• Title/Summary/Keyword: cleft lip

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Genetic Variant in CLPTM1L Confers Reduced Risk of Lung Cancer: a Replication Study in Chinese and a Meta-analysis

  • Luo, Xia;Lamsal, Laxmi Pangeni;Xu, Wen-Juan;Lu, Jie;Lu, Yan-Jun;Shen, Ying;Guan, Qing
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.21
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    • pp.9241-9247
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    • 2014
  • Background: Rs31489 in the cleft lip and palate transmembrane1-like gene (CLPTM1L) has been identified to be associated with lung cancer through genome-wide association studies (GWAS). However, some recent replication studies yielded inconclusive results. Thus, we undertook this study to investigate the precise effect of rs31489 on lung cancer susceptibility. Materials and Methods: A hospital-based case-control study in 1,673 Chinese subjects (611 individuals with lung cancer and 1,062 controls) and a meta-analysis among 32,199 subjects (16,364 cases and 15,835 controls) were performed in this study. Results: In our case-control study, rs31489 was inversely associated with lung cancer (AC versus CC: OR=0.68, 95%CI=0.52-0.88; additive model: OR=0.68, 95%CI=0.54-0.85; dominant model: OR=0.65, 95%CI =0.51-0.84). Stratification analysis by smoking status showed a significant association and strong genetic effect in non-smokers but not in smokers. Our meta-analysis further confirmed the association, although with significant heterogeneity contributed by study design and source of controls, as shown by stratified analysis. Sensitive and cumulative analyses both indicated robust stability of our results. In addition, there was no observable publication bias in our meta-analysis. Conclusions: Overall, the findings from our replication study and meta-analysis demonstrated that CLPTM1L gene rs31489 is significantly associated with lung cancer.

No Association of XRCC1 and CLPTM1L Polymorphisms with Non-small Cell Lung Cancer in a Non-Smoking Han Chinese Population

  • Sun, Yan;Zhang, Yong-Jun;Kong, Xiang-Ming
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.9
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    • pp.5171-5174
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    • 2013
  • Background: This study aimed to explore potential associations between single nucleotide polymorphisms (SNPs) of the x-ray repair cross-complementing group 1 (XRCC1) and cleft lip and palate transmembrane protein 1-like (CLPTM1L) and non-small cell lung cancer (NSCLC) susceptibility in non-smoker Chinese patients. Methods: A total of 200 NSCLC patients and 200 healthy controls with matched age and gender were recruited for genotyping of XRCC1 SNPs (rs2256507 and rs1001581) and CLPTM1L SNPs (rs401681 and rs4975616). Association of these SNPs with NSCLC risk was evaluated by computing the odds ratio (OR) and 95% confidence interval (CI) from multivariate unconditional logistic regression analyses with adjustment for gender and age. Results: The frequencies of genotype and allele in these four loci (rs2256507, rs1001581, rs401681, and rs4975616) were not significantly different between the cases and controls, or between either of the histological subgroups (adenocarcinoma and squamous cell carcinoma) and controls. Conclusions: Although these SNPs are associated with NSCLC risk in patients with a tobacco-smoking habit, this study demonstrated that XRCC1 and CLPTM1L gene SPNs are not linked with NSCLC risk in non-smoking patients, indicating that molecular mechanisms of NSCLC betwee tobacco smokers and non-smokers may be different. Future studies are needed to uncover the underlying molecular mechanisms for NSCLC in non-smokers.

MANDIBULAR EXPANSION IN A CONGENITAL AGLOSSIA PATIENT (선천적 무설증 환자에서의 하악골 확장)

  • Cho, Jae-Yong;Kim, Jung-Wook;Jang, Ki-Taeg;Kim, Chong-Chul;Hahn, Se-Hyun;Lee, Sang-Hoon
    • Journal of the korean academy of Pediatric Dentistry
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    • v.30 no.4
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    • pp.673-677
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    • 2003
  • Congenital aglossia is a very rare condition. The oral manifestations of an aglossia include micrognathia, high arched or cleft palate, defects of the lower lip, an absence of lateral incisors and a mandibular growth deficiency. Although the etiology of congenital aglossia is unclear, both genetic and teratogenic mechanisms have been proposed. Treatment of aglossia patients depends on the nature and severity of the condition which includes surgical rehabilitation of the tongue tip to some extent, orthopedic expansion of the mandible to guide mandibular growth, and mandibular expansion by a distraction osteogenesis. In the present case, a 6 year old female aglossia patient with situs inversus was treated. A bonded hyrax screw was used to increase her mandibular primary intercanine width and intermolar width. A second phase orthodontic and surgical treatment will be possible after some retention phase.

