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1.
J Oral Maxillofac Surg ; 75(11): 2411-2421, 2017 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-28648911

RESUMEN

PURPOSE: To evaluate pharyngeal airway space (PAS; nasopharyngeal, oropharyngeal, and total airway) volume and the correlation of an obstructive sleep apnea (OSA) and hypopnea syndrome screening questionnaire (STOP-BANG) with various mandibular setbacks during bimaxillary surgery and compare these findings with an age- and gender-matched skeletal Class I control group. PATIENTS AND METHODS: This retrospective cohort study was composed of patients with skeletal Class III discrepancy who underwent bimaxillary jaw surgery and were assessed with STOP-BANG score, cephalometry, and cone-beam computed tomography (of the PAS). The predictor variable was bimaxillary jaw surgery and included 4-, 6-, and 8-mm setbacks. The primary outcome variables were PAS volume, body mass index, and STOP-BANG score evaluated at 1 week before surgery and after comprehensive orthodontic treatment (11.25 ± 1.95 months). Other variables were grouped into the following categories: demographic and cephalometric parameters. Statistical intragroup and intergroup differences were assessed by paired t and independent t tests (P < .05), respectively. RESULTS: The study sample was composed of 48 patients (18 to 25 yr old); group I received 4-mm setback (n = 16), group II received 6-mm setback (n = 16), and group III received 8-mm setback (n = 16) mandibular surgery, and all test groups received 4-mm maxillary advancement. The entire study group was compared with a skeletal Class I control group (n = 16). The total PAS volume after orthodontic treatment in groups I and II showed a significant decrease compared with the presurgical PAS (P < .001), but the decrease was not less than that in the control group (P > .05). In contrast, the total PAS volume in group III after orthodontic treatment (23,574 ± 1,394 mm3) was less than that in the control group (23,884 ± 1,543 mm3). CONCLUSION: After surgery, patients with Class III discrepancy exhibited a decrease in oropharynx volume; however, the STOP-BANG score showed no change in risk factors scores for OSA at 4- to 8-mm setback surgery of the mandible in bimaxillary jaw surgery.


Asunto(s)
Tomografía Computarizada de Haz Cónico , Maloclusión de Angle Clase III/cirugía , Maxilar/cirugía , Faringe/diagnóstico por imagen , Complicaciones Posoperatorias/diagnóstico por imagen , Síndromes de la Apnea del Sueño/diagnóstico por imagen , Adolescente , Adulto , Estudios de Cohortes , Femenino , Humanos , Masculino , Procedimientos Quirúrgicos Ortognáticos/métodos , Complicaciones Posoperatorias/epidemiología , Estudios Retrospectivos , Medición de Riesgo , Autoinforme , Síndromes de la Apnea del Sueño/epidemiología , Adulto Joven
2.
Cleft Palate Craniofac J ; 54(5): 509-516, 2017 09.
Artículo en Inglés | MEDLINE | ID: mdl-27441696

RESUMEN

OBJECTIVE: To evaluate the pharyngeal airway space changes in complete unilateral cleft lip and palate (UCLP) and bilateral cleft lip and palate (BCLP) individuals, and compare with age and sex-matched noncleft (NC) control subjects. DESIGN: Retrospective study. SETTING: Cleft and Craniofacial Centre, KK Women's and Children's Hospital, Singapore. MATERIALS AND METHODS: Twenty UCLP (mean age: 13.4 ± 0.5 years), 18 BCLP (mean age: 13.5 ± 0.5 years) and 20 skeletal Class I subjects (mean age: 13.4 ± 0.6 years) were included in the study. Cone beam computed tomography scans were assessed for pharyngeal airway space (PAS) (oropharyngeal, nasopharyngeal, total airway space volume), and compared with PAS of age and sex-matched skeletal Class I NC individuals. RESULTS: Pharyngeal airway space showed statistically significant differences in the UCLP, BCLP, and NC control subjects. Oropharyngeal (9338 ± 1108 mm3, P < .05), nasopharyngeal (2911 ± 401 mm3, P < .05), and total airway space (12 250 ± 1185 mm3, P < .05) volumes of BCLP individuals showed significant reduction in comparison to UCLP and NC. There were no gender differences of PAS in any of the groups tested (P > .05). CONCLUSION: The pharyngeal airway space was significantly reduced in the BCLP group than were those in UCLP and control groups. This reduced PAS should be taken into account when planning treatment for these individuals.


