• Journal of Life Science
• /
• v.30 no.8
• /
• pp.672-679
• /
• 2020

Distal myopathy is a clinically and genetically heterogeneous group of degenerative diseases of the distal muscle. Glycogen storage disease type IXD (GSD9D) is a metabolic distal myopathy characterized by muscle deficiency of phosphorylase kinase, a key regulatory enzyme in glycogen metabolism. Affected individuals may develop muscle weakness, degeneration, and cramps, as well as abnormal muscle pain and stiffness after exercise. It has been reported that mutations in the PHKA1 gene which encodes the alpha subunit of muscle phosphorylase kinase cause GSD9D. In this study, we examined a Korean GSD9D family with a c.3314T>C (p.I1105T) mutation in the PHKA1 gene. This mutation has not been previously reported in any mutation database nor was it found in 500 healthy controls. The mutation region is well conserved in various other species, and in silico analysis predicts that it is likely to be pathogenic. To date, only seven mutations in the PHKA1 gene have been documented, and this is the first report of Korean GSD9D patients. This study also describes and compares the clinical symptoms and pathological conditions of previously reported cases and these Korean patients. We believe that our findings will be useful for the molecular diagnosis of GSD9D.

• The Korean Journal of Nuclear Medicine
• /
• v.32 no.1
• /
• pp.20-31
• /
• 1998

A robust algorithm to disclose and display the difference of ictal and interictal perfusion may facilitate the detection of ictal hyperfusion foci. Diagnostic performance of localizing epileptogenic zones with subtracted SPECT images was compared with the visual diagnosis using ictal and interictal SPECT, MR, or PET. Ietal and interictal Tc-99m-HMPAO cerebral perfusion SPECT images of 48 patients(pts) were processed to get parametric subtracted images. Epileptogenic foci of all pts were diagnosed by seizure free state after resection of epileptogenic zones. In subtraction SPECT, we used normalized difference ratio of pixel counts(ictal-interictal)/interictal ${\times}100%$) after correcting coordinates of ictal and interictal SPECT in semi-automatized 3-dimensional fashion. We found epileptogenic zones in subtraction SPECT and compared the performance with visual diagnosis of ictal and interictal SPECT, MR and PET using post-surgical diagnosis as gold standard. The concordance of subtraction SPECT and ictal-interictal SPECT was moderately good(kappa=0.49). The sensitivity of ictal-interictal SPECT was 73% and that of subtraction SPECT 58%. Positive predictive value of ictal-interictal SPECT was 76% and that of subtraction SPECT was 64%. There was no statistical difference between sensitivity or positive predictive values of subtraction SPECT and ictal-interictal SPECT, MR or PET. Such was also the case when we divided patients into temporal lobe epilepsy and neocortical epilepsy. We conclude that subtraction SPECT we produced had equivalent diagnostic performance compared with ictal-interictal SPECT in localizing epileptogenic zones. Additional value of these subtraction SPECT in clinical interpretation of ictal and interictal SPECT should be further evaluated.

• Pediatric Infection and Vaccine
• /
• v.10 no.2
• /
• pp.178-185
• /
• 2003

Purpose : Group A streptococci(GAS) was isolated from the patients with acute pharyngitis. Epidemiological studies using T typing and emm genotyping was performed for GAS and compared with the results of the carriers. Methods : Throat cultures were taken from 246 children(123 boys, 123 girls) from November, 2001 to May, 2002 who visited a pediatrician's office located in Jinju, Gyeongnam province. T types were identified with slide agglutination and emm genotypes were identified with DNA sequencing after amplification of emm genes. Results : One hundred thirty(52.8%) out of 246 children yielded beta-hemolytic streptococci, of which 96.1% were group A. Children from 4 to 7 years old comprised 70.4% of the GAS positive group. T12 were the most common(35.2%) and T non-typeable strains were the next(30.4%). emm12 was most frequent(28.5%), and emm75(18.7%), emm22(13.0%), emm2(12.2%), and emm8(8.1%) were relatively common. Conclusion : Since GAS is so highly prevalent in acute pharyngitis, indeed being half of the population, good clinical practice dictates the systematic employment of throat culture for acute pharyngitis before prescribing antibiotics in a pediatric setting. The distribution of the T antigens and emm genes showed similar pattern between the acute pharyngitis and the carriers.