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Dual Plane Augmentation Genioplasty Using Gore-Tex Chin Implants

  • Kim, Byung Jun;Lim, Jong Woo;Park, Ji Hoon;Lee, Yoon Ho
    • Archives of Craniofacial Surgery
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    • v.15 no.2
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    • pp.82-88
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    • 2014
  • Background: The chin shape and position is important in determining the general shape of the face, and augmentation genioplasty is performed alone or in combination with other aesthetic procedures. However, augmentation genioplasty using osteotomy is an invasive and complex procedure with the potential to damage mentalis muscle and mental nerve, to affect chin growth, and prolonged recovery. Our aim was to present our experience with a modified augmentation genioplasty procedure for hypoplastic chins using a Gore-Tex implant. Methods: Two vertical slit incisions were made at the canine level to create a supra-periosteal pocket between the incisions, preserving the periosteum and mentalis muscle. Minimal sub-periosteal dissection was performed lateral to the incisions along the mandibular border. The both wings of implant were inserted under the periosteum to achieve a stable dual plane implantation. Results: In total, 47 patients underwent dual plane chin augmentation using a Gore- Tex implant between January 2008 and May 2013. The mean age at operation was 25.77 years (range, 15-55 years). There were 3 cases of infection; one patient was treated with antibiotics, the others underwent implant removal. Additionally, two patients complained of postoperative parasthesia that spontaneously improved without any additional treatment. Most patients were satisfied with the postoperative outcomes, and no chin growth problems were observed among the younger patients. Conclusion: Dual plane Gore-Tex chin augmentation is a minimally-invasive operation that is simple and safe. All implants yielded satisfactory results with no significant complications such as mental nerve injury, lower lip incompetence, or chin growth limitation.

The Change of Bone and Soft Tissue Profile after Sagittal Split Osteotomy of Ramus (하악골후방이동술 후 골격구조와 연부조직의 변화)

  • Hwang, Jee Hoon;Seul, Chul Hwan;Park, Beyoung Yun
    • Archives of Plastic Surgery
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    • v.32 no.5
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    • pp.547-554
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    • 2005
  • Orthognathic surgery for Class III malocclusion requires an elaborate preoperative planning using cephalometries or Mock surgery models which enable the surgeon to anticipate postoperative skeletal changes of maxilla and mandible as well as dentition. After surgery, patient's satisfaction is greatly influenced by appearance of soft tissue change. Therefore, it is imperative to predict a relatively accurate soft tissue change prior to surgery. A 5 year retrospective study was designed to evaluate the soft tissue change after sagittal split osteotomy of ramus(SSRO) for class III malocclusion. Analyses of preoperative and postoperative anthropometric measurements were performed. Patients who were treated only by SSRO for class III malocclusion and could follow up for 6 months were studied. Among them, the patients who had history of cleft palate and lip or hemifacial microsomia were excluded. Soft tissue changes were estimated by using the frontal and lateral photographs. Skeletal changes were observed by measuring amount of set back and angular changes of mandible to the reference line by using cephalometries. Relapses were also measured 6 months after the operation. We could observe skeletal changes were more profound than soft tissue changes concerning amount of set back, but soft tissue changes were also profound in angle. Relapse was more profound in skeleton than soft tissue but the amount was not significant. In spite of the variables which may affect proper assessment of the soft tissue change after skeletal relocation, this study can serve as a guide for exact prediction of the postoperative change of soft tissue and skeleton.

