Exploring the role of the WNT5A rs566926 polymorphism and its interactions in non-syndromic orofacial cleft: a multicenter study in Brazil

Abstract Associations between the WNT5A rs566926 variant and non-syndromic orofacial cleft (NSOC) have been reported in different populations. Objective This study aimed to investigate the role of the rs566926 single nucleotide polymorphism (SNP) in WNT5A and its interactions with SNPs in BMP4, FGFR1, GREM1, MMP2, and WNT3 in the occurrence of NSOC in a Brazilian population. Methodology A case-control genetic association study was carried out involving participants from four regions of Brazil, totaling 801 patients with non-syndromic cleft lip with or without cleft palate (NSCL±P), 273 patients with cleft palate only (NSCPO), and 881 health volunteers without any congenital condition (control). Applying TaqMan allelic discrimination assays, we evaluated WNT5A rs566926 in an ancestry-structured multiple logistic regression analysis, considering sex and genomic ancestry as covariates. Interactions between rs566926 and variants in genes involved in the WNT5A signaling pathway (BMP4, FGFR1, GREM1, MMP2, and WNT3) were also explored. Results WNT5A rs566926 was significantly associated with an increased risk of NSCL±P, particularly due to a strong association with non-syndromic cleft lip only (NSCLO), in which the C allele increased the risk by 32% (OR: 1.32, 95% CI: 1.04-1.67, p=0.01). According to the proportions of European and African genomic ancestry, the association of rs566926 reached significant levels only in patients with European ancestry. Multiple interactions were detected between WNT5A rs566926 and BMP4 rs2071047, GREM1 rs16969681 and rs16969862, and FGFR1 rs7829058. Conclusion The WNT5A rs566926 polymorphism was associated with NSCL±P, particularly in individuals with NSCLO and high European ancestry. Epistatic interactions involving WNT5A rs566926 and variants in BMP4, GREM1, and FGFR1 may contribute to the risk of NSCL±P in the Brazilian population.

Epidemiologic profile and prevalence of live births with orofacial cleft in Brazil: a descriptive study / Perfil epidemiológico e prevalência de nascidos vivos com fissura orofacial no Brasil: um estudo descritivo

ABSTRACT Objective: To describe the epidemiological profile and prevalence of live births with orofacial clefts in Brazil between 1999 and 2020. Methods: Descriptive study. The population corresponded to live births with isolated orofacial clefts in Brazil registered in the Live Birth Information System between 1999 and 2020. Descriptive variables were selected according to their availability and grouped into socioeconomic and demographic, maternal and child health care, and biological variables. Data were submitted to a descriptive analysis using the Software for Statistics and Data Science (STATA). Results: During the period, 33,699 children were born with orofacial clefts, and 82.1% (27,677) of them were isolated clefts. Regarding these cases, the majority were cleft lip and palate (9,619 or 34.7%), followed by cleft palate (9,442 or 34.1%), and by cleft lip (8,616 or 31.3%). Conclusions: Live births with orofacial clefts in Brazil were male, white, with birthweight ≥2,500 g and gestational age ≥37 weeks, born by cesarean section, and with Apgar scores ≥7. The cases were more frequent among mothers who were in their first and single pregnancy and had seven or more prenatal appointments. The mothers were 20 and 29 years old, had eight to ten years of study, and were single. The national prevalence of clefts was 4.24/10,000. The South and Southeast regions of Brazil had the highest prevalence, while the lowest prevalence was recorded in the Northeast and North regions. For the Federative Units, the highest and lowest prevalences were found, respectively, in Paraná and Acre.

RESUMO Objetivo: Descrever o perfil epidemiológico e a prevalência dos nascidos vivos com fissuras orofaciais no Brasil entre 1999 e 2020. Métodos: Estudo descritivo. A população correspondeu aos nascidos vivos com fissuras orofaciais isoladas no Brasil registrados no Sistema de Informação de Nascidos Vivos entre 1999 e 2020. As variáveis descritivas foram selecionadas de acordo com a sua disponibilidade e agrupadas em variáveis socioeconômicas e demográficas, de atenção à saúde materno-infantil e biológicas. Os dados foram submetidos a análise descritiva utilizando o Software for Statistics and Data Science (STATA). Resultados: No período, 33.699 indivíduos nasceram com fissura orofacial no Brasil, e 82,1% (27.677) deles foram fissuras isoladas. Com relação a esses casos, a maioria foi de fissuras de lábio e palato (9.619 ou 34,7%), seguidas por fissura de palato (9.442 ou 34,1%) e por fissura de lábio (8.616 ou 31,1%). Conclusões: O perfil epidemiológico dos nascidos vivos com fissuras orofaciais no Brasil foi de nascidos do sexo masculino, da raça/cor branca, por parto cesáreo, com peso ao nascer ≥2,500 g, idade gestacional ≥37 semanas e com índices de Apgar ≥7. Os casos foram mais frequentes entre mães que estavam na primeira gestação, única e que haviam realizado sete ou mais consultas de pré-natal. As mães, com maior frequência, tinham entre 20 e 29 anos, apresentavam oito ou mais anos de estudo, eram solteiras e residiam em cidades do interior. A prevalência nacional de fissuras foi de 4,24/10.000. As Regiões Sul e Sudeste apresentaram as maiores prevalências, enquanto as menores foram registradas nas Regiões Nordeste e Norte. Para as Unidades Federativas, as maiores e menores prevalências foram encontradas, respectivamente, no Paraná e no Acre.

