共查询到20条相似文献,搜索用时 15 毫秒
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《Autoimmunity reviews》2013,12(2):235-240
The Churg–Strauss Syndrome is an ANCA-associated vasculitis, an inflammatory multisystem disease with preference to the respiratory tract. Peripheral and tissue eosinophilia are the pathological hallmarks of this condition. The etiopathogenesis is unknown but some cytokines appear to play a central role and could be targets for new therapies. 相似文献
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Wojciech Szczeklik Bogdan Jakieła Dariusz Adamek Jacek Musiał 《Clinical reviews in allergy & immunology》2013,44(1):39-50
Churg–Strauss syndrome (CSS) is a rare systemic small-vessel vasculitis that develops in the background of bronchial asthma, which is characterized by eosinophilia and eosinophilic infiltration of various tissues. It belongs to the group of antineutrophil cytoplasmic autoantibody (ANCA)-associated vasculitides. The triggering factors and pathogenesis of CSS are still unknown. The possible role of eotaxin-3 and CCR4-related chemokines in selective recruitment of eosinophils to the target tissues in CSS has been recently suggested, but the role of eosinophilic inflammation in the development of vasculitic lesions is not completely understood. From the clinical view, two distinct phenotypes of the disease are slowly emerging depending on the ANCA-positivity status. Glucocorticoids are still the mainstay of treatment; however, data are accumulating regarding the beneficial role of novel immunosuppressants and biologic compounds, especially in patients with poorer prognosis. 相似文献
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《Journal of trauma & dissociation》2013,14(3):93-99
ABSTRACT Ganser Syndrome is a rare and controversial disorder, a form of pseudodementia, which has often been associated with prison environments. It is classified under dissociative disorder, not otherwise specified in the DSM-IV, and as a dissociative disorder with its own code in the ICD-10. In the literature, it has also been described as a psychotic illness, a factitious disorder, a histrionic disorder, and an organic illness. Despite special interest in dissociative disorders, we have diagnosed only one case of Ganser Syndrome during six years in Mental Hospital for Prisoners (that houses) with about 300 treatment periods per year of 3,000 male prisoners from a base population of five million people. While dissociative symptoms were clear, the patient also suffered from progressing organic dementia. Antipsychotic medication had no beneficial effect, but hypnosis clearly ameliorated the patient's symptoms. We conclude that Ganser Syndrome is rare, and may co-occur with organic dementia. The positive effect of hypnosis, apparently here described for the first time, may confirm the dissociative nature of the syndrome. 相似文献
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Jinting Xiao Alain R. Simard Fu-Dong Shi Junwei Hao 《Clinical reviews in allergy & immunology》2014,47(3):274-288
Guillain–Barré syndrome (GBS) is an acute and usually monophasic, neurological, demyelinating disease. Although most patients have good outcomes without sequelae after conventional plasma exchange and intravenous immunoglobulin therapy, 20 % of patients continue to have severe disease and 5 % die of their disease. Therefore, there is an obvious need for more acceptable and efficacious therapies. Experimental autoimmune neuritis (EAN) is the classical animal model for GBS. As there is no specific drug for GBS, several drugs targeting the humoral and cellular components of the immune response have been used to treat EAN in the endeavour to find new treatment alternatives for GBS. This review focused on some new strategies for GBS, which have been reported but have not yet been widely used, and on the main drugs which have been investigated in EAN. 相似文献
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Various forms of neurological manifestations are reported in dengue fever. We describe here three cases of concomitant Guillain–Barré syndrome and dengue virus (DENV) infection during the largest DENV-1 outbreak in New Caledonia. Research of viral RNA was positive in both blood and CSF samples. All patients were treated with intravenous polyvalent immunoglobulins and recovered without sequelae within one week. 相似文献
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Virginia Bellido Ihintza Larrañaga Maite Guimón Rafael Martinez-Conde Asier Eguia Gustavo Perez de Nanclares Luis Castaño Sonia Gaztambide 《Endocrine pathology》2016,27(2):142-146
