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Genome-wide and Interaction Linkage Scan for Nonsyndromic Cleft Lip with or without Cleft Palate in Two Multiplex Families in Shenyang,China 被引量:2
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作者 YUN WANG XIN LI +4 位作者 WEN-LI ZHU JIN-ZHEN GUO XIAO-MING SONG SHU-QIN LI YONG LI 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2010年第5期363-370,共8页
Objectives To identify the loci involved in nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Northern Chinese people in Shenyang by using genomewide and interaction linkage scan.Methods Two multiplex ... Objectives To identify the loci involved in nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Northern Chinese people in Shenyang by using genomewide and interaction linkage scan.Methods Two multiplex families in Shenyang from North China were ascertained through probands with NSCL/P.Blood of every member was drawn for DNA extraction and analysis.Genotypes were available for 382 autosomal short tandem repeat (STR) markers from the ABI Prism Linkage Mapping Set version 2.5.Linkage between markers and NSCL/P was assessed by 2-point parametric LOD scores,multipoint heterogeneity parametric LOD scores (HLODs),and multipoint nonparametric linkage score (NPL).Results The initial scan suggested linkage on Chromosomes 1,2,and 15.In subsequent fine mapping,1q32-q42 showed a maximum multipoint LOD score of 1.9(empirical P=0.013) and an NPL score of 2.35 (empirical P=0.053).For 2p24-p25,the multipoint NPL increased to 2.94 (empirical P=0.007).2-locus interaction analysis obtained a maximum NPL score of 3.73 (P=0.00078) and a maximum LOD score of 3 for Chromosome 1 (at 221 cM) and Chromosome 2 (at 29 cM).Conclusion Both parametric and nonparametric linkage scores greatly increased over the initial linkage scores on 1q32-q42,suggesting a susceptibility locus in this region.Nonparametric linkage gave a strong evidence for a candidate region on chromosome 2p24-p25.The superiority of 2-locus linkage scores compared to single-locus scores gave additional evidence for linkage on 1q32-q42 and 2p24-p25,and suggested that certain genes in the two regions may contribute to NCSL/P risks with interaction. 展开更多
关键词 Nonsyndromic cleft lip with or without cleft palate Parametric linkage Nonparametric linkage INTERACTION
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Malonylcarnitine in Newborns with Non-syndromic Cleft Lip with or without Cleft Palate
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作者 Kamil Konrad Hozyasz Mariusz Oltarzewski Zofia Dudkiewicz 《International Journal of Oral Science》 SCIE CAS CSCD 2010年第3期136-141,共6页
Aim Malonyl-CoA is regarded as a key signaling molecule in mammalian ceils. It is converted to acetyl-CoA, and to a lesser extent, to malonyl acid and malonylcamitine (C3DC). Availability of carnitine has been repor... Aim Malonyl-CoA is regarded as a key signaling molecule in mammalian ceils. It is converted to acetyl-CoA, and to a lesser extent, to malonyl acid and malonylcamitine (C3DC). Availability of carnitine has been reported to be essential for the developing fetus. The objectives of the present study were to analyze associations of malonylcarnitine, acetylcarnitine (C2), and free carnitine (CO) in subjects with orofacial clefts. Methodology We performed a retrospective analysis of carnitine concentration obtained from a newborn screening program carried out in our institution. Concentrations of whole blood malonylcarnitine, acetylcarnitine, and free carnitine were measured using tandem mass spectrometry. The study group consisted of 51 children with nonsyndromic cleft lip with or without cleft palate. In total, 106 healthy children without congenital anomalies served as controls. Cut-off points were established using likeli-hood ratio values. Results The mean concentration of malonylcarnitine in the cleft group was lower than that of the control group, 0.048 μmol.L^1 vs. 0.058 μmol.L^-1, respectively (P=-0.009). In patients with orofacial cleft, low malonylcarnitine levels (〈0.047 μmol.L-1) were 1.7 times more predominant than in healthy individuals (P=-0.03). The mean concentration of acetylcarnitine was also lower in affected newborns in comparison to controls, 33.8 μol.L^-1 vs. 37.8 μmol·L^-1, respectively (P=-0.026). After analysis of acetylearnitine and free carnitine concentrations, the likelihood ratio test did not indicate valuable cut-offpoints. Conclusion The study provides initial data indicating a potential association between decreased malonylcarnitine and abnormal palatogenesis. 展开更多
关键词 cleft palate MALONYL-COA carnitines fatty acids BIOTIN
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Association of Single Nucleotide Polymorphisms in IRF6 and TGFA Genes With Nonsyndromic Cleft Lip With Or Without Cleft Palate in Chinese Patients
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作者 Ya Shen Yugui Cui +4 位作者 Weidong Wan Xiaoping Zhou Lu Cheng Zuhong Lu Jiayin Liu 《Journal of Nanjing Medical University》 2009年第1期40-45,共6页
