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921.
Christoffer R. Vissing BSc Nicolai Preisler MD Edith Husu MD Kira P. Prahm MD John Vissing MD PhD 《Muscle & nerve》2014,50(1):119-123
Introduction: Anoctamin 5 deficiency has recently been defined to cause limb‐girdle muscular dystrophy type 2L (LGMD2L) with pronounced hyperCKemia. No treatment interventions have been made so far in this condition. Methods: In 6 patients with LGMD2L, we studied the effect of home‐based, pulse‐watch monitored, moderate‐intensity exercise on a cycle ergometer for 30 minutes, 3 times weekly, for 10 weeks. Plasma creatine kinase (CK) was assessed before, during, and after the program as a marker of muscle damage. Primary outcome measures were maximum oxygen uptake (VO2max) and time in the 5‐repetitions‐sit‐to‐stand test (FRSTST). Results: Training resulted in improvements in VO2max (27 ± 7%; P = 0.0001) and FRSTST time (35 ± 12%; P = 0.007). Improvements in physiologic and functional muscle testing were accompanied by stable CK levels and no reports of adverse effects. Conclusions: These findings suggest that supervised aerobic exercise training is safe and effective in improving oxidative capacity and muscle function in patients with anoctamin 5 deficiency. Muscle Nerve 50 : 119–123, 2014 相似文献
922.
923.
《Journal of clinical epidemiology》2014,67(1):93-99
ObjectivesThe EuroQol Group recently released youth (Y) and 5-level (5L) versions of its 3-level EQ-5D instrument (3L) that measures health-related quality of life. In this study, we (1) compare 3L, Y, and 5L responses among US adults and (2) assess construct validity.Study Design and SettingUsing a nationally representative sample of US adults (N = 2,619), we collected 3L, Y, and 5L responses in random order and estimated their associations and their relationship with a 0 to 100 numerical visual analog scale.ResultsThe prevalence of US adults in the best possible EQ-5D state (i.e., 11111) was lower for the Y (38%) and 5L (35%) than for the 3L (44%), capturing more health problems. However, the prevalence of extreme responses in pain/discomfort and anxiety/depression decreased substantially between the 3L and 5L (from 44% to 17% and from 29% to 13%, respectively).ConclusionCompared with the 3L, the Y and 5L versions describe population health as having more, yet milder, health problems. Although the 5L may have advantages in patient populations in which extreme problems are more prevalent, population studies or studies that follow patients from childhood may consider using the Y. 相似文献
924.
Marit Stockfelt Karin Christenson Anders Andersson Lena Bjrkman Mdea Padra Bettina Brundin Koustav Ganguly Helga Asgeirsdottir Sara Lindn Ingemar Qvarfordt Johan Bylund Anders Lindn 《Journal of innate immunity》2020,12(6):480
There is incomplete mechanistic understanding of the mobilization of neutrophils in the systemic and local compartment in smokers with chronic obstructive pulmonary disease (COPD). In this pilot study, we characterized how the adhesion molecules CD11b and CD62L, surface markers indicative of priming, are altered as neutrophils extravasate, and whether surface density of CD11b and CD62L differs between long-term tobacco smokers (LTS) with and without COPD compared with healthy never-smokers (HNS). Unstimulated blood neutrophils from LTS with (n = 5) and without (n = 9) COPD displayed lower surface density of CD62L compared with HNS (n = 8). In addition, surface density of CD11b was higher in bronchoalveolar lavage (BAL) neutrophils from LTS without COPD compared with those with COPD and HNS. Moreover, in BAL neutrophils from all study groups, CD62L was lower compared with matched blood neutrophils. In addition, BAL neutrophils responded with a further decrease in CD62L to ex vivo TNF stimulation. Thus, neutrophils in the airway lumen display a higher state of priming than systemic neutrophils and bear the potential to be further primed by local cytokines even with no smoking or the presence of COPD, findings that may represent a universal host defense mechanism against local bacteria. Moreover, systemic neutrophils are primed in LTS regardless of COPD. Further studies in larger materials are warranted to determine whether the priming of neutrophils is protective against COPD or merely preceding it. 相似文献
925.
A neocortical hypothesis as to homology of certain nuclear components of the avian brain proposes that the entopallium and field L2 are homologous to layer 4 of mammalian extrastriate and auditory neocortex, respectively. However, the hypothesis lacks support from the neurochemistry of thalamopallial projections. We investigated whether these projections are glutamatergic by injecting cholera toxin B into either the entopallium or field L2 in combination with in situ hybridization. Retrogradely labeled neurons in nucleus rotundus and nucleus ovoidalis were found to express vesicular glutamate transporter 2 mRNA, showing that the thalamopallial projections are glutamatergic. The results are consistent with the neocortical hypothesis. 相似文献
926.
AiHua Chang Zhen Cai ZhiHong Wang ShengKai Sun 《African journal of traditional, complementary, and alternative medicines》2014,11(2):245-248
Background
Alkaloids of Sophora alopecuroides have good biological activity, and are widely used in clinical settings, which not only have pharmacological activities of anti-cancer, cancer suppression, as well as the inhibition, and killing of various microorganisms; but also possess extensive pharmacological effects on immune system, nervous system and cardiovascular system. The objective of this paper was to extract and isolate total alkaloids of Sophora alopecuroides (TASA), and to study their anti-tumor effects in H22 tumor-bearing mice.Materials and Methods
TASA were extracted and isolated using thin-layer chromatography, and column chromatography; and the isolated compounds were analyzed using nuclear magnetic resonance. The inhibitory effects of TASA on tumor in H22-bearing mice were determined by MTT assay.Results
Three compounds were isolated from Sophora alopecuroides L., which were matrine, oxymatrine and sophoridine, respectively. Meanwhile, mouse H22 sarcoma model was established and different doses of TASA apparently inhibited solid H22-tumor in mice; it inhibited the thymus, and spleen to some extent; the degree of inhibition was more obvious for the spleen.Conclusion
TASA has an anti-tumor effect in H22 tumor-bearing mice. 相似文献927.
