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排序方式: 共有921条查询结果,搜索用时 15 毫秒
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SK Selvanathan A Shenton R Ferner AJ Wallace SM Huson RT Ramsden DG Evans 《Clinical genetics》2010,77(2):163-170
Selvanathan SK, Shenton A, Ferner R, Wallace AJ, Huson SM, Ramsden RT, Evans DG. Further genotype–phenotype correlations in neurofibromatosis 2. Neurofibromatosis 2 (NF2) is caused by mutations in the NF2 gene predisposing carriers to develop nervous system tumours. Different NF2 mutations result in either loss/reduced protein function or gain of protein function (abnormally behaving mutant allele i.e. truncated protein potentially causing dominant negative effect). We present a comparison between the clinical presentations of patients with mutations that are predicted to produce truncated protein (nonsense/frameshift mutations) to those that results in loss of protein expression (large deletions) to elucidate further genotype–phenotype correlations in NF2. Patients with nonsense/frameshift mutations have a younger age of diagnosis and a higher prevalence/proportion of meningiomas (p = 0.002, p = 0.014), spinal tumours (p = 0.004, p = 0.004) and non‐VIII cranial nerve tumours (p = 0.006, p = 0.003). We also found younger age of diagnosis of vestibular schwannomas (p = 0.007), higher mean numbers of cutaneous lesions (p = 0.003) and spinal tumours (p = 0.006) in these patients. With respect to NF2 symptoms, we found younger age of onset of hearing loss (p = 0.010), tinnitus (p = 0.002), paraesthesiae (p = 0.073), wasting and weakness (p = 0.001) and headaches (p = 0.049) in patients with nonsense/frameshift mutations. Our comparison shows, additional, new correlations between mutations in the NF2 gene and the NF2 disease phenotype, and this further confirms that nonsense/frameshift mutations are associated with more severe NF2 symptoms. Therefore patients with this class of NF2 mutation should be followed up closely. 相似文献
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Kumar S Mandal AK Acharya N Thingnam SK Bhalla V Singh SK 《Urologia internationalis》2007,78(2):182-184
Superior mesenteric artery (SMA) injury is a rare event during abdominal surgery. We report the first case of inadvertent injury of the superior mesenteric artery during surgery of a large malignant adrenocortical tumor with inferior vena cava thrombus. The cause of inadvertent injury was anatomical distortion of the great vessels due to the massive nature of the tumor. The case was managed successfully by immediate end-to-end anastomosis of the superior mesenteric artery. 相似文献
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Background and Aim:
Recent studies on various populations indicate that lack of sleep is one of the potential risk factors predisposing the youth to obesity. Since there is a significant rise in obesity among Indian youth and because research indicating the role of sleep in development of obesity among Indian population is scant, the current study was undertaken to assess the effect of sleep duration on adiposity among Gujarati Indian adolescents.Materials and Methods:
A randomized cross-sectional study was done on 489 voluntarily participating Indian adolescents in the age group of 16-19 years. Participants were grouped into two categories 1). Adequate Sleep Duration at Night (more than seven hours, ASDN) and 2) Inadequate Sleep Duration at Night (less than seven hours, IASDN) as reported by the participants. The participants were later assessed for adiposity in terms of BMI, BF %, FM, FMI and waist circumference, meal frequency per day and physical activity status.Results:
In both boys as well as girls, the BMI, BF%, FM and FMI were significantly lower in the ASDN group than the IASDN group. However, there was an insignificant difference in the meal frequency and physical activity status between the ASDN and IASDN group.Conclusion:
Inadequate sleep duration increases adiposity among Gujarati Indian adolescents but further studies are required to find out the mechanisms through which sleep affects adiposity in this population. 相似文献915.
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Iman Hazra Omar Faruk SK Md Ankur Datta Somnath Mondal Saibal Moitra Manoj Kumar Singh Suhnrita Chaudhuri Prasanta Kumar Das Anjan Kumar Basu Indranil Dhar Nandita Basu Swapna Chaudhuri 《Scandinavian journal of immunology》2019,89(2)
Cryptococcus neoformans, the encapsulated yeast acquired through inhalation, remains localized in lungs, but harbours the CNS in immunocompromised individuals. Several treatment regimes have failed combating this disease totally, but long‐term usage of drugs leads to organ damage. As T11‐target structure (T11TS) has documented profound immune potentiation, we aimed to investigate the role of microglia, pivotal immune cells of brain in ameliorating cryptococcosis, with T11TS immunotherapy. Murine model with C neoformans infection was prepared by intraperitoneal injection and the brains of rats examined 7 days post‐infections for histopathology by PAS and Alcian blue staining corroborated with organ fungal burden evidencing restorative T11TS action on Cryptococcal meningitis. Immunotherapy with three doses of T11TS, a CD2 ligand, in C neoformans infected rats, upregulates toll‐like receptors 2, ?4 and ?9 of microglia, indicating increased phagocytosis of the fungus. Flowcytometric analysis revealed increased numbers of T11TS treated brain infiltrating CD4+ and CD8+ T‐lymphocytes along with increased MHC I and MHC II on microglia, activating the infiltrating lymphocytes aiding the killing mechanism. Present study also indicated that T11TS increased production of Th1 inflammatory cytokines conducive to fungal elimination while the inhibitory Th2 cytokines were dampened. This preclinical study is first of its kind to show that T11TS effected profound immune stimulation of microglial activity of C neoformans infected rats eradicating residual fungal burden from the brain and can be a useful therapeutic strategy in fighting against this deadly disease. 相似文献
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