Hyperparathyroidism–jaw tumour syndrome (HPT-JT) is a rare variant of familial hyperparathyroidism, characterized by primary hyperparathyroidism (PHPT) due to one or multiple parathyroid adenomas, and benign tumours of the mandible and maxilla. It has an autosomal dominant pattern of inheritance, and is associated with mutations that deactivate the cell division cycle protein 73 homolog (CDC73) gene, also known as hyperparathyroidism 2 (HRPT2), located on the long arm of chromosome 1, that encodes for the tumour suppressor protein parafibromin. In the majority of cases, PHPT is the presenting symptom, but up to 30 % of HPT-JT cases initially present with an ossifying fibroma of the maxillofacial bones. HPT-JT may result in severe hypercalcemia-related complications and an elevated risk of parathyroid carcinoma. For this reason, early identification of the disease is important. We present the case of a 23-year-old woman who was found to have jaw tumours and was later diagnosed with PHPT. Genetic analysis revealed a novel mutation in exon 1 of CDC73. This report contributes to the understanding of the genetics of this rare syndrome. It also highlights the fact that HPT-JT should be considered and CDC73 mutation analysis should be performed in cases of early-onset PHPT associated with ossifying fibromas of the jaw. 相似文献
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Individuals diagnosed with chromosome 8p inverted duplication deletion (invdupdel(8p)) manifest a wide range of clinical features
and cognitive impairment. The purpose of this study is to employ array CGH technology to define more precisely the cytogenetic
breakpoints and regions of copy number variation found in several individuals with invdupdel(8p), and compare these results
with their neuropsychological characteristics. We examined the cognitive-behavioral features of two male and two female children,
ages 3–15 years, with invdupdel(8p). We noted cognitive deficits that ranged from mild to severe, and adaptive behavior composites
that ranged from significantly to substantially lower than adequate levels. CARS scores, a measure of autistic behavior, identified
three children with autism or autistic-like features. Three of the four children exhibited attention deficits and hyperactivity
consistent with a DSM-IV-TR diagnosis of ADHD. One child showed extreme emotional lability. Interestingly, intellectual disability
was not correlated with deletion size, nor was the deletion location associated with the autistic phenotype. On the other
hand, the duplication length in 8p21.1/8p22 was associated with cognitive deficit. In addition, a small locus of over-expression
in 8p21.3 was common for all three participants diagnosed as autistic. A limitation of the study is its small sample size.
Further analyses of the deleted and over-expressed regions are needed to ascertain the genes involved in cognitive function
and, possibly, autism. 相似文献
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Kraft Monica T. Mehyar Lubna S. Prince Benjamin T. Reshmi Shalini C. Abraham Roshini S. Abu-Arja Rolla 《Journal of clinical immunology》2021,41(5):1089-1094
Journal of Clinical Immunology - 相似文献
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Pamela P. W. Lee Tong-Xin Chen Li-Ping Jiang Jing Chen Koon-wing Chan Tze-Leung Lee Marco H. K. Ho Shao-Han Nong Yin Yang Yong-Jun Fang Qiang Li Xiao-Chun Wang Xi-Qiang Yang Yu-Lung Lau 《Journal of clinical immunology》2009,29(4):490-500
Background Wiskott–Aldrich syndrome (WAS) is a rare primary immunodeficiency disease, with an incidence of 4/1,000,000 live male births. In China,
an estimated number of 35 babies with WAS are born each year, but likely many remain undiagnosed.
Objectives The objectives of study were to review the clinical and molecular characteristics of a cohort of Chinese children with WAS
and to describe the long-term outcome of those who underwent hematopoietic stem cell transplant (HSCT).
Materials and Method Records of 35 patients diagnosed with WAS during 1991–2008 were reviewed. Genetic diagnosis was established by direct gene
sequencing.
Results All patients had classical WAS phenotype. WASP mutations were identified in 33 patients from 29 families. Nine patients underwent HSCT at a mean age of 22.1 months (match-unrelated
donor, n = 5; mismatched related donor, n = 2; matched-sibling donor, n = 2). Post-transplant immune hemolytic anemia and thrombocytopenia occurred in three patients with complete resolution. All
patients survived without significant long-term complications and had full platelet, T and B lymphocyte recovery within 2 years
post-transplant.
Conclusion In the past decade, there has been significant improvement in clinical and genetic diagnosis of WAS in Chinese. We demonstrated
excellent long-term survival in patients who underwent HSCT. Early workup for transplant should be advocated for children
with classical WAS before they suffer from major disease complications and morbidities.
PPW Lee and TX Chen were co-first authors and had equal contributions to the study. 相似文献
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Foti F Menghini D Petrosini L Valerio G Crinò A Vicari S Grimaldi T Mandolesi L 《Behavior genetics》2011,41(3):445-456
The present study was aimed at investigating the spatial abilities in Prader–Willi syndrome (PWS) by using the Radial Arm
Maze (RAM) task. We trained PWS individuals with the deletion subtype in two different RAM paradigms that tapped different
aspects of spatial memory. To evaluate the extent of spatial deficit in PWS individuals, it seemed interesting to compare
their performances with those of individuals with Williams syndrome (WS) in which deficits in spatial abilities have been
well described. The two syndromic groups were compared to typically developing (TD) individuals mental-age and gender matched.
