Adolescents with orofacial clefts: understanding their experiences.

OBJECTIVE: To understand the experience of young people with orofacial clefts regarding life as an adolescent. METHODS: Descriptive, qualitative study, developed in a Brazilian public and tertiary hospital, a reference center in the care of patients with craniofacial anomalies and related syndromes, between February and April 2019. The sample was defined by theoretical saturation. The following inclusion criteria were established: age between ten and 19 years old and having previously operated on orofacial cleft (lip and/or palate). Individuals with fissure associated with syndromes or other malformations were excluded. Data collection was performed through semi-structured interviews, which were audio recorded and transcribed in full. The trigger element was: how has it been for you to experience your adolescence? For the construction of the results, content analysis was used in the thematic modality. RESULTS: Seventeen adolescents participated. From the speeches, three categories were revealed: interacting socially, feeling supported, and experiencing and facing prejudice. CONCLUSIONS: The biopsychosocial and conflicting complexity that adolescents with orofacial clefts experience was noticed, as well as the importance of receiving support and establishing modalities of situational coping.

Mexican patient with Ellis-van Creveld syndrome and cleft palate: Importance of functional hemizygosity and phenotype expansion.

BACKGROUND: Ellis-van Creveld syndrome (EvCS) is a chondroectodermal dysplasia caused by germline pathogenic variants in ciliary complex subunit 1 and 2 genes (EVC, EVC2) on chromosome 4p16.2. This disease has a broad phenotype, and there are few described phenotype-genotype correlations. METHODS: Ethical Compliance: Written informed consent was obtained from the parents. Here, we report a genetically confirmed Mexican patient with EvCS having two inherited pathogenic variants in trans in EVC2: c.[1195C>T];[2161delC]. RESULTS: This patient allowed a genotypic-phenotypic comparison with another Mexican subject who presented a more attenuated phenotype; furthermore, our patient also presented cleft palate, a rarely reported feature. CONCLUSION: Our case shows the importance of comparing functional hemizygosity between patient's phenotypes when they share a variant, and our case also supports the association of alterations in the palate as part of the EvCS phenotype.

Comparison of craniomaxillofacial morphology in children with unilateral cleft lip and palate treated with/without presurgical nasoalveolar molding - a retrospective study with a mean age of 5 years.

OBJECTIVES: To three-dimensionally assess differences in craniomaxillofacial skeletal development in patients with operated unilateral cleft lip and palate (UCLP) treated with/without presurgical nasoalveolar molding (PNAM) with a mean age of 5 years. MATERIALS AND METHODS: Cone-beam CT radiographs of 30 patients with UCLP who had undergone PNAM and 34 patients with UCLP who did not receive PNAM were analyzed. The data were stored in DICOM file format and were imported into the Dolphin Imaging program for 3D image reconstruction and landmark identification. 33 landmarks, 17 linear and three angular variables representing craniofacial morphology were analyzed and compared by using the Mann-Whitney U tests. RESULTS: The vast majority of linear variables and 3D coordinates of landmark points reflecting craniofacial skeletal symmetry were not significantly different between the two groups. In terms of craniofacial skeletal development, the PNAM group had a significantly smaller anterior nasal spine offset in the midsagittal plane and a greater maxillary length compared to the non-PNAM group. CONCLUSIONS: Evaluations performed in early childhood showed that treatment with/without PNAM in the neonatal period was not a major factor influencing craniomaxillofacial hard tissue development in patients with UCLP; moreover, PNAM treatment showed significant correction of skeletal deviation at the base of the nose. CLINICAL RELEVANCE: Follow-up in early childhood has shown that PNAM treatment administered during the neonatal stage does not impede maxillary development and has benefits in correcting nasal floor deviation. It is a viable option for improving nasal deformity in children with unilateral cleft lip and palate.

Stability between single and segmental maxillary osteotomies in bimaxillary surgery for cleft-associated class III deformity: a CBCT study.

