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Objective To investigate the effect of early cerebrospinal fluid replacement on nuclear factor-κB (NF-κB) level and clinical outcomes in patients with aneurismal subarachnoid hemorrhage (aSAH) after endovascular embolization.Methods Patients with aSAH received aneurysm embolization were enrolled.They were divided into a cerebrospinal fluid replacement group and a non-cerebrospinal fluid replacement group according to the treatment scheme.All patients were treated with cerebral aneurysm coil embolization within 3 days after admission.The cerebrospinal fluid replacement group performed lumbar puncture cerebrospinal fluid replacement within 24 h after coil embolization,once every other day,20-30 ml of cerebrospinal fluid was replaced each time and 3 mg dexamethasone was injected intrathecally.The NF-κB levels in cerebrospinal fluid were detected at day 1,7 and 14 after the coil embolization.The primary outcome measures were the clinical outcomes determined by the modified Rankin scale (mRS) and the Glasgow outcome scale (GOS) at 3 months after onset.Good outcome was defined as mRS score 0-2 or GOS ＞ 3.The secondary outcome measures included severe complications (hydrocephalus,cerebral vasospasm,cerebral infarction,and rebleeding) and death.Results A total of 81 patients with aSAH received aneurysm embolization were enrolled,including 42 in the cerebrospinal fluid replacement group and 39 in the non-cerebrospinal fluid replacement group.There was no significant differences in the baseline data between the cerebrospinal fluid replacement group and the non-cerebrospinal fluid replacement group (all P ＞0.05).The duration of neck stiffness in the cerebrospinal fluid replacement group was significantly shorter than that in the non-cerebrospinal fluid replacement group (11.3 ± 3.2 d vs.16.5 ± 3.5 d;t =6.985,P ＜ 0.001).The cerebrospinal fluid NF-κB levels were progressively reduced at day 1,7 and 14 after coil embolization in the cerebrospinal fluid rephcement group and non-cerebrospinal fluid rephcement group (all P ＜0.05),but the ccerebrospinal fluid levels of NF-κB in the cerebrospinal fluid replacement group at each time point were significantly lower than those in the non-cerebrospinal fluid replacement group (all P ＜ 0.01).The good outcome rates evaluated according to the mRS score (92.9％ vs.56.4％;x2 =14.446,P ＜ 0.001) and GOS score (97.6％ vs.76.9％;x2 =8.004,P=0.005) in the cerebrospinal fluid replacement group at 3 months were significantly higher than those in the non-cerebrospinal fluid replacement group,and the incidence of cerebral vasospasm was significantly lower than that in the non-cerebrospinal fluid replacement group (14.3％ vs.33.3％;x2 =4.086,P =0.043).Conelusiom Cerebrospinal fluid replacement therapy can reduce the incidence of cerebral vasospasm in patients with aSAH receiving aneurysm embolization and improve clinical outcomes.Its mechanism may be associated with the decrease of NF-κB level in cerebrospinal fluid.
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<p><b>OBJECTIVE</b>To analyze clinical features and genetic mutations in a Chinese family affected with autosomal dominant caveolinopathies.</p><p><b>METHODS</b>Clinical data of the proband and her family members were collected. Genomic DNA was extracted from peripheral blood samples with a standard procedure. Next generation sequencing was carried out for the proband, and direct sequencing was employed to detect potential mutation of the CAV gene.</p><p><b>RESULTS</b>The proband presented with slowly progressing distal muscle weakness and atrophy, especially distal upper limbs and muscular soreness during early childhood, with her CK level moderately elevated and EMG showing myogenic and neurogenic injuries. Her sisters presented mild symptoms with hand muscle atrophy and fasciculation after exercise. A heterozygous missense mutation c.80G>A (p.Arg27Gln), which was reported as being pathogenic, was identified in the CAV3 gene in the proband and her sisters.</p><p><b>CONCLUSION</b>A heterozygous c.80G>A (p.Arg27Gln) mutation in the CAV3 gene probably underlies the autosomal dominant caveolinopathies in this Chinese family.</p>