• Asian Pacific Journal of Cancer Prevention
• /
• v.14 no.10
• /
• pp.5995-6000
• /
• 2013

Background: Nausea and vomiting after transcatheter arterial chemoembolization (TACE) for hepatocellular carcinoma (HCC) are common in clinical practice, but few studies have reported the incidence and risk factors of such events. Objective: The purpose of this study was to analyze the incidence and risk factors of nausea and vomiting after TACE for HCC. Methods: This study was a single-center retrospective analysis of a prospectively maintained database. Between May 2010 and October 2012, 150 patients with HCC were analyzed for incidence and preprocedural risk factors. Results: The incidence of postembolization nausea and vomiting was 38.8% and 20.9%, respectively, in patients with HCC. Patients who developed nausea had lower levels (<100 IU/L) of serum alkaline phosphatase (ALP) compared to those without nausea ($123.04{\pm}69.38$ vs. $167.41{\pm}138.95$, respectively, p=0.044). Female gender correlated to a higher incidence of nausea as well (p=0.024). Patients who developed vomiting, compared to those who did not, also had lower levels (<100 IU/L) of serum ALP ($112.52{\pm}62.63$ vs. $160.10{\pm}127.80$, respectively, p=0.010), and serum alanine transferase (ALT) ($35.61{\pm}22.87$ vs. $4.97{\pm}29.62$, respectively, p=0.045). There were no statistical significances in the incidences of nausea and vomiting between male patients over 50 years old and female patients who have entered menopause (p=0.051 and p=0.409, respectively). Multivariate analysis by logistic regression analysis demonstrated that female gender and ALP>100 IU/L were the most independent predictive factors of postembolization nausea (odds ratio (OR): 3.271, 95% CI: 1.176-9.103, p=0.023 and OR: 0.447, 95% CI: 0.216-0.927, p=0.030, respectively). ALP>100 IU/L was also the most independent predictive risk factor of postembolization vomiting (OR: 0.389, 95% CI: 0.159-0.952, p=0.039). Conclusions: Postembolizaiton nausea and vomiting are common in patients with HCC. Recognition of the risk factors presented above before TACE is important for early detection and proper management of postembolization nausea and vomiting. Nevertheless, future studies are required.

• Journal of Korean Neurosurgical Society
• /
• v.53 no.5
• /
• pp.288-292
• /
• 2013

Objective : Vertebral distraction is routinely performed during anterior cervical discectomy and fusion (ACDF). Overdistraction can injure the facet joints and may cause postoperative neck pain consequently. The purpose of this study was to investigate the clinical relevance of distraction force during ACDF. Methods : This study included 24 consecutive patients with single level cervical disc disease undergoing single level ACDF. We measure the maximum torque just before the the arm of the Caspar retractor was suspended by the rachet mechanism by turning the lever on the movable arm using a torque meter. In order to turn the lever using the torque driver, we made a linear groove on the top of the lever. We compared the neck disability index (NDI) and visual analogue scale (VAS) scores between the high torque group (distraction force>6 $kgf{\cdot}cm$) and the low torque group (distraction force${\leq}6kgf{\cdot}cm$) at routine postoperative intervals of 1, 3, 5 days and 1, 3, 6 months. Results : The VAS scores for posterior neck pain had a linear correlation with torque at postoperative 1st and 3rd days ($y=0.99{\times}-1.1$, $r^2=0.82$; $y=0.77{\times}-0.63$, $r^2=0.73$, respectively). VAS scores for posterior neck pain were lower in the low torque group than in the high torque group on both 1 and 3 days postoperatively ($3.1{\pm}1.3$, $2.6{\pm}1.0$ compared with $6.0{\pm}0.6$, $4.9{\pm}0.8$, p<0.01). However, the difference in NDI scores was not statistically significant in all postoperative periods. Conclusion : Vertebral distraction may cause posterior neck pain in the immediate postoperative days. We recommend not to distract the intervertebral disc space excessively with a force of more than 6.0 $kgf{\cdot}cm$.