Evaluation of facial pleasantness in patients with complete and unilateral cleft lip and palate rehabilitated and submitted to orofacial harmonization

ABSTRACT Objective: The objective of the present prospective case control study was to evaluate the facial pleasantness of patients with complete and unilateral cleft lip and palate at the end of interdisciplinary rehabilitation, submitted to facial fillers based on hyaluronic acid. Methods: The study group consisted of 18 individuals with complete unilateral cleft lip and palate, aged between 18 and 40 years (mean age 29 years) of both sexes. The patients presented a concave profile with mild to moderate maxillary deficiency, with completed orthodontic treatment and conducted by means of dentoalveolar compensations without orthognathic surgery. Participants underwent facial filling procedures with hyaluronic acid (HA) in the midface, inserted by a single operator. Standard photographs in frontal norm at rest, right profile at rest, and left profile at rest were obtained from each patient at the following operative times: (T1) pre-filler and (T2) and one-month post-filler. The photographs in T1 and T2 were randomly placed on a page of a virtual album. A 5-point Likert scale was used to assess facial pleasantness. The photographs were evaluated by two groups of evaluators consisting of 18 individuals with cleft lip and palate (CLPG=18) and 18 orthodontists with experience in the treatment of clefts (OG=18). For comparison between phases T1 and T2, and between evaluators with orofacial clefts and orthodontists, the Wilcoxon test was used (p<0,05). Results: People with cleft lip and palate rated their face as more pleasant after the midface filling procedure. In the perception of the orthodontists, on the other hand, the facial pleasantness remained similar after the facial filling procedure. Conclusions: The filling of the middle third of the face in patients with cleft lip and palate treated without orthognathic surgery increased the pleasantness of the face in the opinion of laypeople with cleft lip and palate.

RESUMO Objetivo: O objetivo do presente estudo caso-controle prospectivo foi avaliar a agradabilidade facial de pacientes com fissura labiopalatina completa e unilateral ao final da reabilitação interdisciplinar, submetidos a preenchimentos faciais à base de ácido hialurônico. Métodos: O grupo de estudo foi composto por 18 indivíduos com fissura labiopalatina unilateral completa, com idade entre 18 e 40 anos (média de 29 anos), de ambos os sexos. Os pacientes apresentavam perfil côncavo com deficiência maxilar leve a moderada, com tratamento ortodôntico concluído e realizado por meio de compensações dentoalveolares sem cirurgia ortognática. Os participantes foram submetidos a procedimentos de preenchimento facial com ácido hialurônico (AH) no terço médio da face, implantado por um único operador. Fotografias padrão em norma frontal em repouso, perfil direito em repouso e perfil esquerdo em repouso foram obtidas de cada paciente nos seguintes tempos operatórios: (T1) pré-preenchimento e (T2) um mês pós-preenchimento. As fotografias em T1 e T2 foram inseridas aleatoriamente em uma página de um álbum virtual. Uma escala Likert de 5 pontos foi utilizada para avaliar a agradabilidade facial. As fotografias foram avaliadas por dois grupos de avaliadores formados por 18 indivíduos com fissura labiopalatina (GFLP=18) e 18 ortodontistas com experiência no tratamento de fissuras (GO=18). Para comparação entre as fases T1 e T2, e entre avaliadores com fissura labiopalatina e ortodontistas, foi utilizado o teste de Wilcoxon (p<0,05). Resultados: As pessoas com fissura labiopalatina avaliaram seu rosto como mais agradável após o preenchimento do terço médio da face. Já na percepção do ortodontista, a agradabilidade facial permaneceu semelhante após o procedimento de preenchimento facial. Conclusões: O preenchimento do terço médio da face em pacientes com fissura labiopalatina tratados sem cirurgia ortognática aumentou a agradabilidade da face na opinião dos leigos com fissura labiopalatina.

Investigación en fisuras faciales: quo vadis España? / Investigation in facial fissures: quo vadis Spain?