Objective: Nonsyndromic cleft lip with or without cleft palate(NSCL/P) is a common birth defect with unclear etiology. Both genetic and environmental factors may contribute to NSCL/P. Many genes have been identifie... Objective: Nonsyndromic cleft lip with or without cleft palate(NSCL/P) is a common birth defect with unclear etiology. Both genetic and environmental factors may contribute to NSCL/P. Many genes have been identified as candidate genes associated with this disease. Interferon regulatory factor 6(IRF6) gene and transforming growth factor-a(TGFA) gene seem to be crucial in the predisposition of NSCL/ P. Here we evaluated some single nucleotide polymorphisms(SNPs) loci of TGFA and IRF6 genes in Chinese nuclear families consisting of fathers, mothers and affected offspring with NSCL/P. Methods:Fifty patients of NSCL/P were confirmed by the plastic surgeons. They and their parents were included in the study, all with the informed consents. SNPs loci of TGFA and IRF6 genes were analyzed by microarray technology. Some PCR products were randomly chosen and sequenced to check microarray results. The distribution of gene type and allele frequency between patient group and parents group were compared. Then a Haplotype Relative Risk(HRR) and Transmission Disequilibrium Test(TDT) were performed. Results:The sequences of randomly selected PCR products were all consistent with the microarray results. All loci were in Hardy-Weinberg equilibrium. There were no significant differences in the distribution of genotypes and alleles between patients and their parents. Using HRR and TDT analyses the V274I of IRF6 was associated with NSCL/P, while another SNP locus oflRF6 was not. Strong evidence of linkage disequilibrium was found between the 2 SNP loci of TGFA and disease with the HRR analysis, but not with the TDT analysis. Conclusion:Our study confirms the contribution of IRF6 in the etiology of NSCL/P in populations of Asian ancestry. The association of TGFA with NSCL/P requires further research. 展开更多
关键词 Nonsyndromic cleft lip with or without cleft palate(NSCL/P) transforming growth factor-a(TGFA) Interferon regulatory factor 6(IRF6) single nucleotide polymorphisms(SNPs)
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The Craniofacial Morphology in Adult Patients with Unoperated Isolated Cleft Palate 被引量:10
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作者 Zhongtai Ye Xue Xu +1 位作者 Adalet Ahmatjian Bing Shi 《Bone Research》 SCIE CAS 2013年第2期195-200,共6页
Objective: To address the effect of intrinsic factors on craniofacial growth by analyzing the craniofacial morphology of unoperated isolated cleft palate in Chinese adult. Materials and Methods: This study included ... Objective: To address the effect of intrinsic factors on craniofacial growth by analyzing the craniofacial morphology of unoperated isolated cleft palate in Chinese adult. Materials and Methods: This study included 37 nonsyndromic isolated cleft palate and 39 age and gender matched non-clefts. Twenty-six cephalometric measurements were employed to evaluate the facial morphology. Independent samples T test and Mann- Whitney U were used for comparison. Significant difference was defined at 95% level. Results: Data from this study showed patients with unoperated isolated cleft palate have a reduced maxillary sagittal length (ANS-PMP, A-PMP, P〈0.05), a smaller ANB angle (ANB, P〈0.05) and a retrusive ANS point (S-N-ANS, P〈0.05; Ba-N-ANS, P〈0.05). Measurements descripted position of maxilla (S-Ptm, P〉0.05), depth of bony pharynx (Ba-PMP, P〉0.05), anterior and posterior maxillary height (N-ANS, P〉0.05; R-PMP, P〉0.05) and mandible morphology (including linear measurements and angle measurements) did not show any significant difference between case and control groups. Conclusions: Patients with isolated cleft palate were characterized by maxillary retrusion. Mandible morphology and cranial basal morphology in isolated cleft palate showed no significant difference with nonclefts. Patients with isolated cleft palate are more vulnerable to cross bite than nonclefts. Intrinsic deficiencies did detrimental effect on maxilla sagittal length, but did no detrimental effect on maxilla position, mandible size and position. 展开更多
关键词 isolated cleft palate unoperated craniofacial morphology maxillary growth CEPHALOMETRY
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RETINOIC ACID DOWN-REGULATES BONE MORPHOGENETIC PROTEIN 7 EXPRESSION IN RAT WITH CLEFT PALATE 被引量:5
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作者 Lei Guo Yu-yan Zhao +2 位作者 Shi-liang Zhang Kui Liu Xiao-yu Gao 《Chinese Medical Sciences Journal》 CAS CSCD 2008年第1期28-31,共4页