OBJECTIVE: Segmental Le Fort I osteotomy through the cleft is a common strategy to narrow the alveolar cleft in adults. This study compared skeletal stability between single and segmental Le Fort I osteotomies in patients with unilateral cleft lip and palate (UCLP). MATERIALS AND METHODS: This retrospective analysis examined 45 adults with complete UCLP-associated class III deformities who underwent bimaxillary surgery with either single (n = 30) or segmental (n = 15) Le Fort I advancement. Cone beam computed tomography (CBCT) scans of the facial skeleton were acquired before surgery, 1-week postsurgery, and at follow-up. Measures of landmarks from the CBCT images for the two treatment groups were compared for translation (left/right, posterior/anterior, superior/inferior) and rotation (yaw, roll, pitch). RESULTS: Postsurgery, the downward movement of the maxilla was larger in the segmental group than the single group. At follow-up, the maxilla moved backward in both groups, and upward in the segmental group. The mandible moved forward and upward and rotated upward in both groups. The amount of upward movement and rotation was larger in the segmental group than the single group. CONCLUSIONS: Two years after bimaxillary surgery in patients with UCLP-associated class III deformity, greater relapse was found after segmental Le Fort I osteotomies in vertical translation of the maxilla and mandible, and pitch rotation of the mandible compared with single Le Fort I osteotomies. CLINICAL RELEVANCE: The vertical relapse of the maxilla was larger after segmental Le Fort I advancement compared with single Le Fort I advancement in clefts.

Regional anesthesia in neonates with cleft lip and palate: Retrospective study.

BACKGROUND: Orofacial clefts are the most common congenital abnormalities. Cleft lip reconstruction is performed mostly in 3 months of life including the neonatal period. The consumption of opioids during anesthesia is one of the monitored parameters of anesthesia safety. We investigated the effect of using an infraorbital nerve block for reducing opioid consumption during cleft lip surgery in neonates. PATIENTS/METHODS: Overall, 100 patients who underwent primary cleft lip surgery in neonatal age between 2018 and 2021 were included in the study. The primary outcome was to compare opioid requirements during cleft lip surgery with and without using regional anesthesia. Secondary outcomes included a first oral intake from surgery between neonates with and without regional anesthesia and complications rate of infraorbital nerve block. RESULTS: Data from 100 patients (46 patients with and 64 without regional anesthesia) were retrospectively analyzed and classified into two groups according to whether regional anesthesia during neonatal cleft lip surgery had been performed or not. The use of infraorbital block was found to be positively correlated with lower doses of opioids used during the general anesthesia for the surgery (mean 0.48 µg/kg vs 0.29 µg/kg, p < 0.05). The postoperative course was evaluated based on the interval from surgery to first oral intake which was statistically insignificant shorter (p = 0.16) in the group of patients using regional anesthesia. No complications were recorded in the group of patients with regional anesthesia. CONCLUSIONS: Regional anesthesia is associated with reduced opioid consumption during anesthesia thereby increasing the safety of anesthesia in neonates. GOV IDENTIFIER: NCT06067854https://clinicaltrials.gov/study/NCT06067854?cond=NCT06067854&rank=1.

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

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.

Predictors for long-term relapse of orthodontic treatment in patients with cleft lip and palate. A clinical follow-up study.

OBJECTIVES: To identify predictors for long-term relapse of orthodontic therapy in patients with cleft lip and palate (CLP). MATERIALS AND METHODS: Patients with uni- and bilateral non-syndromal CLP were followed up at least two years after completion of their orthodontic therapy. Plaster casts of the start of treatment (T1), after completion of treatment (T2), and at follow-up (T3) were measured using the modified Huddart Bodenham Index. Characteristics of multidisciplinary therapy were taken from the patient files. Potentially influencing factors of relapse were investigated using logistic regression analyses and Spearman correlations. RESULTS: In total 58.07% of the included 31 patients showed a stable treatment outcome at follow-up after an average of 6.9 years. Even if relapse occurred, 61.54% of these patients still showed improvement regarding their occlusion compared to baseline. Predictors for the occurrence of relapse were the severity of dysgnathia at baseline (p = 0.039) and the extent of therapeutic change (p = 0.041). The extent of therapeutic change was additionally a predictor for the extent of post-therapeutic relapse (ρ = 0.425; p = 0.019). CONCLUSIONS: Patients with CLP benefit from their orthodontic therapy in the long term despite an increased tendency to relapse. CLINICAL RELEVANCE: Results of this long-term study could be used to adapt the treatment concept for patients with CLP and reinforce the significance of a patient-centered orthodontic treatment concept for affected patients.

