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1.
Orthod Craniofac Res ; 27(6): 839-852, 2024 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38661057

RESUMEN

A systematic review and meta-analysis was conducted to evaluate the impacts of mandibular setback with or without maxillary advancement for class III skeletal correction on respiratory parameters measured by polysomnography (PSG) and to compare these respiratory parameters between these procedures for class III skeletal correction. Six electronic databases were searched up to June 2023. Studies comparing PSG parameters before and after orthognathic surgery for skeletal class III patients were selected for further analysis. The outcomes of interest were apnoea-hypopnea index (AHI), respiratory disturbance index (RDI), the lowest oxygen saturation (lowest SpO2), the average oxygen saturation (mean SpO2), and the 3% oxygen desaturation index (3% ODI). Data extraction, methodological quality assessment, risk of bias assessment, meta-analysis, and subgroup analysis were performed. Sixteen studies with a total of 476 patients who underwent orthognathic surgery for class III skeletal correction were included for meta-analysis. The risk of bias level was moderate for most studies. All PSG parameters before and after orthognathic surgery were not significantly different. The different surgical procedures also did not significantly affect post-operative PSG parameters. 5.8% of patients developed post-operative obstructive sleep apnoea (OSA). Most of them underwent a large distance of mandibular setback. There is a moderate level of evidence that mandibular setback with or without maxillary advancement for class III skeletal correction does not pre-dispose young and healthy patients to obstructive sleep apnoea when evaluated in the short term after surgery. However, post-operatively developed OSA was found in several isolated cases that underwent a large amount of mandibular setback with or without maxillary advancement.


Asunto(s)
Maloclusión de Angle Clase III , Procedimientos Quirúrgicos Ortognáticos , Polisomnografía , Humanos , Maloclusión de Angle Clase III/cirugía , Mandíbula/cirugía , Apnea Obstructiva del Sueño/cirugía , Maxilar/cirugía , Avance Mandibular
2.
Orthod Craniofac Res ; 27(3): 350-363, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38288677

RESUMEN

This study aims to analyze long-term effects of nasoalveolar molding (NAM) as a part of cleft primary management protocols on nasolabial aesthetics for patients with non-syndromic cleft lip and palate by conducting a systematic review and meta-analysis. Six electronic databases and two journals were searched up to July 2023. Studies comparing nasolabial outcomes between NAM and non-NAM protocols were selected for further analysis. Nasolabial aesthetics were the outcome of interest. Data extraction, methodological quality assessment, risk of bias assessment, meta-analysis and subgroup analysis were performed. Seven retrospective cohort studies were selected for a qualitative review and four for a quantitative analysis. The risk of bias assessment was moderate for most studies. Only studies utilizing the Asher-McDade rating (AMR) were included for meta-analyses. The protocols with NAM exhibited a significantly lower AMR score for vermillion border than other protocols. AMR scores for nasal form and nasal symmetry from protocols with NAM were significantly lower than protocols without any pre-surgical infant orthopaedics (PSIO) but not significantly different from protocols with other PSIO techniques. The AMR score for nasolabial profile from protocols with NAM was not significantly different from other protocols. However, subgroup analysis demonstrated that protocol combining NAM and primary rhinoplasty significantly lowered AMR scores for nasal form, nasal symmetry and nasolabial profile. For patients with unilateral cleft lip with or without palate (UCLP), this study found that a protocol combining NAM and primary rhinoplasty improved nasolabial outcomes while a protocol with NAM alone offered only limited benefits. For patients with BCLP, the available evidence remains inconclusive. Performing NAM in combination with primary rhinoplasty improves nasolabial aesthetics in patients with UCLP. PROSPERO (CRD4202128384).


