De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature

BackgroundThe collagen type IV alpha 1 chain (COL4A1) is an essential component of the basement membrane in small vessels. Pathogenic variants in COL4A1 cause perinatal cerebral hemorrhages in an autosomal-dominant fashion. However, little is known about the long-term outcomes of patients with mildly affecting COL4A1 mutations.Case reportWe report a 17-year-old boy, who presented with recurrent intracranial hemorrhages in the periventricular white matter. He had been followed-up as a child with cerebral palsy bearing intracranial calcifications, developmental delay and epilepsy. Screening tests in infancy provided negative results for intrauterine infections. Severe motor and cognitive deficits persisted after admission. Carbazochrome was introduced on day 19 of admission, which appeared to prevent extension and reactivation of cerebral hemorrhages for over 6 months after discharge.ResultsTargeted sequencing of NOTCH3 and TREX1 excluded causal mutations in these genes. The whole-exome sequencing revealed that he carried a de novo mutation in COL4A1 (p.Gly696Ser). An overview of the literature for 345 cases with COL4A1 mutations supported evidence that p.Gly696Ser is associated with the unique phenotype of late-onset hemorrhage among patients with COL4A1-associated cerebral angiopathy.ConclusionsThis case first demonstrates that infants with COL4A1-associated leukoencephalopathy and calcifications have a risk for developing the rupture of small vessels in the cerebral white matter after 10 years of age.     

高渗盐水和甘露醇在动脉瘤性蛛网膜下腔出血患者降低颅内压中的应用

目的比较3%高渗盐水和20%甘露醇治疗重症动脉瘤性蛛网膜下腔出血所致颅内压增高的疗效.方法25例动脉瘤性蛛网膜下腔出血患者出现颅内压增高事件时, 随机交替接受等渗透剂量的160 mL 3%高渗盐水与150 mL 20%甘露醇进行降低颅内压治疗, 连续监测患者颅内压、平均动脉压、脑灌注压及中心静脉压.记录有效降低颅内压持续时间、颅内压最大降幅及其时间, 用药前及用药后1 h、3 h血钠水平及血浆渗透压.结果3%高渗盐水和20%甘露醇均可降低颅内压(均 P < 0.01), 两者的降低颅内压作用持续时间及颅内压降幅差异均无统计学意义(均 P >0.05).患者脑灌注压较用药前均上升(均 P < 0.01), 平均动脉压先上升后下降, 但差异无统计学意义( P >0.05).患者中心静脉压稍有波动, 但差异均无统计学意义(均 P >0.05).20%甘露醇治疗后患者血钠下降, 3%高渗盐水治疗后患者血钠值上升, 变化均有统计学意义(均 P < 0.05).20%甘露醇及3%高渗盐水治疗后患者血浆渗透压均先上升后下降, 变化均有统计学意义(均 P < 0.01). 结论3%高渗盐水可作为治疗动脉瘤性蛛网膜下腔出血所致颅内压增高患者的一线治疗药物.     

甲磺酸伊马替尼联合VDLD化疗方案治疗急性淋巴细胞白血病患儿的长期随访研究

目的探究甲磺酸伊马替尼联合VDLD化疗方案治疗急性淋巴细胞白血病(ALL)患儿的应用价值。方法选取2015年5月~2018年6月收治的74例ALL患儿,按照治疗方案不同分组。对照组(37例)实施VDLD方案治疗,联合组(37例)实施甲磺酸伊马替尼+VDLD化疗方案治疗。对比两组疗效、不良反应发生率、随访1年无复发生存率(RFS)及治疗前、治疗2个疗程后血清B淋巴细胞刺激因子(BAFF)、增殖诱导配体(APRIL)水平。结果联合组总有效率(91.89%)高于对照组(72.97%)(P<0.05);联合组治疗2个疗程后血清BAFF、APRIL水平低于对照组(P<0.05);两组不良反应发生率、随访1年RFS对比无显著差异(P>0.05)。结论甲磺酸伊马替尼联合VDLD化疗方案治疗ALL,疗效确切,能显著降低血清BAFF、APRIL水平,且安全性高。     

护士分层级管理对急性肝炎患者护理满意度的影响

目的分析护士分层级管理的实施对急性肝炎患者护理满意度的影响。方法该院自2018年3月起实施护士分层级管理,以该院10名肝病科护理人员为研究对象,其中2017年3月—2018年2月实施前(对照组)及2018年3月—2019年2月实施后(研究组)的管理效果。结果与对照组比较,研究组患者的病房管理、患者护理、文书书写、基础护理、入院宣教方面的护理质量评分均明显升高(P<0.05);与对照组82.29%的护理总满意率比较,研究组护理总满意率显著升高,达到了97.92%(P<0.05);与对照组工作自我满意度比较,研究组患者的自我价值体现等方面的工作自我满意度评分均明显升高(P<0.05)。结论护士分层级管理策略的实施,有效提高了急性肝炎患者护理满意度,提升了科室护理质量。     

Pharmacotherapeutic strategies for critical asthma syndrome: a look at the state of the art

ABSTRACT

Introduction

‘Critical Asthma Syndrome’ (CAS) is an umbrella term proposed to include several forms of asthma, responsible for acute and life-threatening exacerbations. CAS requires urgent and adequate supportive and pharmacological treatments to prevent serious outcomes.     

前列地尔联合长春西汀治疗急性脑梗死的疗效观察

目的探讨前列地尔联合长春西汀治疗急性脑梗死的疗效。方法选取2015年3-12月在我科接受治疗的90例急性脑梗死患者,随机分为治疗组(45例)和对照组(45例)。两组患者均给予抗血小板、降血脂等常规对症治疗,11 d为1个疗程。对照组给予长春西汀静脉输液治疗,治疗组在对照组基础上加以前列地尔治疗。比较两组临床治疗效果,治疗前后神经功能恢复情况、日常生活能力恢复情况、并发症发生率及安全性。结果治疗组总有效率为93.3%,对照组为71.1%,治疗组明显高于对照组,差异有统计学意义(P<0.05)。两组患者用药11 d后,神经功能缺损评分均高于治疗前,且治疗组明显高于对照组,差异均有统计学意义(P<0.05)。治疗组患者用药11d及90 d后日常生活能力恢复情况优于对照组,差异有统计学意义(P<0.05)。两组均无严重药物不良反应。结论前列地尔联合长春西汀治疗急性脑梗死疗效显著,值得临床推广应用。