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Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center

  • Kim, Min-Sun;Song, Ari;Im, Minji;Huh, June;Kang, I-Seok;Song, Jinyoung;Yang, Aram;Kim, Jinsup;Kwon, Eun-Kyung;Choi, Eu-Jin;Han, Sun-Ju;Park, Hyung-Doo;Cho, Sung Yoon;Jin, Dong-Kyu
    • Clinical and Experimental Pediatrics
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    • v.62 no.6
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    • pp.224-234
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    • 2019
  • Purpose: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before and after enzyme replacement therapy (ERT), and long-term outcomes in patients with infantile-onset PD (IOPD) and late-onset PD (LOPD) at a tertiary medical center. Methods: The medical records of 5 Korean patients (2 male, 3 female patients) diagnosed with PD between 2002 and 2013 at Samsung Medical Center in Seoul, Republic of Korea were retrospectively reviewed for data, including clinical and genetic characteristics at diagnosis and clinical course after ERT. Results: Common initial symptoms included hypotonia, cyanosis, and tachycardia in patients with IOPD and limb girdle weakness in patients with LOPD. Electrocardiography at diagnosis revealed hypertrophic cardiomyopathy in all patients with IOPD who showed a stable disease course during a median follow-up period of 10 years. Patients with LOPD showed improved hepatomegaly and liver transaminase level after ERT. Conclusion: As ERT is effective for treatment of PD, early identification of this disease is very important. Thus, patients with IOPD should be considered candidates for clinical trials of new drugs in the future.

Mandibular reconstruction with a ready-made type and a custom-made type titanium mesh after mandibular resection in patients with oral cancer

  • Lee, Won-bum;Choi, Won-hyuk;Lee, Hyeong-geun;Choi, Na-rae;Hwang, Dae-seok;Kim, Uk-kyu
    • Maxillofacial Plastic and Reconstructive Surgery
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    • v.40
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    • pp.35.1-35.7
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    • 2018
  • Background: After the resection at the mandibular site involving oral cancer, free vascularized fibular graft, a type of vascularized autograft, is often used for the mandibular reconstruction. Titanium mesh (T-mesh) and particulate cancellous bone and marrow (PCBM), however, a type of non-vascularized autograft, can also be used for the reconstruction. With the T-mesh applied even in the chin and angle areas, an aesthetic contour with adequate strength and stable fixation can be achieved, and the pores of the mesh will allow the rapid revascularization of the bone graft site. Especially, this technique does not require microvascular training; as such, the surgery time can be shortened. This advantage allows older patients to undergo the reconstructive surgery. Case presentation: Reported in this article are two cases of mandibular reconstruction using the ready-made type and custom-made type T-mesh, respectively, after mandibular resection. We had operated double blind peer-review process. A 79-year-old female patient visited the authors' clinic with gingival swelling and pain on the left mandibular region. After wide excision and segmental mandibulectomy, a pectoralis major myocutaneous flap was used to cover the intraoral defect. Fourteen months postoperatively, reconstruction using a ready-made type T-mesh (Striker-Leibinger, Freibrug, Germany) and iliac PCBM was done to repair the mandible left body defect. Another 62-year-old female patient visited the authors' clinic with pain on the right mandibular region. After wide excision and segmental mandibulectomy on the mandibular squamous cell carcinoma (SCC), reconstruction was done with a reconstruction plate and a right fibula free flap. Sixteen months postoperatively, reconstruction using a custom-made type T-mesh and iliac PCBM was done to repair the mandibular defect after the failure of the fibula free flap. The CAD-CAM T-mesh was made prior to the operation. Conclusions: In both cases, sufficient new-bone formation was observed in terms of volume and strength. In the CAD-CAM custom-made type T-mesh case, especially, it was much easier to fix screws onto the adjacent mandible, and after the removal of the mesh, the appearance of both patients improved, and the neo-mandibular body showed adequate bony volume for implant or prosthetic restoration.