Multi-institutional Assessment of Otitis Media Epidemiology Using Real-world Data.

OBJECTIVES: To determine rates and risk factors of pediatric otitis media (OM) using real-world electronic health record (PEDSnet) data from January 2009 through May 2021. STUDY DESIGN: Retrospective cohort study. SETTING: Seven pediatric academic health systems that participate in PEDSnet. METHODS: Children <6 months-old at time of first outpatient, Emergency Department, or inpatient visit were included and followed longitudinally. A time-to-event analysis was performed using a Cox proportional hazards model to estimate hazard ratios for OM incidence based on sociodemographic factors and specific health conditions. RESULTS: The PEDSnet cohort included 910,265 children, 54.3% male, mean age (months) 1.3 [standard deviation (SD) 1.6] and mean follow up (years) 4.3 (SD 3.2). By age 3 years, 39.6% of children had evidence of one OM episode. OM rates decreased following pneumococcal-13 vaccination (PCV-13) and the COVID-19 pandemic. Along with young age, non-Hispanic Black/African American or Hispanic race/ethnicity, public insurance, higher family income, and male sex had higher incidence rates. Health conditions that increased OM risk included cleft palate [adjusted hazard ratio (aHR) 4.0 [95% confidence interval (CI) 3.9-4.2], primary ciliary dyskinesia [aHR 2.5 (95% CI 1.8-3.5)], trisomy 21 [aHR 2.0 (95% CI 1.9-2.1)], atopic dermatitis [aHR 1.4 (95% CI 1.4-1.4)], and gastroesophageal reflux [aHR1.5 (95% CI 1.5-1.5)]. CONCLUSIONS: Approximately 20% of children by age 1 and 40% of children by age 3 years will have experienced an OM episode. OM rates decreased after PCV-13 and COVID-19. Children with abnormal ciliary function or craniofacial conditions, specifically cleft palate, carry the highest risk of OM.

Outcomes of primary repair of cleft palate using sommerled intravelar veloplasty associated with velocardiofacial syndrome.

OBJECTIVES: Velocardiofacial syndrome, a prevalent microdeletion syndrome occurring in 1 in 2000-4000 live births, is marked by speech and language disorders, notably velopharyngeal dysfunction. This study investigates speech outcomes, nasometric and videofluoroscopic results before and after primary repair of cleft palate using the Sommerlad intravelar veloplasty (SIVV) technique within the Isfahan cleft care team for patients with velocardiofacial syndrome. METHODS: Employing a quasi-experimental design, 19 participants with velocardiofacial syndrome, who underwent primary cleft palate repair by the Isfahan cleft care team, were included through convenience sampling. Perceptual and instrumental outcomes were assessed pre-and post-operatively. Statistical analysis encompassed paired t-tests and the non-parametric Wilcoxon signed-rank test (p < 0.05). RESULTS: The study identified no statistically significant differences between pre-and post-surgical speech outcome parameters and nasalance scores. Nonetheless, a significant distinction emerged in the velopharyngeal closure ratio based on fluoroscopic evaluation (p = 0.038). CONCLUSION: The efficacy of the SIVV technique in treating velopharyngeal dysfunction in velocardiofacial syndrome patients is inconclusive, demanding further research. Post-surgical speech outcomes are influenced by surgical technique, hypotonia, apraxia of speech, and surgery timing. Notably, an elevated velopharyngeal valve closure ratio, though anatomically indicative, does not exclusively predict surgical success.

Need for orthognathic surgery in cleft patients from Northern Finland.