Objective To evaluate the effects of retinoic acid (RA) on expression of bone morphogenetic protein 7 ( BMP-7 ) in rat fetus with cleft palate, and the effects of RA on proliferation and apoptosis of osteoblasts. ... Objective To evaluate the effects of retinoic acid (RA) on expression of bone morphogenetic protein 7 ( BMP-7 ) in rat fetus with cleft palate, and the effects of RA on proliferation and apoptosis of osteoblasts. Methods All-trans RA (ATRA) was used to induce congenital cleft palate in Wistar rat. BMP-7 mRNA expression in maxillary bone tissue of fetal rats was measured by Northern blotting analysis. Flow cytometry and MTF assay were used to measure the apoptosis and proliferation of ATRA-treated MC-3T3-E1 cells. BMP-7 mRNA and protein expressions in ATRA-treated MC-3T3-E1 cells were detected by RT-PCR and Western blotting analysis. Remilts ATRA could induce cleft palate of rat fetus. The incidence rate of cleft palate induced by 100 mg/kg AT-RA (45.5%) was significantly higher than 50 mg/kg ATRA ( 12.5%, P 〈 0. 05 ). BMP-7 mRNA expression decreased in maxillary bone tissue of rat fetus with cleft palate. MC-3T3-E1 cells proliferation treated with 1 × 10^-6 mol/L ATRA decreased by 60%, the cell apoptosis increased by 2 times. BMP-7 mRNA and protein levels in MC-3T3-E1 cells treated with 1 × 10^-6 mol/L ATRA decreased by 60% and 80%, respectively, compared with ATRA-untreated cells ( P 〈 0.05 ). Conclusions BMP-7 may play an important role in embryonic palate development. RA may possess the ability to down-regulate cell proliferation through regulation of BMP-7 gene expression. 展开更多
关键词 bone morphogenetic protein 7 retinoic acid cleft palate OSTEOBLAST
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Perioperative Management of Cleft Palate Repair in a Patient with Williams Syndrome: A Case Report 被引量:1
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作者 Balaji Asegaonkar Jiten J. Kulkarni +3 位作者 Rajgopal J. Totla Pulkeshi Kulkarni Shilpa Asegaonkar Santosh Totla 《Open Journal of Anesthesiology》 2013年第1期57-60,共4页
The Background: Williams syndrome is a neurodevelopmental multisystem genetic disorder characterized by dysmorphic features and a wide range of congenital cardiac, renal, musculoskeletal anomalies. Presence of cleft p... The Background: Williams syndrome is a neurodevelopmental multisystem genetic disorder characterized by dysmorphic features and a wide range of congenital cardiac, renal, musculoskeletal anomalies. Presence of cleft palate in these patients is an unusual condition. More than 22 cases of sudden cardiac death reported in literature especially during anesthetic management in the patients of Williams syndrome. So these patients present major perioperative challenges to anesthesiologist. The authors report successful anesthetic care for repair of cleft palate in presence of uncorrected patent ductus arteriosus (PDA) and mild supraventricular aortic stenosis (SVAS) in a 3.5-year-old female child diagnosed with Williams syndrome. Case report: Diagnosed case of Williams syndrome with characteristic facial dysmorphic features, SVAS and rare malformation of PDA, was scheduled for cleft palate repair. After keen preoperative assessment, general anesthesia was administered for the procedure with continuous monitoring for vital parameters. Because of dysmorphic features, difficulty was faced during intubation. Otherwise intraoperative procedure was uneventful. Postoperative analgesia was managed with intravenous paracetamol. Conclusion: Being a multisystem disorder, each patient of WS requires meticulous preoperative evaluation and high level of intraoperative and postoperative continuous monitoring regardless of any surgical procedure. Surgical correction of cleft palate in such patients demands very high anesthetic and surgical skills as both share common airway. Present case report highlights the significance of aggressive perioperative management in WS which can result in successful outcome. 展开更多
关键词 WILLIAMS SYNDROME PDA SVAS cleft palate Repair PERIOPERATIVE Management
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Effect of Cleft Lip and Palate Repair on Craniofacial Morphology in Patients with Unilateral Complete Cleft Lip and Palate. 被引量:2
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作者 YUShi-bin LIZu-bing 《口腔医学纵横》 CSCD 2001年第3期225-228,共4页
目的 :通过对替牙期正常儿童及单侧完全唇腭裂 (UCLP)患者X线头影测量侧位片进行比较研究 ,了解唇腭裂及其手术对颌骨发育的影响 ,探索继发畸形的发病机制。方法 :将替牙期的正常儿童及UCLP患者分为四组 :①正常对照组 (Normal) ,本组包... 目的 :通过对替牙期正常儿童及单侧完全唇腭裂 (UCLP)患者X线头影测量侧位片进行比较研究 ,了解唇腭裂及其手术对颌骨发育的影响 ,探索继发畸形的发病机制。方法 :将替牙期的正常儿童及UCLP患者分为四组 :①正常对照组 (Normal) ,本组包括 48名替牙期正常湖北地区儿童 ;②未手术组 (NO) ,本组 10名UCLP患者未经任何手术治疗 ;③唇裂修复组 (OL) ,34名UCLP患者已行唇裂修复 ,腭裂暂未手术 ;④唇腭裂修复组 (OLP) ,16名UCLP患者已行唇、腭裂修复。各受试对象拍摄X线头影测量侧位片 ,测量描述颌骨的形态特征及生长方向 ,对各组之间测量结果进行统计学分析。结果 :未行手术治疗的U CLP患者颌骨形态除腭部先天性发育不足外 ,颌骨侧位头影测量与正常无显著性差异 ;OL和OLP组较正常存在严重的颌骨畸形 ,主要表现为上颌后缩、位置后移 ,同时下颌骨向后下旋转移位 ;OL和OLP组上颌后缩的程度无显著性差异。结论 :UCLP患者颌骨具有趋于发育正常的生长能力 ;手术是导致颌骨继发畸形的主要因素 ;对于单侧完全唇腭裂患者 。 展开更多
关键词 单侧完全唇腭裂 颌骨形态 头影测量 修复术 唇裂 腭裂
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Comparison of Congenital Tooth Deficiencies Seen in Permanent Teeth in Individuals with Unilateral Cleft Lip and Palate to Those without Cleft Lip and Palate 被引量:1
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作者 Ege Dogan 《Open Journal of Stomatology》 2021年第5期188-196,共9页