The findings evidenced the impairment of PWS individuals in solving the RAM task with variable severity depending on the paradigm
requests. Since the RAM is a task that allows the acquisition of spatial competences through the movement, we advance that
the spatial deficits observed in PWS individuals may be related to the malfunctioning of spatial and motor integrative processing. 相似文献
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患者。男,42岁,农民。因四肢麻木、震颤2月余,4天来加重伴复视、反应迟钝、行走不稳,于1996年10月24日入院。既往有酗酒史10余年,每日平均500克左右。2月前出现四肢末端麻木,伴时有蚁行感,有轻微震动,并逐渐加重。4天前视物成双,反应迟钝,行走不稳。体检:T37℃,P88次/分,R21次/分,BP20/12kPa。 相似文献
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Pixley JS Patchin GM 《BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy》1997,7(5):356-365
Felty's syndrome is a complication of rheumatoid arthritis whereby patients develop neutropenia of varying severity. Although the main clinical concern is the development of serious infections, often patients remain asymptomatic or continue with clinical problems related to the rheumatoid arthritis and not to the neutropenia. There is now considerable clinical experience with the use of the recombinant human haemopoietic growth factors granulocyte and granulocyte-macrophage colony-stimulating factors (G-CSF and GM-CSF) in the treatment of patients with Felty's syndrome. The only indication for the use of either growth factor for Felty's syndrome is the onset of infectious complications, which may be recurrent and serious. In general, when this occurs, the neutropenia is severe (<10(8) cells/L). The mechanism(s) underlying development of the neutropenia in Felty's syndrome is similar to that in other forms of immune-mediated neutropenia, and in general is associated with a terminal defect in neutrophil maturation. It is likely that the maturational defect is a consequence of ;immune based' inhibition, although we lack detailed understanding of this inhibitory process. Growth factor therapy does not relieve the defect in terminal maturation, but in general may induce a significant improvement in the peripheral white cell count. Instances where growth factor therapy does not work appear to be due to an inability to overcome the maturational defect. Thus, the level of granulopoietic inhibition mediated by the rheumatoid process varies in severity among patients. To date, treatment options for Felty's syndrome have included disease-modifying antirheumatic drugs, corticosteroids and splenectomy. The addition of growth factor therapy is a welcome addition to these less than optimal treatment options. However, all of the above therapies fail on occasion. Moreover, the dosage and frequency of growth factors must be titrated to keep the white blood cell count <5 x 10(9) cells/L, since overshoot may result in complications, the most common being exacerbation of the rheumatoid arthritis. Another mechanism by which these drugs may exacerbate rheumatoid arthritis is through activation of neutrophils. The addition of disease-modifying drugs may relieve the maturational defect, improve the peripheral white cell count and minimise disease exacerbation by limiting neutrophil exposure to the administered haemopoietic growth factor. However, long term monotherapy with G-CSF has been successfully employed without requiring disease-modifying therapy. 相似文献
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Wiskott–Aldrich Syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans
Wiskott–Aldrich Syndrome protein (WASp) regulates the cytoskeleton in hematopoietic cells and mutations in its gene cause the Wiskott–Aldrich Syndrome (WAS), a primary immunodeficiency with microthrombocytopenia, eczema and a higher susceptibility to develop tumors. Autoimmune manifestations, frequently observed in WAS patients, are associated with an increased risk of mortality and still represent an unsolved aspect of the disease. B cells play a crucial role both in immune competence and self-tolerance and defects in their development and function result in immunodeficiency and/or autoimmunity. We performed a phenotypical and molecular analysis of central and peripheral B-cell compartments in WAS pediatric patients. We found a decreased proportion of immature B cells in the bone marrow correlating with an increased presence of transitional B cells in the periphery. These results could be explained by the defective migratory response of WAS B cells to SDF-1α, essential for the retention of immature B cells in the BM. In the periphery, we observed an unusual expansion of CD21low B-cell population and increased plasma BAFF levels that may contribute to the high susceptibility to develop autoimmune manifestations in WAS patients. WAS memory B cells were characterized by a reduced in vivo proliferation, decreased somatic hypermutation and preferential usage of IGHV4-34, an immunoglobulin gene commonly found in autoreactive B cells.In conclusion, our findings demonstrate that WASp-deficiency perturbs B-cell homeostasis thus adding a new layer of immune dysregulation concurring to the increased susceptibility to develop autoimmunity in WAS patients. 相似文献