Las fisuras orofaciales representan un grupo heterogéneo de malformaciones congénitas que afectan a distintas estructuras de la cavidad oral y de la cara. Globalmente, los bebés con estos trastornos presentan una mayor morbilidad y mortalidad a lo largo de su vida en comparación con individuos no afectados. Por ello, los avances en la investigación biomédica resultan ineludibles. Así, el objetivo general de este trabajo fue llevar a cabo una revisión bibliográfica para analizar narrativamente los 10 principales estudios primarios sobre fisuras orofaciales llevados a cabo en España, publicados del 2018 hasta la actualidad. Según esto, a nivel institucional, destaca la Universidad Complutense de Madrid (UCM) con cuatro artículos publicados por el grupo de investigación UCM 920202. También sobresale la Universidad Rey Juan Carlos de Madrid, con tres artículos relacionados con diferentes aspectos de la personalidad y la calidad de vida de los pacientes fisurados, así como otras muchas variables cognitivo-emocionales. En relación con la Universidad de Valencia, encontramos dos artículos llevados a cabo en amplias muestras de pacientes con fisuras. Por último, en Barcelona resulta destacable un estudio observacional sobre problemas otorrinolaringológicos en pacientes operados de fisura palatina. En conclusión, si bien en los últimos años se han publicado varios artículos sobre distintos aspectos relacionados con las fisuras, aún queda mucho trabajo por hacer. España debería seguir potenciando proyectos con líneas de trabajo centradas en estas alteraciones del desarrollo craneofacial. Se necesitan estudios amplios, multicéntricos y colaborativos, para ahondar en los mecanismos etiológicos y, en última instancia, en las posibles herramientas para su prevención. Del mismo modo, se necesitan ayudas para dilucidar mejor las cuestiones relacionadas con los tratamientos en todas las dimensiones de la salud, preferentemente a partir de ensayos clínicos controlados aleatorizados, que faciliten la traslación de conocimientos y su accesibilidad universal dentro del sistema sanitario público español.

SUMMARY: Orofacial clefts represent a heterogeneous group of congenital malformations affecting different structures of the oral cavity and face. Overall, infants with these disorders have a higher lifetime morbidity and mortality compared to unaffected individuals. Therefore, advances in biomedical research are unavoidable. Thus, the overall objective of this work was to conduct a literature review to narratively analyse the 10 main primary studies on orofacial clefts carried out in Spain, published from 2018 to date. According to this review, at an institutional level, the Complutense University of Madrid (UCM) is notable with 4 articles published by the UCM 920202 research group. The Rey Juan Carlos University of Madrid also stands out, with three papers related to different aspects of the personality and quality of life of cleft patients, as well as many other cognitive-emotional variables. In relation to the University of Valencia, we found two studies carried out on large samples of cleft patients. Finally, in Barcelona, an observational study on otorhinolaryngological problems in cleft palate patients is noteworthy. In conclusion, although several studies have been published in recent years on different aspects related to clefts, there is still much work to be done. Spain should craniofacial development. Large, multicenter and collaborative studies are needed to delve deeper into the aetiological mechanisms and, ultimately, into the possible tools for their prevention. Similarly, support is needed to better elucidate questions related to treatments in all dimensions of health, preferably randomised controlled clinical trials, which facilitate the transfer of knowledge and its universal accessibility within the Spanish public health system.

Evaluation of Anaesthetic Challenges in Primary Cleft Lip and Palate Surgeries in a Single Center Study

Background: One of the most prevalent congenital malformations and the most frequent craniofacial defects in children is cleft lip and palate. The aim of the study was to investigate the anaesthetic procedures employed and to determine the challenges and postoperative complications associated with cleft lip and palate surgery. Material & Methods: A retrospective review of the anaesthetic procedures carried out from January 2022 to December 2022 at the Dhaka Dental College and Hospital. The hospital records were reviewed in order to learn about every occurrence of orofacial cleft surgery. In this study, a total number of 120 cases were reviewed. Results: Among 120 cases, 53 (44.2%) of the patients were female and 67 (55.8%) were male. The bulk of patients came after their first year of life. About 54(45%) of them were younger than five years old. 68(56.67%) underwent cleft lip surgery, 37(30.83%) for cleft palate surgery and rest 15(12.5%) patients under went for combined cleft lip and cleft palate surgeries. Upper Respiratory Tract Infection (URTI) was reported as the most common pre-existing morbidity. Bronchospasm was the main intraoperative complications occurred in 8 (6.67%) of the cases with URTI. After surgey 6(5%) patients experienced bleeding, 3(2.5%) patients needed to be reintubated. In addition, 2 (1.67%) instances had trouble controlling their pain, only 1(0.83%) patient had trouble swallowing and 1(0.83%) recovered slowly. Conclusion: Anaesthesia for surgical repair of cleft lip or palate in children is challenging. After a thorough preoperative evaluation, a trained anaesthesiologist should administer anaesthesia under strict supervision to minimize postoperative complications.