A Study of the Effectiveness of Basic CPR (Cardiopulmonary Resuscitation) Education of Primary School Children (일부 초등학생의 기본심폐소생술 교육효과에 대한 연구)

  • Kang, Hea-Eun;Kim, Hyeon-Suk;Kim, Yun-Shin
    • Journal of the Korean Society of School Health
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    • v.24 no.1
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    • pp.118-128
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    • 2011
  • Purpose: This research is based on experiments practiced with 6th grade students in primary school as subjects. They were trained in basic cardiopulmonary resuscitation theory and received actual training in CPR. Methods: The subjects were randomly sorted into two classes of the 6th grade students. The experimental group was composed of 35 students. The control group was composed of 32. The experimental group received basic CPR theoretical and practical education once and received a practical evaluation three times, with 4 weeks in between evaluations. The control group received CPR theoretical education before the study. The data was analyzed by ${\chi}^2$-test and t-test using the SPSS/WIN 12.0 program. Results: Hypothesis 1 was that the basic CPR knowledge score would begin to decrease right after the education and continue to decrease as time passed. The experimental group's knowledge score continued to increase 12 weeks after education, but there was no decrease in the control group's knowledge score (F=5.870, p=.000). Hypothesis 2 was that the basic CPR attitude score would decrease right after the education and continue as time passed. There was no significant difference in the experimental group's score after education, nor was there any change in the control group's score on this measure (F=3.986, p=.004). Hypothesis 3 was that the subjects' confidence in practicing CPR would decrease right after education and continue as time passed. There was a significant decrease in the experimental group's score, but no significant change in the control group's score on this measure (F=75.574, p=.000). Hypothesis 4 was that the practical accomplishment evaluation score of CPR would decrease as time passed. There was a significant decrease in the experimental group's score on this measure right after education (F=38.368, p=000). Conclusion: Retraining for basic CPR education will be needed in all aspects of the education/training at least every 4 weeks, to preserve the students' retention of learned material/training. This is because students' scores fell significantly four weeks after education/training.

Study on Osseointegration of the Immediate Placement Using Korean Implant Systems in Beagle Dog (성견에서 즉시 임플란트 식립시 국내 임플란트에서의 골 유착반응에 관한 연구)

  • Seo, Jung-Yoon;Lee, Wook-Jae;Lee, Jong-cheol;Shin, Mee-Ran;Kim, Yun-Sang;Pi, Sung-Hee;Shin, Hyung-Shik;You, Hyung-Keun
    • Journal of Periodontal and Implant Science
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    • v.37 no.2
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    • pp.223-236
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    • 2007
  • This study was attempted to evaluate home-manufactured implants by placing $Stage-1^{(R)}$ Implant (Lifecore, Co., USA) whose surface is treated with REM that has already been varified clinically,$Chaorum^{(R)}$ Implant(Chaorum Co., Korea) whose surface treatment is same as that of Stage-1 Implant and $Atlas^{(R)}$ Implant(Cewellmedi Co., Korea) whose surface is treated with anodic oxidation immediately after the teeth of experimental animals were extracted to compare histological findings among them. Stage-l Implant(diameter: 3.5mm, length: IOmm), Chaorum Implant(diameter: 3.3mm, length: 8.5mm) and Cowell medi Implant(diameter: 4.0mm, length: 8.0mm) were placed into the mandible premolars of 2 adult beagle dogs immediately after their teeth were extracted, and then histological findings were analyzed at 6 weeks. After those implants were inserted directly after their teeth were extracted, the results of periotest were recorded, radiography was done, the subjects went through thorough control for 6 weeks, and then comparison among periotest, radiography and histological finding was made. After comparison of those findings, the values of periotest were satisfactory and bone healing was relatively satisfactory on radiography at 6 weeks. For osseointegration with the bone tissue, Stage-1 was 45.3%, Chaorum 55.3%, and Cowellmedi 52.5%, which was a satisfactory result. Although implant surgery immediately after teeth were extracted involves difficulties among recent implant surgeries, it is being frequently used in that it may reduce surgery hours, the frequency of surgery, and bone loss for patients. This experiment was conducted to evaluate the technological levels of home-manufactured implants that have been remarkably developed in recent years and in conclusion, those implants showed nearly similar result.

