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排序方式: 共有218条查询结果,搜索用时 15 毫秒
91.
92.
Rolain JM Mathai E Lepidi H Somashekar HR Mathew LG Prakash JA Raoult D 《Emerging infectious diseases》2006,12(3):483-485
We report the first laboratory-confirmed human infection due to a new rickettsial genotype in India, "Candidatus Rickettsia kellyi," in a 1-year-old boy with fever and maculopapular rash. The diagnosis was made by serologic testing, polymerase chain reaction detection, and immunohistochemical testing of the organism from a skin biopsy specimen. 相似文献
93.
94.
Non-metastatic neurological disease complicating neuroblastoma is well recognized. Gross papilloedema in the absence of intracranial disease as initial manifestation of neuroblastoma is reported in adults. We report for the first time a case of bilateral papilloedema in a child with neuroblastoma in the absence of intracranial disease and hypertension. 相似文献
95.
Puneeth H. Somashekar Dhanya L. Narayanan Sujatha Jagadeesh Beena Suresh Reddy D. Vaishnavi Stephanie Bielas Katta M. Girisha Anju Shukla 《American journal of medical genetics. Part A》2020,182(1):183-188
Heterogeneous nuclear ribonucleoproteins (hnRNPs) are RNA binding proteins, which aid in maturation, stabilization, and transport of mRNA. They have a significant role in cellular nucleic acid metabolism. The hnRNPs alter gene expression and are linked to various neurodegenerative disorders and cancers. Previously, six unrelated girls with developmental delay, intellectual disability, and hypotonia were found to have de novo heterozygous pathogenic missense variants in HNRNPH2, located on the X chromosome. A gain‐of‐function effect was proposed for the variant and it was thought to be lethal in males as no surviving males were identified. We describe a family with two affected siblings, one male and one female, with a known pathogenic variant in HNRNPH2, possibly due to maternal germline mosaicism. 相似文献
96.
Andrew Eiterman Ali Lahooti Somashekar G Krishna 《World journal of gastroenterology : WJG》2020,26(23):3201-3212
Pancreatic cancer has a high mortality rate with minimal proven interventions.Intraductal Papillary Mucinous Neoplasms(IPMNs) are known precursor lesions for pancreatic cancer. Identification of pancreatic cysts has improved from advances in abdominal imaging. Despite multiple revisions of the international consensus recommendations and various guidelines by other major societies,successful risk stratification of the malignant potential of mucinous pancreatic cysts remains challenging. Specifically, detection and accurate classification of advanced neoplasia(high-grade dysplasia and/or adenocarcinoma) in IPMNs is suboptimal with current diagnostic strategies. Development of interventional techniques utilizing endoscopic ultrasound include-through-the-needle microforceps biopsy, next-generation or whole genome molecular analysis of cyst fluid, and needle-based confocal laser endomicroscopy. These techniques suffer from a series of limitations in technical success, diagnostic yield, and clinical feasibility, but a combination approach may offer a solution that optimizes their cyst evaluation and risk stratification. Assessment and comparison of these techniques is restricted by lack of adequate surgical specimens for testing of diagnostic accuracy, resulting in a possible sample bias. Additional large-scale multicenter studies are needed to accumulate evidence for the utility and feasibility of their translation into clinical practice. Great strides have been made in pancreatic cyst evaluation, but further research is required to improve diagnostic accuracy and clinical management of IPMNs. 相似文献
97.