A New Facial Composite Flap Model (Panorama Facial Flap) with Sensory and Motor Nerve from Cadaver Study for Facial Transplantation (얼굴이식을 위한 운동과 감각신경을 가진 중하안면피판 모델(파노라마 얼굴피판)에 대한 연구)

  • Kim, Peter Chan Woo;Do, Eon Rok;Kim, Hong Tae
    • Archives of Craniofacial Surgery
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    • v.12 no.2
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    • pp.86-92
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    • 2011
  • Purpose: The purpose of this study was to investigate the possibility that a dynamic facial composite flap with sensory and motor nerves could be made available from donor facial composite tissue. Methods: The faces of 3 human cadavers were dissected. The authors studied the donor faces to assess which facial composite model would be most practicable. A "panorama facial flap" was excised from each facial skeleton with circumferential incision of the oral mucosa, lower conjunctiva and endonasal mucosa. In addition, the authors measured the available length of the arterial and venous pedicles, and the sensory nerves. In the recipient, the authors evaluated the time required to anastomose the vessels and nerve coaptations, anchor stitches for donor flaps, and skin stitches for closure. Results: In the panorama facial flap, the available anastomosing vessels were the facial artery and vein. The sensory nerves that required anastomoses were the infraorbital nerve and inferior alveolar nerve. The motor nerve requiring anstomoses was the facial nerve. The vascular pedicle of the panorama facial flap is the facial artery and vein. The longest length was 78 mm and 48 mm respectively. Sensation of the donor facial composite is supplied by the infraorbital nerve and inferior alveolar nerve. Motion of the facial composite is supplied by the facial nerve. Some branches of the facial nerve can be anastomosed, if necessary. Conclusion: The most practical facial composite flap would be a mid and lower face flap, and we proposed a panorama facial flap that is designed to incorporate the mid and lower facial skin with and the unique tissue of the lip. The panorama facial composite flap could be considered as one of the practicable basic models for facial allotransplantation.

Surgical management of palatal teratoma (epignathus) with the use of virtual reconstruction and 3D models: a case report and literature review

  • Gonzalez-Cantu, Cynthia Minerva;Moreno-Pena, Pablo Juan;Salazar-Lara, Mayela Guadalupe;Garcia, Pablo Patricio Flores;Montes-Tapia, Fernando Felix;Cervantes-Kardasch, Victor Hugo;Castro-Govea, Yanko
    • Archives of Plastic Surgery
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    • v.48 no.5
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    • pp.518-523
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    • 2021
  • Epignathus is a rare congenital orofacial teratoma that arises from the sphenoid region of the palate or the pharynx. It occurs in approximately 1:35,000 to 1:200,000 live births representing 2% to 9% of all teratomas. We present the case of a newborn of 39.4 weeks of gestation with a tumor that occupied the entire oral cavity. The patient was delivered by cesarean section. Oral resection was managed by pediatric surgery. Plastic surgery used virtual 3-dimensional models to establish the extension, and depth of the tumor. Bloc resection and reconstruction of the epignathus were performed. The mass was diagnosed as a mature teratoma associated with cleft lip and palate, nasoethmoidal meningocele that conditions hypertelorism, and a pseudomacrostoma. Tridimensional technology was applied to plan the surgical intervention. It contributed to a better understanding of the relationships between the tumor and the adjacent structures. This optimized the surgical approach and outcome.

CARIES TREATMENT OF A 4-YEAR-OLD FEMALE PATIENT WITH DE GROUCHY SYNDROME UNDER GENERAL ANESTHESIA : A CASE REPORT (de Grouchy syndrome 환아의 전신마취 하 치아우식 치료 증례 보고)

  • Song, Jisoo;Lee, Euj-Ji;Shin, Teo-Jeon;Hyun, Hong-Keun;Kim, Jung-Wook;Jang, Ki-Taeg;Lee, Sang-Hoon;Kim, Chong-Chul;Kim, Young-Jae
    • The Journal of Korea Assosiation for Disability and Oral Health
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    • v.9 no.1
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    • pp.42-45
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    • 2013
  • De Grouchy syndrome or Distal 18q- is a genetic condition caused by a deletion of genetic material within chromosome 18, and the deletion involves the distal section of 18q. It causes a wide range of medical and developmental concerns. Congenital orthopedic anomalies, cleft lip and palate are relatively common. People with distal 18q- are often small for their age. Most individuals with distal 18q- fall in the mild to moderate range of intellectual disability. Strabismus and nystagmus, changes in the optic nerve as well as colobomas are also fairly common. People with distal 18q- frequently have conductive and/or sensorineural hearing loss. At present, treatment for distal 18q- is only symptomatic. This article presents a case report: Caries treatment of a 4-year-old female patient with de Grouchy syndrome under general anesthesia. The special considerations of dental care, especially caries treatment for the patient with de Grouchy syndrome are discussed.

