1.Clinical and electrophysiological features of Charcot-Marie-Tooth disease type 1 caused by GJB1 gene mutation: A pedigree analysis
Binbin ZHANG ; Jianjun LI ; Li DI
Journal of Apoplexy and Nervous Diseases 2024;41(12):1129-1133
Objective To investigate the clinical phenotype, electrophysiological features, and family characteristics of a family with X-linked dominant hereditary Charcot-Marie-Tooth disease type 1 (CMTX1) associated with GJB1 gene mutation. Methods Related clinical data were collected from ten patients in the four generations of a family with CMTX1, among whom three patients underwent electrophysiological nerve conduction detection, and the proband underwent high-throughput whole-exome sequencing, while the other patients in the family underwent Sanger sequencing. Results There were a total of ten patients in this family, with four male patients and six female patients, and their clinical manifestations included varying degrees of symmetrical distal limb weakness and atrophy, hand tremor, pes cavus, hammer toes, and reductions in acupuncture and vibration sensations. The female patients in this family tended to have severe clinical phenotypes, and electrophysiological results showed peripheral nerve myelin sheath and axonal damage. Genetic testing showed that the proband had a heterozygous mutation of c.43C > T (p.Arg15Trp) in the GJB1 gene, which was a pathogenic mutation. The proband’s two brothers and niece all carried this mutation at the same site. Conclusion CMTX1 has obvious clinical heterogeneity, and it is of great significance to fully understand the clinical phenotype, electrophysiological features, and genetic characteristics of CMTX1 associated with heterozygous mutations in the GJB1 gene.
Electrophysiology
3.Electrophysiology of Hypothalamic Neuroendocrine Cells.
Pan Dong RYU ; Seong Kyu HAN ; Kyung Yoon KAM ; Wonee CHONG
Journal of Korean Society of Endocrinology 2000;15(6):672-683
No Abstract Available.
Electrophysiology*
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Neuroendocrine Cells*
4.Photopic Electroretinogram in Adult Diabetics.
Hong Kyun KIM ; Jung Yoon KWON ; Sang Ha KIM
Journal of the Korean Ophthalmological Society 1999;40(1):121-127
In cross sectional fashion we recoreded the cone response in 98 adult diabetics and 20 normal controls according to the recommendation by the International Society for Clinical Electrophysiology of Vision. The photopic oscillatory potentials were extracted from the cone response by highpass filtering. The clear media and attached retina were criteria for inclusion in this study. The data were statistically analyzed expecting that this procedure may provide a feature that could have some clinical significance. The analysis of variance demonstrated that the summed amplitude of the oscillatory potentials, and second oscillatory potential amplitude were the most sensitive parameters to the diabetic retina. A timing delay in the first oscillatory potential wavelet, and a reduction in the second oscillatory potential amplitude and the summed amplitude of oscillatory potentials were the commonest abnormalities. Hence, the second oscillatory potential amplitude and the summed amplitude of oscillatory potentials may be the most valuable indicator among the photopic electroretinogram parameters representing a quantitative measure of overall retinal dysfunction.
Adult*
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Electrophysiology
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Humans
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Retina
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Retinaldehyde
5.Multi-channel in vivo recording technique: microdrive array fabrication and electrode implantation in mice.
Xiao-Yu MA ; Yi-Yao ZHANG ; Li-Na WANG ; Long-Nian LIN
Acta Physiologica Sinica 2013;65(6):637-646
Here we describe and illustrate our methods for multi-channel in vivo recording in mice, including the fabrication of the microdrive array and the surgical procedure for implanting electrodes. The multi-channel microdrive is fabricated from printed circuit board base, screws, nuts and clamping screws. Rotation of the screw drives both the nut and the attached electrodes to move forward simultaneously. Each full turn of the screw corresponds to 280 µm in depth penetration. The recording electrodes are self-made tetrodes consisting 4 wires (13 µm in diameter). The major steps of headstage fabrication include: tetrode making, microdrive construction, headstage assembling and tetrode plating. The finished headstage is suitable for multi-channel recording in freely moving rodents with the modest weight and the adjustable number of recording electrodes. Additionally, the recording site is allowed to be manipulated after implantation at any time. In the latter part of this paper, we introduce the procedure of the implant surgery to record in bilateral hippocampus in mice. Using these headstages, we simultaneously recorded population activity in bilateral CA1 in freely behaving mice.
Animals
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Electrodes, Implanted
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Electrophysiology
;
instrumentation
;
Hippocampus
;
Mice
6.The Characteristics of Unipolar and Bipolar Electrograms at the Origin of Ventricular Tachycardia.
