• Maxillofacial Plastic and Reconstructive Surgery
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• 제30권2호
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• pp.205-212
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• 2008

인간 게놈의 DNA서열의 차이는 개개인의 특이성을 의미하기 때문에 염기서열의 변화는 질병에 대한 감수성, 약물에 대한 반응 등 개인의 성향에 큰 영향을 미치게 된다. 인간 게놈에는 여러 가지 형태의 유전적 변이가 존재하지만 그 중 단일염기다형성이 인간의 유전적, 표현형의 다양성을 설명하는 주된 유전적 변이로 생각되었으나 최근 유전체 전체 분석법의 발전으로 1 kb 이상 크기의 CNV의 발견으로 개체간의 유전적 다양성에 대한 더 많은 이해가 가능하게 되었고, 진화와 유전 질환에 대한 CNV의 역할을 조사하는 연구의 기초를 제공하게 되었다. 현재 인간게놈의 CNV를 찾아내고 특성화 작업을 목표로 하는 The Copy Number Variation Project를 위해 The Wellcome Trust Institute (Hinxton, United Kingdom), Hospital for Sick Children (Toronto), University of Tokyo (Tokyo), Affymetrix (Santa Clara, CA), 그리고 Harvard Medical School/Brigham and Women's Hospital (Boston, MA) 등이 참여하는 international consortium이 구성되어 보다 심도 있는 연구가 진행되고, 또한 향후 진보된 DNA microarray-based technology와 서열화 기술의 개발로 인간 게놈 상의 모든 유전적 변이를 발견하게 되고 포괄적인 CNV 지도를 완성하고 인간 유전자 다양성 인간의 진화, 유전적 질환 개인 맞춤형 의학에 대한 새로운 이해와 연구가 가능하게 될 것으로 기대된다.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제40권
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• pp.40.1-40.8
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• 2018

Background: A 9-year-old male showed severe defects in midface structures, which resulted in maxillary hypoplasia, ocular hypertelorism, relative mandibular prognathism, and syndactyly. He had been diagnosed as having Apert syndrome and received a surgery of frontal calvaria distraction osteotomy to treat the steep forehead at 6 months old, and a surgery of digital separation to treat severe syndactyly of both hands at 6 years old. Nevertheless, he still showed a turribrachycephalic cranial profile with proptosis, a horizontal groove above supraorbital ridge, and a short nose with bulbous tip. Methods: Fundamental aberrant growth may be associated with the cranial base structure in radiological observation. Results: The Apert syndrome patient had a shorter and thinner nasal septum in panthomogram, PA view, and Waters' view; shorter zygomatico-maxillary width (83.5 mm) in Waters' view; shorter length between the sella and nasion (63.7 mm) on cephalogram; and bigger zygomatic axis angle of the cranial base (118.2°) in basal cranial view than a normal 9-year-old male (94.8 mm, 72.5 mm, 98.1°, respectively). On the other hand, the Apert syndrome patient showed interdigitating calcification of coronal suture similar to that of a normal 30-year-old male in a skull PA view. Conclusion: Taken together, the Apert syndrome patient, 9 years old, showed retarded growth of the anterior cranial base affecting severe midface hypoplasia, which resulted in a hypoplastic nasal septum axis, retruded zygomatic axes, and retarded growth of the maxilla and palate even after frontal calvaria distraction osteotomy 8 years ago. Therefore, it was suggested that the severe midface hypoplasia and dysostotic facial profile of the present Apert syndrome case are closely relevant to the aberrant growth of the anterior cranial base supporting the whole oro-facial and forebrain development.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제21권2호
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• pp.89-109
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• 1999