Asunto(s)
Labio Leporino , Fisura del Paladar , Estética , Modelado Nasoalveolar , Nariz , Niño , Preescolar , Humanos , Lactante , Labio Leporino/cirugía , Labio Leporino/terapia , Fisura del Paladar/cirugía , Fisura del Paladar/terapia , Labio , Nariz/anomalías , Estudios Retrospectivos
3.
BMC Oral Health ; 24(1): 1196, 2024 Oct 08.
Artículo en Inglés | MEDLINE | ID: mdl-39379890

RESUMEN

BACKGROUND: Halitosis appears to have significant impacts on quality of life, necessitating reliable assessment tools. The Halitosis Associated Life-Quality Test (HALT) has been validated in various populations, but not among Thai people. While HALT provides a valuable foundation, there is a need for a culturally adapted and expanded instrument for the Thai context. Consequently, this study aimed to develop and validate a comprehensive questionnaire for assessing halitosis-related quality of life in Thai populations, incorporating a Thai version of HALT (T-HALT) as a core component. MATERIALS AND METHODS: This cross-sectional study involved 200 dental patients at Mahidol University. The original HALT was translated into Thai using forward-backward translation. Cultural adaptation and psychometric properties of T-HALT were evaluated through multiple approaches. Content validity was ensured through expert reviews, while face validity was assessed by patient feedback. Reliability was examined via test-retest and internal consistency measures. Criterion and discriminant validity was evaluated by correlating T-HALT scores with self-perceived halitosis and volatile sulfur compound (VSC) measurements, respectively. VSCs were quantified using the OralChroma™ device, which analyzes breath samples collected directly from patients' mouths. Construct validity was assessed through exploratory (EFA) and confirmatory factor analysis (CFA), providing insights into the questionnaire's underlying structure. RESULTS: T-HALT demonstrated excellent internal consistency (Cronbach's alphas = 0.940-0.943) and test-retest reliability (ICC = 0.886). Criterion validity was supported by a significant correlation between T-HALT scores and self-perceived halitosis (r = 0.503, P < 0.001). Discriminant validity was confirmed by the absence of a significant correlation between T-HALT scores and VSC levels (r = 0.071, P = 0.32). EFA revealed a four-factor structure, which was subsequently confirmed by CFA. However, Items 1 and 7 were excluded due to poor standardized factor loadings. CONCLUSION: T-HALT demonstrates good reliability and validity for assessing halitosis-related quality of life in Thai populations. It performs well as a unidimensional measure, but its multidimensional application requires modifications. Future research should validate a modified version excluding Items 1 and 7 across diverse Thai populations, potentially enhancing its cultural specificity.


Asunto(s)
Halitosis , Psicometría , Calidad de Vida , Humanos , Halitosis/psicología , Halitosis/diagnóstico , Tailandia , Femenino , Estudios Transversales , Masculino , Reproducibilidad de los Resultados , Adulto , Encuestas y Cuestionarios/normas , Persona de Mediana Edad , Anciano , Adulto Joven , Pueblos del Sudeste Asiático
4.
Am J Orthod Dentofacial Orthop ; 164(4): 575-583, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37212766

RESUMEN

INTRODUCTION: The few studies investigating the relationship between nasal septum deviation (NSD) and maxillary development, using different assessment methods and the age of subjects, reported contradicting results. METHODS: The association between NSD and transverse maxillary parameters was analyzed using 141 preorthodontic full-skull cone-beam computed tomography scans (mean age, 27.4 ± 9.01 years). Six maxillary, 2 nasal, and 3 dentoalveolar landmarks were measured. The intraclass correlation coefficient was used to assess intrarater and interrater reliability. The correlation between NSD and transverse maxillary parameters was analyzed using the Pearson correlation coefficient. Each transverse maxillary parameter was compared among 3 groups of different degrees of severity using the analysis of variance test. Transverse maxillary parameters were also compared between the more and less deviated nasal septum sides using the independent t test. RESULTS: A correlation between deviated septal width and palatal arch depth (r = 0.2, P <0.013) and significant differences in palatal arch depth (P <0.05) among 3 NSD severity groups classified with deviated septal width was noted. There was no correlation between septal deviated angle and transverse maxillary parameters and no significant difference for transverse maxillary parameters among the 3 groups of NSD severity classified by septal deviated angle. No significant difference in transverse maxillary parameters was found when comparing the more and the less deviated sides. CONCLUSIONS: This study suggests that NSD can affect palatal vault morphology. The magnitude of NSD may be a factor associated with transverse maxillary growth disturbance.

