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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.
This study deals with a series of operations to isolate the micro-cellulose from the palm tree spathe sheath by using a modified chemical method to take into account the low cost and the completion speed and its characterization using X-ray diffraction technique (XRD), infrared spectroscopy (FTIR) and scanning electron microscope coupled with element analyzer (SEM/EDX). The results showed that the extraction method succeeded in obtaining very pure microscopic fibers with a width of 2–10 μm with a crystallinity index equal to 79.21%, containing the two cellulose features Iβ and II, that, the conversion ratio of the first to the second was estimated at 32, 87%. 相似文献
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采用正交试验优选出最佳条件为:当乙酰乙酸乙酯为0.2moL时,硫酸铁铵0.7g,环乙烷10mL。乙酰乙酸乙酯和惭二醇摩尔比为1:1.5,反应时间为5h。所得产率为59.2%。 相似文献
5.
A 62-year-old woman with diabetic triopathy developed widespread erythematous macules, numerous pustules, and a high fever after she underwent electric coagulation for vitreous hemorrhage. She was administered several drugs at that time. After discontinuation of the drugs, the eruption disappeared, and the fever returned to normal within two weeks. A positive patch test with isepamicin sulfate highly suggested that the symptoms described above were due to drug allergy. Cadralazine, which was positive in the drug lymphocyte stimulation test (DLST), could not be excluded from the causative drugs. A false-positive DLST with ofloxacin was confirmed by an accidental challenge test. To our knowledge, this is the first report of acute generalized exanthematous pustulosis due to isepamicin sulfate and/or cadralazine. 相似文献
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Seishiro Hirano Takako Asami Naomi Kodama Kazuo T. Suzuki 《Archives of toxicology》1994,68(7):444-449
In a preceding study, we reported that the numbers of macrophages and polymorphonuclear leukocytes (PMN) were increased in
bronchoalveolar lavage fluid (BALF) following the intratracheal instillation of nickel sulfate (NiSO4) in rats. In the present study, BALF chemotactic activities for both macrophages and PMN were measured to investigate if
the increases of these inflammatory cells in BALF depend on increases in chemotactic activities in epithelial lining fluid
(ELF) of the lung. Both the number of PMN and the PMN chemotactic activity peaked at 2 days post-instillation and they were
significantly correlated. However, the PMN chemotactic activity was inversely correlated with concentration of leukotriene
B4 (LTB4), a well-known chemotaxin. Although PMN were not observed in control BALF, LTB4 concentration in the control ELF (ca. 5×10–7 M) was estimated to have a potential to attract PMN chemotactically through a membrane in in vitro migration assay. These
results suggest that the presence of LTB4 in ELF itself does not trigger transpulmonary PMN infiltration. The rat BALF were fractionated by high performance liquid
chromatography (HPLC), and PMN chemotactic activity of each fraction was measured. The elution profiles of PMN chemotactic
activity showed that there were at least two different chemotaxins in BALF obtained from the NiSO4-exposed rats. Macrophage chemotactic activity in BALF also peaked at 2 days post-instillation. However, the number of macrophages
was not significantly correlated with the chemotactic activity for macrophage in BALF. The HPLC study showed that the macrophage
chemotactic substance in the BALF obtained from NiSO4-exposed rats was different from complement fragment (C5a) and its MW was estimated to be 10 – 12 kD.
Received: 1 December 1993/Accepted: 16 March 1994 相似文献
9.
尼莫地平片溶出度的研究 总被引:3,自引:0,他引:3
采用转篮法对尼莫地平国产市售片,进口片和自制片在不同介质、不同转速和PH条件下的溶出度进行测试。结果表明,介质对尼莫地平溶出具有很大的影响,而最佳测定方法是以0.1%的十二烷基硫酸钠水溶液为介质,转速150r/min。 相似文献
10.
荞麦花粉抗贫血作用的实验研究 总被引:1,自引:0,他引:1
用荞麦花粉的水提取液进行了抗大白鼠缺铁性贫血的研究,结果表明:荞麦花粉具有和硫酸亚铁相似的抗缺铁性贫血作用.饮用荞麦花粉提取液35d的大白鼠,生长发育良好,主要脏器未见损害.该研究为荞麦花粉的开发利用提供了实验依据. 相似文献