<strong>Objective:</strong> To compare the congenital tooth deficiencies seen in permanent dentition in individuals with unilateral cleft lip and palate (UCLP) to non-cleft individuals with Angle Class I m... <strong>Objective:</strong> To compare the congenital tooth deficiencies seen in permanent dentition in individuals with unilateral cleft lip and palate (UCLP) to non-cleft individuals with Angle Class I malocclusion. <strong>Method:</strong> The study was performed on orthopantomograph films of 50 individuals with UCLP aged between 12 - 16 years and 50 individuals with Angle Class I malocclusion individuals aged between 13 - 15 years. Individuals with UCLP;32 clefts were on the left side and 18 clefts were on the right side. Permanent third molar teeth deficiency was excluded from the study. <strong>Results: </strong>In 50 individuals with UCLP;35 (70%) upper lateral incisors were congenitally deficient in the cleft area, while 15 (30%) missing lateral teeth were found in the non-cleft side. In control group, 12 (24%) of 50 patients had congenital lateral incisor deficiency. Congenital deficiency of upper lateral incisor in UCLP;the cleft area was higher than the non-cleft side (p < 0.01). The difference was statistically important when compared with the control group (p < 0.001). In 50 individuals with UCLP;while 27 (54%) of second premolar teeth were congenitally deficient in cleft side, 23 (46%) were missing in non-cleft side. In control group, 18 (36%) congenital second premolar deficiency was detected. However, second premolar congenital deficiency was higher in UCLP group when compared to control group (p < 0.01). <strong>Conclusion:</strong> The deficiency of the lateral incisors in the cleft side is more often congenitally deficient than upper second premolar teeth and this should be considered in the treatment planning from an early age. 展开更多
关键词 Congenital Teeth Deficiency Unilateral cleft Lip and palate
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Value of acoustic perceptual method for analysis of compensatory articulation errors in postoperative patients with cleft palate
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作者 李锦峰 刘建华 《Journal of Pharmaceutical Analysis》 SCIE CAS 2007年第2期231-234,共4页
Objective To establish an acoustic perceptual method analyzing the compensatory articulation errors in children with operated cleft palate via the formants of Chinese pure vowels. Methods The first three formants whic... Objective To establish an acoustic perceptual method analyzing the compensatory articulation errors in children with operated cleft palate via the formants of Chinese pure vowels. Methods The first three formants which represent vocal transmission character in Chinese pure vowels of 84 subjects with operated cleft palate, were measured by Computerized Speech Signal Processing System (CSSPS). The Chinese vowel graph of postoperative patients with cleft palate was stated by the first formant frequencies (F1) and the second formant frequencies (F2) of the Chinese pure vowels between the two groups. Results Values of F1 and F2 of vowels except [a] in the poor articulation group (Group A) were significantly different from those in the good articulation group (Group B) (P<0.05 or P<0.01). As compared with that in Group B, the vowel graph demonstrated the decreased perceptual distances in Group A. These findings indicated that there might still be the backward movements of tongue, perverted mandibular movements and disharmonious lip movements in addition to the velopharyngeal insufficiency (VPI) in Group A. Conclusion The speech articulation of children with repaired cleft palate should be gained by correcting the aberrant compensatory articulation errors in the condition of velopharyngeal competence. Computerized Speech Signal Processing System (CSSPS), which is regarded as the content of objective quantitative measurement, is a precise, simple, reliable and atroumatic technique for children with cleft palate to analyze pathological compensatory articulation errors. 展开更多
关键词 cleft palate compensatory articulation error ForMANT vowel graph
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Evaluation of Speech Intelligibility of a Cleft Palate Patient with Speech Prosthesis before and after Palatographical Analysis and Prosthesis Modification
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作者 Nikhil S. Rajan Lovely Muthiah +1 位作者 Jovita D’souza Biji Thomas George 《Journal of Biosciences and Medicines》 2017年第6期60-69,共10页