5.
Cleft Palate Craniofac J ; 56(2): 280-284, 2019 02.
Artículo en Inglés | MEDLINE | ID: mdl-29746155

RESUMEN

OBJECTIVE: Traditional nasoalveolar molding (NAM) requires steep learning curve for clinicians and significant compliance from parents. Nasal springs have been developed by the author to simplify presurgical nasal molding. This article presents the design, construction, and application of the spring. The treatment goal is to improve nasal deformity prior to primary repair in infants born with incomplete unilateral cleft lip with or without cleft palate. METHOD: The design, fabrication, and utility of the nasal spring are described. The spring has a simpler design and construction compared to a traditional NAM appliance. PARTICIPANTS: Two patients with incomplete unilateral cleft lip with and without cleft palate are presented. INTERVENTIONS: The spring is constructed and delivered. The active arm of the spring can be 3-dimensionally (3-D) adjusted to mold the alar cartilage of the affected nostril. The spring does not require an oral plate for adherence as a traditional NAM appliance does, hence an oral impression is not needed. The spring is easy for clinicians to adjust. It also requires less compliance by parents. MAIN OUTCOME MEASURES/RESULTS: The presurgical molding achieved by the use of a nasal spring improved surgical nasolabial aesthetic outcomes. CONCLUSION: The nasal springs are effective in reducing the initial cleft nasal deformity. This facilitates primary surgical cleft lip and nose correction and improves surgical outcomes in patients with incomplete unilateral cleft lip with or without cleft palate.


Asunto(s)
Labio Leporino , Fisura del Paladar , Estética Dental , Humanos , Lactante , Nariz , Cuidados Preoperatorios
6.
Cleft Palate Craniofac J ; 55(5): 655-663, 2018 05.
Artículo en Inglés | MEDLINE | ID: mdl-29446986

RESUMEN

OBJECTIVE: To compare nasolabial appearance outcomes of patients with complete unilateral cleft lip and palate (CUCLP) in preadolescence from 4 cleft centers including a center using nasoalveolar molding (NAM) and primary nasal reconstruction. DESIGN: Retrospective cohort study. SETTING: Four cleft centers in North America. PATIENTS: 135 subjects with repaired CUCLP. METHODS: Frontal and profile facial pictures were assessed using the Asher-McDade rating scale. Intra- and interrater reliability were tested using weighted Kappa statistics. Median scores by center were compared with Kruskal-Wallis statistics. RESULTS: Intrarater reliability scores were moderate to good. Interrater reliability scores were moderate. Significant differences ( P < .05) among centers were found. For nasal form, center G (median = 2.83) had better scores than centers C and D (C median = 3.33, D median = 3.17). For nose symmetry, center G had better scores (median = 2.33) than all other centers (B median = 2.67, C median = 2.83, D median = 2.83). For vermillion border, center G had better scores (median = 2.58) than centers B and C (B median = 3.17, C median = 3.17). For nasolabial profile, center G (median score = 2.67) had better scores than center C (median = 3.00). For total nasolabial score, center G (median = 2.67) had better scores than all other centers (B median = 2.83, C median = 3, D median = 2.83). CONCLUSION: The protocol followed by center G, the only center that performed NAM and primary nasal reconstruction, produced better results in all categories when compared to center C, the only center that did not perform presurgical orthopedics or lip/nose revisions. When compared to centers that performed traditional presurgical orthopedics and surgical revisions (B and D), center G was not consistently better in all categories. As with other uncontrolled, retrospective intercenter studies, it is not possible to attribute the outcomes to a specific protocol component.