Asunto(s)
Labio Leporino/diagnóstico por imagen , Fisura del Paladar/diagnóstico por imagen , Tomografía Computarizada de Haz Cónico , Maloclusión Clase I de Angle/diagnóstico por imagen , Faringe/anatomía & histología , Faringe/diagnóstico por imagen , Adolescente , Femenino , Humanos , Masculino , Estudios Retrospectivos
3.
Birth Defects Res A Clin Mol Teratol ; 103(10): 857-62, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26278207

RESUMEN

BACKGROUND: The forkhead box F2 gene (FOXF2) located in chromosome 6p25.3 has been shown to play a crucial role in palatal development in mouse and rat models. To date, no evidence of linkage or association has been reported for this gene in humans with oral clefts. METHODS: Allelic transmission disequilibrium tests were used to robustly assess evidence of linkage and association with nonsyndromic cleft lip with or without cleft palate for nine single nucleotide polymorphisms (SNPs) in and around FOXF2 in both Asian and European trios using PLINK. RESULTS: Statistically significant evidence of linkage and association was shown for two SNPs (rs1711968 and rs732835) in 216 Asian trios where the empiric P values with permutation tests were 0.0016 and 0.005, respectively. The corresponding estimated odds ratios for carrying the minor allele at these SNPs were 2.05 (95% confidence interval = 1.41, 2.98) and 1.77 (95% confidence interval = 1.26, 2.49), respectively. CONCLUSION: Our results provided statistical evidence of linkage and association between FOXF2 and nonsyndromic cleft lip with or without cleft palate.


Asunto(s)
Cromosomas Humanos Par 6/genética , Labio Leporino/genética , Fisura del Paladar/genética , Factores de Transcripción Forkhead/genética , Polimorfismo de Nucleótido Simple , Adulto , Animales , Pueblo Asiatico , Femenino , Humanos , Masculino , Ratones , Ratas
4.
Cleft Palate Craniofac J ; 52(5): 525-31, 2015 09.
Artículo en Inglés | MEDLINE | ID: mdl-25191867

RESUMEN

OBJECTIVE: We hypothesize that primary repair of submucous cleft palate (SMCP) with Furlow palatoplasty will not lead to significant differences in speech outcomes for syndromic and nonsyndromic children. DESIGN: Retrospective analysis of patients with primary Furlow repair of SMCP between 2004 and 2012. SETTING: Tertiary care center. PATIENTS/PARTICIPANTS: Thirty-four patients (15 boys; 44%) satisfied our inclusion criteria: multidisciplinary consensus on diagnosis of SMCP, failed trial of speech-language rehabilitation, at least 4 years old at the time of primary surgery, at least 6 months follow-up with a repeat set of postoperative speech assessments. INTERVENTIONS: Primary Furlow palatoplasty for SMCP. MAIN OUTCOME MEASURES: Primary outcomes were based on postoperative perceptual speech assessments and the need for revision surgery. Secondary outcomes included improvement in nasalance scores, postoperative complications, and change in and time to normalization of velar closing ratios. RESULTS: Mean age at surgery = 7.7 years. Of the patients, 17 (50%) were syndromic and 11 (32%) had associated hearing loss. Mean follow-up = 48 months. No patients had postoperative complications, such as wound dehiscence or fistula; however, two patients (one syndromic, one nonsyndromic) required secondary procedures. Velar closing ratios for all patients increased (P < .05) and approached normal at an average of 1.3 years postoperatively. CONCLUSIONS: Although the Furlow palatoplasty can correct anatomic anomalies, it cannot achieve normal perceptual resonance in syndromic patients, possibly because of inherent higher-order deficiencies that affect speech production. Further studies with greater patient numbers are necessary to achieve population statistical significance.


Asunto(s)
Fisura del Paladar/cirugía , Procedimientos de Cirugía Plástica , Preescolar , Femenino , Humanos , Masculino , Reoperación , Estudios Retrospectivos , Síndrome , Resultado del Tratamiento
5.
Genet Epidemiol ; 36(4): 392-9, 2012 May.
Artículo en Inglés | MEDLINE | ID: mdl-22508319

