• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.25-30
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• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

• The Korean Journal of Food And Nutrition
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• v.21 no.4
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• pp.430-435
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• 2008

The main cause of diabetic neuropathy, one of the most debilitating complications, is the chronic hyperglycemia, the increase sorbitol or the decrease of nerve growth factor(NGF). NGF, a protein, plays a major role in the development and maintenance of peripheral nervous system. Systemic administration of NGF prevents manifestations of neuropathy in rodent models of diabetic neuropathy. In the previous investigation, we report the hypoglycemia effect of Dioscorea rhizoma extract(DRE) in diabetic mice. The present study shows protective effect of DRE on diabetic neuropathy by induction of NGF protein. We investigated the NGF level in salivary gland and sciatic nerve of normal mouse and the effect of DRE on sciatic nerve conductivity and thermal hyperalgesia test in Type 2 db/db mouse. DRE increased endogenous NGF level in salivary gland and sciatic nerve of mouse. And sensory nerve conductivity velocity(SNCV), motor nerve conductivity velocity(MNCV) and thermal hyperalgesia increased in DRE treatment mice compared with control group. On the basis of our results, we conclude that DRE increase induction of endogenous NGF level and have protective effect on diabetic neuropathy by induction of NGF. Therefore, we propose that long-term use of DRE might help prevention of diabetes-associated complication; diabetic neuropathy.

• Korean Journal of Acupuncture
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• v.29 no.2
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• pp.239-249
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• 2012

Objectives : This study was investigated to observe Foot Soeum Meridian Muscle in human. Methods : In order to expose components related to Foot Soeum Meridian Muscle, cadaver was dissected in the order of their depth; being respectively divided into superficial, middle, and deep layer. Results : Anatomical components related to Foot Soeum Meridian Muscle in human are composed of muscles such as flexor digitorum brevis tendon, abductor hallucis muscle, psoas major m., erector spinae m., and flexor retinaculum, fascia such as plantar aoneurosis, ligament such as sacrotuberal ligament, sacrospinous lig., nuchal lig., nerves such as plantar cut. br. of med. plantar nerve, med. crural cut. br. of saphenous n., br. of tibial n., post. femoral cut. n., spinal n.(dorsal rami of C4-6, T7-12, L1-3, and S1-3), and autonomic nervous system(sacral plexus, pelvic splanchnic n., etc.), and etc. Conclusions : This study shows comparative differences from established studies on anatomical components related to Foot Soeum Meridian Muscle, and the methodical aspects of analytic process. In addition, Foot Soeum Meridian Muscle in human is a comprehensive concept including the relevant nerves, but it remains questionable.

• Journal of Physiology & Pathology in Korean Medicine
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• v.28 no.4
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• pp.460-463
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• 2014

Chemotherapy-induced peripheral neuropathy (CIPN) which is one of the common chemotherapy related toxicity poses a significant clinical challenge. Here we conducted a prospective pilot study to evaluate the efficacy of acupuncture on CIPN. Patients with CIPN were administered acupuncture procedure with continuation of previous conventional medication. Acupuncture procedures were conducted three times per week for 3 weeks. We assessed patients with Common Terminology Criteria for Adverse Events (CTCAE) v4.0, Visual Analog Scale (VAS), Functional Assessment of Cancer Therapy/Gynecologic Oncology Group Neurotoxicity (FACT/GOG-Ntx) at the time of baseline and every week after the acupuncture procedures. Total 5 patients were included and treated with acupuncture. CTCAE grades were the same of 2 in all patients. VAS mean value changed from 5.2 to 3.2, and FACT/GOG-Ntx total score that suggests the higher relates to better quality of life changed from 93.3 to 110 as mean value at the end of the 3rd week, though this index difference did not show any statistically significant difference. This pilot study suggests that acupuncture procedure may have a role for CIPN treatment. Launching a more larger and properly controlled study will be required to ascertain the efficacy of acupuncture.

