula compressibility and closure time is presented. The models here developed would contribute to clarify the
treatment mechanism and, eventually, improve the fistulae treatment. 相似文献
48.
49.
Mullin Ho Chung Yu Marcus Chun Yin Chan Claudia Ching Yan Chung Andrew Wang Tat Li Chara Yin Wa Yip Christopher Chun Yu Mak Jeffrey Fong Ting Chau Mianne Lee Jasmine Lee Fong Fung Mandy Ho Yin Tsang Joshua Chun Ki Chan Wilfred Hing Sang Wong Jing Yang William Chun Ming Chui Patrick Ho Yu Chung Wanling Yang So Lun Lee Godfrey Chi Fung Chan Paul Kwong Hang Tam Yu Lung Lau Clara Sze Man Tang Kit San Yeung Brian Hon Yin Chung 《PLoS genetics》2021,17(2)
50.
Tsoumakidou M Tzanakis N Papadaki HA Koutala H Siafakas NM 《Immunology and cell biology》2006,84(3):267-273
Studies of bronchoalveolar lavage fluid (BALF) dendritic cells (DC) have been hampered by the scarcity of DC and the lack of DC-specific surface markers. Four surface Ag have been recently described as specific markers for distinct subsets of DC and have been used for the isolation and characterization of fresh noncultured DC from lung resection specimens: BDCA-1 (CD1c) and BDCA-3 for myeloid DC type 1 and type 2, respectively, and BDCA-2 and BDCA-4 for plasmacytoid DC. The aim of this study was to develop a new method for the isolation of BALF DC, using immunomagnetic separation of BDCA+ cells. Mononuclear cells were obtained from BALF after Ficoll-Paque density gradient centrifugation. Monocytes, T cells and B cells were magnetically labelled and depleted. The unlabelled cell fraction was incubated with BDCA-1, BDCA-3 and BDCA-4 beads and the total BDCA+ DC were retained. The ability of isolated DC to induce T-cell responses was evaluated by coculturing the isolated DC with immunomagnetically sorted naive T cells. The above procedure resulted in a population of viable DC that showed a strong capacity in induce T-cell responses. Functionally intact human BALF myeloid DC types 1 and 2 as well as plasmacytoid DC can be easily obtained by immunomagnetic isolation. Considering that bronchoalveolar lavage is a minimally invasive procedure, these cells are optimal candidates with which to elucidate the properties and capabilities of pulmonary DC. 相似文献