The aim of the study was to evaluate the alterations in speech intelligibility in a cleft palate patient, before and after extending and modifying the palatal contour of the existing prosthesis using a correctable wax... The aim of the study was to evaluate the alterations in speech intelligibility in a cleft palate patient, before and after extending and modifying the palatal contour of the existing prosthesis using a correctable wax recording. An eight-year-old girl studying in second grade with a velopharyngeal defect using an obturator reported to the outpatient clinic complaining of lack in clarity of speech. The existing prosthesis was lacking a speech bulb hence it was decided to add the speech bulb to the existing prosthesis and evaluate the speech. Even after the use of speech bulb it was observed that she was unable to pronounce the vowels and words like shoe, vision, cheer, etc. clearly. Hence, a palatography was done using a correctable wax technique and the existing prosthesis was altered accordingly. Great improvement in speech, mastication, and velopharyngeal function was achieved after the palatography alteration of the existing prosthesis. 展开更多
关键词 SPEECH PROSTHESIS SPEECH INTELLIGIBILITY Palatography PHONETICS cleft palate
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Gastroschisis Associated with Cleft Lip and Palate: Report of Three Cases
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作者 Kouamé Soroboua Agbara Martial Olivier Moulot +10 位作者 Adjoba Manuela Ehua Jean Marie Konan Ibrahim Traoré Franck Grah Anon Ghislain Anon Josaphat Konvolbo Robert Boulleys Idalia Ajoumissi Alphamoyé Haidara Paule-Christine Ekobo Sanni Roumanatou Bankolé 《Open Journal of Pediatrics》 2019年第1期1-6,共6页
Gastroschisis is a malformation of the abdominal wall like omphalocele. In most cases, gastroschisis is isolated. But in some cases, we find malformations, essentially minor and concern gastrointestinal or genitourina... Gastroschisis is a malformation of the abdominal wall like omphalocele. In most cases, gastroschisis is isolated. But in some cases, we find malformations, essentially minor and concern gastrointestinal or genitourinary systems. Association with craniofacial congenital midline defects is uncommon. We report 3 cases of association between gastroschisis and cleft lip and palate for the benefit of the scientific community. Two 0-day-old and a 1-day newborns were admitted in our institution for malformation of face and abdominal wall. The physical examination confirmed the association of gastroschisis and cleft lip and palate. The patients underwent primary closure. Other malformations could not be sought until all patients died. 展开更多
关键词 GASTROSCHISIS cleft LIP and palate Primary CLOSURE
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A Comparison of Transverse Palatal Width in Adult Untreated Cleft Palate Patients with Normal Adult Palates: A Pilot Study
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作者 Shenjuti Chowdhury Shahid Aziz +1 位作者 Richard D. Bloomstein Thomas J. Cangialosi 《Open Journal of Orthopedics》 2021年第4期126-137,共12页
<strong>Objective:</strong> The purpose of this pilot study is to compare the transverse palatal widths in untreated adult cleft palate patients with normal adult patients. <strong>Methods and Materi... <strong>Objective:</strong> The purpose of this pilot study is to compare the transverse palatal widths in untreated adult cleft palate patients with normal adult patients. <strong>Methods and Materials:</strong> The study was conducted in Bangladesh recruiting 10 patients with adult sized untreated cleft palate and 15 patients with normal adult sized palates. The control group was comprised of 7 males and 8 females with a mean age of 30.5 ± 4.4 years. The affected group comprised of 7 males and 3 females with a mean age 17 ± 3.3 years. Alginate impressions of the maxillary arch were taken and poured into plaster dental casts. The inter-canine, inter-premolar and intermolar widths were measured to evaluate the maxillary growth pattern in patients with unoperated cleft palate. Due to the small sample size, both independent T-test and Mann Whitney non-parametric tests were performed to analyze the statistical significance of the data. <strong>Results:</strong> According to both the T-test and Mann Whitney non-parametric tests, the inter-premolar width including both the first and second premolars was statistically significantly smaller in the affected group with p values of 0.003 and 0.00 respectively. There was no significant difference in the inter-canine width between the affected and control group due to the variable canine position in cleft palate patients. Due to small sample size, no significant difference in the intermolar width between the affected and control group could be established. <strong>Conclusion:</strong> The interpremolar width is significantly smaller in patients with adult sized cleft palates than individuals with normal adult sized palates. 展开更多
关键词 cleft palate ADULT TRANSVERSE Dimension
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GENETIC STUDY OF 1055 CASES WITH CLEFTLIPS AND CLEFT-PALATES
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作者 袁文化 邱蔚六 +1 位作者 夏炯 姜晓芸 《Medical Bulletin of Shanghai Jiaotong University》 CAS 1991年第2期57-63,共7页
