• Journal of Genetic Medicine
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• 제19권2호
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• pp.105-110
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• 2022

The microdeletion syndrome of chromosome 2p15p16.1 (MIM: 612513) is an extremely rare contiguous gene deletion syndrome. Microdeletions of varying sizes in the 2p15-16.1 region are associated with developmental delay, intellectual disability, autism spectrum disorder, hypotonia, and craniofacial dysmorphism. Previous studies have identified two critical regions: the proximal 2p15 and distal 2p16.1 regions. BCL11A, PAPOLG, and REL genes play crucial roles in patients with 2p16.1 microdeletion. To our knowledge, only 39 patients have been reported as having 2p15p16.1 microdeletion syndrome. Here, we present another patient with 2p15p16.1 microdeletion syndrome. A nine-month-old boy was referred to our clinic for the psychomotor delay, facial dysmorphism, and congenital hypothyroidism. During his follow-up visits, he was diagnosed with global developmental delay, intellectual disability, abnormal behavior, hypotonia, microcephaly, and abnormal electroencephalography. Using a chromosomal microarray for genetic analysis, a novel, de novo, 622 kb microdeletion of 2p16.1 was identified as one of the critical regions of the 2p15p16.1 microdeletion syndrome. This is the first case of its kind in Korea. We have discussed our case and literature reviews to clarify the relationship between the genes involved and clinical phenotypes in 2p15p16.1 microdeletion syndrome.

• 대한두개안면성형외과학회지
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• 제23권6호
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• pp.256-261
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• 2022

Background: Treating panfacial fractures (PFFs) can be extremely difficult even for experienced surgeons. Although several authors have attempted to systemize the surgical approach, performing surgery by applying a unidirectional sequence is much more difficult in practice. The purpose of this study was to review the literature on PFF surgery sequence and to understand how different surgical specialists-plastic reconstructive surgery (PRS) and oral maxillofacial surgery (OMS)-chose sequence and review PFFs fixation sequence in clinical cases. Methods: The PubMed and Google Scholar databases were scoured for publications published up until May 2020. Data extracted from the studies using standard templates included fracture part, fixation sequence, originating specialist, and the countries. Bibliographic details like author and year of publication were also extracted. Also, we reviewed the data for PFFs patients in the Trauma Registry System of Dankook University Hospital from 2011 to 2021. Results: In total, 240 articles were identified. This study comprised 22 studies after screening and full-text analysis. Sixteen studies (12 OMS specialists and 4 PRS specialists) used a "bottom-top" approach, whereas three studies (1 OMS specialist and 2 PRS specialists) used a "top-bottom" method. However, three studies (only OMS specialists) reported on both sequences. In our hospital, there were a total of 124 patients with PFF who were treated during 2011 to 2021; 64 (51.6%) were in upper-middle parts, 52 (41.9%) were in mid-lower parts, and eight (6.5%) were in three parts. Conclusion: Bottom-top sequencing was mainly used in OMS specialists, and top-bottom sequencing was used at a similar rate by two specialists in literature review. In our experience, however, it was hard to consistently implement unidirectional sequence suggested by a literature review. We realigned the reliable and stable buttresses first with tailoring individually for each patient, rather than proceeding in the unidirectional sequence like bottom-top or top-bottom.

• 대한두개안면성형외과학회지
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• 제23권6호
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• pp.262-268
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• 2022

Background: To compare the sensory change and recovery of infraorbital area associated with zygomaticomaxillary and orbital floor fractures and their recoveries and investigate the factors that affect them. Methods: We retrospectively reviewed 652 patients diagnosed with zygomaticomaxillary (n= 430) or orbital floor (n= 222) fractures in a single center between January 2016 and January 2021. Patient data, including age, sex, medical history, injury mechanism, Knight and North classification (in zygomaticomaxillary fracture cases), injury indication for surgery (in orbital floor cases), combined injury, sensory change, and recovery period, were reviewed. The chi-square test was used for statistical analysis. Results: Orbital floor fractures occurred more frequently in younger patients than zygomaticomaxillary fractures (p< 0.001). High-energy injuries were more likely to be associated with zygomaticomaxillary fractures (p< 0.001), whereas low-energy injuries were more likely to be associated with orbital floor fractures (p< 0.001). The sensory changes associated with orbital floor and zygomaticomaxillary fractures were not significantly different (p= 0.773). Sensory recovery was more rapid and better after orbital floor than after zygomaticomaxillary fractures; however, the difference was not significantly different. Additionally, the low-energy group showed a higher incidence of sensory changes than the high-energy group, but the difference was not statistically significant (p= 0.512). Permanent sensory changes were more frequent in the high-energy group, the difference was statistically significant (p= 0.043). Conclusion: The study found no significant difference in the incidence of sensory changes associated with orbital floor and zygomaticomaxillary fractures. In case of orbital floor fractures and high-energy injuries, the risk of permanent sensory impairment should be considered.

