Lee, Ji Hyen;Kim, Hae Soon;Kim, Gu-Hwan;Yoo, Han-Wook
Journal of Genetic Medicine
/
v.14
no.1
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pp.18-22
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2017
Pseudohypoparathyroidism type 1b (PHP 1b) is the result of end organ resistance to parathyroid hormone (PTH) in the absence of any features of Albright's hereditary osteodystrophy. There are two subtypes of PHP 1b with different genetic mechanisms. One subtype is related to a maternally derived 3kb microdeletion involving STX 16 gene, and is inherited in an autosomal dominant mode. Familial autosomal dominant inheritance of PHP 1b is relatively rare. The other subtype is associated with more extensive loss of imprinting at the GNAS locus that affects at least one additional differential methylated (hypermethylation at neuroendocrine secretory protein and hypomethylation at antisense transcript and or extra-large stimulatory G protein region) without microdeletion of the STX 16 or AS gene. It can be sporadic due to an imprinting defect in the GNAS gene. In our case, an 8-year-old girl was referred for suspected PHP with no feature of Albright hereditary osteodystrophy. Blood test results revealed hypocalcemia and hyperphosphatemia. Elevated PTH was also checked. There was no family history of endocrine or developmental problem. Her intelligence was normal, but she had inferior sociability at that time. Based on above, we diagnosed a rare case of paternal uniparental disomy of the long arm of chromosome 20 as the cause of PHP 1b by microsatellite marker test of chromosome 20.
Objective To examine the long-term effects of the low-frequency repetitive transcranial magnetic stimulation (LF-rTMS) combined with task-specific training on paretic hand function following subacute stroke. Methods Sixteen participants were randomly selected and grouped into two: the experimental group (real LF-rTMS) and the control group (sham LF-rTMS). All the 16 participants were then taken through a 1-hour task-specific training of the paretic hand. The corticospinal excitability (motor evoke potential [MEP] amplitude) of the non-lesioned hemisphere, and the paretic hand performance (Wolf Motor Function Test total movement time [WMFT-TMT]) were evaluated at baseline, after the LF-rTMS, immediately after task-specific training, 1 and 2 weeks after the training. Results Groups comparisons showed a significant difference in the MEP after LF-rTMS and after the training. Compared to the baseline, the MEP of the experimental group significantly decreased after LF-rTMS and after the training and that effect was maintained for 2 weeks. Group comparisons showed significant difference in WMFT-TMT after the training. Only in the experimental group, the WMFT-TMT of the can lifting item significantly reduced compared to the baseline and the effect was sustained for 2 weeks. Conclusion The results of this study established that the improvement in paretic hand after task-specific training was enhanced by LF-rTMS and it persisted for at least 2 weeks.
Objective: This study aimed to provide efficacy and safety information on the use of erenumab for prevention of episodic and chronic migraines. Methods: The keywords "Erenumab and migraine" were used to search the PubMed database to then compile efficacy and safety data for erenumab. Data from relevant Phase 2 and Phase 3 clinical trials were analyzed, using RevMan for statistical analysis. Results: Three clinical trials (one Phase 2 and two Phase 3 studies) were retrieved. All three trials used the same primary endpoint (change from baseline in monthly migraine days (CBMD)) to evaluate efficacy and safety of erenumab use for prevention of episodic and chronic migraines. Subcutaneous doses of erenumab (70 or 140 mg) were administered monthly in each trial, for 3 months (Studies 2, and 3) or 6 months (Study 1). The mean differences in CBMD in the 70 mg and 140 mg erenumab arms were -1.36 and -1.98, respectively, compared to that in the placebo arm. Some adverse events, such as nasopharyngitis and upper respiratory tract infection, were reported, but no differences in safety between erenumab and placebo were found to be significant. Conclusions: Erenumab showed superior efficacy in prevention of migraines compared to placebo. However, additional information regarding the long-term safety of erenumab should be collected. Therefore, post-marketing surveillance for adverse events is needed.