• Journal of Physiology & Pathology in Korean Medicine
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• v.27 no.5
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• pp.672-676
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• 2013

The purpose of this study is to report that a patient suffered from Common Peroneal Neuropathy (CPN) caused by ankle sprain was improved by acupuncture plus electro-acupuncture. In this study, the patient was diagnosed with magnetic resonance image(MRI) and electomyography(EMG). We treated at acupoints ST36, ST41, SP9, GB34, GB39 and LR3 by acupuncture plus electro-acupuncture twice a day for 16 days; a total of 30 times. We used evaluation scale including muscle manual testing(MMT) and visual analogue scale (VAS). MMT changed from Grade 0 to Grade 5 and VAS changed from 10 to 2 after treatment for 16days with hospitalization. Though it is a case report, these results suggest that acupuncture and electrical acupuncture might have valid effect on CPN in controlled environment.

• Journal of Preventive Medicine and Public Health
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• v.39 no.5
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• pp.404-410
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• 2006

Objectives: This study examined the natural history of symptomatic patients who did or did not display abnormal results on nerve conduction studies (NCS). Methods: Forty hundred fifty adults were selected among a total of 578 residents who participated in the health examination in a rural Korean district. A symptom questionnaire and NCS were used to diagnose ulnar neuropathy at the elbow (UNE). There were 6.4% of the subjects with UNE, 5.1 % of the subjects showed symptoms without a NCS, and 84.2% of the subjects who were asymptomatic. One year later, 20 symptomatic limbs with an abnormality on the ulnar NCS and 22 symptomatic limbs without any abnormality in the ulnar NCS were enrolled in a follow-up study. The natural history of UNE was evaluated by examining the changes in the clinical and electrodiagnostic examinations. Results: The 1-year follow-up of the enrolled limbs found that for the symptomatic limbs with an abnormality on the NCS, the degree of severe of the clinical grade changed from 20% to 10%. In contrast, for the symptomatic limbs that were without any abnormality in the NCS, the change of the severe degree of the clinical grade was from 0% to 18.2%. Also, for the electrodiagnostic change, only symptomatic limbs without NCS abnormalities showed significant changes in motor latency, amplitude and conduction velocity at the 1-year follow-up. Conclusions: The 1-year follow-up study revealed symptomatic limbs that were without any abnormality on the ulnar NCS were more likely to progress than the symptomatic limbs with an abnormality on the ulnar NCS.

• Journal of Korean Foot and Ankle Society
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• v.14 no.2
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• pp.140-145
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• 2010

Purpose: The diabetic charcot neuroarthropathy of ankle is an infrequent site (around 5%), but is definitely the location that, because of the instability and progressive deformity it involves, cause ulceration in a high percentage of patients, and this can then become a reason for amputation. However, the treatment of this disastrous disease is still challenging. We analyzed the clinical and radiological results of ankle arthrodesis by our fixation method in Charcot neuroarthropathy. Materials and Methods: Seven cases that were diagnosed as charcot neuroarthropathy of ankle arthrodesis were followed for more than 16 months postoperatively. Mean age was 57 years, and the mean follow-up period was 27 months. Anterior approach was used in arthrodesis, and internal fixation by 3 or more cannulated screws and hybrid type external fixation were used. Auto iliac bone for grafting was combined in all cases. External fixator was kept for 3 months without weight-bearing. Then, boots brace was applied for more 3 months allowing partial weight-bearing. Four cases had minor complications such as pin site infection. Preoperative and postoperative AOFAS score, time to fusion and postoperative complications were checked. Results: Postoperative fusion was completed in all cases, and the mean time to fusion was 3.4 months. No postoperative complication was checked. At the last follow-up, the mean AOFAS score had increased from 54 points to 72 points. Patient's satisfaction was over 80%. Conclusion: Satisfactory results were obtained after ankle arthrodesis using internal and hybrid type external fixation combined with auto iliac bone graft in charcot neuroarthropathy with minor complications.