Vascular spasm which has been reported to occur in 25% of clinical cases continues to be a problem in microvascular surgery; When prolonged and not corrected, it can lead to low flow, thrombosis, and replant or free flap failure. Ischemia, intimal damage, acidosis and hypovolemia have been implicated as contributors to the vascular spasm. Although much work has been done on the etiology and prevention of vasospasm, a spasmolytic agent capable of firmly protecting against or reversing vasospasm has not been found. Therefore vascular freezing was introduced as a new safe method that immediately and permanently relieves the vasospasm and can be applied to microsurgical transfers. Cryosurgery can be defined as the deliberate destruction of diseased tissue or relief the vascular spasm in microvascular surgery by freezing in a controlled manner. 96 Sprague Dawley rats each weighing within 250g were used and divided into 2 group, experimental 1 and 2 group. In the experimental 1 group, right epigastric vessels (artery and vein) were freezed with a cryoprobe using $N_2O$ gas for 1 min. In the experimental 2 group, after freezing for 1 min, thawing for 30 secs and repeat freezing for 30 secs. Left side was chosen as control group in both group. We sacrified the experimental animals by 1 day, 3 days, 1 week, 2 weeks, 4 weeks & 5 months and observed the sequential change that occur during regeneration of epigastric vessels using a histologic, histomorphometric, immunohistochemical and SEM study after the vascular freezing. The results were as follows1. In epigastric arteries, internal diameters had statistically significant enlargement in 1 day, 3 days of Exp-1 group and 1 day, 3 days, 1 week & 2 weeks of Exp-2 group. Wall thickness had statistically significant thinning in 2 weeks of Exp-2 group. 2. In epigastric veins, internal diameters had enlargement of statistical significance in 1 day of Exp-1 and Exp-2 group. 3. The positive PCNA reactions in smooth muscle appeared in 1 week and increased until 2 weeks, decreased in 4 weeks. There was no statistical significance between Exp-1 and Exp-2 group. 4. The positive ${\alpha}$-SMA reaction in smooth muscles showed weak responses until 1 week and slowly increased in 2 weeks and showed almost control level in 4 weeks. 5. The positive S-100 reactions in the perivascular nerve bundles showed markedly decrease in 1 day, 3 days and increased after 1 week and showed almost control level in 4 weeks. Exp-1 group had stronger response than Exp-2 group. 6. In SEM, we observed defoliation of endothelial cell and flattening of vessel wall. Exp-2 group is more destroyed and healing was slower than Exp-1 group. To sum up, relief of vasospasm (vasodilatation) by freezing with cryoprobe was originated from the damage of smooth muscle layer and perivascular nerve bundle and the enlargement of internal diameter in vessels was similar to expeimental groups, but Exp-2 group had slower healing course and therefore vessel freezing in microsurgery can be clinically used, but repeat freezing time needs to be studied further.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제23권4호
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• pp.295-305
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• 2001