Assessment of websites on cleft lip and palate in Brazilian Portuguese

ABSTRACT Purpose: this study aimed at assessing the legibility, reliability, usability and coverage of websites on cleft lip and/or palate (CL/P) in Brazilian Portuguese and providing a global comparison. Methods: in order to evaluate the obtained data, four protocols were used, i.e., the Website Coverage Protocol, the legibility (by means of the COH METRIX PORT), the reliability (Discern Protocol), and the usability (by means of the System Usability Scale). Results: 98 websites were included with average legibility scoring of 31.6±11.7, rated as a hard readability level. Coverage average scoring was 19.9±3.79 from a total of 35 points. As for reliability, average scoring was 43.2±6.51 points, rated as acceptable. The usability scoring was 24.8±2.18 points, rated as the worst imaginable one. Conclusion: therefore, the assessed Brazilian websites on CL/P were rated difficult for legibility, requiring high-school level of education, restricted coverage and acceptable reliability, in addition to the low usability. The results were similar to those of websites from other countries, except for the legibility aspect, which was lower for Brazilian websites.

Caracterización de pacientes con fisura labiopalatina

Introducción: Las fisuras labiopalatinas son los defectos congénitos más frecuentemente atendidas en los servicios de cirugía maxilofacial pediátricos. Estas aparecen precozmente en la vida intrauterina durante el período embrionario e inicio del período fetal. Objetivo: Examinar las características clínicas de pacientes con fisuras labiopalatinas. Métodos: Estudio descriptivo, retrospectivo y transversal. El universo de estudio quedó conformado por 91 historias clínicas de pacientes atendidos en el departamento de Cirugía Maxilofacial del Hospital Pediátrico Universitario "William Soler Ledea" en La Habana, entre 2015 y 2019. Las variables medidas fueron edad, sexo, tipo de fisura, defectos congénitos aislados y defectos congénitos múltiples. Resultados: Predominaron las féminas con 57,1 % y las edades menores de un año para el 54,9 %. Las fisuras palatinas aisladas se presentaron con mayor frecuencia (39,6 %) y las fisuras labiales del lado izquierdo se mostraron en 18 pacientes (32,7 %). El defecto congénito aislado más usual resultó la comunicación interventricular (4,4 %) y el defecto congénito múltiple resultó el síndrome de Goldenhar (5,5 %). Conclusiones: En los niños estudiados con fisuras labiopalatinas existió predominio del sexo femenino, fundamentalmente, en las niñas con menos de cinco años. La fisura palatina aislada resultó la más frecuente; un pequeño grupo de pacientes presentó defectos congénitos asociados, sobre todo cardiovasculares; y los defectos congénitos múltiples se vincularon con mayor frecuencia con las fisuras palatinas aisladas.

Introduction: Cleft lip and palate are the most frequently seen congenital defects in pediatric maxillofacial surgery services. They appear early in intrauterine life during the embryonic and early fetal period. Objective: To examine the clinical characteristics of patients with cleft lip and palate. Methods: Descriptive, retrospective and cross-sectional study. The study universe consisted of 91 clinical histories of patients attended at the Maxillofacial Surgery Department of "William Soler Ledea" University Pediatric Hospital in Havana, between 2015 and 2019. The variables measured were age, sex, type of cleft, isolated congenital defects and multiple congenital defects. Results: Females predominated with 57.1% and ages younger than one year (54.9%). Isolated cleft palates were more frequent (39.6%) and left-sided lip clefts were present in 18 patients (32.7%). The most usual isolated congenital defect was ventricular septal defect (4.4 %) and multiple congenital defect resulted in Goldenhar syndrome (5.5%). Conclusions: In the children studied with cleft lip and palate there was a predominance of the female sex, mainly in girls under five years of age. Isolated cleft palate was the most frequent; and small group of patients presented cleft palate defects.

Maternal consumption of caffeine and second-hand tobacco smoke as risk factors for the development of oral clefts

Abstract Objective The aim of this case-control study was to investigate environmental factors, such as caffeine, folic acid, nutritional iron supplementation, multivitamin complexes, alcohol, and tobacco (second-hand smoking), which have been described as risk factors for the development of oral clefts. Methods This case-control study employed convenience sampling and included 409 mothers: 132 with children with oral clefts (cases) and 277 with children without oral clefts (controls). The age range of the children in both groups was 0 to 2 years. A questionnaire was administered to each mother to inquire about their habits and food consumption during the first trimester of pregnancy. Results Folic acid supplementation was observed in 116 (87.8%) of the case group (p< 0.001) and 271 (97.8%) of the control group. Regarding the use of ferrous sulfate, 114 (86.3%) of the case group and 271 (97.8%) of the control group reported using it. In the case group, 84 (63.6%) mothers reported being exposed to second-hand smoke, and 5 (3.7%) reported alcohol consumption (p= 0.797). In terms of caffeine consumption, 127 mothers (95.4%) in the case group consumed it (p= 0.13), while 247 (88.8%) reported consumption in the control group. Conclusions The results suggest a direct relationship between secondhand smoke, alcohol consumption, and the lack of maternal supplementation with oral clefts.