OBJECTIVE: Northern Finland has a unique distribution of clefts compared to the rest of Europe and Finland. This may reflect the need for orthognathic surgery among Northern Finland's patient pool. The aim of this study was to compare previously operated patients aged 18 years or older with cleft lip, cleft lip and alveolus, cleft lip and palate, cleft palate and to evaluate the need for orthognathic surgery in order to achieve a stable and functional occlusion.  Materials and methods: The study group consisted of all 18-years-old cleft patients treated in the Oulu Cleft Center. The total amount of patients was 110. The patients were compared retrospectively using patients' hospital records. The majority of patients did not have any cleft-associated syndrome. The need for maxillary or bimaxillary orthognathic or corrective-jaw surgery was evaluated by the Oulu Cleft Team. A descriptive and statistical analysis was used to determine the need for orthognathic surgery according to sex and cleft type. RESULTS: There were nineteen patients of the total of 110 patients who met the criteria requiring corrective-jaw surgery (17,3%). In total 12 males (25,0%) and 7 females (11,3%) were evaluated for the need of orthognathic surgery. Sixteen of the 19 patients had palatal involvement of the cleft. CONCLUSIONS: The need for orthognathic surgery was greater in the cleft lip palate and cleft palate patient groups compared to cleft lip alveolus or cleft lip groups. This study also found that males from Northern Finland need surgery more often than females.

Respiratory outcomes after cleft palate closure in Robin sequence: a retrospective study.

OBJECTIVES: There is a paucity of information about the possible risk factors that could identify patients with Robin sequence (RS) who are more prone to developing obstructive airway complications after palate closure. This study aimed to compare the respiratory complication rates in patients with RS and isolated cleft palate (ICP). MATERIALS AND METHODS: In this retrospective study, we reviewed the medical records of 243 consecutive patients with RS and ICP who were treated at Amsterdam University Medical Centers over the past 25 years. We collected preoperative data on previous treatment, diagnostic findings, surgical technique, weight, and presence of congenital anomalies. RESULTS: During cleft palate closure, patients with RS were older (11.9 versus 10.1 months; p = 0.001) and had a lower gestational age than those with ICP (37.7 versus 38.5 weeks; p = 0.002). Patients with RS had more respiratory complications (17 versus 5%; p = 0.005), were more often non-electively admitted to the pediatric intensive care unit (PICU) (13 versus 4.1%; p = 0.022), and had a longer hospital stay duration (3.7 versus 2.7 days; p = 0.011) than those with ICP. The identified risk factors for respiratory problems were a history of tongue-lip-adhesion (TLA) (p = 0.007) and a preoperative weight of < 8 kg (p = 0.015). Similar risk factors were identified for PICU admission (p = 0.015 and 0.004, respectively). CONCLUSIONS: The possible risk factors for these outcomes were a low preoperative weight and history of TLA. Closer postoperative surveillance should be considered for patients with these risk factors. CLINICAL RELEVANCE: Identifying risk factors for respiratory complications could provide clinicians better insight into their patients and allows them to provide optimal care for their patients.

Multivariate logistic regression analysis of risk factors for birth defects: a study from population-based surveillance data.

