网织红细胞未成熟分数在肿瘤放化疗中的临床意义

目的：了解肿瘤病人放化疗过程中网织红细胞参数的变化情况,以便确定反映骨髓造血功能抑制和恢复的早期指标。方法：采用SysmexXT-2000i全自动血细胞分析仪对30例实体肿瘤患者放化疗前后外周血白细胞数（WBC）、中性粒细胞数（NEU）、网织红细胞百分数（Ret%）、网织红细胞未成熟分数（IRF）进行检测。结果：与放化疗前相比,放化疗后IRF于第3天明显下降（P〈0.01）,较WBC、NEU明显下降平均要早3天,且IRF第9天较第6天有所上升但（P〉0.05）。结论：IRF可作为肿瘤病人放化疗过程中反映骨髓造血功能抑制和恢复的早期指标。     

First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study

We report the clinical features, electrophysiological findings and genetic characteristics of the first two Taiwanese siblings ever reported with sialidosis type I. We also provide a 10-year follow-up result. Enzymological analysis revealed a primary sialidase deficit. The back-averaged electroencephalography demonstrated myoclonic jerk-related cortical activities and the somatosensory evoked potential studies revealed giant cortical components. During the 10-year follow-up, the brain magnetic resonance images of the younger brother remained normal, whereas they showed mild cerebellar atrophy in the older sister. Macular cherry red spots were absent in both siblings. However, visual evoked potential revealed progressively prolonged latencies of P100 bilaterally, which was consistent with progressive deterioration of the siblings' visions. DNA analysis showed that the siblings had a homozygous missense point mutation c.544A-->G (Ser182Gly) in the exon 3 of the alpha-N-acetyl-neuraminidase (NEU1) gene. The mutation is predicted to cause a decreased sialidase activity but the mutant sialidase can still be targeted to the lysosomes, which may correlate with the mild clinical phenotypes and absent cherry red spots in the siblings.     

Sialidoses

Sialidoses are autosomal recessive disorders caused by NEU1 gene mutations and are classified on the basis of their phenotype and onset age. Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and developmental delay while patients with the late and milder type, known as “cherry red spot‐myoclonus syndrome” develop myoclonic epilepsy, visual impairment and ataxia in the second or third decade of life. The diagnosis is usually suggested by increased urinary bound sialic acid excretion. We recently described genetically diagnosed patients with a specially mild phenotype, no retinal abnormalities and normal urinary sialic acid. This observation suggests that genetic analysis or the demonstration of the neuraminidase enzyme deficiency in cultured fibroblasts are needed to detect and diagnose mildest phenotypes.     

柴黄颗粒联合奥司他韦治疗小儿急性上呼吸道感染的临床研究

目的 探讨柴黄颗粒联合磷酸奥司他韦颗粒治疗小儿急性上呼吸道感染的临床疗效.方法 以2018年7月—2020年7月在中国人民解放军联勤保障部队第九八八医院进行治疗的154例急性上呼吸道感染患儿为研究对象.根据就诊顺序分为对照组(77例)和治疗组(77例).对照组口服磷酸奥司他韦颗粒,体质量≤15 kg,30 mg/次,2...