All of 1055 cleft-lip and/or cleft-palate cases with their 1055 families were investigated. As the results." the incidence of siblings of propositi is 2.2% (39/1791). The incidences of the first, second and third... All of 1055 cleft-lip and/or cleft-palate cases with their 1055 families were investigated. As the results." the incidence of siblings of propositi is 2.2% (39/1791). The incidences of the first, second and third degree relatives were 1.53% (60/3927), 0.22% (25/11359), 0.30% (31/10296) respectively. In 17 cases, either of propositi’s parents had cleft, the incidence of cleft among propositi’s siblings was 9.52% (2/21). In 34 cases, the incidence of rest propositi’s siblings beyond those whose one sib had cleft or more is 5% (4/80), whereas both their parents were normal. Based on above, all incidences of different order relatives were higher than population ones. Furthermore, it is demonstrable that the closer the consanguinity is, the higher the incidence is, and if there was cleft in one family, the incidence increased obviously among his siblings or children, revealing apparent family tendency. In this group, the heritability is 46.80%. 展开更多
关键词 cleft-lip cleft-palate GENETICS propositi incidence
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Expectations of Caregivers of Patients with Cleft Lip and Palate Attending the Cleft Clinic of KATH for the First Time
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作者 Emile Kouakou Tano Priscilla Felicia Tano +3 位作者 Paa Ekow Hoyte-Williams Alexander Oti Acheampong Peter Donkor Solomon Obiri Yeboah 《Surgical Science》 2022年第10期449-459,共11页
Background: Cleft lip and palate (CLP) is one of the most prevalent congenital malformations affecting the face worldwide, with high prevalence in Asians, Americans, and Caucasians and low in Africans. Orofacial Cleft... Background: Cleft lip and palate (CLP) is one of the most prevalent congenital malformations affecting the face worldwide, with high prevalence in Asians, Americans, and Caucasians and low in Africans. Orofacial Clefts (OFCs) are among the causes of perinatal death in Ghana. The children often experience difficulties in swallowing, feeding, and speaking. These children often face problems in cognition, education, and communication. Caregivers’ ignorance of treatment, poverty, and noncompliance with follow-up schedules are obstacles to optimal cleft care. Most studies focus on the incidence of cleft, but not much is known about caregivers’ expectations. Methodology: An exploratory qualitative study design was used for this research between October and November 2020. The study site was the Komfo Anokye Teaching Hospital, (KATH), Kumasi, Ghana. The respondents were recruited from the oral health clinic. Included in the study were all CLP caregivers attending the cleft clinic for the first time. Purposive sampling was used to select fifteen caregivers who met the inclusion criteria. Face-to-face interviews with a semi-structured interview guide were used to collect data. The data were analyzed using NVivo software. Three major themes and six sub-themes emerged from the data analysis using thematic analysis. Ethical clearance was obtained for data collection. Results: Most caregivers were expecting their babies to be operated on, and they were certain that the cleft would be repaired at the end of the treatment, but they were unfamiliar with the process and cost of treatment. Less than half of the caregivers reported that they were oblivious to what to expect the first time visiting but had hopes that the healthcare professionals would be able to close the cleft for their babies. Conclusion: The majority of the caregivers expressed fear and disappointment at the diagnosis of their child. Some caregivers were very scared to the level where they had to hide the babies from the public. Others reported being already in financial difficulties, so their children’s conditions would compound them. 展开更多
关键词 cleft Lip and palate CAREGIVERS CONGENITAL ABNorMALITIES MALForMATION
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Three-dimensional finite element analysls for external midface distraction after different osteotomy in patients with cleft lip and palate
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作者 候敏 《外科研究与新技术》 2011年第4期267-268,共2页
Objective To study three - dimensional finite element analysis for external midface distraction after different osteotomy in patients with cleft lip and palate ( Clp) . Methods Three - dimensional Fem models of Le Fo... Objective To study three - dimensional finite element analysis for external midface distraction after different osteotomy in patients with cleft lip and palate ( Clp) . Methods Three - dimensional Fem models of Le Fort Ⅰ,Ⅱand Ⅲ,osteotomy in Clp patients were estabolished. External midface distraction were simulated. An anteriorly and inferiorly directed 900 g force was 展开更多
关键词 Three-dimensional finite element analysls for external midface distraction after different osteotomy in patients with cleft lip and palate Fort
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Assessment of Two Years of Free Surgical Treatment of Cleft Lip, Palate and Alveolar (CLPA) in the Maxillofacial Surgery and Stomatology Department of the Hospital University of Treichville-Abidjan