RESUMEN

In a recent genome-wide association study (GWAS) from an international consortium, evidence of linkage and association in chr8q24 was much stronger among nonsyndromic cleft lip/palate (CL/P) case-parent trios of European ancestry than among trios of Asian ancestry. We examined marker information content and haplotype diversity across 13 recruitment sites (from Europe, United States, and Asia) separately, and conducted principal components analysis (PCA) on parents. As expected, PCA revealed large genetic distances between Europeans and Asians, and a north-south cline from Korea to Singapore in Asia, with Filipino parents forming a somewhat distinct Southeast Asian cluster. Hierarchical clustering of SNP heterozygosity revealed two major clades consistent with PCA results. All genotyped SNPs giving P < 10(-6) in the allelic transmission disequilibrium test (TDT) showed higher heterozygosity in Europeans than Asians. On average, European ancestry parents had higher haplotype diversity than Asians. Imputing additional variants across chr8q24 increased the strength of statistical evidence among Europeans and also revealed a significant signal among Asians (although it did not reach genome-wide significance). Tests for SNP-population interaction were negative, indicating the lack of strong signal for 8q24 in families of Asian ancestry was not due to any distinct genetic effect, but could simply reflect low power due to lower allele frequencies in Asians.


Asunto(s)
Cromosomas Humanos Par 8 , Labio Leporino/genética , Fisura del Paladar/genética , Alelos , Pueblo Asiatico , Labio Leporino/complicaciones , Labio Leporino/etnología , Fisura del Paladar/complicaciones , Fisura del Paladar/etnología , Análisis por Conglomerados , Predisposición Genética a la Enfermedad , Genoma , Genotipo , Haplotipos , Heterocigoto , Humanos , Desequilibrio de Ligamiento , Modelos Genéticos , Análisis de Componente Principal , Población Blanca
6.
Eur J Oral Sci ; 121(2): 63-8, 2013 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-23489894

RESUMEN

As part of an international consortium, case-parent trios were collected for a genome-wide association study of isolated, non-syndromic oral clefts, including cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP). Non-syndromic oral clefts have a complex and heterogeneous etiology. Risk is influenced by genes and environmental factors, and differs markedly by gender. Family-based association tests (FBAT) were used on 14,486 single nucleotide polymorphisms (SNPs) spanning the X chromosome, stratified by type of cleft and racial group. Significant results, even after multiple-comparisons correction, were obtained for the Duchenne muscular dystrophy (DMD) gene, the largest single gene in the human genome, among CL/P (i.e., both CL and CLP combined) trios. When stratified into groups of European and Asian ancestry, stronger signals were obtained for Asian subjects. Although conventional sliding-window haplotype analysis showed no increase in significance, selected combinations of the 25 most significant SNPs in the DMD gene identified four SNPs together that attained genome-wide significance among Asian CL/P trios, raising the possibility of interaction between distant SNPs within the DMD gene.


Asunto(s)
Pueblo Asiatico/genética , Labio Leporino/genética , Fisura del Paladar/genética , Genes Ligados a X/fisiología , Marcadores Genéticos , Distrofia Muscular de Duchenne/genética , Población Blanca/genética , Adulto , Femenino , Estudio de Asociación del Genoma Completo/métodos , Haplotipos/genética , Haplotipos/fisiología , Humanos , Masculino , Polimorfismo de Nucleótido Simple , Análisis de Componente Principal , Riesgo
7.
J Craniofac Surg ; 24(3): e253-5, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-23714981

RESUMEN

Crouzon syndrome is a rare, autosomal dominant disease from a fibroblast growth factor receptor 2 gene mutation, characterized by premature craniosynostosis, hypertelorism, orbital proptosis, psittichorina, hypoplastic maxilla, and mandibular prognathism. We present an adult 32-year-old Crouzon syndrome patient who underwent an elective High Le Fort I and bilateral split sagittal osteotomy for midface advancement with a background of jaw malocclusion and obstructive respiratory symptoms. The operation features a potential dynamic movement of the secured airway in the surgical field and close proximity to exposed ocular structures. Permissive hypotensive anesthesia was employed to improve the surgical field and reduce intraoperative blood loss and dose of long-acting opioids. He was extubated at the end of an uneventful surgery and was monitored in the high dependency overnight before he was discharged to the general ward. Perioperative issues include potential difficult airway management; ocular, auditory, and neurological injury prevention; surgery-specific anesthetic technique; and postoperative analgesia. Understanding the multisystemic issues facilitates the dynamic anesthetic management during surgery. Good communication among the multidisciplinary team is essential to ensure a successful operation and uneventful recovery.