Ahn, Sang-Hoon;Kang, So Hyun;Lee, Yoontaek;Min, Sa-Hong;Park, Young Suk;Park, Do Joong;Kim, Hyung-Ho
Journal of Gastric Cancer
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v.19
no.1
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pp.102-110
/
2019
Purpose: Despite an increased acceptance of laparoscopic gastrectomy (LG) in early gastric cancer (EGC), there is insufficient evidence for its oncological safety in advanced gastric cancer (AGC). This is a prospective phase II clinical trial to evaluate the feasibility of LG with D2 lymph node dissection (LND) in AGC. Materials and Methods: The primary endpoint was set as 3-year disease-free survival (DFS). The eligibility criteria were as follows: 20-80 years of age, cT2N0-cT4aN3, American Society of Anesthesiologists score of 3 or less, and no other malignancy. Patients were enrolled in this single-arm study between November 2008 and May 2012. Exclusion criteria included cT4b or M1, or having final pathologic results as EGC. All patients underwent D2 lymphadenectomy. Three-year DFS rates were estimated by the Kaplan-Meier method. Results: A total of 157 patients were enrolled. The overall local complication rate was 10.2%. Conversion to open surgery occurred in 11 patients (7.0%). The mean follow-up period was $55.0{\pm}20.4months$ (1-81 months). The cumulative 3-year DFS rates were 76.3% for all stages, and 100%, 89.3%, 100%, 88.0%, 71.4%, and 35.3% for stage IB, IIA, IIB, IIIA, IIIB, and IIIC, respectively. Recurrence was observed in 37 patients (23.6%), including hematogenous (n=6), peritoneal (n=13), locoregional (n=1), distant node (n=8), and mixed recurrence (n=9). Conclusions: In addition to being technically feasible for treatment of AGC in terms of morbidity, LG with D2 LND for locally advanced gastric cancer showed acceptable 3-year DFS outcomes.
Background: Bu-Zhong-Yi-Qi-Tang (BZYQT) has long been used for the treatment of severe weakness caused by general fatigue, loss of appetite, or indigestion. The aim of this feasibility study is to assess the effectiveness and safety of BZYQT for the treatment of functional dyspepsia (FD) with spleen qi deficiency. Methods: This study will be conducted at a single center as a prospective, nonrandomized, nonblinded, single-arm feasibility study. A total of 30 participants diagnosed with FD in accordance with the Rome III criteria will be enrolled. All patients will receive BZYQT for 4 weeks. The primary outcome is the change in the Nepean Dyspepsia Index-Korean version (NDI-K) scores between the baseline and 4-week images. The secondary outcomes include the tongue coating thickness, blood parameters, and BZYQT Questionnaire score. The NDI-K score will be acquired four times, at Weeks 0 (baseline), 2 (during treatment), 4 (after treatment), and 8 (after follow-up). Written informed consent will be obtained from all study participants prior to enrollment. This study has been approved by the Institutional Review Board of Kyung Hee University Korean Medicine Hospital. This study protocol is registered with the national clinical trial registry of the World Health Organization International Clinical Trials Registry Platform. Results will be published in a journal and will be disseminated both electronically and in print. Discussion: The results of this study may serve as a guide for researchers seeking to effectively evaluate the effects of BZYQT.