Risk factors for postoperative nausea and vomiting in patients of orthognathic surgery according to the initial onset time: a cross-sectional study

  • Emi Ishikawa;Takayuki Hojo;Makiko Shibuya;Takahito Teshirogi;Keiji Hashimoto;Yukifumi Kimura;Toshiaki Fujisawa
    • Journal of Dental Anesthesia and Pain Medicine
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    • v.23 no.1
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    • pp.29-37
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    • 2023
  • Background: A high incidence (40-73%) of postoperative nausea and vomiting (PONV) has been reported following orthognathic surgery, and various risk factors have been associated with it. Identifying PONV risk factors based on initial onset time will help establish preventive measures. This study aimed to identify factors that are significantly related to PONV based on the initial onset time after orthognathic surgery. Methods: This study included 590 patients who underwent orthognathic surgery. Multivariate logistic regression analysis was performed to identify the risk factors that are significantly related to PONV. The objective variables were classified into three categories: no PONV, early PONV (initial onset time: 0-2 h after anesthesia), and late PONV (initial onset time: 2-24 h after anesthesia). The explanatory variables included relevant risk factors for PONV, as considered in previous studies. Results: Total intravenous anesthesia with propofol was a significant depressant factor for early PONV (adjusted odds ratio [aOR] = 0.340, 95% confidence interval [CI] = 0.209-0.555) and late PONV (aOR = 0.535, 95% CI = 0.352-0.814). The administration of a combination of intraoperative antiemetics (vs. no administration) significantly reduced the risk of early PONV (aOR = 0.464, 95% CI = 0.230-0.961). Female sex and young age were significant risk factors for late PONV (aOR = 1.492, 95% CI = 1.170-1.925 and unit aOR = 1.033, 95% CI = 1.010-1.057, respectively). Conclusion: We identified factors that are significantly related to PONV based on the initial onset time after orthognathic surgery. Total intravenous anesthesia with propofol significantly reduced the risk of PONV not only in the early period (0-2 h after anesthesia) but also in the late period (2-24 h after anesthesia).

Surface changes of metal alloys and high-strength ceramics after ultrasonic scaling and intraoral polishing

  • Yoon, Hyung-In;Noh, Hyo-Mi;Park, Eun-Jin
    • The Journal of Advanced Prosthodontics
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    • v.9 no.3
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    • pp.188-194
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    • 2017
  • PURPOSE. This study was to evaluate the effect of repeated ultrasonic scaling and surface polishing with intraoral polishing kits on the surface roughness of three different restorative materials. MATERIALS AND METHODS. A total of 15 identical discs were fabricated with three different materials. The ultrasonic scaling was conducted for 20 seconds on the test surfaces. Subsequently, a multi-step polishing with recommended intraoral polishing kit was performed for 30 seconds. The 3D profiler and scanning electron microscopy were used to investigate surface integrity before scaling (pristine), after scaling, and after surface polishing for each material. Non-parametric Friedman and Wilcoxon signed rank sum tests were employed to statistically evaluate surface roughness changes of the pristine, scaled, and polished specimens. The level of significance was set at 0.05. RESULTS. Surface roughness values before scaling (pristine), after scaling, and polishing of the metal alloys were $3.02{\pm}0.34{\mu}m$, $2.44{\pm}0.72{\mu}m$, and $3.49{\pm}0.72{\mu}m$, respectively. Surface roughness of lithium disilicate increased from $2.35{\pm}1.05{\mu}m$ (pristine) to $28.54{\pm}9.64{\mu}m$ (scaling), and further increased after polishing ($56.66{\pm}9.12{\mu}m$, P<.05). The zirconia showed the most increase in roughness after scaling (from $1.65{\pm}0.42{\mu}m$ to $101.37{\pm}18.75{\mu}m$), while its surface roughness decreased after polishing ($29.57{\pm}18.86{\mu}m$, P<.05). CONCLUSION. Ultrasonic scaling significantly changed the surface integrities of lithium disilicate and zirconia. Surface polishing with multi-step intraoral kit after repeated scaling was only effective for the zirconia, while it was not for lithium disilicate.