• 대한두개안면성형외과학회지
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• 제24권3호
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• pp.117-123
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• 2023

Background: Midfacial fractures frequently involve the maxillary sinus, leading to maxillary sinus pathology. We aimed to examine the incidence and contributing factors of maxillary sinus pathology in patients who underwent open reduction and internal fixation (ORIF) for midfacial fractures. Methods: A retrospective analysis was conducted on patients who underwent ORIF for midfacial fractures at our department over the past 10 years. The incidence of maxillary sinus pathology was identified clinically and/or by computed tomography findings. Factors that significantly influenced the groups with and without maxillary sinus pathology were examined. Results: The incidence of maxillary sinus pathology in patients who underwent ORIF for midfacial fractures was found to be 11.27%, with sinusitis being the most common pathology. Maxillary sinus pathology was significantly associated with the presence of a blowout fracture involving both the medial and the inferior orbital walls. Factors such as sex, age, diabetes mellitus, hypertension, smoking, inflammatory disease, follow-up period, use of absorbable plates, and use of titanium plates did not have a significant impact on the development of maxillary sinus pathology. Conclusion: The incidence of maxillary sinus pathology in patients who underwent ORIF for midfacial fractures was relatively low, and in most cases, it resolved without the need for specific treatment. Consequently, there may not be a significant need for concern regarding postoperative maxillary sinus pathology.

• 대한두개안면성형외과학회지
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• 제24권5호
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• pp.218-222
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• 2023

Background: Botulinum toxin is a neurotoxic substance with a wide range of uses, from the treatment of musculoskeletal spasms to anti-aging regimens by improving wrinkles. Split-face studies in which drugs are injected in the right and left sides of the faces have been actively conducted in botulinum toxin studies. In this study, we aimed to investigate the reliability of a split-face study for determining the effectiveness of botulinum toxin based on eyebrow height and movement, and electromyography results. Methods: Thirty-one women aged 35 to 55 years were included in the study. Eyebrow height was measured as the distance from the eyebrows to the upper eyelid margin on the primary gaze, and eyebrow movement was measured as the distance when the forehead was wrinkled for 5 seconds. A noninvasive method was used for electromyography of the frontalis muscles. Results: No statistically significant differences in right and left eyebrow heights and movements, and electromyography findings (p= 0.256, p= 1.000, and p= 0.978, respectively) were found. Pearson correlation analysis showed that electromyography muscle activity is positively associated with eyebrow movement, respectively (p< 0.001). Conclusion: We advocate the reliability of split-face study and the usefulness of electromyography of frontalis muscle in forehead rejuvenation research.

• 대한두개안면성형외과학회지
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• 제24권5호
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• pp.211-217
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• 2023

Background: Oral cavity cancers, the second most common type in India, are responsible for 10% of the overall cancer burden. With a recurrence rate of 30% to 40% and a 5-year survival rate of 50%, these malignancies account for substantial morbidity and mortality. Despite advances in treatment modalities, survival rates following treatment completion have not improved significantly. The present study aimed to establish specific epidemiological and pathological factors responsible for recurrence after treatment completion in buccal mucosa cancers. Methods: A retrospective analysis of the data of 116 patients treated for biopsy-proven cancers of the buccal mucosa was undertaken 1 year after treatment completion. Factors such as age, sex, education, lymphovascular invasion, extranodal extension (ENE), perineural invasion, depth of invasion, and pathological margin status were compared between patients who presented with recurrence and those who did not. Statistical significance was set at p< 0.05. Results: Of the 116 patients, 40 (34.5%) developed a recurrent disease within 1 year. The mean age of the study population was 43.3 years, and males constituted 91.4% of the included patients. Ipsilateral buccal mucosa was the commonest site of disease recurrence. Neck node metastasis, ENE, and margins of resection < 5 mm were significantly related to the recurrence of disease. However, surprisingly, lymphovascular invasion, perineural invasion, and depth of invasion > 10 mm did not show statistically significant associations. Conclusion: Neck node metastasis, ENE, and margins of resection < 5 mm were the histopathological factors associated with recurrence in cancers of the buccal mucosa.

• 대한두개안면성형외과학회지
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• 제25권3호
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• pp.133-140
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• 2024

Background: The medial canthal region features a complex three-dimensional and internal anatomical structure. When reconstructing a defect in this area, it is crucial to consider both functional and aesthetic aspects, which presents significant challenges. Generally, local flaps are preferred for reconstruction; however, skin grafts can be used when local flaps are not feasible. Therefore, we conducted a comparative analysis of surgical outcomes skin grafts when local flaps were not feasible, to determine which surgical method is more effective for medial canthal region reconstruction. Methods: Twenty-five patients who underwent medial canthal region reconstruction using skin grafts or local flaps from 2002 to 2021 were enrolled. Patient information was obtained from medical records. Five plastic surgeons evaluated the surgical outcomes based on general appearance, color, contour, and symmetry. Results: Skin grafts were used in eight patients and local flaps were used in 13. Combined reconstructions were employed in four cases. Minor complications arose in four cases but improved with conservative treatment. No major complications were reported. Recurrence of the skin cancer was noted in two cases. All categories showed higher scores for the local flap compared to both skin graft and combined reconstruction; however, the differences were not statistically significant respectively. Conclusion: The choice of appropriate surgical methods for reconstructing defects in the medial canthal region depends on various factors, including the patient's overall health, the size and depth of the defect, and the degree of involvement of surrounding structures. When a local flap is not feasible, a skin graft may provide favorable surgical outcomes. Therefore, a skin graft can serve as a viable alternative for reconstructing the medial canthal region.