Outcomes of permanent canines on the cleft side after secondary alveolar grafting using different materials in complete unilateral cleft lip and palate

Abstract The prevalence of impaction of the permanent canine on the cleft side (PCCS) ranges from 12-35% after alveolar bone grafting (ABG). PCCSs usually develop above other permanent teeth in the alveolar process, gradually becoming vertical until they reach the occlusal plane. The type of cleft, hypodontia of lateral incisor on the cleft side, slower PCCS root development, and genetic factors are predictors of impaction and/or its ectopic eruption. Objective: To compare the behavior of PCCS in individuals with complete unilateral cleft lip and palate (UCLP) subjected to secondary alveolar grafting (SAG) with different materials. Methodology: This retrospective longitudinal study analyzed 120 individuals undergoing SAG with iliac crest bone, rhBMP-2, and mandibular symphysis. The individuals were selected at a single center and equally divided into three groups. Panoramic radiographs were analyzed by the Dolphin Imaging 11.95 software to measure PCCS angulation and PCCS height from the occlusal plane at two different timepoints. Results: No statistical significance was found between grafting materials (P=0.416). At T1, the PCCS height from the occlusal plane was greater for rhBMP-2 and mandibular symphysis compared to iliac crest bone. The lateral incisor on the cleft side was not related to success or lack of eruption of PCCS (P=0.870). Conclusion: Impaction rates of PCCS were similar for the materials studied. Absence of the lateral incisor on the cleft side did not prevent spontaneous eruption of PCCSs.

Evaluation of measuring vomer-palate diameters at 11-13 + 6 weeks of gestation and its diagnostic value for cleft lip and palate / 中华超声影像学杂志

Objective:To investigate the reference range of the length and thickness of the fetal vomer-palate diameters at 11-13 + 6 weeks, and their role in the diagnosis of cleft lip and palate(CLP). Methods:From May 2020 to August 2021, 1 559 pregnant women who underwent ultrasound examination at 11-13 + 6 weeks in Guangdong Women and Children Hospital were selected, and the fetal vomer-palate in the median sagittal plane of the face was observed. The length and thickness diameters of the fetal were measured separately to establish the reference value range of normal fetal.The reference range was compared with the vomer-palate data of fetuses with confirmed CLP. Results:The 1 518 normal fetuses were divided into 11-13 + 6 weeks, 12-12 + 6 weeks and 13-13 + 6 weeks. The reference values of the long diameter of fetal vomer-palatine were 4.3-5.9 mm, 5.0-6.8 mm, 5.4-7.7 mm, and the reference values of the thick diameter were 2.0-2.9 mm, 2.2-3.4 mm, and 2.5-3.8 mm, respectively. The length and thickness of the fetal vomer-palatine were significantly positively correlated with the Crown-rump length ( rs=0.733, 0.634; all P<0.001). In the 1 559 fetals, 25 cases were diagnosed and confirmed with CLP, and the vomer-palate thickness diameters were smaller than the reference values in all cases, meanwhile, the vomer-palate length diameters of 22(88.0)% cases were smaller than the reference values. Conclusions:The reference range of fetal vomer-palate length and thickness at 11-13 + 6 weeks of gestation is valuable for the screening of fetal CLP.

Dental Anomalies and Muscle Segment Homeobox1 Gene Polymorphism in Nonsyndromic Cleft Lip with or without Palate Children

@#This study aims to determine the prevalence of dental anomalies and MSX1 gene 799G>T polymorphism and its association with non-syndromic cleft lip with or without palate (NSCLP) attending Hospital Universiti Sains Malaysia. Clinical and radiological assessments on 37 NSCL±P patients and 80 non-cleft children were done to detect dental anomalies. The buccal cells were collected and polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was used to identify polymorphism. NSCL±P was higher among males (54%) and mostly unilateral cleft lip and palate (51.3%). The prevalence of dental anomalies in morphology in NSCL±P was 18.9% (95% CI: 5.7%, 32.2%) and non-cleft was 6.3% (95% CI: 0.8%, 11.7%). Hypodontia in NSCLP was 75% (95% CI: 61.2%, 90.2%) and non-cleft was 7.5% (95% CI: 1.6%, 13.4%). There was a significant association between NSCLP and anomalies in morphology (P= 0.04; OR=3.5)) and number (P< 0.01; OR= 40). There was an absence of rare 799G>T polymorphism in all NSCL±P and non-cleft children indicating that all samples contain common 799G polymorphism. In conclusion, the prevalence of dental anomalies in morphology and number was significantly higher in NSCL±P compared to non-cleft children. However, it was not significantly associated with MSX1 799G>T polymorphism.