Asunto(s)
Disostosis Craneofacial/cirugía , Osteotomía Le Fort/métodos , Osteotomía Sagital de Rama Mandibular/métodos , Adulto , Manejo de la Vía Aérea/métodos , Obstrucción de las Vías Aéreas/cirugía , Analgesia Controlada por el Paciente , Anestésicos Intravenosos/administración & dosificación , Atracurio/administración & dosificación , Pérdida de Sangre Quirúrgica/prevención & control , Humanos , Hipotensión Controlada/métodos , Intubación Intratraqueal/métodos , Masculino , Maloclusión/cirugía , Morfina/uso terapéutico , Narcóticos/uso terapéutico , Fármacos Neuromusculares no Despolarizantes/administración & dosificación , Procedimientos Quirúrgicos Ortognáticos/métodos , Piperidinas/administración & dosificación , Prognatismo/cirugía , Remifentanilo
8.
Cleft Palate Craniofac J ; 50(1): 96-103, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-22074045

RESUMEN

Background : Isolated, nonsyndromic cleft lip with or without cleft palate is a common human congenital malformation with a complex and heterogeneous etiology. Genes coding for fibroblast growth factors and their receptors (FGF/FGFR genes) are excellent candidate genes. Methods : We tested single-nucleotide polymorphic markers in 10 FGF/FGFR genes (including FGFBP1, FGF2, FGF10, FGF18, FGFR1, FGFR2, FGF19, FGF4, FGF3, and FGF9) for genotypic effects, interactions with one another, and with common maternal environmental exposures in 221 Asian and 76 Maryland case-parent trios ascertained through a child with isolated, nonsyndromic cleft lip with or without cleft palate. Results : Both FGFR1 and FGF19 yielded evidence of linkage and association in the transmission disequilibrium test, confirming previous evidence. Haplotypes of three single-nucleotide polymorphisms in FGFR1 were nominally significant among Asian trios. Estimated odds ratios for individual single-nucleotide polymorphic markers and haplotypes of multiple markers in FGF19 ranged from 1.31 to 1.87. We also found suggestive evidence of maternal genotypic effects for markers in FGF2 and FGF10 among Asian trios. Tests for gene-environment (G × E) interaction between markers in FGFR2 and maternal smoking or multivitamin supplementation yielded significant evidence of G × E interaction separately. Tests of gene-gene (G × G) interaction using Cordell's method yielded significant evidence between single-nucleotide polymorphisms in FGF9 and FGF18, which was confirmed in an independent sample of trios from an international consortium. Conclusion : Our results suggest several genes in the FGF/FGFR family may influence risk for isolated, nonsyndromic cleft lip with or without cleft palate through distinct biological mechanisms.


Asunto(s)
Labio Leporino , Fisura del Paladar , Labio Leporino/genética , Haplotipos , Humanos , Desequilibrio de Ligamiento , Polimorfismo de Nucleótido Simple
9.
Genet Epidemiol ; 35(6): 469-78, 2011 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-21618603

RESUMEN

Nonsyndromic cleft palate (CP) is a common birth defect with a complex and heterogeneous etiology involving both genetic and environmental risk factors. We conducted a genome-wide association study (GWAS) using 550 case-parent trios, ascertained through a CP case collected in an international consortium. Family-based association tests of single nucleotide polymorphisms (SNP) and three common maternal exposures (maternal smoking, alcohol consumption, and multivitamin supplementation) were used in a combined 2 df test for gene (G) and gene-environment (G × E) interaction simultaneously, plus a separate 1 df test for G × E interaction alone. Conditional logistic regression models were used to estimate effects on risk to exposed and unexposed children. While no SNP achieved genome-wide significance when considered alone, markers in several genes attained or approached genome-wide significance when G × E interaction was included. Among these, MLLT3 and SMC2 on chromosome 9 showed multiple SNPs resulting in an increased risk if the mother consumed alcohol during the peri-conceptual period (3 months prior to conception through the first trimester). TBK1 on chr. 12 and ZNF236 on chr. 18 showed multiple SNPs associated with higher risk of CP in the presence of maternal smoking. Additional evidence of reduced risk due to G × E interaction in the presence of multivitamin supplementation was observed for SNPs in BAALC on chr. 8. These results emphasize the need to consider G × E interaction when searching for genes influencing risk to complex and heterogeneous disorders, such as nonsyndromic CP.


