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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.
《Journal of vascular and interventional radiology : JVIR》2022,33(5):518-524.e3
PurposeTo compare the characteristics of polidocanol (POL) and ethanolamine oleate (EO) sclerosing foams produced by a Shirasu porous glass membrane (SPGM) device with those made using a 3-way stopcock (3WSC).Materials and MethodsFoam half-life times were measured in an ex-vivo benchtop study. Computed tomography (CT) images of each foam were obtained over the time course, and a CT texture analysis was conducted. The bubble size in each foam was measured by an optical microscope.ResultsMedian foam half-life times were longer in the SPGM group than in the 3WSC group (POL: 198 vs 166 s, P = .02; EO: 640 vs 391 s, P < .01). In the CT texture analysis, median standard deviation (SD) and entropy (randomness) were lower, and median energy (uniformity) and gray-level cooccurrence matrix (GLCM) homogeneity were higher in the SPGM group than in the 3WSC group (POL SD: at 30 s and 50–300 s; POL entropy: at 0–60 s; EO SD: at 0–600 s; EO entropy: at 0–460 s; POL energy: at 0–40 s; POL GLCM homogeneity: at 0–250 s; EO energy: at 0–360 s; EO GLCM homogeneity: at 0–480 s; all P < .05). Median bubble diameters in the SPGM group and in the 3WSC group were 69 and 83 μm (P < .01), respectively, in the POL foam; and 36 and 36 μm (P = .45), respectively, in the EO foam.ConclusionsPOL and EO foams had greater uniformity and longer foam half-life time when prepared with an SPGM device than with a 3WSC. 相似文献
3.
目的 探究预防性静滴钾离子、镁离子对急性心梗后并发室性心律失常的预防作用。方法 选择2015年1月-2018年1月于西宁市第一人民医院进行治疗的78例急性心肌梗死患者为研究对象,按照随机数字表法将其均分为观察组与对照组,每组各39例患者。对照组患者进行常规急性心梗治疗,观察组患者在对照组基础上加用门冬氨酸钾镁进行治疗,对比两组治疗有效率,对比两组治疗前后血液流变学指标纤维蛋白原(Fib)、凝血酶原时间(PT)、血小板计数(Plt),对比两组治疗期间不良反应发生率及心律失常发生率。结果 治疗后,观察组患者治疗有效率为87.18%,对照组为76.92%,两组对比差异具有统计学意义(P<0.05)。治疗前两组患者Fib、PT以及Plt水平对比差异不具有统计学意义;治疗后,两组患者Plt及Fib水平低于治疗前,PT水平高于治疗前,差异有统计学意义(P<0.05);治疗后观察组患者Plt及Fib水平低于对照组,PT水平高于对照组(P<0.05)。观察组患者不良反应发生率稍高于对照组,但对比差异不具有统计学意义。观察组心律失常发生率为7.69%,对照组为15.38%,两组对比差异具有统计学意义(P<0.05)。结论 预防性静滴钾离子与镁离子能够显著降低急性心梗患者心律失常发生率,同时有利于提高治疗有效率,改善其血流变指标,且安全性较高。 相似文献
4.
将起始原料ACLE·HCl首先与7-位侧链噻二唑化合物TATD反应,然后再与吡唑化合物UBT进行反应,并用三氟乙酸进行脱保护基反应。最后经过纯化析晶,合成头孢洛扎硫酸盐。该工艺得到头孢洛扎硫酸盐的纯度高,原料易得,纯化时不需要过柱,更适合工业化生产。 相似文献
5.