Soft tissue changes in midfacial healthy and affected sides of unilateral cleft lip and palate patients after orthognathic surgery / 中华医学美学美容杂志

Objective:To investigate the alterations in soft tissue morphology and thickness in the mid-face region of patients with cleft lip and palate (UCLP) secondary to maxillofacial deformity following Le Fort I osteotomy.Methods:A total of 22 patients (16 males and 6 females aged from 17 to 28 years with an average of 20 years) diagnosed with cleft lip and palate secondary to maxillofacial deformity were collected from the Wuhan University Hospital of Stomatology from July 2012 to August 2020. All patients underwent Le Fort I osteotomy. CBCT scans were obtained at T0 (3 days before surgery), T1 (7 days after surgery), and T2 (1 year after surgery). The Dolphin11.95 software and 3D Slicer software were utilized to measure and analyze the soft tissue near the mid-face osteotomy line. Differences in soft tissue thickness before and after surgery were compared.Results:Before and after the operation, the soft tissue thickness at P3, P5, P6, and P8 on the affected side was thicker than that on the healthy side, and the difference was statistically significant, with a P-value of <0.05. At P5, P6, P7, P8, and P9 below the osteotomy line at T2-T0, the degree of postoperative thinning on the affected side was more apparent than that on the healthy side, and there was statistical significance at P6 ( P<0.05). The postoperative soft tissue asymmetry in the Ck region was improved compared with the preoperative one. The preoperative average protruding of the affected side was 0.63 compared with the healthy side, and the postoperative value was 0.17. The preoperative and postoperative Mann-Whitney U tests showed significantly statistical difference. Conclusions:After Le Fort I osteotomy, the facial asymmetry of patients with unilateral cleft lip and palate secondary to maxillofacial deformity is improved. However, there is still a difference in the soft tissue thickness between the healthy side and the affected side, and the change in soft tissue thickness on the affected side is more significant than that on the healthy side.

Incidence of congenital cleft lip and cleft palate in Shanxi province and its trend from 2010 to 2020 / 中华全科医师杂志

Objective:To analyze the incidence of congenital cleft lip and cleft palate in Shanxi province and its trend from 2010 to 2020.Methods:The clinical data of perinatal infants from 2010 to 2020 were collected from Shanxi Provincial Hospital Monitoring System, and the distribution, prenatal diagnosis, the incidence of cleft lip, cleft palate, and the trend were analyzed.Results:From 2010 to 2020, among 843 457 prenatal infants in Shanxi province, there were 1 264 cases of cleft lip and/or cleft palate with an overall incidence rate of 1 4.99/10 4. Among them 199 cases were cleft palate (15.74%) with an incidence rate of 2.36/10 4; 358 cases were cleft lip (28.33%) with an incidence rate of 4.24/10 4; 707 cases were cleft lip with cleft palate (55.93%) with an incidence rate of 8.38/10 4. The overall incidence of cleft lip and/or cleft palate was significantly decreased from 2010 to 2020 ( χ2=104.04, P<0.001). The incidence of cleft lip in rural area was higher than that in urban areas (19.13/10 4vs. 11.50/10 4, χ2=81.29, P<0.001); the incidence in male infants was higher than that in female infants (16.41/10 4vs. 13.41/10 4, χ2=90.59, P<0.001). There were significant differences in the incidence of cleft lip and cleft palate among different maternal ages ( χ2=58.40, P<0.001); the incidence in maternal age<20 years (21.66/10 4) and 20-<25 years (21.06/10 4) was higher than that of other groups. The proportion of prenatal diagnosis of total cleft lip was 27.85% (352/1 264), which showed an increasing trend ( χ2=6.96, P=0.008). Conclusion:From 2010 to 2020, the incidence of congenital cleft lip and palate in Shanxi province shows a decreasing trend, while the prenatal diagnosis rate shows an increasing trend.

Research progress on the role of environmentally induced DNA methylation in congenital cleft lip and/or palate / 口腔疾病防治

@#Congenital cleft lip and/or palate (CL/P) is a common malformation of maxillofacial development. At present, it is believed that the etiology of congenital cleft lip and palate mainly results from genetic factors and environmental factors. Epigenetic changes induced by environmental factors may be the key factor in the occurrence of fetal congenital malformations. As one of the important epigenetic modifications, DNA methylation has been widely and deeply studied in many fields, but as a link between the individual and the environment, its application in CL/P is limited. Existing studies have shown that DNA methylation is closely related to the occurrence of cleft lip and palate. Stimulation of folate deficiency, smoking, pollutant exposure and other environmental factors can induce changes in the state of DNA methylation, thus affecting gene expression in the development of lip and palate and leading to the occurrence of deformities.