Asunto(s)
Fisura del Paladar/genética , Consumo de Bebidas Alcohólicas , Mapeo Cromosómico , Fisura del Paladar/inducido químicamente , Fisura del Paladar/etiología , Femenino , Interacción Gen-Ambiente , Estudio de Asociación del Genoma Completo , Genotipo , Humanos , Masculino , Exposición Materna , Modelos Genéticos , Padres , Polimorfismo de Nucleótido Simple , Embarazo , Riesgo , Vitaminas/uso terapéutico
10.
Am J Med Genet A ; 158A(4): 784-94, 2012 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-22419666

RESUMEN

We performed a genome wide association analysis of maternally-mediated genetic effects and parent-of-origin (POO) effects on risk of orofacial clefting (OC) using over 2,000 case-parent triads collected through an international cleft consortium. We used log-linear regression models to test individual SNPs. For SNPs with a P-value <10(-5) for maternal genotypic effects, we also applied a haplotype-based method, TRIMM, to extract potential information from clusters of correlated SNPs. None of the SNPs were significant at the genome wide level. Our results suggest neither maternal genome nor POO effects play major roles in the etiology of OC in our sample. This finding is consistent with previous genetic studies and recent population-based cohort studies in Norway and Denmark, which showed no apparent difference between mother-to-offspring and father-to-offspring recurrence of clefting. We, however, cannot completely rule out maternal genome or POO effects as risk factors because very small effects might not be detectable with our sample size, they may influence risk through interactions with environmental exposures or may act through a more complex network of interacting genes. Thus, the most promising SNPs identified by this study may still be worth further investigation.


Asunto(s)
Labio Leporino/genética , Fisura del Paladar/genética , Anomalías Craneofaciales/genética , Labio Leporino/etiología , Fisura del Paladar/etiología , Estudios de Cohortes , Femenino , Genoma , Estudio de Asociación del Genoma Completo , Genotipo , Humanos , Masculino , Padres , Polimorfismo de Nucleótido Simple
11.
Eur J Med Genet ; 63(2): 103652, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-30986546

RESUMEN

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of short stature, microtia and absent or small patellae. We report on a patient with MGS secondary to biallelic mutations in CDC45 detected on whole exome sequencing (WES). Patients with MGS caused by mutations in CDC45 display a distinct phenotype characterized by craniosynostosis and anorectal malformation. Our patient had craniosynostosis, anorectal malformation and short stature, but did not have the microtia or patella hypoplasia. Our report also highlights the value of WES in aiding diagnosis of patients with rare genetic diseases. In conclusion, our case report and review of the literature illustrates the unique features of CDC45-related MGS as well as the benefits of WES in reducing the diagnostic odyssey for patients with rare genetic disorders.


Asunto(s)
Proteínas de Ciclo Celular/genética , Microtia Congénita/diagnóstico , Microtia Congénita/genética , Trastornos del Crecimiento/diagnóstico , Trastornos del Crecimiento/genética , Micrognatismo/diagnóstico , Micrognatismo/genética , Rótula/anomalías , Anomalías Múltiples/genética , Anomalías Múltiples/fisiopatología , Malformaciones Anorrectales/genética , Malformaciones Anorrectales/fisiopatología , Craneosinostosis/genética , Craneosinostosis/fisiopatología , Femenino , Trastornos del Crecimiento/congénito , Humanos , Mutación , Fenotipo , Enfermedades Raras/genética , Enfermedades Raras/fisiopatología , Secuenciación del Exoma
12.
Genet Epidemiol ; 32(6): 505-12, 2008 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-18357615

RESUMEN

Isolated cleft lip with or without cleft palate (CL/P) is among the most common human birth defects, with a prevalence around 1 in 700 live births. The Runt-related transcription factor 2 (RUNX2) gene has been suggested as a candidate gene for CL/P based largely on mouse models; however, no human studies have focused on RUNX2 as a risk factor for CL/P. This study examines the association between markers in RUNX2 and isolated, nonsyndromic CL/P using a case-parent trio design, while considering parent-of-origin effects. Case-parent trios from four populations (77 from Maryland, 146 from Taiwan, 35 from Singapore, and 40 from Korea) were genotyped for 24 single nucleotide polymorphisms (SNPs) in the RUNX2 gene. We performed the transmission disequilibrium test on individual SNPs. Parent-of-origin effects were assessed using the transmission asymmetry test and the parent-of-origin likelihood ratio test (PO-LRT). When all trios were combined, the transmission asymmetry test revealed a block of 11 SNPs showing excess maternal transmission significant at the P<0.01 level, plus one SNP (rs1934328) showing excess paternal transmission (P=0.002). For the 11 SNPs showing excess maternal transmission, odds ratios of being transmitted to the case from the mother ranged between 3.00 and 4.00. The parent-of-origin likelihood ratio tests for equality of maternal and paternal transmission were significant for three individual SNPs (rs910586, rs2819861, and rs1934328). Thus, RUNX2 appears to influence risk of CL/P through a parent-of-origin effect with excess maternal transmission.