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作者 Anoumon Marguerite Reine Evelyne Anzouan-Kacou Romaric Evrard Assi Yapo +3 位作者 Jean Francois Regis Koffi Behibro Beatrice Tehoua Ettien Franck-Olivier Manoussa Seguy Emmanuel Kouadio Konan 《Open Journal of Stomatology》 2023年第8期223-232,共10页
Introduction: Cleft lip, palate and alveolar (CLPA) are congenital malformations of the face due to a defect in the fusion of embryonic buds during the first weeks of embryogenesis. These malformations affect the uppe... Introduction: Cleft lip, palate and alveolar (CLPA) are congenital malformations of the face due to a defect in the fusion of embryonic buds during the first weeks of embryogenesis. These malformations affect the upper lip, the alveolar bone and the palate. The incidence in Africa ranges from 1/2000 to 1/500 births. Their multidisciplinary management is long and costly. Thus, the help provided by humanitarian organisations during free care campaigns is welcome. Materials and Methods: This is a retrospective descriptive study conducted from August 2014 to July 2016 in the Maxillofacial Surgery and Stomatology Department of the Treichville University Hospital in Abidjan, Côte d’Ivoire. The objective was to describe the epidemiological, clinical and therapeutic aspects of CLPA during a humanitarian campaign for free care. Results: 51 cases of CLPA were operated on. Males were involved in 54.9% of the cases, i.e. a sex ratio of 1.2. The average age of the patients at the time of the operation was 3.44 years with extremes of 3 months and 52 years. Patients with low socioeconomic status represented 84.3% of the cases. Cleft lips (31.4%) and cleft palates (33.33%) predominated. For cleft lips, unilateral forms were the most frequent (73.5%) and the left side was most often affected (59.2%). The most common surgical techniques used were MILLARD cheiloplasty for cleft lips (79.36%) and Dorrance pushback for cleft palates (78.05%). The postoperative course was simple in the majority of cases (80.47%). Patients and/or parents were satisfied with the postoperative results in over 90% of cases. Discussion: Cleft lip and palate are common. Their management by humanitarian missions through mass campaigns allows us to receive a large number of patients affected by this pathology who are treated with a high satisfaction rate. Conclusion: The characteristics of cleft lip and palate in this study are in many respects identical to those described in the literature, but with some differences specific to Africa, notably the absence of antenatal diagnosis and the advanced age at the time of treatment. 展开更多
关键词 cleft Lip and palate Free Care Humanitarian Surgery
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Rhinoplasty in Cleft Lip and Palate
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作者 Enrique Hernandez Vidal Enrique Hernandez Del Moral +4 位作者 Omar Hernandez Del Moral Erick Daniel Hernandez Del Moral Juan Daniel Madera Brito Erik Ramos Garcia Crystell Guadalupe Guzmán-Priego 《Case Reports in Clinical Medicine》 2023年第11期439-446,共8页
Various surgical techniques and approaches have been described to repair cleft nose deformities. It is necessary to consider that since it is a congenital deformity, surgical management must consider the patient’s gr... Various surgical techniques and approaches have been described to repair cleft nose deformities. It is necessary to consider that since it is a congenital deformity, surgical management must consider the patient’s growth process, as well as the healing itself from the surgery. The present study aims to evaluate an alternative solution to secondary rhinology, aesthetic, and functional alterations to unilateral or bilateral cleft lift palate to minimize deformities and ensure good results. 11 patients were studied between 1995 to 2002, ten male and one female. In 8 cases, the patients had a history of cleft lip and palate on the left side, 2 patients with cleft lift palate on the right, and 1 patient with bilateral cleft lip and palate. 100% of the patients increased their naso-labial angle. This improved their appearance and structure, starting from a preoperative arithmetic mean of 39 degrees to a postoperative arithmetic mean of 96 degrees. Such intervention increased the naso-labial angle by 57 degrees. At the base of the nose, it was possible to improve the inclination of the alar line (line B) in 10 of the cases with a variation of 2 to 3 mm in relation to the perpendicular line A and only one case remained with the same inclination. 展开更多
关键词 cleft Lip and palate Naso-Labial Angle INCLINATION APPEARANCE
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BHMT Gene Polymorphisms as Risk Factors for Cleft Lip and Cleft Palate in a Chinese Population 被引量:3
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作者 HU Ying CHEN ErJun +2 位作者 MU Yue LI JinLu CHEN RenJi 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2011年第2期89-93,共5页