Livia Bernardi Chiara Cupidi Francesca Frangipane Maria Anfossi Maura GalloMaria Elena Conidi Franca VassoRosanna Colao Gianfranco PuccioSabrina A.M. Curcio Maria MirabelliAlessandra Clodomiro Raffaele Di LorenzoNicoletta Smirne Raffaele MalettaAmalia C. Bruni 《Neurobiology of aging》2014
Prion protein gene mutations have been associated with clinical pictures mimicking neurodegenerative diseases different from inherited prion diseases (IPD). We report a novel missense P39L mutation in the N-terminal domain of prion protein in 2 patients affected by frontotemporal lobar degeneration syndrome, negative for mutations in genes causative of dementia. Neither the first carrier, a 67-year-old male in which the onset was a progressive non-fluent aphasia, nor the second carrier, a 78-year-old male affected by frontotemporal dementia and parkinsonism, showed any clinical or instrumental findings suggestive of IPD. Genetic screening of healthy controls and in silico analysis provide support for the potential pathogenicity of this variant. Patient phenotypes, unclassifiable as prion disease, may depend on the location of the mutation in the N-terminal domain, outside the amyloid core of pathologic prion protein, although further functional studies are required to determine whether and how this mutation exerts its pathogenic effect. However, genetic screening of prion protein gene becomes relevant in familial degenerative dementia, particularly in geographical areas with high IPD prevalence. 相似文献
928.
《Biology of blood and marrow transplantation》2014,20(3):309-313
Hematopoietic stem cell (HSC) transplantation has curative potential for patients with hematological malignancies. Clinically, HSCs derived from mobilized peripheral blood are used more frequently than bone marrow. However, current standard mobilizing agents yield grafts that may not contain sufficient HSCs. Here, using murine models, we discovered that FLT3L synergized with plerixafor to mobilize phenotypically defined HSCs and their combination (FP) was superior to granulocyte colony-stimulating factor (G-CSF) alone or in combination with plerixafor (GP). Additionally, FP mobilized more regulatory T cells, natural killer cells, and plasmacytoid dendritic cells compared with G-CSF alone or GP. Both syngeneic and allogeneic grafts mobilized by FP led to long-term survival in transplanted mice. Collectively, FP represents a promising novel and potent mobilization regimen with potential clinical application in both the autologous and allogeneic transplantation settings. 相似文献
929.
《Journal of clinical virology》2014,59(3):161-166
BackgroundHigh risk human papillomavirus (HR-HPV) infection is common and only a small minority of infections become persistent and lead to cervical cancers. Women positive for HR-HPV usually require a second test to avoid unnecessary colposcopies and over treatment. Elevated DNA methylation of HR-HPV L1 and L2 genes in high grade disease has emerged as a promising molecular triage tool.ObjectivesOur aim was to accurately measure methylation levels at selected CpG positions in the HPV18, HPV31 and HPV33 genomes. We focused on the L2, L1, URR and E6 regions because these were previously shown to be interesting areas for study.Study designPyrosequencing was used to measure methylation in 208 HPV18, 207 HPV31, and 126 HPV33 positive women selected from a London colposcopy referral population.ResultsAfter adjustment for multiple testing, at FDR 5%, elevated methylation was significantly associated with cervical intraepithelial neoplasia grades 2 or worse (CIN2+) in all investigated CpGs in HPV18 L2 and L1. Two of 6 L2 and 12 of 15 L1 sites in HPV31 and 6 of 8 L2 and 3 of 13 L1 sites in HPV33 showed significantly elevated methylation in CIN2+. Methylation of CpG sites in the URR and E6 region of the HPV types was low and most differences were not significant.ConclusionElevated methylation of CpG sites in the L1 and L2 regions of HPV18, HPV31 and HPV33 is associated with CIN2+ and a panel test may be useful for triage of women with HR-HPV infections. 相似文献
930.
Dimitri Poddighe Lorenzo Cavagna Valeria Brazzelli Paola Bruni Gian Luigi Marseglia 《Autoimmunity reviews》2014,13(11):1142-1148
Juvenile dermatomyositis is an immune-mediated inflammatory multi-system disease involving mainly striated muscles and skin. Typical dermatological features are fundamental to establish the diagnosis, especially whenever the myopathy is very mild or absent, as it occurs in the form called as amyopathic juvenile dermatomyositis. Sometimes, systemic rheumatic diseases can develop a hyperferritinemia syndrome characterized by hemophagocytosis, namely macrophage activation syndrome, which represents a severe and life-threatening complication. Here, we describe a complex clinical history characterized by a hyper-ferritinemia syndrome after infectious mononucleosis, leading to recurrent episodes of macrophage activation syndrome. Finally, the late onset of several skin changes brought to a diagnosis of amyopathic juvenile dermatomyositis. 相似文献