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1.
《European journal of medical genetics》2022,65(6):104495
Spondyloepimetaphyseal dysplasias (SEMDs) belong to a clinically and genetically heterogeneous group of inherited skeletal disorders defined by a defect in the growth and shape of vertebrae, epiphyses and metaphyses. Rhizomelic SEMD is characterized by a disproportionate small stature caused by severe shortening and deformation of the limbs’ proximal bones, with the cranio-facial sphere unaffected. We report a second individual, an 8-year-old girl, with autosomal recessive rhizomelic SEMD associated with a homozygous exonic missense variant, c.226G > A p.(Glu76Lys), in GNPNAT1 identified by trio genome sequencing. Our data corroborate the recent findings of Ain et al. and further delineate the clinical and radiographic features of this form of SEMD associated with rhizomelic dysplasia while outlining a potential hotspot in this newly described genetic disorder. 相似文献
2.
目的 发现四物汤的新药理作用并辨识其有效成分群。方法 于GEO和Cmap数据库获取四物汤和1309个小分子药物的基因表达谱,计算差异表达基因及四物汤与1309个小分子药物的基因表达谱间的相似性,相似性较高的小分子药物的药理作用为四物汤的新药理作用。相似性较高的小分子药物的靶点作为四物汤发挥新药理作用的靶标,利用分子对接技术辨识四物汤的有效成分群。结果 四物汤具有抗乳腺癌的作用,其有效成分群为荭草苷、芍药苷和半乳糖醛酸等,并通过文献调研验证了辨识结果的可靠性。结论 本研究将为扩大四物汤的临床应用范围及质量控制奠定基础,为乳腺癌的治疗提供新方法。 相似文献
3.
Stephan Koter Tina U. Cohnert Korbinian B. Hindermayr Jörg Lindenmann Maximilian Brückner Wolfgang K. Oswald Georg Werkgartner Doris Wagner 《Journal of vascular surgery》2019,69(4):1227-1232
Objective
Low psoas muscle area is shown to be an indicator for worse postoperative outcome in patients undergoing vascular surgical. Additionally, it has been associated with longer durations of hospital stay in patients with cancer who undergo surgery and subsequently greater health care costs in Europe and the United States. We sought to evaluate this effect on hospital expenditure for patients undergoing vascular repair in a health care system with universal access.Methods
Skeletal muscle mass was assessed on preoperative abdominal computed tomography scans of patients undergoing open aortic aneurysm repair in a retrospective fashion. The skeletal muscle index (SMI) was used to define low muscle mass. Health care costs were obtained for all patients and the relationship between a low SMI and higher costs was explored using linear regression and cross-sectional analysis.Results
We included 156 patients (81.5% male) with a median age of 72 years undergoing elective surgery for infrarenal abdominal aortic aneurysm in this analysis. The median SMI for patients with low skeletal muscle mass was 53.21 cm2/kg and for patients without, 70.07 cm2/kg. Hospital duration of stay was 2 days longer in patients with low skeletal muscle mass as compared with patients with normal (14 days vs 11 days; P = .001), as was duration of intensive care stay (3 days vs 1 day; P = .01). The median overall hospital costs were €10,460 higher for patients with a low SMI as compared with patients with a normal physical constitution (€53,739 [interquartile range, €45,007-€62,471] vs €43,279 [interquartile range, €39,509-€47,049]; P = .001). After confounder adjustment, a low SMI was associated with a 14.68% cost increase in overall hospital costs, for a cost increase of €6521.Conclusions
Low skeletal muscle mass is independently associated with higher hospital as well as intensive care costs in patients undergoing elective aortic aneurysm repair. Strategies to reduce this risk factor are warranted for these patients. 相似文献4.
5.
Immunity-related GTPase family M1 protein (lRGM1) plays an important role in host resistance to infection, immune inflammation, and tumors, and it is expressed in various tissues and cells, including the central nervous system, cardiovascular system, bone marrow-derived cells, glioma, and melanoma. However, the effect of IRGM1 in the muscles has not been reported to date. In this study, Irgm1−/− mice were used to evaluate the effect of lrgm1 on regeneration after skeletal muscle injury. The tibialis anterior muscle in Irgm1−/− mice was poorly repaired after BaCl2-induced injury, whereas lrgm1 knockout itself had no significant effect on the differentiation of myoblasts. However, the microenvironment of Irgm1−/− mice with a high interferon-gamma level inhibited the differentiation of myoblasts in vivo. These results suggest that lrgm1 knockout indirectly inhibits skeletal muscle regeneration after injury, providing new insights into the biological function of IRGM1. 相似文献
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