Asunto(s)
Labio Leporino/cirugía , Labio Leporino/terapia , Fisura del Paladar/cirugía , Fisura del Paladar/terapia , Estética Dental , Obturadores Palatinos , Procedimientos de Cirugía Plástica/métodos , Niño , Labio Leporino/diagnóstico por imagen , Fisura del Paladar/diagnóstico por imagen , Terapia Combinada , Femenino , Humanos , Masculino , América del Norte/epidemiología , Fotograbar , Estudios Retrospectivos , Resultado del Tratamiento
7.
Cleft Palate Craniofac J ; 55(6): 821-829, 2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-27802067

RESUMEN

OBJECTIVE: To compare dental arch relationship and craniofacial morphology of patients with CUCLP in pre-adolescence from five cleft centers including a center using NAM. DESIGN: Retrospective cohort study. SETTING: Five cleft centers in North America. PATIENTS: One hundred eighty-two subjects with repaired CUCLP from the five cleft centers participated in the craniofacial form study. One hundred forty-eight subjects from four of the five centers participated in the dental arch relationship study. METHODS: Digital dental models were assessed using the GOSLON Yardstick. Eighteen cephalometric measurements were performed. Measurement means, by center, were compared. Analysis of variance and Tukey-Kramer analysis were used to compare GOSLON scores and cephalometric measurements. RESULTS: The center that performed neither PSOT (including NAM) nor primary bone grafting exhibited the most favorable mean GOSLON score. The same center also showed the highest mean SNA, ANB, and ANS-N-Pg angles. However, the mean ANB and ANS-N-Pg angles were not significantly different from those of the center using NAM. No statistically significant differences were seen for mandibular prominence, vertical dimensions, or dental inclinations. The center with NAM also showed a significantly smaller nasoform angle than two of the four other centers. CONCLUSION: The centers that used NAM and other forms of PSOT did not have better dental arch relationships or craniofacial morphology compared with the centers that performed only primary lip repair. However, this study was not designed to investigate the cause-and-effect relationship between specific outcomes and particular features of those protocols.


Asunto(s)
Trasplante Óseo/métodos , Cefalometría/métodos , Labio Leporino/diagnóstico por imagen , Labio Leporino/cirugía , Fisura del Paladar/diagnóstico por imagen , Fisura del Paladar/cirugía , Arco Dental/fisiopatología , Obturadores Palatinos , Procedimientos de Cirugía Plástica/métodos , Niño , Preescolar , Terapia Combinada , Femenino , Humanos , Lactante , Recién Nacido , Registro de la Relación Maxilomandibular , Masculino , América del Norte , Evaluación de Resultado en la Atención de Salud , Estudios Retrospectivos , Resultado del Tratamiento
8.
J Clin Exp Dent ; 16(8): e1012-e1020, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39281791

RESUMEN

Background: To compare measurements of tooth size and arch dimensions among those taken directly intraorally with those made on digital and 3D printed models produced by intraoral scanning. Material and Methods: Sixty-six participants were recruited. Intraoral tooth size and arch measurements were taken intraorally with a digital caliper. Digital impressions were taken with an iTero® intraoral scanner. The three-dimensional digital models were measured using a 3D diagnostics tool (OrthoCAD software). The same digital models were used to fabricate physical models using a resin 3D printer (Elegoo Saturn). The measurements were repeated on 3D printed models by using the digital caliper. The recorded parameters included mesiodistal tooth widths, transverse, and antero-posterior dimensions. All measurements were repeated to assess intra- and inter- examiner reliability. The validity of each measurement method was assessed by repeated measures ANOVA with post-hoc pairwise comparisons (p<0.5). Results: The mean differences among three methods for all parameters were statistically significant (p<.05) but were considered to be clinically insignificant, except for the upper intercanine width. Direct intraoral measurements tend to be smaller than the digital and 3D printed models. The ICCs values indicated excellent intra- and inter-examiner reliability which demonstrates high reproducibility for all measurements on all model types. Conclusions: Direct intraoral measurements tend to be smaller than the digital and 3D printed models. However, the accuracy of measurements made directly intraorally, and on digital and 3D models from intraoral scans is clinically acceptable, except for the upper intercanine width. Key words:Tooth measurements, Accuracy, Dental models, 3D printing, Digital model.