구강은 흡연이나 음주와 같은 화학적 발암물질이 쉽게 접촉할 수 있는 화학적 발암물질의 표적장기이며 구강암을 포함한 대부분의 암 발생의 근원이 되는 세포는 상피세포이다. 따라서 본 연구는 인체상피세포를 화학적 발암물질인 MNING에 노출시켜 발암화를 유도하고 이에 따른 작용 기전을 분석함으로써 구강암과 같은 상피세포 기원의 종양 발생기전을 이해하는 데 기여하고자 하였다. 인체 상피세포에 $0.001{\mu}g/ml$에서 $1{\mu}g/ml$ 용량의 MNNG를 투여한 결과 용량 의존적인 세포발암성을 나타내었으며 $0.01{\mu}g/ml$ 투여군이 가장 높은 암세포의 지표를 보였다. MNNG투여후 TPA를 처리한 결과 발암세포의 지표인 saturation density, soft agar colony formation, cell aggregation 등에서 MNNG의 단독 투여시보다 높은 발암성을 나타내었으며 최초의 foci출현시기도 단축되었다. 이와같은 결과는 Phorbol ester binding assay에서도 나타나 세포 발암화 촉진에 PKC활성이 관여함을 추정할 수 있다. PKC translocation 현상은 세포외 칼슘이 있을 경우에만 나타나 MNNG에 의한 PKC활성에 classical PKC가 관여함을 추정할 수 있었다. MNNG에 대한 초기반응으로 cPKC의 경우 $PKC-{\alpha}$와 $PKC-{\gamma}$가 고농도에서 활성의 증가를 보였으며 nPKC의 경우 $PKC-{\varepsilon}$가 뚜렷한 활성을 보여 이들 isoform이 MNNG에 의한 발암화 초기단계에 관여함을 암시하였다. 반면 aPKC는 어느 형태도 MNNG에 반응하지 않아 화학적 발암화 과정에 isoform의 특이성이 존재함을 입증하였다. MNNG에 의해 발암화 특성을 나타낸 세포는 $PKC-{\alpha}$ 및 $PKC-{\gamma}$의 지속적인 활성증가를 나타내어 발암의 초기단계부터 지속적이 활성을 유지하고 있는 isoform으로 추정된다. 본 연구결과 인체상피 세포의 모든 PKC isoform에 대한 발현을 분석하고 화학적 발암화에 관여하는 isoform을 선별해냄으로써 특정한 inhibitor 등을 상요한 발암화 억제제의 개발에 필요한 기초자료를 제공하였을 뿐만 아니라 구강암과 같은 상피세포 기원의 암발생 기전을 이해하는 데 기여할 것으로 사료된다.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제22권2호
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• pp.164-173
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• 2000

The p16 protein is a cyclin dependent kinase inhibitor that inhibits cell cycle progression from $G_1$ phase to S phase in cell cycle. Many p16 gene mutations have been noted in many cancer-cell lines and in some primary cancers, and alterations of p16 gene function by DNA methylation have been noticed in various kinds of cancer tissues and cell-lines. There have been a large body of literature has accumulated indicating that abnormal patterns of DNA methylation (both hypomethylation and hypermethylation) occur in a wide variety of human neoplasma and that these aberrations of DNA methylation may play an important epigenetic role in the development and progression of neoplasia. DNA methylation is a part of the inheritable epigenetic system that influences expression or silencing of genes necessary for normal differentiation and proliferation. Gene activity may be silenced by methylation of up steream regulatory regions. Reactivation is associated with demethylation. Although evidence or a high incidence of p16 alterations in a variety of cell lines and primary tumors has been reported, that has been contested by other investigators. The precise mechanisms by which abnormal methylation might contribute to carcinogenesis are still not fully elucidated, but conceivably could involve the modulation of oncogene and other important regulatory gene expression, in addition to creating areas of genetic instability, thus predisposing to mutational events causing neoplasia. There have been many variable results of studies of head and neck squamous cell carcinoma(HNSCC). This investigation was studied on 13 primary HNSCC for p16 gene status by protein expression in immunohistochemistry, and DNA genetic/epigenetic analyzed to determine the incidence, the mechanisms, and the potential biological significance of its Inactivation. As methylation detection method of p16 gene, the methylation specific PCR(MSP) is sensitive and specific for methylation of any block of CpG sites in a CpG islands using bisulfite-modified DNA. The genomic DNA is modified by treatment with sodium bisulfate, which converts all unmethylated cytosines to uracil(thymidine). The primers designed for MSP were chosen for regions containing frequent cytosines (to distinguish unmodified from modified DNA), and CpG pairs near the 5' end of the primers (to provide maximal discrimination in the PCR between methylated and unmethylated DNA). The two strands of DNA are no longer complementary after bisulfite treatment, primers can be designed for either modified strand. In this study, 13 paraffin embedded block tissues were used, so the fragment of DNA to be amplified was intentionally small, to allow the assessment of methylation pattern in a limited region and to facilitate the application of this technique to samlples. In this 13 primary HNSCC tissues, there was no methylation of p16 promoter gene (detected by MSP and automatic sequencing). The p16 protein-specific immunohistochemical staining was performed on 13 paraffin embedded primary HNSCC tissue samples. Twelve cases among the 13 showed altered expression of p16 proteins (negative expression). In this study, The author suggested that low expression of p16 protein may play an important role in human HNSCC, and this study suggested that many kinds of genetic mechanisms including DNA methylation may play the role in carcinogenesis.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제33권1호
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• pp.26-31
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• 2011