• Investigative Magnetic Resonance Imaging
• /
• v.4 no.2
• /
• pp.94-99
• /
• 2000

Purpose : With the use of localized, water-suppressed in vivo $^1H$ magnetic resonance spectroscopy (MRS), we evaluated the proton metabolic alterations in patients with chronic alcoholism and healthy normal controls. Material and Methods : Patients with chronic alcoholism (N = 10) and normal control subjects (N = 10) underwent MRS examinations using a stimulated echo acquisition mode (STEAM) pulse sequence with $2{\times}2{\times}2{\;}\textrm{cm}^3$ volume of interest (VOI) in the left cerebellum and basal ganglia. Proton metabolite ratios relative to creative (Cr) were obtained using a Marquart algorithm. Results : The specific feature in patients with chronic alcoholism was a significant decrease of N-acetylaspartate (NAA)/Cr ratio in the left cerebellum, compared with normal controls. No clear correlation of other metabolite ratios such as choline (Cho)/Cr and inositols (Ins)/Cr was established. Conclusion : Our preliminary study suggests that the reduction of NAA/Cr ratio may indicate neuronal loss in patients with chronic alcoholism. Thus, in vivo 1H MRS may be a useful modality in the clinical evaluation of patients with chronic alcoholism based on the proton metabolite ratios.

• The Korean Journal of Nuclear Medicine
• /
• v.35 no.6
• /
• pp.352-363
• /
• 2001

Purpose: To investigate ictal hyperperfusion patterns during semiologic progression of seizures, we performed SPECT subfraction in 50 patients with temporal lobe epilepsy (TLE). Materials and Methods: The patients were categorized Into five groups according to semiologic progression during ictal SPECT (group-1 having only aura; group-2 haying motionless staling with or without aura; group-3 having motionless staring and then automatism with or without aura; group-4 having motionless staring and then dystonic posturing with or without aura and automatism; group-5 having motionless staring, automatism, then head version and generalized seizures with or without aura and dystonic posturing). Results: In group-1, three patients showed ipsilateral temporal hyperperfusion and two had bilateral temporal hyperperfusion with ipsilateral predominance. In group-2, three (42.9%) patients showed bilateral temporal hyperperfusion with unilateral predominance and four (57.1%) revealed insular hyperperfusion of epileptic side. In group-3, 15 patients (88.2%) showed bilateral temporal hyperperfusion with unilateral predominance and 12 (70.6%) insular hyperperfusion. In group-4, 11 patients (84.6%) showed basal ganglia hyperperfusion on the opposite hemisphere to the side of the dystonic posturing. en group-5, there were multiple hyperperfusion areas in the frontal, temporal and basal ganglia regions. However, the injection times of radiotracer in five groups were relatively short and similar. Conclusions: The semiologic progression in TLE seizures were related to the propagation of hyperperfusion from ipsilateral temporal lobe to contralateral temporal lobe, insula, basal ganglia, and frontal lobe. Not only the radiotracer injection time but also semiologic progression after the Injection was significant in determining hyperperfusion pattern of ictal SPECT.

• The Korean Journal of Nuclear Medicine
• /
• v.30 no.1
• /
• pp.19-34
• /
• 1996