9.
Prog Orthod ; 25(1): 35, 2024 Sep 16.
Artículo en Inglés | MEDLINE | ID: mdl-39279025

RESUMEN

OBJECTIVES: This study aimed to assess the accuracy of machine learning (ML) models with feature selection technique in classifying cervical vertebral maturation stages (CVMS). Consensus-based datasets were used for models training and evaluation for their model generalization capabilities on unseen datasets. METHODS: Three clinicians independently rated CVMS on 1380 lateral cephalograms, resulting in the creation of five datasets: two consensus-based datasets (Complete Agreement and Majority Voting), and three datasets based on a single rater's evaluations. Additionally, landmarks annotation of the second to fourth cervical vertebrae and patients' information underwent a feature selection process. These datasets were used to train various ML models and identify the top-performing model for each dataset. These models were subsequently tested on their generalization capabilities. RESULTS: Features that considered significant in the consensus-based datasets were consistent with a CVMS guideline. The Support Vector Machine model on the Complete Agreement dataset achieved the highest accuracy (77.4%), followed by the Multi-Layer Perceptron model on the Majority Voting dataset (69.6%). Models from individual ratings showed lower accuracies (60.4-67.9%). The consensus-based training models also exhibited lower coefficient of variation (CV), indicating superior generalization capability compared to models from single raters. CONCLUSION: ML models trained on consensus-based datasets for CVMS classification exhibited the highest accuracy, with significant features consistent with the original CVMS guidelines. These models also showed robust generalization capabilities, underscoring the importance of dataset quality.


Asunto(s)
Vértebras Cervicales , Aprendizaje Automático , Variaciones Dependientes del Observador , Humanos , Vértebras Cervicales/crecimiento & desarrollo , Masculino , Femenino , Niño , Cefalometría/métodos , Máquina de Vectores de Soporte , Adolescente , Determinación de la Edad por el Esqueleto/métodos , Conjuntos de Datos como Asunto
10.
Int Dent J ; 2023 Dec 02.
Artículo en Inglés | MEDLINE | ID: mdl-38044215

RESUMEN

BACKGROUND: Dental sleep medicine education (DSME) should be emphasised in postgraduate orthodontic training; however, there appears to be no clear guideline for its implementation into the curriculum. OBJECTIVE: The aim was to investigate the current status of DSME as well as its feasibility and implementation in postgraduate orthodontic programmes. METHODS: A structured interview with predetermined response options was chosen as a data collection method to gather relevant information from representatives of all accredited postgraduate orthodontic programmes in Thailand. These interviews were conducted online via the Cisco Webex Meeting platform. A combination of data analysis techniques was employed to achieve a thorough comprehension of the research findings, including descriptive statistics, quantitative content analysis, thematic analysis, and alignment analysis. RESULTS: All participating programmes reported the inclusion of DSME in their curricula. A didactic approach was adopted by all programmes. However, only 2 out of 7 programmes offered clinical sessions for their students. Several challenges in implementing DSME within orthodontic programmes were identified, including a shortage of expertise and limited patient access. The participants also suggested that knowledge and resource sharing amongst institutions could serve as a potential solution to enhance the feasibility of DSME. CONCLUSIONS: This research highlighted the significant disparities and inadequacy of DSME within postgraduate orthodontic programmes in Thailand due to various challenges. Consequently, there is a compelling need to place greater emphasis on DSME and establish a national-level standardisation within orthodontic programmes. This effort is essential for enhancing the awareness and competency of orthodontists in the field of DSME.

11.
Am J Orthod Dentofacial Orthop ; 139(2): 260-70, 2011 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-21300256

RESUMEN

Treatment for patients with craniofacial anomalies always presents a great challenge to orthodontists. Treatment usually requires both comprehensive orthodontic treatment and orthognathic surgery. In this article, we report on a patient with Pfeiffer's syndrome treated by midfacial distraction and comprehensive orthodontics.


Asunto(s)
Acrocefalosindactilia/complicaciones , Huesos Faciales/anomalías , Maloclusión de Angle Clase III/cirugía , Maxilar/cirugía , Micrognatismo/cirugía , Osteogénesis por Distracción , Blefaroptosis/etiología , Blefaroptosis/cirugía , Cefalometría , Preescolar , Femenino , Humanos , Maloclusión de Angle Clase III/etiología , Maloclusión de Angle Clase III/terapia , Micrognatismo/etiología , Procedimientos Quirúrgicos Ortognáticos
12.
J Clin Sleep Med ; 17(3): 601-604, 2021 03 01.
Artículo en Inglés | MEDLINE | ID: mdl-33231165