AN EXPERIMENTAL STUDY AND CASE ANALYSIS OF ACELLULAR DERMAL MATRIX IMPLANTATION FOR RESTORATION OF SOFT TISSUE DEFECTS (연조직 결손부 회복을 위한 무세포성 진피 기질 이식에 대한 실험연구 및 증례분석)

  • Ryu, Sun-Youl;Ryu, Jae-Young
    • Maxillofacial Plastic and Reconstructive Surgery
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    • v.30 no.1
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    • pp.1-10
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    • 2008
  • Purpose: This study was aimed to examine the resorption rate, the healing pattern, and the response of the surrounding tissue after the graft of the acellular dermal matrix ($AlloDerm^{(R)}$) and the autogenous dermis, and to report the clinical result of the use of $AlloDerm^{(R)}$ in order to restore the soft tissue defects. Methods: Twenty mature rabbits, weighing about 3 ㎏, were used for the experimental study. The $10\times10$ mm-size autogenous dermis and the $AlloDerm^{(R)}$ were grafted to the space between the external abdominal oblique muscle and the fascia of the rabbits. And the $AlloDerm^{(R)}$ was grafted to the pocket between the skin and the underlying perichondrium of rabbit ear. The resorption rate of the grafted sites was calculated, and the tissue specimens were histologically examined at 1, 2, 4, and 8 weeks after the graft. The five patients with the cleft-lip nasal deformity and the one patient with the saddle nose deformity, who received the $AlloDerm^{(R)}$ graft to restore the facial soft tissue defects, were reviewed for the clinical study. Results: The resorption rate at 8 weeks after the graft was 21.5% for the autogenous dermis, and 16.0% $AlloDerm^{(R)}$. In microscopic examinations, the infiltration of the inflammatory cells and the epidermal inclusion cyst were observed in the autogenous dermis graft. However, the neovascularization and the progressive growth of the new fibroblasts were shown in the $AlloDerm^{(R)}$ graft. And the six patients, who received the $AlloDerm^{(R)}$ graft, demonstrated the good stability of the grafts and improved appearance. There were no remarkable complications such as inflammation, rejection, dislocation, and severe absorption in the clinical cases. Conclusion: These results suggest that $AlloDerm^{(R)}$ can be an useful graft material for restoration of soft tissue defects because of the good stability and the tissue response without the remarkable clinical complications.

Retrospective Study of Infants who Visited Pediatric Dentistry (소아치과에 내원한 영아들에 대한 후향적 연구)

  • Oh, Yearang;Lee, Koeun;Kim, Misun;Nam, Okhyung;Choi, Sungchul;Kim, Kwangchul;Hwang, Jiyoung;Lee, Hyo-seol
    • Journal of the korean academy of Pediatric Dentistry
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    • v.47 no.2
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    • pp.157-166
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    • 2020
  • The first dental visit is recommended at the time of the eruption of the first tooth and no later than 12 months of age. However, even before the age of 1, children can visit the dental hospital for various reasons. The purpose of this study was to analyze the reasons for the dental visit of infant. From January 2006 to December 2015, medical records of infants who visited the Department of Pediatric Dentistry of Kyung Hee University were analyzed. The total number of patients was 419 (238 males and 181 females). The reasons for the dental visits were trauma (47.5%), natal/neonatal tooth (19.8%), dental caries (8.1%), teething problem (4.3%), abnormal frenum (3.6%), soft tissue swelling (3.6%), Bohn's nodule (3.3%), cleft lip and palate (2.9%), gingival neoplasm (1.9%), tongue ulceration (1.7%), oral examination (1.4%), enamel hypoplasia (1.2%) and abnormal temporomandibular joint sound (0.7%). According to this study, there were various oral diseases that could occur in infants. Since infants are usually cared by caregivers, pediatricians, and obstetricians, education of oral diseases of infants is needed to manage the oral symptoms properly.