Objectives: We aimed to study the role of vestibular input on spatial memory performance in mice that had undergone bilateral surgical labyrinthectomy, semicircular canal (SCC) occlusion and 4G hypergravity exposure. Methods: Twelve to 16 weeks old ICR mice (n=30) were used for the experiment. The experimental group divided into 3 groups. One group had undergone bilateral chemical labyrinthectomy, and the other group had performed SCC occlusion surgery, and the last group was exposed to 4G hypergravity for 2 weeks. The movement of mice was recorded using camera in Y maze which had 3 radial arms (35 cm long, 7 cm high, 10 cm wide). We counted the number of visiting arms and analyzed the information of arm selection using program we developed before and after procedure. Results: The bilateral labyrinthectomy group which semicircular canal and otolithic function was impaired showed low behavioral performance and spacial memory. The semicircular canal occlusion with $CO_2$ laser group which only semicircular canal function was impaired showed no difference in performance activity and spatial memory. However the hypergravity exposure group in which only otolithic function impaired showed spatial memory function was affected but the behavioral performance was spared. The impairment of spatial memory recovered after a few days after exposure in hypergravity group. Conclusions: This spatial memory function was affected by bilateral vestibular loss. Space-related information processing seems to be determined by otolithic organ information rather than semicircular canals. Due to otolithic function impairment, spatial learning was impaired after exposure to gravity changes in animals and this impaired performance was compensated after normal gravity exposure.
Han, Jin Woo;Sun, Hook;Kim, Jin Woo;Yun, Ji Young;Chung, Eui Han;Oh, Min Jun
Archives of Plastic Surgery
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v.48
no.1
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pp.55-60
/
2021
Background In patients with congenital melanocytic nevus (CMN), single-stage removal of large lesions can be difficult because the high tension created by excising and repairing a large lesion may result in scar widening. Herein, we introduce a method to effectively excise lesions while minimizing scarring and compare its outcomes to those of existing surgical methods. Methods We compared patients who underwent surgery using the anchoring technique (n=42) or the conventional elliptical technique (n=36). One side of the lesion was removed via en bloc resection up to the superficial fascia. The other side of the lesion was removed via de-epithelialization. The de-epithelialized dermal flap was then fixed by suturing it to the superficial fascia on the opposite side. The length of the lesion's long axis and amount of scar widening were measured immediately after surgery and at 2, 6, and 12 months postoperatively. At 12 months, patients were assessed using the Patient and Observer Scar Assessment Scale. Results The lesion locations included the face, arms, legs, back, and abdomen. The anchoring method resulted in shorter and smaller scars than the conventional method. There were no cases of postoperative hematoma or wound dehiscence. Significant differences in postoperative scar widening were found in the arm and leg areas (P<0.05). Conclusions The anchoring method introduced in this study can provide much better outcomes than the conventional method. The anchoring method is particularly useful for the removal of CMN around the joints or extremities, where the surgical site is subjected to high tension.
Purpose: A phase II study was conducted to evaluate the safety and efficacy of preoperative, intra-arterial perfusion of epirubicin, etoposide, and oxaliplatin combined with oral chemotherapy S-1 (SEEOX) for the treatment of type 4 gastric cancer. Materials and Methods: A single-center, single-arm phase II trial was conducted on 36 patients with histologically proven type 4 gastric cancer without distant peritoneal or organ metastasis. Patients received 3, 21-day courses of SEEOX preoperative chemotherapy. The primary endpoint was overall survival (OS) and the secondary outcomes assessed were chemotherapeutic response, radical resection rate, pathological regression, toxicities, postoperative morbidity, and mortality. Results: All patients were at an advanced stage of cancer (stage III or IV) and completed the entire course of treatment. Based on changes in tumor volume and peritoneal metastasis, the objective response rate was 55.6% (20/36; 95% confidence interval [CI], 38.5%-72.6%) and the disease control rate was 69.4% (25/36; 95% CI, 53.6%-85.3%). The radical resection rate was 75% (27/36; 95% CI, 60.1%-89.9%) and the proportion of R0 resections was 66.7% (21/36; 95% CI, 50.5%-82.8%). The pathological response rate was 33.3%, of which 13.9% showed complete pathological regression. The median survival was 27.1 months (95% CI, 22.24-31.97 months), and the 2-year OS was 48.5% (95% CI, 30.86%-66.1%). Conclusions: Preoperative SEEOX is a safe and effective treatment for type 4 gastric cancer. Based on these preliminary data, a phase III study will be conducted to confirm the superiority of this regimen over standard treatment.
