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2.
Hua Xi Kou Qiang Yi Xue Za Zhi ; 42(5): 636-643, 2024 Oct 01.
Artículo en Inglés, Chino | MEDLINE | ID: mdl-39304507

RESUMEN

OBJECTIVES: This study aims to obtain a three-dimensional reconstruction model based on magnetic resonance imaging (MRI) data of patients with different degrees of unilateral cleft lip and analyze the anatomy and changes in multiple groups of nasolabial muscles under dynamic and static conditions. METHODS: One normal person and four adult patients with unilateral cleft lip were included, and MRI was performed under static (upper and lower lips closed naturally) and dynamic (pout and grin) conditions. 3D Slicer software was used to reconstruct the model and draw the anatomic morphology of nasolabial muscles. The distance between the junction (where the muscle merges into the orbicularis oris) of the levator muscle, zygomaticminor muscle, and zygomatic major muscle to the median sagittal plane, the starting point to the junction point, the dynamic and static junction points, and the angle between the connection of dynamic and static junctions and the horizontal plane were measured under three kinds of movements, and the ratio was calculated. RESULTS: In all patients, under dynamic and static conditions, the distance from the muscle junction to the median sagittal plane, their ratios of the cleft side to the non-cleft side were all greater than 1. While the ratio of the distance from the starting point of the muscle to the junction point is less than 1. At static conditions, the two ratios of the same muscle increased gradiently with the severity of the cleft, and the ratio of the zygomatic minor muscle was prominent in the same patient. The ratio of the cleft side to the non-cleft side was greater than 1, and the value for comparison was the angle of the line from the static to the dynamic junction and the horizontal plane. CONCLUSIONS: The symmetry of the insertion site of the orbicularis oris and the linear distance of both sides of the muscle are related to muscle and cleft types. The angle of muscle contraction on the cleft side is greater than that on the non-cleft side.


Asunto(s)
Labio Leporino , Músculos Faciales , Imagen por Resonancia Magnética , Humanos , Músculos Faciales/anatomía & histología , Labio/anatomía & histología , Imagenología Tridimensional , Adulto
3.
Clin Oral Investig ; 28(10): 539, 2024 Sep 21.
Artículo en Inglés | MEDLINE | ID: mdl-39304571

RESUMEN

BACKGROUND: Optimization of a modified rotation advancement technique is hampered by lack of objective measures to quantify the longitudinal surgical outcome. METHODS: We collected and assessed facial 3D images of 115 consecutive patients who underwent primary repair between 2017 and 2019. Photogrammetry was performed preoperatively, immediately postoperatively and at a first and second follow-up interval, occurring at an average year of 0.6 and 5.3 years, respectively. 10 additional age-matched noncleft control subjects were also included. RESULTS: Growth lag in cleft side lateral lip and gradual elongation of medial lip height on the cleft side caused continuous deviation of philtrum towards the cleft side. The columellar length on the cleft side continued to grow slower, accompanied by a persistent widening of alar base width on the cleft side, leading to in the gradual deviation of columella towards the cleft side. The pre-operative and post-operative nasolabial asymmetry would increase with greater degree of postoperative deficiencies. Right clefts presented with greater degrees of deficiencies in lateral lip height in preoperative measurement, but this discrepancy of the laterality of clefts was not observed in the two follow-up periods. CONCLUSION: The surgical outcome of this modified rotational advancement technique in unilateral cleft lip primary repair is promising. Growth lag in lateral lip and lateral displacement of alar base cause continuous deviation of philtrum towards the cleft side. Pre-operative severity does predict post-operative outcomes. Laterality of oral clefts does not significantly affect the long-term outcomes of surgery. PRACTICAL IMPLICATION: This surgical technique meets the current trend of cleft lip and palate primary repair and is worth promoting.


