Ictal (99m)Tc ECD SPECT in paroxysmal kinesigenic choreoathetosis

Paroxysmal kinesigenic choreoathetosis is a rare neurologic disorder characterized by sudden attacks of brief involuntary dyskinetic movement that are precipitated by voluntary movement. A 14-year-old male who presented with frequent brief attacks of hemidystonia triggered by sudden movement is reported. Investigations, including video electroencephalogram and magnetic resonance imaging of brain, were normal. There was excellent and sustained response to carbamazepine. Ictal single-photon emission computed tomography using (99m)Tc ethyl cysteinate dimer revealed increased perfusion of the contralateral basal ganglia, which is associated with onset of choreoathetosis attacks. Our findings provide evidence that hyperactivity of the basal ganglia is associated with the dyskinetic attacks in paroxysmal kinesigenic choreoathetosis.     

Extensive primary malignant melanoma of the oesophagus

Primary malignant melanoma of the oesophagus (PMME) is a rare tumour. It has characteristic pathological and immunohistochemical features and diagnosis and management is difficult. This paper reports a patient with PMME, with a review of literature. The literature search was made with the Index Medicus/MEDLINE database using ‘melanoma’ and ‘oesophagus’ as key words, and cross‐referencing of other articles on the subject. Three‐phase oesophagectomy was performed and the patient died 2 months afterwards with respiratory failure and bone metastasis. Primary malignant melanoma of the oesophagus is a highly lethal tumour. Radical surgery is the treatment of choice.      

Metabolism of the dorsal cochlear nucleus in rat brain slices

In vitro brain slices of the cochlear nucleus have been used for electrophysiological and pharmacological studies. More information is needed about the extent to which the slice resembles in vivo tissue, since this affects the interpretation of results obtained from slices. In this study, some chemical parameters of the dorsal cochlear nucleus (DCN) in rat brain slices were measured and compared to the in vivo state. The activities of malate dehydrogenase and lactate dehydrogenase were reduced in some DCN layers of incubated slices compared to in vivo brain tissue. The activities of choline acetyltransferase and acetylcholinesterase were increased or unchanged in DCN layers of slices. Adenosine triphosphate (ATP) concentrations for in vivo rat DCN were similar to those of cerebellar cortex. Compared with in vivo values, ATP concentrations were decreased in the DCN of brain slices, especially in the deep layer. Vibratome-cut slices had lower ATP levels than chopper-cut slices. Compared with the in vivo data, there were large losses of aspartate, glutamate, glutamine, gamma-aminobutyrate and taurine from incubated slices. These amino acid changes within the slices correlated with the patterns of release from the slices.     

上皮细胞钠通道α亚基在大鼠和人睾丸、精子中的表达及其与精子活力的关系

目的:研究上皮细胞钠离子通道α亚基(ENaC-α)在大鼠和人的睾丸、精子上的表达及其与人精子活力之间的关系。方法:用western-blot检测ENaC-α在大鼠和人睾丸、精子上的表达,同时免疫荧光检测其在大鼠睾丸的分布特点。用计算机辅助精液分析检测ENaC-α的特异阻断剂EI-PA[5-(N-ethyl-N-isopropyl)-amiloride hydrochloride]对精子活力的影响。结果:ENaC-α亚基表达于大鼠睾丸精母细胞、精子细胞,以及大鼠成熟精子的鞭毛中段;它也存在于人睾丸和成熟精子的鞭毛中段。体外精子活力实验表明,获能过程中ENaC的阻滞,可以促进人精子活力的增加,差异有显著性意义(P<0.01)。结论:ENaC-α构成的离子通道在生精细胞中表达,最终局限分布于成熟精子的鞭毛中段的质膜中。而特异阻断剂EIPA可以抑制上皮细胞钠离子通道,从而提高精子活力。     