Purpose: Chronic inflammatory gingival lesions occur as pyogenic granulomas or non-specific chronic suppurative lesions. Methods: Of the 59 chronic inflammatory gingival lesions examined, plasma cell granuloma (n=14), which showed an intense antibody-mediated immune reaction with the increased infiltration of plasma cells, was observed as a pseudotumor-like gingival overgrowth and myofibroblastic or fibrohistiocytitc proliferation of stromal cells with a heavy collection of plasma cells. The levels of CD3, CD20, CD31, CD68, RANKL, cathepsin G, cathepsin K, lysozyme, TNF${\alpha}$, MMP-2, and MMP-9 in the 14 cases of gingival plasma cell granuloma with immunohistochemical detection were measured to determine the pathogenetic progresses of the plasma cell granuloma compared to the common pyogenic granuloma (n=45) in the gingiva. Results: The gingival lesions of the plasma cell granuloma could be divided into three histological types, plasma cell predominant type (PPT, n=8), mixed inflammatory cell type (MICT, n=2), and sclerosed fibrosis type (SFT, n=4). The PPT showed a condensed infiltration of plasma cells into the perivascular spaces of the granulomatous lesion with frequent formation of Russel's body in their cytoplasm. The MICT showed the concomitant infiltration of many macrophages together with plasma cells, resulting in the diffuse destruction of stromal fibrous tissue. The SFT showed granulomatous lesions replaced gradually by thick collagenous fibrous tissue, resembling an inflammatory pseudotumor. The SFT expressed strongly the lymphocytic markers, CD3 and CD20, and the macrophage/monocyte markers, CD31 and CD68, but showed reduced expression of common inflammatory markers, TNF${\alpha}$, cathepsin G, lysozyme, MMP-2, and MMP-9, as well as the reduced expression of osteoclastogenic markers, RANKL and cathepsin K. Conclusion: These results suggest that a gingival plasma cell granuloma shows variable gene expression for cell-mediated immunity and stromal tissue degeneration, undergoing sclerotic fibrosis with a persistent inflammatory reaction.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제20권3호
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• pp.246-249
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• 1998

본 증례는 우측 하악 후구치부위에 생긴 편평상피세포암종의 절제후 생긴 결손부를 미세혈관수술을 이용한 유리전완피부피판으로 재건한 증례로서 병소가 발생한 해부학적 위치 및 절제 후 생긴 결손부의 크기를 고려할 때, 전완피부피판을 이용하여 재건하였으며 현재까지 양호한 결과를 보이고 있다. 이와 같이 전완피부피판은 특성을 잘 이용하는 적절한 적응증에 사용된다면 어떤 다른 재건방법 보다도 성공적인 결과를 가져올 수 있으며 특히 구강악안면영역의 재건에서 그 효용성이 크다고 할 수 있다.

• 대한구순구개열학회지
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• 제10권1호
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• pp.39-56
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• 2007