Asunto(s)
Labio Leporino , Fisura del Paladar , Imagenología Tridimensional , Fotogrametría , Humanos , Labio Leporino/cirugía , Labio Leporino/diagnóstico por imagen , Fisura del Paladar/cirugía , Fisura del Paladar/diagnóstico por imagen , Femenino , Masculino , Fotogrametría/métodos , Imagenología Tridimensional/métodos , Lactante , Resultado del Tratamiento , Preescolar , Procedimientos de Cirugía Plástica/métodos , Rotación , Estudios de Casos y Controles , Niño
6.
Pan Afr Med J ; 48: 50, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39280827

RESUMEN

Introduction: the objective of this study was to determine the quality of life (QoL) of the patient with a cleft lip or palate scheduled for surgery. Methods: this analytic multicenter cross-sectional study involved six participating Smile Train Partner Hospitals from five geopolitical zones of the country and three major ethnic groups. Patients with cleft lip or cleft palate aged between 8 to 29 years scheduled for repair were recruited. The main outcome measure was quality of life scores as measured by cleft Q. Results: thirty-four (females 18, males 16) patients were scheduled for surgery of either cleft lip n=7 (20.6%) or cleft palate n=27 (79.4). Patients scheduled for primary surgeries were more than those for secondary surgeries, 23 (68.7%) vs 10 (30.3%). Of the QoL scales, the speech distress score was the least (56.0 ± 22.6) and the psychological score highest (73.9 ± 15.8). All QoL mean scores except the psychological score fell below normative cleft Q scores. The psychological scores in males (80.9 ± 16.2) were significantly higher than in females (67.7 ± 12.9, p=0.01). Patients for lip repair had lower psychological scores than those for palatal repair (median=59 vs 73, p=0.01). Patients for palate repair demonstrated significantly lower speech function and distress scores than those for lip repair (p=0.01, p<0.01 respectively). Conclusion: most of the QoL measures in patients with cleft lip and palate in this study fell below normative values. Gender and cleft type affect the quality of life. A larger study is recommended to establish national normative data.


Asunto(s)
Labio Leporino , Fisura del Paladar , Calidad de Vida , Humanos , Labio Leporino/cirugía , Fisura del Paladar/cirugía , Estudios Transversales , Masculino , Femenino , Proyectos Piloto , Adolescente , Nigeria , Niño , Adulto , Adulto Joven , Factores Sexuales , Periodo Preoperatorio
7.
JAMA Netw Open ; 7(9): e2428077, 2024 Sep 03.
Artículo en Inglés | MEDLINE | ID: mdl-39264632

RESUMEN

Importance: Cleft lip or palate is a prevalent birth defect, occurring in approximately 1 to 2 per 1000 newborns and often necessitating numerous hospitalizations. Specific rates of hospitalization and complication are underexplored. Objective: To assess the rates of airway infection-associated hospitalization, overall hospital admissions, in-hospital complications, and mortality among children with a cleft lip or palate. Design, Setting, and Participants: This nationwide, population-based cohort study used in-hospital claims data from the Federal Statistical Office in Switzerland between 2012 and 2021. Participants included newborns with complete birth records born in a Swiss hospital. Data were analyzed from March to November 2023. Exposure: Prevalent diagnosis of a cleft lip or palate at birth. Main Outcomes and Measures: Outcomes of interest were monthly hospitalization rates for airway infections and any cause during the first 2 years of life in newborns with cleft lip or palate. In-hospital outcomes and mortality outcomes were also assessed, stratified by age and modality of surgical intervention. Results: Of 857 806 newborns included, 1197 (0.1%) had a cleft lip and/or palate, including 170 (14.2%) with a cleft lip only, 493 (41.2%) with a cleft palate only, and 534 (44.6%) with cleft lip and palate. Newborns with cleft lip or palate were more likely to be male (55.8% vs 51.4%), with lower birth weight (mean [SD] weight, 3135.6 [650.8] g vs 3284.7 [560.7] g) and height (mean [SD] height, 48.6 [3.8] cm vs 49.3 [3.2] cm). During the 2-year follow-up, children with a cleft lip or palate showed higher incidence rate ratios (IRRs) for hospitalizations due to airway infections (IRR, 2.33 [95% CI, 1.98-2.73]) and for any reason (IRR, 3.72 [95% CI, 3.49-3.97]) compared with controls. Additionally, children with cleft lip or palate had a substantial increase in odds of mortality (odds ratio [OR], 17.97 [95% CI, 11.84-27.29]) and various complications, including the need for intubation (OR, 2.37 [95% CI, 1.95-2.87]), extracorporeal membrane oxygenation (OR, 2.89 [95% CI, 1.81-4.63]), cardiopulmonary resuscitation (OR, 3.25 [95% CI, 2.21-4.78]), and respiratory support (OR, 1.94 [95% CI, 1.64-2.29]). Conclusions and Relevance: In this nationwide cohort study, the presence of cleft lip or palate was associated with increased hospitalization rates for respiratory infections and other causes, as well as poorer in-hospital outcomes and greater resource use.


