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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
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《Clinical neurophysiology》2020,131(1):259-264
ObjectivesFasciculation potentials (FP) are an important consideration in the electrophysiological diagnosis of ALS. Muscle ultrasonography (MUS) has a higher sensitivity in detecting fasciculations than electromyography (EMG), while in some cases, it is unable to detect EMG-detected fasciculations. We aimed to investigate the differences of FP between the muscles with and without MUS-detected fasciculations (MUS-fas).MethodsThirty-one consecutive patients with sporadic ALS were prospectively recruited and in those, both needle EMG and MUS were performed. Analyses of the amplitude, duration, and number of phases of EMG-detected FPs were performed for seven muscles per patient, and results were compared between the muscles with and without MUS-fas in the total cohort.ResultsThe mean amplitude and phase number of FP were significantly lower in patients with EMG-detected FP alone (0.39 ± 0.25 mV and 3.21 ± 0.88, respectively) than in those with both FP and MUS-fas (1.22 ± 0.92 mV and 3.74 ± 1.39, respectively; p < 0.0001 and p = 0.017, Welch’s t-test).ConclusionSmall FP may be undetectable with MUS. MUS cannot replace EMG in the diagnostic approach for ALS.SignificanceClinicians should use a combination of EMG and MUS for the detection and quantitative analysis of fasciculation in ALS. 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.
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大鼠缺血后肢骨骼肌血管内皮生长因子及其受体的表达 总被引:1,自引:0,他引:1
目的 研究大鼠缺血后肢侧枝代偿和血管内皮生长因子(VEGF)及其受体表达的动态变化。为外源性VEGF治疗下肢缺血性疾病提供理论依据。方法 切除SD大白鼠右后肢全长股动脉,随机分为9个时间组:造模后1、3d、1、2、3、4、6、8及12周,各组5只动物。分别于造模前后和观察期末检测双后肢大、小腿肌肉Fit-1、Flk-1蛋白及mRNA表达,各组观察期末实验动物后肢动脉DSA检查。结果 (1)缺血后3d,5只大鼠右后肢出现溃疡(11.11%);2周后,4只大鼠后肢溃疡愈合,而1只趾端坏疽(2.22%)。(2)缺血后2周,患肢侧枝形成达到高峰,12周时仍可见侧支血管显影。(3)缺血早期(3周内),VEGF及其受体的表达均较健侧显著增强(P〈0.05);缺血中期(3~8周)。VEGF和Flt-1表达迅速下降,Flk-1仍表达;缺血后期(8周后),VEGF及其受体的表达均低至极低水平,与对侧差异无统计学意义(P〉0.05)。结论(1)肢体缺血后自身的血管新生不能完全满足缺血组织的需要。(2)缺血早期外源性的VEGF补充是不必要的;缺血中期补充VEGF是适宜的;缺血后期在应用VEGF治疗的同时,也需要干预受体的表达。 相似文献
7.
Gil Bolotin Frederik H. van der Veen Roberto Lorusso Tamir Wolf Robert Sachner Rona Shofti Jan J. Shreuder Gideon Uretzky 《European journal of cardio-thoracic surgery》2002,21(6):975-980
Objective: Descending and ascending aortomyoplasty are two surgical procedures intended to induce hemodynamic benefits similar to those of the intra-aortic-balloon-pump (IABP). To date, there have been no studies comparing the two surgical techniques. The objective of this study was to compare coronary blood flow augmentation and afterload reduction as produced by descending and ascending aortomyoplasty counterpulsation Methods: Twenty-two mongrel dogs (18–35 kg) underwent IABP application (n=7), descending (n=8), or ascending (n=7) aortomyoplasty. Left anterior descending (LAD) coronary artery blood flow was measured using a Transonic Doppler flow probe. Left ventricular pressure as well as aortic pressures proximal and distal to either the aortomyoplasty site or the IABP position were monitored continuously. Results: Descending aortomyoplasty induced higher elevation in the LAD blood flow during assisted beats (27% from 10.8±4 to 13.8±6 ml/min, P<0.001) than that induced by either ascending aortomyoplasty (19% from 11.7±5 to 14±5 ml/min, P<0.001) or IABP counterpulsation (18% from 8.6±3 to 10.2±4 ml/min, P<0.001). Conversely, while ascending aortomyoplasty reduced the left ventricular end-diastolic pressure by 16% (from 60±18 to 50±22 mmHg, P<0.001), similar to the 16% after load reduction achieved by the IABP counterpulsation, descending aortomyoplasty failed to induce afterload reduction. Conclusions: Descending aortomyoplasty produces higher coronary blood flow augmentation than either ascending aortomyoplasty or IABP. However, afterload reduction comparable to that achieved by IABP was observed only with ascending aortomyoplasty and not with descending aortomyoplasty. 相似文献
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目的:了解改水降氟后地氟病的防治效果。方法:水氟,尿氟测定均为电极法,氟斑牙诊断为Dean‘s法。结果:该村自1985年改饮低氟水,水氟含量由改水前的6.05mg/L降至改水后的0.48mg/L。改水后未出现新的氟骨症患者,8-12岁儿童氟斑牙患病率呈逐年下降趋势,改水后7-15年间氟斑牙病率均已稳定,表明病情得到有效控制,且达到稳定控制状态,结论:坚持长年饮用低氟水,地方性氟中毒就能得到有效控制。 相似文献