Hyoung Seob PARK ; Yoon Nyun KIM ; Chang Wook PARK ; Min Jung KIM ; Yun Kyeong CHO ; Sun Hyo PARK ; Young Soo LEE ; Dae Woo HYUN ; Seong Wook HAN ; Seung Ho HUR ; Kee Sik KIM ; Kwon Bae KIM
Korean Circulation Journal 2004;34(10):963-969
BACKGROUND AND OBJECTIVES: In radiofrequency catheter ablation (RFCA), it is an essential point to understand the characteristics of local electrograms at arrhythmic focus. However controversy exists as whether the unipolar or bipolar electrogram is superior in detecting arrhythmic focus. SUBJECTS AND METHODS: We evaluated the characteristics of unipolar and bipolar electrograms at ventricular tachycardia (VT) origin. Electroanatomical mapping and RFCA were performed in 6 patients with idiopathic VT. 22 sites were enrolled and 6 of them were successful sites. We analyzed the relationship between surface and local electrograms in accordance with success or failure. We also analyzed the morphology of local electrograms. RESULTS: At successful sites of RFCA, point of unipolar onset (22.86+/-10.82 msec vs 5.47+/-26.31 msec, p<0.05) and maximal negative slope (16.57+/-17.46 msec vs -4.00+/-22.77 msec, p<0.05) were recorded earlier than unsuccessful sites. R wave amplitude (0.11+/-0.19 mm vs 0.64+/-0.57 mm, p<0.05) and R/S ratio (0.02+/-0.30 vs 0.18+/-0.26, p<0.05) of unipolar electrograms were smaller at successful sites. R wave duration was shorter at successful sites (6.29+/-8.49 msec vs 11.33+/-6.26 msec) but there was no statistical significance. QRS duration of bipolar electrograms was longer at successful sites (66.14+/-17.93 msec vs 49.07+/-13.11 msec, p<0.05). CONCLUSION: In electranatomical mapping for VT, point of unipolar onset and maximal negative slope could predict local activation time more precisely Unipolar electrograms showed shorter R wave duration and smaller R/S ratio at successful sites of RFCA. We can estimate the focus of VT by using these chracteristics of unipolar and bipolar electrogram.
Catheter Ablation
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Electrophysiology
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Humans
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Tachycardia, Ventricular*
7.CAI Program of Potasium Courseware.
Journal of Korean Society of Medical Informatics 1996;2(1):75-85
Computer-Assisted Instruction(CAI) improved the possibility of individualized learning by enhancing the learning efficacy related to the apptitude, competency, speed and perceptual style of each learner. The reason that I introduced the computer in teaching and learning process is based on the assumption that individual differences can be minimized by applying CAI. This has special meaning because in the current teaching and learning system we can not consider the individual differences of learners. Considering the importance of developing individualized learning program, the course of electrophysiology and pathology of K that requires typical memorization and repetition is made as a purpose to increase the efficacy of learning and thus improve the quality of nursing curriculum.
Curriculum
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Electrophysiology
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Individuality
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Learning
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Nursing
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Pathology
8.Cerebellar Control of Saccades.
Jae Hwan CHOI ; Kwang Dong CHOI
Korean Journal of Clinical Neurophysiology 2013;15(2):37-41
Saccades are rapid eye movements that shift the line of sight between successive points of fixation. The cerebellum calibrates saccadic amplitude (dorsal vermis and fastigial nucleus) and the saccadic pulse-step match (flocculus) for optimal visuo-ocular motor behavior. Based on electrophysiology and the pharmacological inactivation studies, early activity in one fastigial nucleus could be important for accelerating the eyes at the beginning of a saccade, and the later activity in the other fastigial nucleus could be critical for stopping the eye on target, which is controlled by inhibitory projection from the dorsal vermis. The cerebellum could monitor a corollary discharge of the saccadic command and terminate the eye movement when it is calculated to be on target. The fastigial nucleus and dorsal vermis also participate in the adaptive control of saccadic accuracy.
Cerebellum
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Electrophysiology
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Eye Movements
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Saccades*
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Sleep, REM
9.The resistance of acupoint and its measurement.
Jianzi WEI ; Xueyong SHEN ; Ting WANG
Journal of Biomedical Engineering 2006;23(3):509-511
We have analysed the significance of acupoint resistance and some probable problems in its measurement according to biophysics theories and we believe that the skin resistance plays an important role in acupoint resistance. The Volt-ampere curve should be used to describe acupoint resistance, and only when the measurements are under the same condition should the results be compared, because acupoint resistance is nonlinear. The acupoint resistance could be detected only in vivo. In this paper is presented a simple and easy method with which we can connect acupoint into electric circle. Also reported here is how to control the circumstance condition while measurements are taken.
Acupuncture Points
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Electrophysiology
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Galvanic Skin Response
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physiology
;
Humans
10.Effect of acupuncture on the activity of gastrointestinal electricity.
Song WU ; Jia LI ; Feng-Xia LIANG ; Hong-Yun JIN ; Hua WANG
Chinese Acupuncture & Moxibustion 2011;31(5):477-480
Based on the summarization of literatures on regulation of gastrointestinal electricity with acupuncture, the regulation effect of acupuncture, its influencing factors and its mechanism were analyzed in this article. It is found that the regulation effect can be influenced by many factors such as different acupuncture techniques, frequency, point selection, manipulations and the physical condition of the object. The effect of acupuncture appears great variety, which manifests as reinforced, inhibited or a kind of two-way regulation. And it is also held that the effect of acupuncture relies on the integrity of the nerve system. Nuclei, neurotransmitters, body fluid and gastrointestinal hormone also take part in the acupuncture effect. Therefore, studies on mechanism of acupuncture effect on gastrointestinal electricity should be strengthened in the future.
Acupuncture Therapy
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Electrophysiology
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Gastrointestinal Tract
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chemistry
;
physiology
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Humans