Asunto(s)
Labio Leporino , Fisura del Paladar , Hospitalización , Infecciones del Sistema Respiratorio , Humanos , Labio Leporino/epidemiología , Labio Leporino/complicaciones , Fisura del Paladar/epidemiología , Fisura del Paladar/complicaciones , Masculino , Femenino , Hospitalización/estadística & datos numéricos , Recién Nacido , Lactante , Infecciones del Sistema Respiratorio/epidemiología , Suiza/epidemiología , Estudios de Cohortes , Mortalidad Hospitalaria , Preescolar
8.
BMC Oral Health ; 24(1): 1032, 2024 Sep 03.
Artículo en Inglés | MEDLINE | ID: mdl-39227941

RESUMEN

BACKGROUND: This study evaluates a three-dimensional (3D) visualisation design combined with customized surgical guides to assist anterior maxillary segmental distraction osteogenesis (AMSDO) in correcting maxillary hypoplasia in adolescents with cleft lip and palate (CLP), focusing on treatment outcomes, satisfaction and the validity of 3D planning. METHODS: This retrospective cohort study was conducted at a single hospital in China. Between January 2020 and December 2023, 12 adolescents with CLP with maxillary hypoplasia were included. An advanced 3D simulation was used to convey the treatment strategy to the patients and their families. A customized surgical guide and distraction osteogenesis device were designed. Cephalometric analysis evaluated AMSDO changes and long-term stability. Patient satisfaction was assessed. The Chinese version of the Child Oral Health Impact Profile was used to evaluate the children's oral health-related quality of life before and after treatment. The postoperative outcomes were compared with the planned outcomes by superimposing the actual postoperative data onto the simulated soft tissue models and calculating the linear and angular differences between them. RESULTS: One patient experienced postoperative gingivitis, yielding an 8.33% complication rate. Most patients (83.33%) were highly satisfied with the target position, with the rest content. Cephalometric analysis showed significant improvements in various indices post-traction. Quality-of-life scores significantly improved post-treatment. The discrepancies in facial soft tissue between the simulated and actual results were within clinically satisfactory ranges. CONCLUSIONS: Digitally designed surgical guides effectively treat maxillary hypoplasia in adolescents with CLP, ensuring stability, reducing complications, reducing dependency on operator experience, and enhancing satisfaction and health outcomes. Although the simulated results were clinically acceptable, it is important to inform patients of potential variations in the predicted soft tissue.


Asunto(s)
Labio Leporino , Fisura del Paladar , Imagenología Tridimensional , Maxilar , Osteogénesis por Distracción , Humanos , Labio Leporino/cirugía , Labio Leporino/complicaciones , Adolescente , Fisura del Paladar/cirugía , Fisura del Paladar/complicaciones , Osteogénesis por Distracción/métodos , Estudios Retrospectivos , Femenino , Masculino , Maxilar/anomalías , Maxilar/cirugía , Imagenología Tridimensional/métodos , Resultado del Tratamiento , Satisfacción del Paciente , Cefalometría , Calidad de Vida , Niño
9.
Angle Orthod ; 94(4): 448-454, 2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-39229949

RESUMEN

OBJECTIVES: To evaluate the effects of bone-anchored maxillary protraction (BAMP) treatment and longterm stability in growing cleft lip and palate and isolated cleft palate (CLP/CP) patients with mild maxillary hypoplasia and to compare maxillary growth patterns of BAMP-treated patients to matched control CLP/CP patients. MATERIALS AND METHODS: Ten patients with CLP/CP were treated with BAMP; they were compared to the maxillary growth pattern of 10 age-matched cleft control patients with no maxillary protraction treatment, who later received surgical Le Fort I maxillary advancement after the growth period. The assessment of maxillary growth and the occlusion started at mean 8 years of age and continued until mean 18 years of age. RESULTS: The use of BAMP orthopedic traction changed the growth pattern of mild hypoplastic maxilla toward a more anterior direction and advanced the face even above the level of Le Fort lll with only a minor effect on dentoalveolar units. The correction of occlusion and facial convexity were stable in the long term. CONCLUSIONS: The using BAMP may improve the position of the maxilla relative to the anterior cranial base for the correction of mild maxillary hypoplasia in adolescent patients with CLP/CP. The achieved results are rather stable in the long term.