Objective Convincing evidence suggests a link between increased risk of nonsyndromic cleft lip with or without cleft palate (NSCL/P) and low intake of folic acid by the mother during pregnancy. The present study was... Objective Convincing evidence suggests a link between increased risk of nonsyndromic cleft lip with or without cleft palate (NSCL/P) and low intake of folic acid by the mother during pregnancy. The present study was designed to explore if genetic variation in the betaine‐homocysteine methyltransferase (BHMT) gene contributes to NSCL/P. Methods DNA was obtained from 166 individuals with NSCL/P and 285 healthy subjects. Three known single nucleotide polymorphisms (SNPs) present in the BHMT gene (rs651852, rs3797546, and rs3733890) were investigated by real‐time PCR‐based TaqMan genotyping. Results Neither allelic nor genotypic association was found between NSCL/P and SNPs rs651852 and rs3733890. SNP rs3797546 did not show allelic association with NSCL/P; however, a higher proportion of NSCL/P patients carry the CC genotype compared with the TT+CT genotype (P=0.020, OR=2.10, 95% CI=1.11‐3.95). Conclusion Our study suggests that polymorphism rs3797546 in the BHMT gene may confer genetic risk of NSCL/P in a recessive manner. 展开更多
关键词 Nonsyndromic cleft lip with or without palate HOMOCYSTEINE Folate POLYMorPHISMS
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Lateral Crus Graft with Autologous Rib Cartilage for Cleft Lip Nostril Asymmetry: A Report of 35 Cases 被引量:1
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作者 曹玮 郗敏 +2 位作者 周芳 冯幼平 黄立 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 2014年第3期387-392,共6页
Summary: A surgical technique of lateral crus strut graft to correct the deformity of nostril contour and improve asymmetric nostril shape by autologous rib cartilage was reported. Thirty-five patients (20 males and... Summary: A surgical technique of lateral crus strut graft to correct the deformity of nostril contour and improve asymmetric nostril shape by autologous rib cartilage was reported. Thirty-five patients (20 males and 15 females), with a mean age of 19 years (range of 16-26 years) were included in this study. All of the patients suffered moderate to severe unilateral cleft lip nostril deformity and underwent surgical technique of lateral crus strut graft by autologous rib cartilage to correct the asymmetric nostril contour from 2010 to 2012. The views of the nostril contour on both sides were reviewed and some parameters were measured at different time points (preoperatively, and 3 months and one year postoperatively) including the long axis and short axis of the nostrils. The differences in nostrils including long axis, short axis, elliptical area and eccentricity on the both sides were compared at different time points. The differences in the long axis and eccentricity of the nostrils on the two sides were decreased significantly between the preoperative view and postoperative view (P〈0.05). The surgical technique of lateral crus graft with autologous rib cartilage is effective to correct the abnormal nostril contour and improve the asymmetry for unilateral cleft clip patients. 展开更多
关键词 cleft lip rib cartilage nostril
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A Case-control Study of Environmental Risk Factors for Nonsyndromic Cleft of the Lip and/or Palate in Xuzhou,China 被引量:2
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作者 XU Li Fang ZHOU Xiao Long +12 位作者 WANG Qi ZHOU Ji Long LIU Ya Peng JU Qiang WANG Hui ZHANG Jin Peng WU Qing Rong LI Yi Qun XIA Yu Juan PENG Xiu ZHANG Mei Rong YU Hong Min XU Li Chun 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2015年第7期535-538,共4页
In this study, we sought to determine the association between environmental factors and nonsyndromic cleft of the lip and/or palate (NSCLP) to understand the etiology of the disease. A total of 200 NSCLP cases and 3... In this study, we sought to determine the association between environmental factors and nonsyndromic cleft of the lip and/or palate (NSCLP) to understand the etiology of the disease. A total of 200 NSCLP cases and 327 controls were recruited at the Maternal and Child Health Hospital of Xuzhou City. We conducted face-to-face interviews with the mothers of both cases and controls. The factors increasing the risk of NSCLP were a positive family history [odds ratio (OR)=56.74], pesticide exposure (OR=8.90), and indoor decoration pollution (OR= 4.32). On the other hand, the factors decreasing the risk of NSCLP were a high education level (OR=0.22) and supplementation of folic acid (OR=0.23) and multivitamins (OR=0.16). Positive family history, pesticide exposure, and indoor decoration pollution are associated with the risk of NSCLP. In contrast, high education level and folic acid and multivitamin supplementation are protective factors against NSCLP. 展开更多
关键词 A Case-control Study of Environmental Risk Factors for Nonsyndromic cleft of the Lip and/or palate in Xuzhou China CLP
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