几种嗓音疾病的声学分析和听感知分级的评价

目的评价嗓音声学分析和主观听感知评估对几种嗓音疾病测试的客观性及科学性。方法①研究对象：嗓音障碍患者72例,正常对照组30例。②主观听感知评估：采用日本言语语音协会的声音嘶哑评估标准GRBAS系统中的总嘶哑度G、粗糙声R、气息声B主观评估受试者的嗓音质量。③嗓音的客观检测：以/e/音作声样,进行嗓音声学和电声门图测试。结果随声嘶程度加重,反映声带振动的稳定性的基频微扰（jitter）、振幅微扰（shimmer）、电声门图-基频微扰（E-jitter）、电声门图-振幅微扰（E-shimmer）增大;反映声门闭合程度的标准化噪声能量（NNE）、电声门图-标准化噪声能量（E-NNE）,接触商微扰（CQP）增大;谐噪比（HNR）减小。嗓音客观参数在主观听感知评估分析患者间的差异有显著统计学意义（P〈0.05）,能区分出不同的嗓音障碍组,但在不同的疾病组间缺乏特异性。结论本实验中所选客观参数可客观评价嗓音疾病,为临床治疗提供依据。     

异丙酚、芬太尼联合麻黄素用于无痛人流麻醉的临床观察

目的 观察异丙酚和芬太尼联用麻黄素改善无痛人流术不良反应的效果.方法 60例自愿接受无痛人流者,随机分为异丙酚-芬太尼组(对照组)和异丙酚-芬太尼-麻黄素组(观察组),记录收缩压(SBP)、舒张压(DBP)、血氧饱和度(SpO2)、呼气末二氧化碳分压(PETCO2)等指标.结果 对照组给药后60秒SBP、DBP有所下降,且药物注射后4个时点SBP均有下降;观察组则无类似显著改变.对照组给药后60、120、180秒时SpO2均有一定程度下降,且有2例出现短暂呼吸暂停;观察组患者SpO2仅轻度下降.对照组患者给药后4个时点PETCO2均有明显升高;观察组患者PETCO2稍有升高.结论 观察组患者血压、SpO2等更平稳,麻黄素可以改善异丙酚和芬太尼相关的心血管系统抑制和通气功能障碍.     

Combined flap of postauricular musculo-periosteal and ear canal skin flap with bone paté for mastoid obliteration and canal wall down mastoidectomy]

OBJECTIVE: To investigate the long-term outcome and clinical value of modified radical mastoidectomy with mastoid obliteration using pedicled combined flap of postauricular musculo-periosteal and ear canal skin flap in conjunction with bone paté. METHODS: During 2 years from April 2003 to March 2005, 71 otitis media patients (71 ears) with cholesteatoma were subjected to this kind of operation. RESULTS: The follow-up period was more than 2 years. The period of complete reepithelialization ranged from 3 weeks to 1.5 months, with the mean period of 29 days. All of the patients, treated by the described method of operation had a dry, disease-free mastoid of ear. CONCLUSIONS: Mastoid obliteration with pedicled combined flap of postauricular musculo-periosteal and ear canal skin flap in conjunction with bone paté, had the advantages as follows: (1) Healing of the mastoid cavity in a short time. (2) Better reepithelialization of the obliterated mastoid cavity. (3) No need of skin grafting in the mastoid cavity. (4) High rate of the dry ear in postoperation. (5) nearly no need of the mastoid cavity cleaning postoperatively.     

两个耳聋家系TMPRSS3基因突变分析及产前诊断

目的对两个耳聋家系进行遗传性耳聋基因突变检测,为家系遗传咨询与产前诊断提供参考。方法2018年3—12月,郑州大学第一附属医院遗传与产前诊断中心应用二代测序技术对两个家系患儿进行耳聋基因检测(包含168个已知致病基因,包括核基因、相关线粒体区域及miRNA),并对可疑基因在患儿及家系成员中进行Sanger双向测序验证,确定致病突变后,对两个家系的高危胎儿进行产前诊断。结果家系1患儿检测到TMPRSS3基因c.432delA和c.617-2_617-1insTC复合杂合突变,家系2患儿检测到TMPRSS3基因c.271C>T(p.R91X)和c.147dupT复合杂合突变,两家系患儿父母均为携带者。产前诊断结果显示两家系胎儿均只携带1个杂合突变。随访至2019年8月,两家系二胎分别为15月龄和13月龄,听力未见异常。结论TMPRSS3基因突变可能是两个耳聋家系的致病基因,用二代测序技术可以高效、经济准确地对遗传性耳聋患者进行基因诊断,为家系遗传咨询和产前诊断提供参考。