The bilateral cleft lip, a more severe form of clefting than unilateral cleft lip, involves separation of the lip along philtral lines, isolating the central segment (prolabium). Bilateral cleft lip may be either symmetrical or asymmetrical, in which case the cleft lip is split more on one side than on the other. The cleft affects the obvious facial form as an anatomic deformity and has functional consequences, affecting the child's ability to eat, speak, hear, and breathe. Although there would seem to be quite a variance in reported figures, ratios of cleft lip with or without cleft palate have gone as high as 1:500 and as low as 1:1000. It is known that less than 10% of cleft lips are bilateral. Although bilateral cleft lip is less common than unilateral cleft lip, the deformity is more severe, and the reconstructive technique is more complex. Surgery is the only treatment necessary for patients with bilateral cleft lip. Accompanying the evolution of surgical repair is the increasingly important role of orthodontic support with early presurgical alveolar and nasal molding. Repositioning the maxillary and alveolar segments into a more anatomic position allows the surgeon to repair the lip and associated nasal deformity under more optimal conditions. The purpose of this article is to review the related anatomy, presurgical management, and surgical management of bilateral cleft lip.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제22권1호
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• pp.15-21
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• 2000

저자는 국소적 재발율에 있어서 큰 차이를 보이는 두 치성종양중 대표적인 함치성 낭종과 법랑아세포종에 있어서 apoptosis 관련 단백(p53, bcl-2, bax)의 발현 양상을 관찰하기 위하여 10례의 함치성 낭종과 16례의 법랑아세포종에 대하여 면역조직화학적 연구를 실시하여 다음과 같은 결론을 얻었다. 1. p53은 함치성 낭종보다 법랑아세포종에서 강하게 발현되었고 법랑아세포종의 조직학적 분류에 따른 p53 발현의 차이를 관찰할 수 없었으며 함치성 낭종의 경우에는 p53이 거의 basal layer에서 발현되었다. 2. Bcl-2는 함치성 낭종의 경우 주로 기저층 혹은 전층에서 발현되었고 법랑아세포종에서는 바깥층 혹은 전층에서 발현되었는데 특히 종양 실질조직중 입방형 또는 주상형 세포층에 집중되어 염색되었다. 3. Bax는 함치성 낭종의 경우 법랑아세포종에 비하여 보다 강하게 발현되었고 함치성 낭종과 법랑아세포종간에 발현양상의 차이는 관찰할 수 없었다. 함치성 낭종 및 법랑아세포종에 있어서 apoptosis 관련단백의 발현양상에 관한 이러한 차이가 법랑아세포종의 독특한 공격적 성장양상과 연관이 있으리라 사료된다.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제20권3호
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• pp.256-262
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• 1998

치조열 환자의 골이식과 관련된 치료계획 수립과 골이식재, 골이식 시기, 교정치료 시기 등 치료방법의 선택에 도움을 주는 자료로 삼고자, 1992년 1월부터 1996년 12월까지 전남대학교병원 구강악안면외과에서 골이식술을 시행한 치조열 환자중 추적검사가 가능한 31명을 대상으로 골이식술과 관련된 여러 가지 항목들과 술후 치조열부의 변연골 높이에 대하여 조사한 결과는 다음과 같다. 성별 분포는 남성(64.5%)이 여성(35.5%)보다 많았고, 남녀성비는 1.8 : 1이었다. 골이식시 연령은 이차 골이식기에 해당하는 6세에서 16세 사이(58.1%)가 많았고, 연령의 범위는 2세부터 33세까지였으며 평균연령은 11세였다. 치조열의 분류에 따른 분포는 편측성(93.5%)이 대부분이었고 그중 좌측(74.2%)이 많았다. 결손치로는 측절치가 많았고 과잉치는 측절치와 견치 사이에서 많이 관찰되었다. 술전 교합상태는 III급 부정교합 및 전치부 교차교합(65.1%)이 가장 많았고, 교정치료는 술전과 술후에 비슷하게 시행되었다. 골이식시 동시 시행한 수술로는 이차 구순수 정술이 가장 많았고, 술후 합병증으로는 골결손이 6례, 구비루가 1례, 열개가 3례 발생되었다. 골이식재로는 PMCB와 DFDB가 사용되었고 술후 변연골의 높이는 PMCB를 이식한 경우에 DFDB를 이식한 경우보다 높았으며, PMCB를 이식한 경우에는 변연골의 높이가 증가되었으나 DFDB에서는 변화가 없었다.