CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction

X-linked Charcot-Marie-Tooth disease, type 1 (CMTX1) is one of the most common inherited neurological disorders. Obvious CNS involvement is relatively rare in CMTX1 patients. A 24-year-old male with CMTX1 presented with three transient stroke-like attacks, and was followed up regularly for 6 years with brain MRI and electrophysiological examination. Transient symmetrical high signals on T2 imaging and restricted diffusion were found in bilateral deep white matter. Electrophysiological measurement revealed a sensorimotor peripheral neuropathy with slightly reduced nerve conduction velocities. A novel thymine to cytosine mutation at nucleotide position 445 in the connexin 32 allele of the GJB1 gene was identified. During the 6-year longitudinal study, patient’s motor and sensory function did not worsen; radiological abnormalities correlated with episodes of CNS dysfunction and resolved after clinical recovery; electrophysiological records showed no obvious change. Little change in the patient’s clinical, radiological and electrophysiological results over the follow-up reflected a slow disease progression.     

南方离子型稀土开发利用中各固体物料放射性的研究

目的 为了解南方离子型稀土矿开采、选矿和冶炼等稀土开发利用过程中各固体物料的放射性水平,推动开展南方离子型稀土辐射环境监管法规标准体系制定的研究工作。方法 从多个广西本土相关稀土企业抽样选取各生产环节中产生的固体物料作为研究对象,进行各种固体物料的放射性水平监测分析。结果 监测发现广西的南方离子型稀土原矿、各类产品天然放射性核素放射性水平较低;南方离子型稀土矿中伴生的铀在选矿环节富集于除杂渣中、伴生的钍和镭在稀土冶炼分离环节富集于酸溶渣中,比活度基本超过1Bq/g;中和渣中天然放射性水平低于1Bq/g,但存在铀在此富集的现象。结论 针对监测掌握的广西离子型稀土开发利用企业固体物料天然放射性水平及管理现状,提出进一步加强该类型企业辐射环境管理的方法及建议。     

原发性高血压患者脉压与窦性心律震荡相关性的研究

目的研究新的心电学指标——心律震荡(HRT)在原发性高血压患者中的变化,并探讨HRT和脉压的关系。方法选择我院2004年7月-2005年12月26例原发性高血压脉压增大患者和25例脉压正常的原发性高血压患者行24h动态心电图(Holter),计算HRT的两个参数震荡初始(TO)和震荡斜率(TS),并与脉压进行对比分析。结果原发性高血压脉压增大患者组与脉压正常患者组比较HRT异常明显,差异有显著性意义(P<0．05)。结论高血压患者脉压增大组HRT异常,提示原发性高血压脉压增大患者自主神经功能状态受损明显。     

Association of time-to-surgery with outcomes in clinical stage I-II pancreatic adenocarcinoma treated with upfront surgery

Background

Time-to-surgery from cancer diagnosis has increased in the United States. We aimed to determine the association between time-to-surgery and oncologic outcomes in patients with resectable pancreatic ductal adenocarcinoma undergoing upfront surgery.