Asunto(s)
Labio Leporino/genética , Fisura del Paladar/genética , Subunidad alfa 1 del Factor de Unión al Sitio Principal/genética , Impresión Genómica , Femenino , Marcadores Genéticos , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Patrón de Herencia , Corea (Geográfico) , Funciones de Verosimilitud , Desequilibrio de Ligamiento , Masculino , Maryland , Polimorfismo de Nucleótido Simple , Singapur , Taiwán
13.
Hum Genet ; 126(3): 385-94, 2009 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-19444471

RESUMEN

This study examined the association between markers in transforming growth factor alpha (TGFA) and isolated, non-syndromic cleft lip with/without palate (CL/P) using a case-parent trio design, considering parent-of-origin effects. We also tested for gene-environmental interaction with common maternal exposures, and for gene-gene interaction using markers in TGFA and another recognized causal gene, IRF6. CL/P case-parent trios from four populations (76 from Maryland, 146 from Taiwan, 35 from Singapore, and 40 from Korea) were genotyped for 17 single nucleotide polymorphisms (SNPs) in TGFA. The transmission disequilibrium test was used to test individual SNPs, and the parent-of-origin likelihood ratio test (PO-LRT) was used to assess parent-of-origin effects. We also screened for possible gene-environment interaction using PBAT, and tested for gene-gene interaction using conditional logistic regression models. When all trios were combined, four SNPs showed significant excess maternal transmission, two of which gave significant PO-LRT values [rs3821261: P = 0.004 and OR(imprinting) = 4.17; and rs3771475: P = 0.027 and OR(imprinting) = 2.44]. Haplotype analysis of these two SNPS also supported excess maternal transmission. We saw intriguing but suggestive evidence of G x E interaction for several SNPs in TGFA when either individual SNPs or haplotypes of adjacent SNPs were considered. Thus, TGFA appears to influence risk of CL/P through unconventional means with an apparent parent-of-origin effect (excess maternal transmission) and possible interaction with maternal exposures.


Asunto(s)
Labio Leporino/complicaciones , Labio Leporino/genética , Fisura del Paladar/complicaciones , Fisura del Paladar/genética , Factor de Crecimiento Transformador alfa/genética , Femenino , Genotipo , Humanos , Factores Reguladores del Interferón/genética , Desequilibrio de Ligamiento , Masculino , Exposición Materna , Modelos Genéticos , Padres , Polimorfismo de Nucleótido Simple , Mapeo de Interacción de Proteínas , Singapur
14.
Aesthetic Plast Surg ; 33(3): 336-9, 2009 May.
Artículo en Inglés | MEDLINE | ID: mdl-19089492

RESUMEN

BACKGROUND: This review sought to determine the efficacy of tissue sealants such as fibrin tissue adhesives and platelet-rich plasma in reducing postoperative drainage, ecchymosis, and edema after face-lift surgery. METHODS: The electronic databases MEDLINE (1966-May 2007) and EMBASE (1974-May 2007) and the Cochrane Central Register of Controlled Trials (CENTRAL) were searched for human studies, randomized controlled trials, controlled clinical trials, metaanalyses, and reviews of randomized controlled trials using the key words "fibrin tissue adhesive," "tissue sealant," "platelet-rich plasma," "face-lift," "rhytidoplasty," "rhytidectomy," and "facial plastic surgery." The search yielded 10 articles, only 3 of which met our inclusion criteria. The three studies were within-patient comparisons (patients acted as their own controls). RESULTS: Although not statistically significant, the pooled results showed a strong trend toward reduction in postoperative drainage at 24 h and ecchymosis with the use of tissue sealants compared with the control arm of the study. No difference in outcomes was observed between the tissue sealant and control arms of the study in terms of postoperative edema measurement. CONCLUSION: There was no statistically significant benefit from the use of tissue sealants in face-lift surgery. However, tissue sealants may be useful for patients at a high risk for hematoma and ecchymosis formation.