B. PLAIMAUER J. A. KREMER HOVINGA M. J. WOLFSEGGER S. SKALICKY M. SCHMIDT L. GRILLBERGER M. HASSLACHER P. KNÖBL H. EHRLICH F. SCHEIFLINGER 《Journal of thrombosis and haemostasis》2011,9(5):936-944
Summary. Background: Severe deficiency of the von Willebrand factor (VWF)‐cleaving protease ADAMTS13 as observed in acquired thrombotic thrombocytopenic purpura (TTP) is caused by inhibitory and non‐inhibitory autoantibodies directed against the protease. Current treatment with plasma exchange is considered to remove circulating antibodies and to concurrently replenish the deficient enzyme. Objectives: To explore the use of recombinant ADAMTS13 (rADAMTS13) as a potential therapeutic agent in acquired TTP, we investigated its efficacy in normalizing VWF‐cleaving activity in the presence of ADAMTS13 inhibitors. Methods: Thirty‐six plasma samples from TTP patients were adjusted to predefined inhibitor titers, and recovery of ADAMTS13 activity was analyzed following supplementation with rADAMTS13. Results: We showed a linear relation between the inhibitor titer measured and effective rADAMTS13 concentration necessary for reconstitution of VWF‐cleaving activity in the presence of neutralizing autoantibodies. Conclusions: Our results support the further investigation of the potential therapeutic applicability of rADAMTS13 as an adjunctive therapy in acquired TTP. 相似文献
98.
S. Chandrashekara Vineeta Shobha Balebail G. Dharmanand Ramesh Jois Sharath Kumar Kurugodu Mathada Mahendranath Vikram Haridas Shiva Prasad Yogesh Singh Manisha Ashwin Daware Anupama Swamy Ramaswamy Subramanian Srirama Attappa Somashekar Arun Madhanaghatta Shanthappa K. R. Anupama 《International journal of rheumatic diseases》2019,22(7):1216-1225
99.
Charles KN Chan Fran?ois Maltais Chris Sigouin Jennifer M Haddon Gordon T Ford 《Canadian respiratory journal》2007,14(8):465-472
BACKGROUND:
Patients with chronic obstructive pulmonary disease (COPD) who smoke have a greater annual rate of decline in forced expiratory volume in 1 s (FEV1) than those patients who have stopped smoking.OBJECTIVES:
To assess the effect of tiotropium on pre-dose (trough) FEV1 in patients with COPD followed in Canada.METHODS:
A total of 913 patients were randomly assigned to receive either tiotropium 18 μg once daily (n=608) or placebo (usual care minus inhaled anticholinergics) (n=305) for 48 weeks in the present randomized, double-blind, parallel-group study. The effect of tiotropium on measurements of lung function (FEV1, FEV6 and forced vital capacity), symptoms, health-related quality of life (St George’s Respiratory Questionnaire) and exacerbations were examined.RESULTS:
Tiotropium improved trough FEV1 in both current and ex-smokers compared with placebo. Baseline FEV1 in smokers and ex-smokers was 1.03 L and 0.93 L, respectively (P<0.001). At week 48, the mean difference between the tiotropium and placebo groups was 0.14±0.04 L (P<0.001) in the smoker group and 0.08±0.02 L (P<0.0001) in the ex-smoker group. Tiotropium also significantly improved trough forced vital capacity and FEV6 compared with placebo throughout the treatment period (P<0.05, for all). Furthermore, tiotropium significantly improved the St George’s Respiratory Questionnaire total score compared with placebo at week 48 (40.9 versus 43.7 units, P<0.005).CONCLUSIONS:
Compared with the placebo group, tiotropium provides sustained improvements in lung function in patients with COPD, with improvements for smokers and ex-smokers. 相似文献100.
A validated gene expression model of high-risk multiple myeloma is defined by deregulated expression of genes mapping to chromosome 1 总被引:4,自引:0,他引:4
Shaughnessy JD Zhan F Burington BE Huang Y Colla S Hanamura I Stewart JP Kordsmeier B Randolph C Williams DR Xiao Y Xu H Epstein J Anaissie E Krishna SG Cottler-Fox M Hollmig K Mohiuddin A Pineda-Roman M Tricot G van Rhee F Sawyer J Alsayed Y Walker R Zangari M Crowley J Barlogie B 《Blood》2007,109(6):2276-2284