OBJECTIVE: To explore risk factors for birth defects (including a broad range of specific defects). METHODS: Data were derived from the Population-based Birth Defects Surveillance System in Hunan Province, China, 2014-2020. The surveillance population included all live births, stillbirths, infant deaths, and legal termination of pregnancy between 28 weeks gestation and 42 days postpartum. The prevalence of birth defects (number of birth defects per 1000 infants) and its 95% confidence interval (CI) were calculated. Multivariate logistic regression analysis (method: Forward, Wald, α = 0.05) and adjusted odds ratios (ORs) were used to identify risk factors for birth defects. We used the presence or absence of birth defects (or specific defects) as the dependent variable, and eight variables (sex, residence, number of births, paternal age, maternal age, number of pregnancies, parity, and maternal household registration) were entered as independent variables in multivariate logistic regression analysis. RESULTS: Our study included 143,118 infants, and 2984 birth defects were identified, with a prevalence of 20.85% (95%CI: 20.10-21.60). Multivariate logistic regression analyses showed that seven variables (except for parity) were associated with birth defects (or specific defects). There were five factors associated with the overall birth defects. The risk factors included males (OR = 1.49, 95%CI: 1.39-1.61), multiple births (OR = 1.44, 95%CI: 1.18-1.76), paternal age < 20 (OR = 2.20, 95%CI: 1.19-4.09) or 20-24 (OR = 1.66, 95%CI: 1.42-1.94), maternal age 30-34 (OR = 1.16, 95%CI: 1.04-1.29) or > = 35 (OR = 1.56, 95%CI: 1.33-1.81), and maternal non-local household registration (OR = 2.96, 95%CI: 2.39-3.67). Some factors were associated with the specific defects. Males were risk factors for congenital metabolic disorders (OR = 3.86, 95%CI: 3.15-4.72), congenital limb defects (OR = 1.34, 95%CI: 1.14-1.58), and congenital kidney and urinary defects (OR = 2.35, 95%CI: 1.65-3.34). Rural areas were risk factors for congenital metabolic disorders (OR = 1.21, 95%CI: 1.01-1.44). Multiple births were risk factors for congenital heart defects (OR = 2.09, 95%CI: 1.55-2.82), congenital kidney and urinary defects (OR = 2.14, 95%CI: 1.05-4.37), and cleft lip and/or palate (OR = 2.85, 95%CI: 1.32-6.15). Paternal age < 20 was the risk factor for congenital limb defects (OR = 3.27, 95%CI: 1.10-9.71), 20-24 was the risk factor for congenital heart defects (OR = 1.64, 95%CI: 1.24-2.17), congenital metabolic disorders (OR = 1.56, 95%CI: 1.11-2.21), congenital limb defects (OR = 1.61, 95%CI: 1.14-2.29), and congenital ear defects (OR = 2.13, 95%CI: 1.17-3.89). Maternal age < 20 was the risk factor for cleft lip and/or palate (OR = 3.14, 95%CI: 1.24-7.95), 30-34 was the risk factor for congenital limb defects (OR = 1.37, 95%CI: 1.09-1.73), >=35 was the risk factor for congenital heart defects (OR = 1.51, 95%CI: 1.14-1.99), congenital limb defects (OR = 1.98, 95%CI: 1.41-2.78), and congenital ear defects (OR = 1.82, 95%CI: 1.06-3.10). Number of pregnancies = 2 was the risk factor for congenital nervous system defects (OR = 2.27, 95%CI: 1.19-4.32), >=4 was the risk factor for chromosomal abnormalities (OR = 2.03, 95%CI: 1.06-3.88) and congenital nervous system defects (OR = 3.03, 95%CI: 1.23-7.47). Maternal non-local household registration was the risk factor for congenital heart defects (OR = 3.57, 95%CI: 2.54-5.03), congenital metabolic disorders (OR = 1.89, 95%CI: 1.06-3.37), congenital limb defects (OR = 2.94, 95%CI: 1.86-4.66), and congenital ear defects (OR = 3.26, 95%CI: 1.60-6.65). CONCLUSION: In summary, several risk factors were associated with birth defects (including a broad range of specific defects). One risk factor may be associated with several defects, and one defect may be associated with several risk factors. Future studies should examine the mechanisms. Our findings have significant public health implications as some factors are modifiable or avoidable, such as promoting childbirths at the appropriate age, improving the medical and socio-economic conditions of non-local household registration residents, and devoting more resources to some specific defects in high-risk groups, which may help reducing birth defects in China.

Evaluation of maxillary arch symmetry in cleft patients undergoing orthodontic treatment: a comparative study.