Asunto(s)
Adhesivo de Tejido de Fibrina , Plasma Rico en Plaquetas , Ritidoplastia , Equimosis/prevención & control , Edema/prevención & control , Exudados y Transudados/metabolismo , Hematoma/prevención & control , Humanos , Complicaciones Posoperatorias/prevención & control , Ensayos Clínicos Controlados Aleatorios como Asunto , Ritidoplastia/efectos adversos , Ritidoplastia/métodos
15.
Am J Med Genet A ; 146A(18): 2327-31, 2008 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-18688869

RESUMEN

Isolated cleft palate is among the most common human birth defects. The TCOF1 gene has been suggested as a candidate gene for cleft palate based on animal models. This study tests for association between markers in TCOF1 and isolated, nonsyndromic cleft palate using a case-parent trio design considering parent-of-origin effects. Case-parent trios from three populations (comprising a total of 81 case-parent trios) were genotyped for single nucleotide polymorphisms (SNPs) in the TCOF1 gene. We used the transmission disequilibrium test and the transmission asymmetry test on individual SNPs. When all trios were combined, the odds ratio for transmission of the minor allele, OR(transmission), was significant for SNP rs15251 (OR = 2.88, P = 0.007), as well as rs2255796 and rs2569062 (OR = 2.08, P = 0.03; OR = 2.43, P = 0.041; respectively) when parent of origin was not considered. The transmission asymmetry test also revealed one SNP (rs15251) showing excess maternal transmission significant at the P = 0.005 level (OR = 6.50). Parent-of-origin effects were assessed using the parent-of-origin likelihood ratio test on both SNPs and haplotypes. While the parent-of-origin likelihood ratio test was only marginally significant for this SNP (P = 0.136), analysis of haplotypes of rs2255796 and rs15251 suggested excess maternal transmission. Therefore, these data suggest TCOF1 may influence risk of cleft palate through a parent-of-origin effect.


Asunto(s)
Fisura del Paladar/genética , Impresión Genómica , Proteínas Nucleares/genética , Fosfoproteínas/genética , Polimorfismo de Nucleótido Simple , Distribución de Chi-Cuadrado , Fisura del Paladar/epidemiología , Femenino , Frecuencia de los Genes , Marcadores Genéticos , Haplotipos , Humanos , Funciones de Verosimilitud , Desequilibrio de Ligamiento , Masculino , Maryland/epidemiología , Factores de Riesgo , Singapur/epidemiología , Taiwán/epidemiología
16.
Int J Mol Med ; 21(6): 747-51, 2008 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-18506368

RESUMEN

Van der Woude syndrome is the most common cause of syndromic orofacial clefting. It is characterised by the presence of lip pits, cleft lip and/or cleft palate. It is transmitted in an autosomal dominant manner, with high penetrance and variable expressivity. Several mutations in the interferon regulatory factor 6 (IRF6) gene have been found in VWS families, suggesting that this gene is the primary locus. We screened for mutations in this gene in three families in our population. There was a recurrent nonsense mutation within exon 9 of the gene for a Malay family consisting of five affected members with different presentations. We also found a co-segregating rare polymorphism which would result in a non-synonymous change 23 bases downstream of the nonsense mutation. This polymorphism was present in <1% of the Malay subjects screened, but was not found among the Chinese and Indians in our population. For another family, a 396C-->T mutation (R45W in the DNA-binding domain) was found in the proband, although the possibility of a genetic defect elsewhere could not be excluded because his mother and twin sister (both unaffected) also had this variant. In the third case with complete absence of family history, a de novo deletion spanning the whole IRF6 gene was detected in the child with VWS. This case of haploinsufficiency caused disruption of orofacial development but not other organ systems as the child has no other medical or developmental abnormalities despite the deletion of at least five other genes.