Asunto(s)
Labio Leporino , Fisura del Paladar , Maxilar , Humanos , Fisura del Paladar/terapia , Labio Leporino/terapia , Estudios de Casos y Controles , Niño , Masculino , Maxilar/crecimiento & desarrollo , Maxilar/anomalías , Femenino , Estudios de Seguimiento , Adolescente , Métodos de Anclaje en Ortodoncia/métodos , Desarrollo Maxilofacial , Técnica de Expansión Palatina , Cefalometría , Osteotomía Le Fort/métodos , Resultado del Tratamiento
10.
Angle Orthod ; 94(4): 441-447, 2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-39229954

RESUMEN

OBJECTIVES: To compare upper airway changes following bimaxillary surgery for correction of Class III deformity between patients with unilateral cleft lip and palate (UCLP) and bilateral cleft lip and palate (BCLP) and to compare the preoperative and postoperative upper airway among patients with UCLP and BCLP to healthy controls. MATERIALS AND METHODS: Sixty adults with CLP-related skeletal Class III deformity (30 UCLP and 30 BCLP) who consecutively underwent bimaxillary surgery were studied retrospectively. Cone-beam computed tomography (CBCT) was performed before and after surgery to measure upper airway and movements of facial skeletal and surrounding structures. CBCT images from 30 noncleft skeletal Class I adults, matched by age, gender, and body mass index and without surgical intervention, served as controls. RESULTS: After surgery, the volume of the nasopharynx increased in patients with CLP (both P < .001). Patients with CLP did not differ from controls in postoperative volume of the nasopharynx or oropharynx. However, the nasal cavity differed significantly between patients with CLP and controls (P < .001). CONCLUSIONS: After bimaxillary surgery, the nasal cavity of patients with CLP differed significantly compared with the controls. Volumes of the nasopharynx and oropharynx did not differ between patients with CLP after surgery and controls.


Asunto(s)
Labio Leporino , Fisura del Paladar , Tomografía Computarizada de Haz Cónico , Maloclusión de Angle Clase III , Maxilar , Nasofaringe , Humanos , Femenino , Masculino , Tomografía Computarizada de Haz Cónico/métodos , Fisura del Paladar/cirugía , Fisura del Paladar/diagnóstico por imagen , Labio Leporino/cirugía , Labio Leporino/diagnóstico por imagen , Maloclusión de Angle Clase III/cirugía , Maloclusión de Angle Clase III/diagnóstico por imagen , Estudios Retrospectivos , Adulto , Nasofaringe/diagnóstico por imagen , Maxilar/cirugía , Maxilar/diagnóstico por imagen , Procedimientos Quirúrgicos Ortognáticos/métodos , Orofaringe/diagnóstico por imagen , Adulto Joven , Cavidad Nasal/diagnóstico por imagen , Estudios de Casos y Controles , Adolescente , Resultado del Tratamiento
11.
Int J Mol Sci ; 25(17)2024 Aug 28.
Artículo en Inglés | MEDLINE | ID: mdl-39273256

RESUMEN

Cleft lip and/or palate (CL/P) are the most common congenital anomalies in the craniofacial region, leading to morphological and functional disruptions in the facial region. Their etiology involves genetic and environmental factors, with genetics playing a crucial role. This study aimed to investigate the association of four single nucleotide polymorphisms (SNPs)-rs987525, rs590223, rs522616, and rs4714384-with CL/P in the Polish population. We analyzed DNA samples from 209 individuals with CL/P and 418 healthy controls. The impact of SNPs on the presence of CL/P was assessed using multivariate logistic regression. Significant associations were found with rs987525. Specifically, the AC genotype was linked to an increased CL/P risk (odds ratio [OR] = 1.95, 95% confidence interval [CI]: 1.34-2.83, p < 0.001), while the CC genotype was associated with a decreased risk (OR = 0.46, 95% CI: 0.32-0.67, p < 0.001). Rs4714384 was also significant, with the CT genotype correlated with a reduced risk of CL/P (OR = 0.66, 95% CI: 0.46-0.94, p = 0.011). SNPs rs590223 and rs522616 did not show statistically significant associations. These results underscore the role of rs987525 and rs4714384 in influencing CL/P risk and suggest the utility of genetic screening in understanding CL/P etiology.