OBJECTIVE: Patients with a cleft require structured procedures to achieve feasible treatment results. Since many treatment protocols coexist without being superior to one another, this study investigated the Saarland University Hospital treatment concept for patients with unilateral and bilateral clefts to evaluate its effects upon dental arch dimensions until the early mixed dentition. MATERIAL AND METHODS: Digitized plaster models were used for data collection. Records of 83 patients (Cleft n = 41 [UCLP n = 28, BCLP n = 13], Non-Cleft Control n = 42) comprised 249 casts. The evaluation included established procedures for measurements of edentulous and dentate jaws. Statistics included Shapiro-Wilk, Friedmann, Wilcoxon and Mann-Whitney-U-Tests for the casts. The level of significance was set at p < 0.05. RESULTS: The cast analysis showed an approximation of arch dimensions towards those of age-matched patients without a cleft until early mixed dentition. The mean values of patients with and without cleft lip and palate were almost indistinguishable when compared in primary and/or early mixed dentition. CONCLUSIONS: The evaluated treatment concept leads to feasible outcomes regarding dental arches in patients with unilateral and bilateral clefts compared to an age-matched non-cleft control. CLINICAL RELEVANCE: The evaluated treatment concept leads to favorable outcomes until early mixed dentition.

Digital resources in the monitoring of patients with cleft lip and palate: protocol for a scoping review.

INTRODUCTION: Cleft lip and/or palate (CL+/-P) is a congenital malformation affecting the lip and palate, requiring long-term treatment due to potential associated complications. For this reason, it is important for the patient to be continuously monitored and followed for health promotion and prevention, as well as improving the quality of life. The aim of this scoping review protocol is to identify and map the available evidence regarding the application of digital resources and technologies in the monitoring and follow-up of patients with CL+/-P. METHODS AND ANALYSIS: This scoping review protocol follows the guidelines recommended by the Joanna Briggs Institute Manual, employing the PCC acronym (Patient/Concept/Context). Searches will be conducted, in May 2024, of PubMed, Web of Science, Scopus, Latin American and Caribbean Health Sciences Literature, ScienceDirect, as well as grey literature indexed in ProQuest Open Access Dissertations & Theses and Google Scholar. The review will consider all types of published studies, including grey literature, in English, Portuguese and Spanish languages, and will consider studies regardless of publication date. Exclusions will apply to studies that do not address the use of digital resources and technologies in CL+/-P monitoring and follow-up. ETHICS AND DISSEMINATION: As this is a scoping review, no ethics committee approval is required. After completion, the plan is to publish results in scientific journals on craniofacial malformations. STUDY REGISTRATION: Open Science Framework, DOI:10.17605/OSF.IO/Y6AG8.

The emotional and social concerns of mothers of children with cleft palate: A cross-sectional study.

PROBLEM: Among birth defects, a cleft palate is one of the most common defects globally, with a prevalence rate of 1 in 700 live-born children per annum. Caring for a child with cleft palate is considered a challenge for mothers who provide around clock care for these children. Despite this, there is limited knowledge of their experiences and needs particularly in low resource settings. BACKGROUND: Previous literature emphasized that mothers of children with cleft palate face many challenges involving emotional distress, social isolation, and financial burden. QUESTION: To investigate the emotional and social concerns of mothers of children with Cleft Palate compared to mothers of children without cleft palate. METHODS: A comparative study design was conducted at the Jordanian Royal Medical Services using convenience sample of 312 mothers of children with and without cleft palate in Jordan. FINDINGS: There was a significant difference in the presence of anxious feelings between mothers of children with cleft palate and those mothers without cleft palate children. Within group comparison for mothers of children with cleft palate has shown a significant difference in their social concerns with regards to social support and child's future. DISCUSSION: Mothers of children with cleft palate reported significantly higher levels of sadness feelings. These emotions could be attributed to several factors, including the financial burden associated with medical treatment and interventions, the burden of caring for a child with special needs, the social stigma related to the child's appearance, the lack of public awareness, and the insufficient social support services. CONCLUSION: Mothers of children with Cleft Palate experience a considerable amount of emotional and social concerns which require urgent interventions.

Potential of Viruses as Environmental Etiological Factors for Non-Syndromic Orofacial Clefts.