Asunto(s)
Anomalías Múltiples/genética , Labio Leporino/patología , Fisura del Paladar/patología , Factores Reguladores del Interferón/genética , Mutación , Anomalías Múltiples/patología , Adulto , Secuencia de Bases , Niño , Mapeo Cromosómico/métodos , Análisis Mutacional de ADN , Proteínas de Unión al ADN/genética , Salud de la Familia , Femenino , Expresión Génica , Genes Dominantes , Variación Genética , Humanos , Labio/anomalías , Masculino , Datos de Secuencia Molecular , Linaje , Penetrancia , Polimorfismo de Nucleótido Simple , Síndrome
17.
Arch Plast Surg ; 45(4): 367-374, 2018 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-30037199

RESUMEN

BACKGROUND: This analysis presents patient-reported outcomes of breast augmentation procedures performed in Singapore using an inframammary fold incision and the "5 Ps" best practice principles for breast augmentation. These data are the first of their kind in Southeast Asian patients. METHODS: Through a retrospective chart review, patients who underwent primary breast augmentation with anatomical form-stable silicone gel breast implants using an inframammary fold incision were followed for ≥6 months postoperatively. The BREAST-Q Augmentation Module (scores standardized to 0 [worst] - 100 [best]) and Patient and Observer Scar Assessment Scale (POSAS; 1 [normal skin] to 10 [worst scar imaginable]) were administered. Responses were summarized using descriptive statistics. Patient-reported events were collected. RESULTS: Twenty-two Southeast Asian patients (mean age, 35.1 years) completed ≥1 postoperative BREAST-Q and POSAS assessment and were assessed 11 months to 5.5 years postoperatively. The mean postoperative BREAST-Q satisfaction with breasts and psychosocial well-being scores were 69.2 and 84.0, respectively. The mean POSAS score for their overall opinion of the scar was 4.2; the mean scores for all scar characteristics ranged from 1.2 to 4.2. Over 90% of patients (20/22) said that they would recommend the procedure. Patient complaints following surgery included anisomastia (possibly pre-existing; n=2), sensory loss at the nipple (n=2) or around the nipple (n=3), scarring (n=4), and slight capsular contracture (n=1). No patients required reoperation. CONCLUSIONS: Southeast Asian patients reported high long-term satisfaction scores on the BREAST-Q scale and with their scar characteristics following breast augmentation using an inframammary fold incision, and nearly all said they would recommend this procedure. No reoperations were necessary in patients assessed for up to 5.5 years postoperatively.

18.
Facial Plast Surg Clin North Am ; 14(1): 51-5, 2006 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-16466984

RESUMEN

Endoscopically assisted surgery has become an essential component in many fields of surgical specialties. The implementation of this technique to craniofacial and maxillofacial surgery is a recent development. Endoscopic approach to subcondylar mandible fractures has been established as reliable surgical method.


Asunto(s)
Endoscopía/métodos , Maxilar/anomalías , Maxilar/cirugía , Osteotomía Le Fort , Cadáver , Disección , Humanos , Osteotomía Le Fort/instrumentación
19.
Contemp Clin Dent ; 7(3): 386-90, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27630506

RESUMEN

Thorough planning and execution is the key for successful treatment of dentofacial deformity involving surgical orthodontics. Presurgical planning (paper surgery and model surgery) are the most essential prerequisites of orthognathic surgery, and orthodontist is the one who carries out this procedure by evaluating diagnostic aids such as crucial clinical findings and radiographic assessments. However, literature pertaining to step-by-step orthognathic surgical guidelines is limited. Hence, this article makes an attempt to provide an insight and nuances involved in the planning and execution. The diagnostic information revealed from clinical findings and radiographic assessments is integrated in the "paper surgery" to establish "surgical-plan." Furthermore, the "paper surgery" is emulated in "model surgery" such that surgical bite-wafers are created, which aid surgeon to preview the final outcome and make surgical movements that are deemed essential for the desired skeletal and dental outcomes. Skeletal complexities are corrected by performing "paper surgery" and an occlusion is set up during "model surgery" for the fabrication of surgical bite-wafers. Further, orthodontics is carried out for the proper settling and finishing of occlusion. Article describes the nuances involved in the treatment of Class III skeletal deformity individuals treated with orthognathic surgical approach and illustrates orthodontic-orthognathic step-by-step procedures from "treatment planning" to "execution" for successful management of aforementioned dentofacial deformity.

20.
Arch Plast Surg ; 41(1): 77-80, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24511499

RESUMEN

We report a case of sternal reconstruction using bilateral sternal bar turnover flaps in a 4-year-old boy with an inferior sternal cleft, as part of Cantrell's pentad. When the patient was 10 months old, he underwent sternal reconstruction using a resorbable poly-L-lactic-polyglycolic acid plate in the first stage when there was insufficient autogenous tissue to provide a reliable reconstruction. Bilateral sternal bar turnover was performed in the second stage at 4 years of age. This operative technique is described in this report. This novel technique provides a robust, dynamic, and reliable reconstruction for inferior sternal defects.

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