3D finite element analysis of the influence of upper lip pressure on the maxilla for patients with unilateral alveolar cleft / 口腔疾病防治

Objective @#To investigate the biomechanical effects of upper lip pressure on the maxilla in patients with a unilateral alveolar cleft and provide evidence for clinical diagnosis and treatment. @*Methods @#A 3D finite element maxillary model was generated based on cone beam CT (CBCT) data from an 11-year-old female patient with a unilateral alveolar cleft. Two different kinds of upper lip pressure, postsurgery pressure and normal pressure, were applied to the model. The displacement and stress of each reference node were compared and analyzed. @*Results @# By loading upper lip pressure, the maxillary alveolar crest rotated toward the defect and was displaced downward and backward. The displacement of the noncleft side was greater than that of the cleft side and it decreased gradually from the anterior to the posterior. The stress was concentrated on the anterior portion of the alveolar crest. The stress on the noncleft side was greater than that on the cleft side and it decreased gradually from the anterior to the posterior. The maximum stress was concentrated on the palate around the defect. The displacement and stress in the postsurgery group were greater than those of the normal group (P<0.05). @*Conclusion @#By loading upper lip pressure, the maxilla demonstrated asymmetry three-dimensionally. The adverse effects on the maxilla could be mitigated by reducing the upper lip pressure.

Study on brain mechanism of rehabilitation training of articulation disorder in cleft lip and palate patients based on functional magnetic resonance imaging / 生物医学工程学杂志

The cleft lip and palate (CLP) is one of the most common craniofacial malformations in humans. We collected functional magnetic resonance data of 23 CLP patients before rehabilitation training (Bclp) and 23 CLP patients after rehabilitation training (Aclp), who were performing Chinese character pronunciation tasks, and performed brain activation analysis to explore the changes of brain mechanism in CLP patients after articulation disorder rehabilitation training. The study found that Aclp group had significant activation in the motor cortex, Broca area, Wernicke area and cerebellum. While the Bclp group had weak activation in the motor cortex with a small activation range. By comparing the differences and co-activated brain regions between the two groups, we found that rehabilitation training increased the activity level of negatively activated brain areas (cerebellum, left motor area, Wernicke area, etc.) to a positive level. At the same time, the activity level of weakly activated brain areas (right motor area, Broca area, etc.) was also increased. Rehabilitation training promoted the activity level of articulation-related brain regions. So that the activation intensity of articulation-related brain regions can be used as a quantifiable objective evaluation index to evaluate the effect of rehabilitation training, which is of great significance for the formulation of rehabilitation training programs.

Research progress on early speech interventions for children with cleft lip and palate / 口腔疾病防治

@#Children born with cleft lip and palate (CLP) are at high risk of disorders involving early speech production, and these problems can persist into later childhood, leading to the emergence of compensatory articulation errors. These difficulties in early vocalization directly impact the subsequent development of children's speech and vocabulary. Studies have shown that providing naturalistic interventions, such as milieu teaching and focused stimulation, for children with CLP in the first three years of life have positive impacts on the speech development of children, such as the potential to increase phonemic inventories and the percentage of correct consonants. In addition to speech and language therapists who perform systematic speech therapy, parents can be trained and supervised to deliver early speech intervention. The percentage of correct consonants can be used to assess outcome measures of speech intervention when combined with other measures, such as consonant inventory and speech intelligibility. However, much recent research in the field has focused on older children. Therefore, it must be determined if intervening during the early phase of typical speech development leads to better results. Future research should use more robust methodological designs to determine whether early speech intervention exhibits a positive impact on the speech and future physical and mental development of children with CLP.

Differences of temporomandibular joint symmetry in patients with unilateral complete cleft lip and palate at different developmental stages / 中南大学学报(医学版)

OBJECTIVES@#Currently, the research results regarding the bilateral temporomandibular joint symmetry in patients at different ages with unilateral complete cleft lip and palate (UCLP) are still controversial. In this study, the position of condyle in the articular fossa and morphology of condyle in UCLP patients at different developmental stages was measured and analyzed to explore the asymmetry difference, which can provide a new theoretical basis for the sequential therapy.@*METHODS@#A total of 90 patients with UCLP were divided into a mixed dentition group (31 cases), a young permanent dentition group (31 cases) and an old permanent dentition group (28 cases) according to age and dentition development. Cone beam computed tomography (CBCT) images were imported into Invivo5 software for 3D reconstruction, and the joint space, anteroposterior diameter, medio-lateral diameter, and height of condylar were measured, and its asymmetry index was calculated.@*RESULTS@#The asymmetry index of condylar height and anteroposterior diameter among the 3 groups, from small to large, was the mixed dentition group<the young permanent dentition group<the old permanent dentition group (both P<0.05). There was no significant difference in condylar anteroposterior diameter and asymmetry index between the mixed dentition group and the young permanent dentition group (both P>0.05), all of them were lower than those in the old permanent dentition group (both P<0.05). Compared with the normal side, the height of fracture condyle was smaller among the 3 groups (all P<0.05), and the anterior joint space was smaller (P<0.05) and the posterior joint space was larger (P<0.05) in the mixed dentition group.@*CONCLUSIONS@#In patients with UCLP, the asymmetry of condylar morphology increases with age, but the condylar position tends to normal. These results suggest that early treatment has important clinical significance for the morphologic development of temporomandibular joint in UCLP patients.