Asunto(s)
Labio Leporino , Fisura del Paladar , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple , Humanos , Labio Leporino/genética , Labio Leporino/epidemiología , Fisura del Paladar/genética , Fisura del Paladar/epidemiología , Polonia/epidemiología , Femenino , Masculino , Genotipo , Estudios de Casos y Controles , Frecuencia de los Genes , Oportunidad Relativa
12.
J Clin Pediatr Dent ; 48(5): 86-94, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39275824

RESUMEN

To comparatively assess the periodontal condition and oral hygiene of children and adolescents at different ages presenting with different types of orofacial clefts (OFCs). A total of 1608 patients aged 6-18 years who had not previously undergone periodontal treatment were enrolled in this study. Participants were categorized into two age groups: 6-12 years (Group I) and 13-18 years (Group II). Participants in both age groups were further classified into one of the three OFC-type subgroups: cleft lip only (without or with alveolar cleft), cleft lip and cleft palate, and cleft palate only. Periodontal health was determined by evaluating plaque formation and gingival status with reference to the Silness and Loe plaque index (PI), Loe gingival index (GI), and community periodontal index (CPI). Periodontal health and oral hygiene were not significantly different between Groups I and II for cleft type (p > 0.05). A significant difference was not observed in PI for cleft type among the groups (p > 0.05). In Group II, GI and CPI were significantly higher than in Group I (p < 0.05). According to our results, cleft type does not influence periodontal health of children and adolescents with OFCs. Age, however, influences periodontal diseases' prevalence and severity.


Asunto(s)
Labio Leporino , Fisura del Paladar , Índice de Placa Dental , Higiene Bucal , Enfermedades Periodontales , Índice Periodontal , Humanos , Labio Leporino/complicaciones , Fisura del Paladar/complicaciones , Adolescente , Niño , Masculino , China/epidemiología , Femenino , Factores de Edad , Placa Dental
13.
Wiad Lek ; 77(7): 1364-1371, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39241134

RESUMEN

OBJECTIVE: Aim: To determine the state of dental health and the state of systemic immunity in patients in congenital cleft lip and palate patients. PATIENTS AND METHODS: Materials and Methods: The dental status and immunologic tests of 74 patients age 8-18 years old with congenital cleft lip and palate was analyzed: 43 children with unilateral and 31 children with bilateral complete combined cleft lip, alveolar process, hard and soft palate. RESULTS: Results: Indicators of the prevalence and intensity of the caries process in patients with congenital congenital complete cleft lip, alveolar process, hard and soft palate were high, especially in children with bilateral cleft lip and palate - the decompensated course of caries was determined in 41.93% patients, with unilateral - 23.25%. Сhronic catarrhal gingivitis was the most common in both groups of patients - the average severity of gingivitis prevailed - 51.16% with congenital unilateral cleft lip and palate and 51.61% - with bilateral. Atopic cheilitis, glossitis and chronic recurrent aphthous stomatitis were common. This patients have significant changes in the cellular chain of the immune system with a deficiency of the main phenotypes of lymphocytes - CD4+ CD8+ and inflammatory bacterial changes in blood serum. CONCLUSION: Conclusions: Patients of unilateral and bilateral complete combined cleft lip, alveolar process, hard and soft palate have significant changes in the dental status and in the cellular chain of the immune system. The level of manifestation of these changes is directly proportional to the extent of localization of the pathology - unilateral or bilateral.


Asunto(s)
Labio Leporino , Fisura del Paladar , Humanos , Labio Leporino/inmunología , Fisura del Paladar/inmunología , Masculino , Femenino , Adolescente , Niño , Caries Dental/inmunología
15.
Ital J Pediatr ; 50(1): 152, 2024 Aug 21.
Artículo en Inglés | MEDLINE | ID: mdl-39169438