RESUMEN

STUDY OBJECTIVES: We reported an 8-year-old male patient with Schwartz-Jampel syndrome, severe obstructive sleep apnea, constricted maxilla and moderate tonsillar hypertrophy. The syndrome is characterized by myotonia, skeletal dysplasia, and facial dysmorphism. METHODS: CPAP was initially prescribed, but he was not able to tolerate due to a high pressure setting. Rapid maxillary expansion alone reduced AHI to 10.4 events/h. RESULTS: When combined with CPAP, AHI is further reduced to 2.4 events/h. The patient has a better compliance with CPAP following rapid maxillary expansion therapy as the pressure setting decreased. CONCLUSIONS: This is the first report utilizing a combination of rapid maxillary expansion and CPAP therapy to successfully treat severe pediatric OSA.


Asunto(s)
Osteocondrodisplasias , Apnea Obstructiva del Sueño , Niño , Presión de las Vías Aéreas Positiva Contínua , Humanos , Masculino , Maxilar , Técnica de Expansión Palatina , Cooperación del Paciente
13.
Clin Case Rep ; 8(12): 2550-2553, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33363777

RESUMEN

We reported dental and craniofacial characteristics of an SJS patient with severe OSA. Not only does the syndrome cause skeletal abnormalities and myotonia, but it also affects the craniofacial development resulting in a severe constriction of maxillary arch and bimaxillary retrognathia which may increase a risk to develop pediatric OSA.

14.
Cleft Palate Craniofac J ; 40(1): 71-9, 2003 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-12498608

RESUMEN

OBJECTIVE: Involvement of loci on chromosome 17, including retinoic acid receptor alpha (RARA) in nonsyndromic oral clefts has been reported in Caucasian populations, although never investigated in Asian populations. The purpose of the present study was to investigate several loci on chromosome 17, including RARA, in Chinese families. PARTICIPANTS: Thirty-six multiplex families (310 individuals), ascertained through nonsyndromic cleft lip with or without cleft palate surgical probands from hospitals in Shanghai, China, participated in the present study. There were 23 families whose probands had cleft lip and cleft palate (CLP) and 13 with cleft lip alone (CL). RESULTS: Seventeen markers, spanning chromosome 17 and about 10 cM apart were assessed. Logarithm of odds ratio (LOD) scores (two point and multipoint), model-free linkage analyses, and allelic association tests (transmission/disequilibrium, Fisher's exact tests, and chi-square) were performed on the total family sample, families with CLP probands (CLP subgroup), and families with CL probands (CL subgroup). LOD scores from the two-point analyses were inconclusive. Multipoint analyses rejected linkage except for a few regions in the CL subgroup. However, positive results were found using the model-free linkage and association methods (p < .05). The markers with positive results varied across the CL and CLP subgroups. However, the RARA region and loci nearby yielded consistently positive results. CONCLUSION: Genetic variation within the RARA locus or nearby appears to be involved in the pathogenesis of nonsyndromic oral clefts in this population. Furthermore, based on the differing pattern of results in the CL versus CLP subgroups, it appears that the formation of CL and CLP is because of either differing alleles at the same genetic locus or different but related (and/or linked) genes that modify the severity and expression of oral clefting.


Asunto(s)
Pueblo Asiatico/genética , Mapeo Cromosómico , Cromosomas Humanos Par 17/genética , Labio Leporino/genética , Fisura del Paladar/genética , Alelos , Distribución de Chi-Cuadrado , China , ADN/genética , Ligamiento Genético/genética , Marcadores Genéticos/genética , Variación Genética/genética , Humanos , Desequilibrio de Ligamiento/genética , Escala de Lod , Modelos Genéticos , Receptores de Ácido Retinoico/genética , Receptor alfa de Ácido Retinoico , Estadística como Asunto
15.
Cleft Palate Craniofac J ; 39(2): 149-56, 2002 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-11879070