The Effects of Pre-emptive Administration of Ketamine and norBNI on Pain Behavior, c-Fos, and Prodynorphin Protein Expression in the Rat Spinal Cord after Formalin-induced Pain Is Modulated by the DREAM Protein

  • Long, Idris;Suppian, Rapeah;Ismail, Zalina
    • The Korean Journal of Pain
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    • v.26 no.3
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    • pp.255-264
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    • 2013
  • Background: We investigated the effects of pre-emptive administration of ketamine and norBNI on pain behavior and the expression of DREAM, c-Fos, and prodynorphin proteins on the ipsilateral side of the rat spinal cord at 2 and 4 hours after formalin injection. Methods: Eighty-four male Sprague Dawley rats were divided into 4 major groups consisting of control rats (C) (n = 12), rats given only formalin injections (F) (n = 24), and rats treated with pre-emptive administration of either ketamine (K+F) (n = 24) or norBNI (N+F) (n = 24). The non-control groups were further divided into subgroups consisting of rats that were sacrificed at 2 and 4 hours (n = 12 for each group) after formalin injection. Pain behavior was recorded for 1 hour. After 2 and 4 hours, the rats were sacrificed and the spinal cords (L4-L5 sections) were removed for immunohistochemistry and Western blot analysis. Results: The pain behavior response was reduced in the K+F group compared to the other groups during the second phase of the formalin pain response. We detected an increase in the nuclear DREAM protein level in the K+F group at 2 and 4 hours and a transient decrease in the N+F group at 2 hours; however, it increased at 4 hours after injection. Fos-like immunoreactivity (FLI) and Prodynorphin-like immunoreactivity (PLI) neurons decreased in the K+F group but increased in the N+F group at 2 hours after injection. While FLI decreased, PLI increased in all groups at 4 hours after injection. Conclusions: We suggest that NMDA and kappa opioid receptors can modulate DREAM protein expression, which can affect pain behavior and protein transcriptional processes at 2 hours and bring about either harmful or protective effects at 4 hours after formalin injection.

Effects of Quercetin and Mannitol on Erythropoietin Levels in Rats Following Acute Severe Traumatic Brain Injury

  • Kalemci, Orhan;Aydin, Hasan Emre;Kizmazoglu, Ceren;Kaya, Ismail;Yilmaz, Hulya;Arda, Nuri M
    • Journal of Korean Neurosurgical Society
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    • v.60 no.3
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    • pp.355-361
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    • 2017
  • Objective : The aim of this study to investigate the normal values of erythropoietin (EPO) and neuroprotective effects of quercetin and mannitol on EPO and hematocrit levels after acute severe traumatic brain injury (TBI) in rat model. Methods : A weight-drop impact acceleration model of TBI was used on 40 male Wistar rats. The animals were divided into sham (group I), TBI (group II), TBI+quercetin (50 mg/kg intravenously) (group III), and TBI+mannitol (1 mg/kg intravenously) (group IV) groups. The malondialdehyde, glutathione peroxidase, catalase, EPO, and hematocrit levels were measured 1 and 4 hour after injury. Two-way repeated measures analysis of variance and Tukey's test were used for statistical analysis. Results : The malondialdehyde levels decreased significantly after administration of quercetin and mannitol compared with those in group II. Catalase and glutathione peroxidase levels increased significantly in groups III and IV. Serum EPO levels decreased significantly after mannitol but not after quercetin administration. Serum hematocrit levels did not change significantly after quercetin and mannitol administration 1 hour after trauma. However, mannitol administration decreased serum hematocrit levels significantly after 4 hour. Conclusion : This study suggests that quercetin may be a good alternative treatment for TBI, as it did not decrease the EPO levels.