RESUMEN

BACKGROUD: A systematic analysis was conducted to investigate the molecular etiology of fetal cleft lip and/or palate (CL/P) and the association between various types of CL/P and copy number variations (CNVs), as well as their impact on birth outcomes. METHODS: In this retrospective study conducted between January 2016 and July 2022, a cohort of pregnancies diagnosed with fetal CL/P was enrolled and comprehensive clinical data for all cases were extracted from our medical record database, including demographic data about the pregnancies, ultrasound findings, results of Chromosomal microarray (CMA), as well as relevant pregnant and perinatal outcomes. RESULTS: Among the 358 cases, 32 clinically significant variants in 29 (8.1%) fetuses with CL/P were detected by CMA. In 338 singleton pregnancies, the diagnostic yield of CMA in the context of CL/P fetuses was determined to be 7.7% (26/338). CP cases exhibited a relatively higher prevalence of pathogenic/likely pathogenic CNVs at a rate of 25% (3/12), followed by CLP cases at 8.0% (23/288). Notably, the CL group did not demonstrate any pathogenic/likely pathogenic CNV findings among the examined cases (0/38). The diagnostic rate of clinically significant variants was notably higher in the non-isolated CL/P group than in the isolated CL/P group (11/33, 33.3% vs. 15/305, 4.9%, p < 0.001). Within the remaining 20 twin pregnancies, three clinically significant variants (15%) were observed. CONCLUSIONS: This study provides powerful evidence supporting the efficacy of CMA as a valuable tool for facilitating the prenatal genetic diagnosis of fetal CL/P. The presence of CP and CLP in fetal cases demonstrated a relatively higher incidence of pathogenic/likely pathogenic CNVs. Moreover, when these cases were accompanied by additional ultrasound abnormalities, the likelihood of identifying diagnostic CNVs significantly increased. Conversely, cases of CL alone might not be associated with positive CNVs. The present data may significantly enhance prenatal diagnosis accuracy and facilitate informed genetic counseling for cases of fetal CL/P.


Asunto(s)
Labio Leporino , Fisura del Paladar , Variaciones en el Número de Copia de ADN , Ultrasonografía Prenatal , Humanos , Labio Leporino/genética , Labio Leporino/diagnóstico por imagen , Femenino , Estudios Retrospectivos , Fisura del Paladar/genética , Fisura del Paladar/diagnóstico por imagen , Embarazo , China/epidemiología , Adulto , Centros de Atención Terciaria , Pueblos del Este de Asia
16.
Commun Biol ; 7(1): 1040, 2024 Aug 23.
Artículo en Inglés | MEDLINE | ID: mdl-39179789

RESUMEN

Orofacial cleft (OFC) is a common human congenital anomaly. Epithelial-specific RNA splicing regulators ESRP1 and ESRP2 regulate craniofacial morphogenesis and their disruption result in OFC in zebrafish, mouse and humans. Using esrp1/2 mutant zebrafish and murine Py2T cell line models, we functionally tested the pathogenicity of human ESRP1/2 gene variants. We found that many variants predicted by in silico methods to be pathogenic were functionally benign. Esrp1 also regulates the alternative splicing of Ctnnd1 and these genes are co-expressed in the embryonic and oral epithelium. In fact, over-expression of ctnnd1 is sufficient to rescue morphogenesis of epithelial-derived structures in esrp1/2 zebrafish mutants. Additionally, we identified 13 CTNND1 variants from genome sequencing of OFC cohorts, confirming CTNND1 as a key gene in human OFC. This work highlights the importance of functional assessment of human gene variants and demonstrates the critical requirement of Esrp-Ctnnd1 acting in the embryonic epithelium to regulate palatogenesis.


Asunto(s)
Fisura del Paladar , Isoformas de Proteínas , Proteínas de Unión al ARN , Pez Cebra , Animales , Pez Cebra/genética , Pez Cebra/embriología , Humanos , Proteínas de Unión al ARN/genética , Proteínas de Unión al ARN/metabolismo , Fisura del Paladar/genética , Fisura del Paladar/embriología , Ratones , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo , Labio Leporino/genética , Proteínas de Pez Cebra/genética , Proteínas de Pez Cebra/metabolismo , Empalme Alternativo , Línea Celular , Mutación
18.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 55(4): 932-938, 2024 Jul 20.
Artículo en Chino | MEDLINE | ID: mdl-39170012