Background: Complex regional pain syndrome (CRPS)-related hand lesions are one of the complications following arthroscopic rotator cuff repair (ARCR). This study aimed to investigate the clinical outcomes of patients with CRPS-related hand lesions following ARCR. Methods: Altogether, 103 patients with ARCR were included in this study (mean age, 63.6±8.2 years; 66 males and 37 females; follow-up period, preoperative to 12 months postoperative). Clinical assessment included the Japanese Orthopaedic Association (JOA) score, University of California, Los Angeles (UCLA) score, Constant score, 36-item short form health survey (SF-36) score, and Quick Disabilities of the Arm, Shoulder, and Hand (QuickDASH) score from preoperative to 12 months postoperatively. The patients were either assigned to the CRPS group or non-CRPS group depending on CRPS diagnosis until the final follow-up, and clinical outcomes were then compared between the groups. Results: Of 103 patients, 20 (19.4%) had CRPS-related hand lesions that developed entirely within 2 months postoperatively. Both groups showed significant improvement in JOA, UCLA, and Constant scores preoperatively to 12 months postoperatively (p<001). Comparisons between the two groups were not significantly different, except for SF-36 "general health perception" (p<0.05) at 12 months postoperatively. At final follow-up, three patients had residual CRPS-related hand lesions with limited range of motion and finger edema. Conclusions: CRPS-related hand lesions developed in 19.4% of patients following ARCR. Shoulder or upper-limb function improved in most cases at 12 months, with satisfactory SF-36 patient-based evaluation results. Patients with residual CRPS-related hand lesions at the last follow-up require long-term follow-up.
Kang, Il Ho;Park, Bong Jin;Park, Chang Kyu;Malla, Hridayesh Pratap.;Lee, Sung Ho;Rhee, Bong Arm
Journal of Korean Neurosurgical Society
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v.59
no.6
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pp.637-642
/
2016
Objective : Although many treatment modalities have been introduced for trigeminal neuralgia (TN), the long-term clinical results remain unsatisfactory. It has been particularly challenging to determine an appropriate treatment strategy for patients who have responded poorly to initial therapies. We analyzed the surgical outcomes in TN patients who failed prior treatments. Methods : We performed a retrospective analysis of 37 patients with recurrent or persistent TN symptoms who underwent surgery at our hospital between January 2010 and December 2014. Patients with follow-up data of at least one year were included. The prior treatment modalities of the 37 patients included microvascular decompression (MVD), gamma knife radiosurgery (GKRS), and percutaneous procedures such as radiofrequency rhizotomy (RFR), balloon compression, and glycerol rhizotomy (GR). The mean follow-up period was 69.9 months (range : 16-173). The mean interval between the prior treatment and second surgery was 26 months (range : 7-123). We evaluated the surgical outcomes using the Barrow Neurological Institute (BNI) pain intensity scale. Results : Among the 37 recurrent or persistent TN patients, 22 underwent MVD with partial sensory rhizotomy (PSR), 8 received MVD alone, and 7 had PSR alone. Monitoring of the surgical treatment outcomes via the BNI pain intensity scale revealed 8 (21.6%) patients with a score of I, 13 (35.1%) scoring II, 13 (35.1%) scoring III, and 3 (8.2%) scoring IV at the end of the follow-up period. Overall, 91.8% of patients had good surgical outcomes. With regard to postoperative complications, 1 patient had transient cerebrospinal fluid rhinorrhea (2.7%), another had a subdural hematoma (2.7%), and facial sensory changes were noted in 8 (21.1%) patients after surgery. Conclusion : Surgical interventions, such as MVD and PSR, are safe and very effective treatment modalities in TN patients who failed initial or prior treatments. We presume that the combination of MVD with PSR enabled us to obtain good short- and long-term surgical outcomes. Therefore, aggressive surgical treatment should be considered in patients with recurrent TN despite failure of various treatment modalities.
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