• The Journal of Internal Korean Medicine
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• v.41 no.2
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• pp.256-266
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• 2020

Objectives: This report presents the case of a 21-year-old woman with lower extremity paresthesia in both feet due to polyneuropathy. Methods: The patient was treated using a Korean traditional complex treatment approach that included herbal medication, acupuncture, electroacupuncture, and moxibustion. We evaluated the improvements in the pain symptoms in both feet using the numeric rating scale (NRS); we also assessed for gait disturbance and used Digital Infrared Thermographic Imaging (D.I.T.I.) to evaluate minute changes in body temperature in diseased areas. Results: After administering the Korean traditional complex treatment, we observed a decrease in pain levels in both feet based on the NRS scores. We also observed improvements in gait disturbance and D.I.T.I. Conclusions: This case showed that the use of a Korean traditional complex treatment approach, consisting of herbal medication, acupuncture, electroacupuncture, moxibustion, had a positive effect on decreasing polyneuropathy symptoms.

• Korean Journal of Acupuncture
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• v.30 no.4
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• pp.289-297
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• 2013

Objectives : Diabetic peripheral neuropathy(DPN), generally considered to be the most symptomatically distressing complication of diabetes, affects more than 50% of people with diabetes. However, no consistently effective treatment for DPN is available and patients are forced to struggle with medications that provide only partial relief. In this pilot study, we evaluated the clinical effects of Saam acupuncture for the treatment of painful DPN. Methods : A total of 10 patients with painful DPN were included in the study; 6 subjects with Saam acupuncture treatment and 4 subjects without it. Subjects were defined as having painful DPN if they had at least 2 points using total symptom score(TSS). Treatments were delivered three times a week for 4 weeks. Vitamin $B_{12}$ was orally administrated in the all subjects. At initial(0 week) and follow-up after 4 weeks and 8 weeks, all subjects underwent TSS, Michigan Neuropathy Screening Instrument(MNSI), and nerve conduction test. Results : After initial(0 week) and follow-up(8 weeks), TSS and MNSI were not significantly different between the two groups(p=0.400 and p=0.830, respectively). However, in both two groups, according to time, there was a significant difference in TSS as well as MNSI(p=0.001 and p=0.004, respectively). Conclusions : Saam acupuncture may be considered as the effective treatment for the patients of DPN although the changes of the symptoms were of limited significance in this study. Further investigations are required to elucidate the role of Saam acupuncture for the pain control of DPN.

• Journal of Korean Neurosurgical Society
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• v.29 no.12
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• pp.1634-1641
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• 2000

Objective : The cerebrospinal fluid(CSF) pulsates within the craniospinal axis in response to rhythmic cerebral blood volume variation during the cardiac cycle. The aim of this study is to characterize the normal and abnormal CSF flow and its waveforms in the cervical spinal subarachnoid space. Methods : The magnetic resonance(MR) images were obtained with 1.5 T(GE Signa, GE Medical Systems, Milwaukee, USA) unit using the 2 dimensional cine PC(phase contrast) sequence with cardiac gating and gradient recalled echo imaging. This pulse sequence yielded 16 quantitative flow-encoded images per cardiac cycle. Sagittal and axial images of the cervical spinal CSF space were obtained, and target sites were analyzed for characteristic CSF flow (TR=50ms, TE=12.5-15ms). The region of interest(ROI) was 1mm 3 in volume. Twenty six persons were included in this study : 10 healthy volunteers and 16 patients with cervical myelopathy. The post-operative cine MR study were also done in five patients. Results : The normal CSF pulsation dynamics in the cervical spine showed discrete systolic and diastolic components. The CSF flow revealed a sine wave pattern, in which the systolic phase was shorter than the diastolic phase(ratio=2 : 3). The patient group revealed decreased amplitudes of the CSF flow and irregularly distored flow waves. The systolic phase was elongated in the ROI above the stenotic level, whereas the diastolic phase was lengthened below the level. In the postoperative images, the abnormal pattern and amplitude were found to be corrected. Conclusion : From these results, the authors believe that the CSF flow study provides valuable informations regarding the extent of cervical stenosis and may be useful for the surgical planning and post-operative evaluation.