RESUMEN

Objective: Congenital cleft lip and palate is a common birth defect that seriously affects the lives of the afflicted children and their families. Previously, no research has been done to investigate the pathogenic characteristics of cleft lip and palate among ethnic minorities, for example, Tibetans, a minority ethnic group with a large population in China. This study aims to investigate the relationship between the occurrence of cleft lip and palate in Tibetans and Han Chinese in western China and the distribution of ABO blood groups and Rh blood groups to provide a theoretical basis for the precise prevention and treatment of cleft lip and palate. Methods: In this study, statistics on Tibetan patients with cleft lip and palate, some Han patients with cleft lip and palate, and normal controls from western China were retrospectively collected. All participants were patients from West China Stomatology Hospital, Sichuan University. All patients with cleft lip and palate received treatment at the hospital between January 2016 and September 2023. The normal controls were outpatients or inpatients who did not have cleft lip and palate, and who received treatment at the hospital between January 2020 and October 2023. Information on the A, B, O, and AB blood groups and Rh positive and negative blood groups of the patients was collected and compared with that of the normal controls. The incidence of different phenotypes, including cleft lip alone, cleft palate alone, and cleft lip with cleft palate, in patients of blood groups A, B, O and AB were statistically analyzed by Chi-square test. Results: A total of 1227 Tibetan patients with cleft lip and palate, 4064 Han patients with cleft lip and palate, and 5360 normal controls were included in the study. Among all the patients with cleft lip and palate, 1863 had cleft lip alone, 1425 had cleft palate alone, and 2003 had cleft lip with cleft palate. The ABO blood group distribution of Tibetan patients with cleft lip and palate was characterized as O>B>A>AB, with Rh positive blood group accounting for 100%, blood type O accounting for 41.15%, and blood type B accounting for 30.64%. The blood group distribution of the Han patients with cleft lip and palate was characterized as O>A>B>AB, with Rh positive blood group accounting for 99.58%, blood type O accounting for 35.78%, and type A accounting for 30.54%. There was a significant difference in ABO blood groups between Tibetan and Han patients with cleft lip and palate (P<0.005), but no significant difference in Rh blood groups. The ABO blood group distribution of the Tibetan patients with cleft lip and palate showed an obvious difference from that of the control group, while those of the Han patients with cleft lip and cleft palate and the control group did not show obvious differences. In the analysis of the subtypes, it was found that the blood group distribution in the subtypes of cleft lip alone, cleft palate alone, and cleft lip with cleft palate in the Tibetan population was O>B>A>AB, while that in the Han Chinese population was O>A>B>AB. There were differences in blood group distribution between Tibetans and Hans of the subtypes of cleft lip alone and cleft lip with cleft palate (P<0.001), but there was no difference in blood group distribution in the population of cleft palate-only subtype. The proportion of blood type O in Tibetan patients with cleft lip and palate was significantly higher than that in the Han patients with cleft lip and palate. The blood group distribution of Tibetan patients with cleft lip and palate in Sichuan Province, Xizang Autonomous Region, and Qinghai Province was always O>B>A>AB. Tibetan patients from Shiqu County and Baiyu County, Ganzi Tibetan Autonomous Prefecture and Chaya County, Qamdo City were predominantly of blood type B, and those from other regions were mainly of blood type O. Conclusion: There were significant differences in the phenotype composition and ABO blood group distribution between the Tibetan and Han populations with cleft lip and palate in western China. The distribution of blood group O in the population with cleft lip and palate was higher than that in the normal population, and the same trend was observed for different phenotypes. However, differences between Tibetan and Han populations in ABO blood group distribution were only found in the phenotypes of cleft lip only and cleft lip with palate. Tibetans with blood type O are more prone to cleft lip deformity than Han people, and the effect in the phenotype of cleft lip with palate is less pronounced than that in the phenotype of cleft lip only.


Asunto(s)
Sistema del Grupo Sanguíneo ABO , Labio Leporino , Fisura del Paladar , Sistema del Grupo Sanguíneo Rh-Hr , Centros de Atención Terciaria , Humanos , Labio Leporino/sangre , Fisura del Paladar/sangre , Tibet/epidemiología , China/epidemiología , Estudios Retrospectivos , Centros de Atención Terciaria/estadística & datos numéricos , Femenino , Masculino , Etnicidad , Pueblo Asiatico , Niño
19.
BMC Oral Health ; 24(1): 960, 2024 Aug 17.
Artículo en Inglés | MEDLINE | ID: mdl-39153972