• 대한두개안면성형외과학회지
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• 제25권4호
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• pp.161-170
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• 2024

Background: The eyes are the central aesthetic unit of the face. Maxillofacial trauma can alter facial proportions and affect visual function with varying degrees of severity. Conventional approaches to reconstruction have numerous limitations, making the process challenging. The primary objective of this study was to evaluate the application of three-dimensional (3D) navigation in complex unilateral orbital reconstruction. Methods: A prospective cohort study was conducted over 19 months (January 2020 to July 2021), with consecutive enrollment of 12 patients who met the inclusion criteria. Each patient was followed for a minimum period of 6 months. The principal investigator carried out a comparative analysis of several factors, including fracture morphology, orbital volume, globe projection, diplopia, facial morphic changes, lid retraction, and infraorbital nerve hypoesthesia. Results: Nine patients had impure orbital fractures, while the remainder had pure fractures. The median orbital volume on the normal side (30.12 cm³; interquartile range [IQR], 28.45-30.64) was comparable to that of the reconstructed orbit (29.67 cm³; IQR, 27.92-31.52). Diplopia improved significantly (T(10)= 2.667, p= 0.02), although there was no statistically significant improvement in globe projection. Gross symmetry of facial landmarks was achieved, with comparable facial width-to-height ratio and palpebral fissure lengths. Two patients reported infraorbital hypoesthesia at presentation, which persisted at the 6-month follow-up. Additionally, five patients developed lower lid retraction (1-2 mm), and one experienced implant impingement at the infraorbital border. Conclusion: Our study provides level II evidence supporting the use of 3D navigation to improve surgical outcomes in complex orbital reconstruction.

• Journal of Yeungnam Medical Science
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• 제7권2호
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• pp.131-139
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• 1990

저자는 치열교정 및 악교정 술식에 있어서 증례분석 및 진단에 활용하고자 Ricketts의 10 factor analysis 및 7 internal structure를 합해 도합 17개 항목으로 한국 성인 정상 교합자의 안모형태의 특징 및 기준치를 분석하여 치열 및 악안면 조화의 관계를 연구하였는데, 연구대상으로는 21세 이상의 한국 성인 정상 교합자 중 남자 30명, 여자 30명 합계 60명올 대상으로 연구하여 성인 남녀별 각 계측 항목의 평균치, 표준편차를 산출하고, 남녀별 유의성 검정을 시행하였다.

• Journal of Chest Surgery
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• 제37권3호
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• pp.267-271
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• 2004

안면다한증의 치료를 위해 교감신경 절제 혹은 클립 차단술이 널리 이용되고 있으나 보상성 다한증의 발생을 충분히 줄이지는 못하였다. 보상성 다한증을 줄이기 위해서는 교감신경 줄기를 보존하는 술식이 필요하다. 연세대학교 의과대학 영동세브란스병원 흉부외과에서는 2000년 1월부터 2002년 7월까지 안면 다한증 환자를 대상으로 시행한 T2 symphatectic clipping 22예(group 1)와 T2 ramicotomy 14예(group 2)를 대상으로 수술의 만족도, 얼굴의 건조도, 보상성 다한증 발생 유무, 보상성 다한증 정도 등을 후향적으로 비교 분석하였다. 얼굴의 건조 정도는 group 1에서 dry가 5예(22.7%), humid가 17예(77.3%), persist는 없었으며 group 2에서 dry가 2예(14.3%), humid가 11예(78.5%), persist 1예(7.2%) 있었다.(p=0.389). 수술 후 만족은 group 1이 17예(77.3%), group가 9예(64.2%)로 group 1이 group 2에 비해 만족도가 높았지만 통계적으로는 유의한 차이를 보이지 않았다(p=0.396). 보상성 다한증의 발생률은 group 1이 각각 21예(95.4%)로 group 2의 10예(71.4%)에 비해 보상성 다한증 발생률이 높았다(p=0.042). 보상성 다한증의 정도는 group 1에서 grade 1은 1예(4.5%), grade 2는 4예(18.2%), grade 3은 8예(36.4%), grade 4는 9예(40.1%)로 group 2에서 grade 1은 3예(21.4%), grade 2는 5예(35.7%), grade 3은 5예(35.7%), grade 4는 1예(7.2%)로 group 2에서 grade 3, 4의 보상성 다한증에 의해 생활의 불편함이 있는 환자가 적음을 알 수 있었다.(p=0.036). 제 2 흉부교감신경 클립 차단과 제 2 흉부교감신경 교통지 절제 후의 보상성 다한증 발생을 비교한 결과 교통가지 절제술에서 보상성 다한증 발생의 유의한 감소를 보여 보상성 다한증을 감소시키기 위해서는 교통가지 절제술이 우수함을 알 수 있었다.