[ $[^{123}I]{\beta}$ ]-CIT [$2{\beta}$-carbomethoxy-$3{\beta}$-(4-iodophenyl)tropane]는 도파민 운반체 (dopamine transporter)에 특이결합하며 $[^{123}I]{\beta}$-CIT의 도파민 운반체 결합정도는 파킨슨병에서 도파민 뉴우런의 변성정도를 반영하는 것으로 제안되어 왔다. 이 연구의 주요 목적은 파킨슨병 환자에서 $[^{123}I]{\beta}$-CIT SPECT를 이용하여 측정된 $[^{123}I]{\beta}$-CIT의 선조체 결합지표들이 질병의 임상적 진행정도를 반영하는지를 검토하고, 간편화된 조직방사능비가 $[^{123}I]{\beta}$-CIT의 결합정도를 나타내는 정량적 지표로 이용될 수 있는지를 검증하는 것이었다. 파킨슨병 환자 30명($59{\pm}9$세, 평균${\pm}$표준편차: Hoehn-Yahr stage 1-3)과 정상인 6명 ($58{\pm}5$세)을 대상으로 $[^{123}I]{\beta}$-CIT SPECT 영상을 얻었다. $[^{123}I]{\beta}$-CIT 선조체 결합의 정량적 지표로서 (선조체 방사능-소뇌방사능)/소뇌방사능 비(specific binding ratio, SBR)와 추적자역학모델을 이용하여 측정한 선조체 결합능(binding potential)($k_3/k_4$)을 구하였다. 파킨슨병 환자에서 $[^{123}I]{\beta}$-CIT의 선조체 결합역학은 정상인에 비하여 현저하게 느렸으며 그 결합지표들은 정상인에 비하여 뚜렷하게 낮았다. 한편, 편측파킨슨병 환자에서 $[^{123}I]{\beta}$-CIT 결합은 증상 반대쪽 선조체 뿐만 아니라 같은 쪽 선조체에서도 정상인에 비해 유의하게 감소되어 있었다. 파킨슨병 환자에서 $[^{123}I]{\beta}$-CIT 투여 후 24시간의 선조체 SBR 및 최대 SBR, 선조체 결합능은 모두, 유병기간, Hoehn-Yahr stage, UPDRS(Unified Parkinson's Disease Rating Scale) 총점, UPDRS 운동점수, UPDRS 일상활동점수와 유의한 상관관계를 나타내었다. 24시간 선조체 SBR과 최대 SBR은 선조체 결합능과 우수한 상관관계를 보였다. 이상의 결과로부터 $[^{123}I]{\beta}$-CIT의 선조체 결합은 파킨슨병의 진행정도를 나타내는 지표로 이용될 수 있다. 또 $[^{123}I]{\beta}$-CIT 투여 후 24시간 영상으로부터 얻은 간편화된 조직방사능 비는 $[^{123}I]{\beta}$-CIT의 결합정도를 정량적으로 반영한다. $[^{123}I]{\beta}$-CIT SPECT는 파킨슨병의 조기진단 및 진행 추적에 임상적으로 유용할 것으로 판단된다.

• Journal of Ginseng Research
• /
• v.34 no.4
• /
• pp.314-320
• /
• 2010

The previous reports have showed that ginseng saponins, which are the active ingredients of Panax ginseng, cause the relaxation of artery that are contracted due to a various of hormones or potassium ($K^+$). Recently, we also showed that ginsenosides differentially regulate channel activity. The purpose of this study was to examine whether ginseng saponins affect contraction induced by $K^+$, serotonin (5-HT), or acetylcholine (Ach) in porcine coronary vessel. Treatment with concentrations of ginseng saponins caused a relaxation of 25 mM KCl-induced porcine coronary artery contraction. Also, ginseng saponin induced a significant dose-dependent relaxation of $3\;{\mu}M$ 5-HT-induced porcine coronary artery with the endothelium. In the porcine artery with the endothelium, ginseng saponins induced a relaxation by $3\;{\mu}M$ 5-HT in a concentration-dependent pattern. Ginseng saponins induced relaxation of both 25 mM KCl- and $3\;{\mu}M$ 5-HT-induced coronary artery contraction in the absence and presence of the endothelium. In contrast, treatment with $100\;{\mu}g/mL$ ginseng saponin did not induce relaxation in coronary artery contraction induced by Ach ($0.01\;{\mu}M$ to $30\;{\mu}M$) in the presence of the endothelium, but did cause significant relaxation of coronary artery contractions by Ach ($0.01\;{\mu}M$ to $30\;{\mu}M$) in the absence of the endothelium. These findings indicate that ginseng saponin (> $100\;{\mu}g/mL$) significantly inhibits porcine coronary artery contractions caused by $K^+$, 5-HT, and Ach. Therefore, in this study, we demonstrated that ginseng saponin may show beneficial roles on abnormal coronary contraction.

• Journal of the Korean Society of Food Science and Nutrition
• /
• v.39 no.3
• /
• pp.376-382
• /
• 2010

It has been shown that BF-7 enhances short- and long-term memory and attention in normal person. BF-7 was addressed to clinical study for children if BF-7 is also effective to children, since accumulated verification of safety and effectiveness is needed for young ages, in special. We administered BF-7 and a placebo control to two different groups of children (7-12 years old, 9.78 on averages). Their memory enhancement was tested with Rey-Kim Memory Test for Children before and after the administration of BF-7 and a placebo, in a double blinded way. The results showed that long- and short-term memories were significantly improved by the administration of BF-7. Interestingly, the degree of memory preservation, the ability of memory application and awareness of complex thing were also significantly improved. These results indicate that BF-7 is a promising substance from natural resource improving learning and memory of children as well as cognitive function of adults