RESUMEN

BACKGROUND: Pattern of dental anomalies encountered in cleft patients shows subtle signs of genetic involvement. This study aimed to evaluate the prevalence and pattern of tooth agenesis and supernumerary teeth in Thai cleft population according to the cleft type. METHODS: Data collected from patients with cleft lip and palate, who had been treated at Tawanchai Cleft Center, Khon Kaen University, Thailand, available during year 2012-2022, were investigated. Records from 194 patients with non-syndromic clefts met the inclusion criteria. Standard dental records, and at least either orthopantomogram (OPG) or cone beam computed tomography (CBCT), were examined. Statistical analysis was performed using chi-square and binominal test (p ≤ 0.05). RESULTS: Prevalence of tooth agenesis was higher (77.3%) than that of supernumerary teeth (5.7%) and was more common in bilateral cleft lip and palate (BCLP) (88.1%) than in unilateral cleft lip and palate (UCLP) (72.6%) (p = 0.017). The upper lateral incisor was more frequently affected (46.4%), followed by the upper second premolar. The number of missing teeth observed on the left side was significantly higher. Patients with left UCLP (ULCLP) had the highest prevalence of tooth agenesis. A total of 41 tooth agenesis code (TAC) patterns was found. The prevalence of supernumerary teeth was comparable with 6.6% of ULCLP, 5.1% of BCLP, and 4.5% of URCLP. Tooth-number anomalies were observed more often in the BCLP and were most likely to occur on the left side of the maxilla. Both types of anomalies could be featured in a small proportion of cleft patients. CONCLUSIONS: More than half of the patients with non-syndromic cleft lip and palate in this study, presented with tooth-number anomalies. Tooth agenesis was approximately 10-time more prevalent than supernumerary teeth. Tooth agenesis was likely to appear on the left-side of the maxilla regardless of the laterality of the cleft.


Asunto(s)
Anodoncia , Labio Leporino , Fisura del Paladar , Tomografía Computarizada de Haz Cónico , Diente Supernumerario , Humanos , Labio Leporino/epidemiología , Fisura del Paladar/epidemiología , Diente Supernumerario/epidemiología , Diente Supernumerario/diagnóstico por imagen , Tailandia/epidemiología , Prevalencia , Masculino , Femenino , Anodoncia/epidemiología , Anodoncia/diagnóstico por imagen , Adolescente , Niño , Radiografía Panorámica , Adulto Joven , Pueblos del Sudeste Asiático
20.
J Plast Reconstr Aesthet Surg ; 97: 41-49, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39137523

RESUMEN

BACKGROUND: Standardization of surgical protocols is an evolving issue owing to the low incidence of rare craniofacial clefts. In this article, we present our surgical management technique for repair of rare craniofacial clefts and evaluate the postoperative results. METHODS: This study was conducted from 2013 to 2022 and included patients who presented with craniofacial clefts. The results were assessed based on parents' satisfaction and objective evaluations by two independent observers. RESULTS: A total of 3679 patients presented with cleft anomalies; of these, 61 patients with 89 rare craniofacial clefts were observed with a prevalence of 2.42/100. The male to female ratio was 1:1.35. Craniofacial cleft "4" and "5" were the most common, with 17 (19.1%) and 16 (17.98%) patients, respectively. Multiple craniofacial clefts were observed in 37.7% of the patients. Associated craniofacial anomalies were found in 39.34% of the patients. The parents of 71.6% of the patients were very satisfied with the results. Based on the scores of two independent observers, 70.27% of the patients showed good results. CONCLUSION: The rare nature of craniofacial clefts and involvement of various structures make the standardization of surgical procedures very challenging. Our experience with these clefts will help new surgeons both in didactics and in technical aspects of patient management. KEY POINTS: 1. We share our experience with rare craniofacial clefts. 2. Each cleft presents with its own unique reconstructive challenges. The literature describes many techniques for each type of cleft, all with multiple permutations. We present a simplified technique that has worked for us over the years for all Tessier clefts.


Asunto(s)
Labio Leporino , Fisura del Paladar , Procedimientos de Cirugía Plástica , Humanos , Masculino , Femenino , Fisura del Paladar/cirugía , Procedimientos de Cirugía Plástica/métodos , Labio Leporino/cirugía , Preescolar , Lactante , Niño , Satisfacción del Paciente , Protocolos Clínicos , Adolescente , Resultado del Tratamiento , Anomalías Craneofaciales/cirugía
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