Craniofacial morphology of patients with unilateral cleft lip and palate at two stages of skeletal maturation

Abstract The aim of this retrospective cross-sectional investigation was to perform a 3D analysis of craniofacial morphology of patients with unilateral cleft lip and palate (UCLP) at two stages of skeletal maturation. Cone-beam computed tomography (CBCT) scans of 52 UCLP patients (34 prepubertal; 18 pubertal) were collected from an outpatient referral center for the treatment of craniofacial deformities. In total 15 multiplanar craniofacial landmarks were identified, 3D virtual surface models were created, and 13 variables were measured to assess the 3D Euclidean distances between landmarks and spatial position of the landmarks in the projected X, Y and Z components. Maxillary and mandibular pitch (clockwise, counterclockwise) rotation relative to the cranial base was also evaluated. The significance level was set at 5%. Maxillary retrusion value relative to the cranial base was higher and statistically significant greater (p = 0.028) in pubertal (SNA, 77.4° ± 6.2; N-ANS Y, 3.3 mm ± 3.1) than in prepubertal patients (SNA 81.0° ± 5.2; N-ANS Y, 5.8 mm ± 2.7). The posterior cranial base length (S-Ba Y) was significantly longer (p = 0.013) in pubertal (20.7 mm ± 3.4) than in prepubertal patients (18.4 mm ± 2.7). The upper facial height (N-ANS Z) was significantly greater (p = 0.01) in pubertal (46.9 mm ± 4.5) than in prepubertal patients (43.4 mm ± 3.0). Prepubertal and pubertal UCLP patients presented distinct patterns of craniofacial morphology, mainly in the sagittal component of the maxilla and in the posterior cranial base length. Pubertal patients had greater maxillary retrusion and posterior cranial base length.

Prenatal diagnosis of orofacial clefts: unveiling the parents' experience / Diagnóstico pré-natal das fissuras orofaciais: desvelando a experiência dos pais

ABSTRACT Objective: To understand the experience of parents regarding prenatal diagnosis of orofacial cleft in their children. Methods: Descriptive study with a qualitative approach, carried out in a Brazilian public tertiary hospital between January and March 2019. Parents who were accompanying their children during hospitalization for primary surgeries and who had received the diagnosis of malformation during pregnancy were included in this study. Data was collected through semi-structured interviews, which were audio-recorded and transcribed in full. To prepare the results, Content Analysis was used in the Thematic modality. Results: The sample had 17 participants: 16 mothers and one father. From the speeches, three categories were unveiled: dealing with the unknown, assimilating the diagnosis, and positive and negative implications of prenatal diagnosis. Conclusions: We learned how complex and conflicting it was for parents to receive the diagnosis of malformation in their children, and that family and professional support was essential to the process of assimilation and coping. The findings point to the need for planning and implementing interventions, protocols and/or public policies aimed at assisting these parents in this period.

RESUMO Objetivo: Compreender a experiência de pais quanto ao diagnóstico pré-natal da fissura orofacial em seu filho. Métodos: Estudo descritivo, de abordagem qualitativa, realizado em hospital público e terciário brasileiro, entre janeiro e março de 2019. Foram incluídos pais que acompanhavam os filhos durante a internação para realização de cirurgias primárias, e que haviam recebido o diagnóstico da malformação durante o período gestacional. A coleta de dados foi realizada por meio de entrevista semiestruturada, que foi gravada e transcrita na íntegra. Para confecção dos resultados utilizou-se a Análise de Conteúdo na modalidade temática. Resultados: A amostra constou de 17 participantes, dos quais 16 mães e um pai. Com base nos discursos, desvelaram-se três categorias: lidando com o desconhecido; assimilando o diagnóstico; e implicações positivas e negativas do diagnóstico no pré-natal. Conclusões: Apreendeu-se quão complexo e conflitante foi para os pais receber o diagnóstico da malformação em seu filho, e o apoio familiar e profissional estabeleceu-se como indispensável ao processo de assimilação e enfrentamento. Os achados apontaram a necessidade de planejar e implementar intervenções, protocolos e/ou políticas públicas, para assistir esses pais nesse período.