Characteristics of Basalt Materials Derived from Recycling Steel Industry Slags (철강산업 슬래그를 이용하여 제조한 바잘트 소재의 특성)

  • Jung, Woo-Gwang;Back, Gu-Seul;Yoon, Mi-Jung;Lee, Jee-Wook
    • Korean Journal of Materials Research
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    • v.27 no.5
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    • pp.281-288
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    • 2017
  • In this study, Fe-Ni slag, converter slag and dephosphorization slag generated from the steel industry, and fly ash or bottom ash from a power plant, were mixed at an appropriate mixing ratio and melted in a melting furnace in a mass-production process for glass ceramics. Then, glass-ceramic products, having a basalt composition with $SiO_2$, $Al_2O_3$, CaO, MgO, and $Fe_2O_3$ components, were fabricated through casting and heat treatment process. Comparison was made of the samples before and after the modification of the process conditions. Glass-ceramic samples before and after the process modification were similar in chemical composition, but $Al_2O_3$ and $Na_2O$ contents were slightly higher in the samples before the modification. Before and after the process modification, it was confirmed that the sample had a melting temperature below $1250^{\circ}C$, and that pyroxene and diopside are the primary phases of the product. The crystallization temperature in the sample after modification was found to be higher than that in the sample before modification. The activation energy for crystallization was evaluated and found to be 467 kJ/mol for the sample before the process modification, and 337 kJ/mol for the sample after the process modification. The degree of crystallinity was evaluated and found to be 82 % before the process change and 87 % after the process change. Mechanical properties such as compressive strength and bending strength were evaluated and found to be excellent for the sample after process modification. In conclusion, the samples after the process modification were evaluated and found to have superior characteristics compared to those before the modification.

Positional change of the condylar heads after wearing complete denture on dental cone beam CT (치과용 콘빔 CT영상에서 총의치 장착 후 하악과두의 위치변화)

  • Lee, Bong-Ho;Kim, Jae-Duk;Chung, Chae-Heon
    • Imaging Science in Dentistry
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    • v.38 no.1
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    • pp.23-27
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    • 2008
  • Purpose: The aim of this study was to evaluate the change in the position of the mandibular condyle within articular fossa by a CBCT after wearing complete denture (CD). Materials and Methods: CBCT of 34 temporomandibular joints were taken from 9 male and 8 female patients with CB $Mercuray^{TM}$ (Hitachi, Japan) before and after wearing a CD for rehabilitation. Position of mandibular condyle within articular fossa at centric occlusion was evaluated with $Vimplant2.0^{TM}$ (CyberMed, Korea) on the central parasagittal view and curved panoramic coronal view of the condylar head. A statistical evaluation was done with SPSS. Results: The range of anteroposterior positional rate (AP) of condylar head within articular fossa was -16-5 and -10-12 respectively on the right and left sides. Before wearing CD, the AP rate showed discrepancy between right and left sides (p<0.05). After wearing CD, both condyles showed a tendency to decrease in posterior condylar position (right side; p<0.05). The average discrepancy between right and left side in mediolateral positional rate (MD) was 15.5 and 4.5 respectively before and after wearing CD. The improvement was observed in mediolateral relationship of both condylar heads after wearing CD (p< 0.01). Before wearing CD, the average horizontal angle of long axis of condylar head was $79.6{\pm}2.7^{\circ}\;and\;80.1{\pm}5.7^{\circ}$ respectively on the right and left sides. After wearing CD, both condyles were rotated in the same direction in average on axial plane. Conclusion: We observed with CBCT the significant clinical evidence in case of positional change of mandibular condyle after wearing complete denture.

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