RESUMEN

OBJECTIVE: Although Asians have the highest birth prevalence of oral-facial clefts, the majority of gene mapping studies of cleft lip with or without cleft palate (CL/P) have been in European or American Caucasians. Therefore, the objective of this study of Chinese families was to evaluate linkage and association between CL/P and 10 genetic markers in five chromosomal regions that have shown positive results in Caucasians. SETTING: Families were ascertained through nonsyndromic CL/P surgical probands from hospitals throughout Shanghai, China. PARTICIPANTS: Study participants included 671 individuals from 60 families with two or more members affected with oral-facial clefts. Of the 671 total individuals, 145 were affected. RESULTS: Ten markers from chromosomes 2, 4, 6, 17, and 19 were assessed (TGFA, MSX1, D4S194, D4S175, F13A1, GATA185H, D17S250, D17S579, D19S49, APOC2). LOD scores were calculated between each of the 10 markers and CL/P as well as model-free statistics of linkage (SimIBD) and association (TDT). None of the markers showed significantly positive LOD scores with CL/P. A significantly positive result (p =.01) was seen using SimIBD for APOC2 on chromosome 19, and a positive TDT result (p =.004) was obtained for D19S49, near APOC2. CONCLUSIONS: This is the first gene mapping study of CL/P in China. These results indicate that most of the genetic regions with positive results in Caucasian families may not be involved in CL/P found in China, although there is some positive evidence for the candidate region on chromosome 19.


Asunto(s)
Mapeo Cromosómico , Labio Leporino/genética , Fisura del Paladar/genética , Factores de Transcripción , Alelos , Pueblo Asiatico/genética , China , Cromosomas Humanos Par 17/genética , Cromosomas Humanos Par 19/genética , Cromosomas Humanos Par 2/genética , Cromosomas Humanos Par 4/genética , Cromosomas Humanos Par 6/genética , Femenino , Ligamiento Genético/genética , Marcadores Genéticos/genética , Genotipo , Proteínas de Homeodominio/genética , Humanos , Escala de Lod , Factor de Transcripción MSX1 , Masculino , Repeticiones de Microsatélite/genética , Modelos Genéticos , Estadística como Asunto , Estadísticas no Paramétricas , Factor de Crecimiento Transformador alfa/genética
16.
Am J Hum Genet ; 71(2): 349-64, 2002 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-12087515

RESUMEN

Cleft lip with or without cleft palate (CL/P) is a common congenital anomaly. Birth prevalences range from 1/500 to 1/1,000 and are consistently higher in Asian populations than in populations of European descent. Therefore, it is of interest to determine whether the CL/P etiological factors in Asian populations differ from those in white populations. A sample of 36 multiplex families were ascertained through probands with CL/P who were from Shanghai. This is the first reported genome-scan study of CL/P in any Asian population. Genotyping of Weber Screening Set 9 (387 short tandem-repeat polymorphisms with average spacing approximately 9 cM [range 1-19 cM]) was performed by the Mammalian Genotyping Service of Marshfield Laboratory. Presented here are the results for the 366 autosomal markers. Linkage between each marker and CL/P was assessed by two-point and multipoint LOD scores, as well as with multipoint heterogeneity LOD scores (HLODs) plus model-free identity-by-descent statistics and the multipoint NPL statistic. In addition, association was assessed via the transmission/disequilibrium test. LOD-score and HLOD calculations were performed under a range of models of inheritance of CL/P. The following regions had positive multipoint results (HLOD > or =1.0 and/or NPL P< or =.05): chromosomes 1 (90-110 cM), 2 (220-250 cM), 3 (130-150 cM), 4 (140-170 cM), 6 (70-100 cM), 18 (110 cM), and 21 (30-50 cM). The most significant multipoint linkage results (HLOD > or =2.0; alpha=0.37) were for chromosomes 3q and 4q. Associations with P< or =.05 were found for loci on chromosomes 3, 5-7, 9, 11, 12, 16, 20, and 21. The most significant association result (P=.009) was found with D16S769 (51 cM).


Asunto(s)
Cromosomas Humanos Par 3 , Cromosomas Humanos Par 4 , Labio Leporino/genética , Fisura del Paladar/genética , Ligamiento Genético , Genoma Humano , China , Mapeo Cromosómico , Femenino , Humanos , Escala de Lod , Masculino , Modelos Genéticos , Linaje
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