Carmen Cuffari Steven L Ciciora Masakazu Ando Mena Boules Joseph M Croffie 《World journal of gastroenterology : WJG》2020,26(40):6260-6269
BACKGROUND Bowel preparation in children can be challenging.AIM To describe the efficacy, safety, and tolerability of sodium picosulfate, magnesium oxide, and citric acid(SPMC) bowel preparation in children.METHODS Phase 3, randomized, assessor-blinded, multicenter study of low-volume, divided dose SPMC enrolled children 9-16 years undergoing elective colonoscopy. Participants 9-12 years were randomized 1:1:1 to SPMC ? dose × 2, SPMC 1 dose × 2, or polyethylene glycol(PEG). Participants 13-16 years were randomized 1:1 to SPMC 1 dose × 2 or PEG. PEG-based bowel preparations were administered per local protocol. Primary efficacy endpoint for quality of bowel preparation was responders(rating of ‘excellent' or ‘good') by modified Aronchick Scale. Secondary efficacy endpoint was participant's tolerability and satisfaction from a 7-item questionnaire. Safety assessments included adverse events(AEs) and laboratory evaluations.RESULTS 78 participants were randomized, 48 were 9-12 years, 30 were 13-16 years. For the primary efficacy endpoint in 9-12 years, 50.0%, 87.5%, and 81.3% were responders for SPMC ? dose × 2, SPMC 1 dose × 2, and PEG groups, respectively. Responder rates for 13-16 years were 81.3% for SPMC 1 dose × 2 and 85.7% for PEG. Overall, 43.8% of participants receiving SPMC 1 dose × 2 reported it was ‘very easy' or ‘easy' to drink, compared with 20.0% receiving PEG. Treatment-emergent AEs were reported by 45.5% of participants receiving SPMC 1 dose × 2 and 63.0% receiving PEG.CONCLUSION SPMC was an efficacious and safe for bowel preparation in children 9-16 years, with comparable efficacy to PEG. Tolerability for SPMC was higher compared to PEG. 相似文献
6.
目的探讨对妊娠高血压综合征患者给予硫酸镁联合硝苯地平以及酚妥拉明治疗的临床效果。方法抽取医院在2018年2月-2019年2月所接收的156例妊娠高血压综合征患者,将其按照数字随机表的方法分为单纯组和联合组,每组分别为78例。单纯组给予单纯的硫酸镁进行治疗,联合组在单纯组给予硝苯地平以及酚妥拉明进行联合治疗,比较患者的治疗效果。结果联合组的治疗有效率显著高于单纯组,治疗前血压水平差异无统计学意义(P>0.05),治疗后联合组的收缩压和舒张压水平均低于单纯组,P<0.05,两组差异有统计学意义。结论对妊娠高血压综合征患者给予硫酸镁联合硝苯地平和酚妥拉明进行联合治疗,有效改善患者的血压水平。 相似文献
7.
《药学学报(英文版)》2020,10(7):1294-1308
A great challenge in multi-targeting drug discovery is to identify drug-like lead compounds with therapeutic advantages over single target inhibitors and drug combinations. Inspired by our previous efforts in designing antitumor evodiamine derivatives, herein selective histone deacetylase 1 (HDAC1) and topoisomerase 2 (TOP2) dual inhibitors were successfully identified, which showed potent in vitro and in vivo antitumor potency. Particularly, compound 30a was orally active and possessed excellent in vivo antitumor activity in the HCT116 xenograft model (TGI = 75.2%, 150 mg/kg, p.o.) without significant toxicity, which was more potent than HDAC inhibitor vorinostat, TOP inhibitor evodiamine and their combination. Taken together, this study highlights the therapeutic advantages of evodiamine-based HDAC1/TOP2 dual inhibitors and provides valuable leads for the development of novel multi-targeting antitumor agents. 相似文献
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10.
Marcin Kozakiewicz 《Materials》2021,14(2)
Background: Magnesium has been used as degradable fixation material for osteosynthesis, but it seems that mechanical strength is still a current issue in these fixations. The aim of this study was to evaluate the axial pull-out force of compression headless screws made of magnesium alloy during their resorption. Methods: The tests included screws made for osteosynthesis of the mandible head: 2.2 mm diameter magnesium alloy MgYREZr (42 screws) and 2.5 mm diameter polylactic-co-glycolic acid (PLGA) (42 pieces, control). The screws were resorbed in Sørensen’s buffer for 2, 4, 8, 12, and 16 weeks, and force was measured as the screw was pulled out from the polyurethane block. Results: The force needed to pull the screw out was significantly higher for MgYREZr screws than for PLGA ones (p < 0.01). Within eight weeks, the pull-out force for MgYREZr significantly decreased to one third of its initial value (p < 0.01). The dynamics of this decrease were greater than those of the pull-out force for PLGA screws (p < 0.05). After these eight weeks, the values for metal and polymer screws equalized. It seems that the described reduction of force requires taking into account when using magnesium screws. This will provide more stable resorbable metallic osteosynthesis. 相似文献