In this study, we analyzed the potential of viral infections in the species Homo sapiens as environmental causes of orofacial clefts (OFCs). A scoring system was adapted for qualitatively assessing the potential of viruses to cause cleft lip and/or palate (CL/P). This assessment considered factors such as information from the literature, nucleotide and amino acid similarities, and the presence of Endogenous Viral Elements (EVEs). The analysis involved various algorithm packages within Basic Local Alignment Search Tool 2.13.0 software and databases from the National Center for Biotechnology Information and the International Committee on Taxonomy of Viruses. Twenty significant viral species using different biosynthesis strategies were identified: Human coronavirus NL63, Rio Negro virus, Alphatorquevirus homin9, Brisavirus, Cosavirus B, Torque teno mini virus 4, Bocaparvovirus primate2, Human coronavirus HKU1, Monkeypox virus, Mammarenavirus machupoense, Volepox virus, Souris mammarenavirus, Gammapapillomavirus 7, Betainfluenzavirus influenzae, Lymphocytic choriomeningitis mammarenavirus, Ledantevirus kern, Gammainfluenzavirus influenzae, Betapolyomavirus hominis, Vesiculovirus perinet, and Cytomegalovirus humanbeta5. The evident viral etiological potential in relation to CL/P varies depending on the Baltimore class to which the viral species belongs. Given the multifactorial nature of CL/P, this relationship appears to be dynamic.

Retinoic Acid Upregulates METTL14 Expression and the m6A Modification Level to Inhibit the Proliferation of Embryonic Palate Mesenchymal Cells in Cleft Palate Mice.

Cleft palate only (CPO) is one of the most common craniofacial birth defects. Environmental factors can induce cleft palate by affecting epigenetic modifications such as DNA methylation, histone acetylation, and non-coding RNA. However, there are few reports focusing on the RNA modifications. In this study, all-trans retinoic acid (atRA) was used to simulate environmental factors to induce a C57BL/6J fetal mouse cleft palate model. Techniques such as dot blotting and immunofluorescence were used to find the changes in m6A modification when cleft palate occurs. RNA-seq and KEGG analysis were used to screen for significantly differentially expressed pathways downstream. Primary mouse embryonic palate mesenchymal (MEPM) cells were successfully isolated and used for in vitro experimental verification. We found that an increased m6A methylation level was correlated with suppressed cell proliferation in the palatine process mesenchyme of cleft palate mice. This change is due to the abnormally high expression of m6A methyltransferase METTL14. When using siRNAs and the m6A methyltransferase complex inhibitor SAH to interfere with the expression or function of METTL14, the teratogenic effect of atRA on primary cells was partially alleviated. In conclusion, METTL14 regulates palatal mesenchymal cell proliferation and cycle-related protein expression relies on m6A methylation modification, affecting the occurrence of cleft palate.

Effectiveness of secondary furlow palatoplasty with buccal myomucosal flap in correction of velopharyngeal insufficiency in patients with cleft palate.

OBJECTIVES: The main purpose of this study was evaluation of the effectiveness of secondary furlow palatoplasty with buccal myomucosal flap (FPBF) for the treatment of velopharyngeal insufficiency (VPI) in patients with a cleft palate who were treated with two flap palatoplasty (TFP) in their primary palate repair. MATERIAL AND METHODS: Twenty-three medically free children aged 4-8 years with non-syndromic and previously repaired cleft palate via TFP participated in the study. All patients received secondary surgery following the technique of FPBF. Preoperative speech evaluation was done before the secondary repair and 3 months after the surgery using a hypernasal speech scale, speech intelligibility scale, and nasopharyngoscopy. RESULTS: A statistically significant improvement was observed regarding the degree of hypernasality and speech intelligibility while comparing the preoperative scores after the primary surgery to the postoperative scores after the secondary surgery. In addition, a statistically significant improvement was found in the nasopharyngoscopic assessment. CONCLUSIONS: The incorporation of a buccal myomucosal flap with Furlow palatoplasty was successful in improving hypernasality, speech intelligibility, and nasopharyngoscopic scores in patients with cleft palate. TRIAL REGISTRATION: clinicaltrials.gov (NCT05626933). CLINICAL RELEVANCE: This technique might be the surgical technique of choice while treating patients who are suffering from VPI after cleft palate repair.