Impacted Ectopic Maxillary Incisor at the Margins of an Oronasal Palatal Fistula.

An oronasal fistula is one of the most common complications that can occur after cleft palate surgeries. Some of the reasons for the failure of repair are the closure of palatal flaps under tension, vascular compromise, and infection. We present a case of a 10-year-old patient who experienced nasal regurgitation during feeding, four years after undergoing a redo palatoplasty. The reason was identified as an impacted maxillary incisor located at the fistula site. The patient was managed with the closure of the oronasal palatal fistula, with a two-layered repair technique using bilateral mucoperiosteal flaps after the removal of the impacted tooth.

Barriers in Cleft Service Access in Sub-Saharan Africa: A Thematic Analysis of Practical Needs of Rural Families.

OBJECTIVE: To explore the experiences and perceptions of barriers of parents and family members of patients with cleft lip and palate in accessing cleft services in remote northwest Nigeria. DESIGN: Face-to-face semi-structured audio recorded interviews were used to obtained qualitative textual data. Thematic analysis using interpretative descriptive techniques was employed to understand the participants' lived experiences with barriers and accessibility to cleft services. SETTING: Participants were from Sokoto, Kebbi and Zamfara states in remote northwest, Nigeria. PARTICIPANTS: Consisted of 22 caregivers (17 parents and 5 extended family members) were purposively sampled between 2017 and 2020. MAIN OUTCOME MEASURES: Barriers experienced while accessing cleft services were identified during thematic analysis. RESULT: Over three quarter of the respondents had patients with both cleft lip and palate and without any previous family history (n = 20). About two-thirds of the participants (n = 15) were females. Most of the interviews were conducted before the surgeries (n = 15). FIVE THEMES EMERGED: lack of information, financial difficulty, misrepresentation from health workers, multiple transportation and previous disappointment. CONCLUSIONS: Areas of poor awareness, misinformation from primary health care workers, financial hurdles, multiple transportation logistics and others were identified. Aggressive broadcasting of information through radio, timely treatment and collaboration with influential religious leaders were emphasized. Support, grants and subsidies from government and voluntary agencies are encouraged to mitigate the huge out of pocket cost of cleft care in the region.

The society for craniofacial genetics and developmental biology 46th annual meeting.

The Society for Craniofacial Genetics and Developmental Biology (SCGDB) held its 46th Annual Meeting at Cincinnati Children's Hospital Medical Center in Cincinnati, Ohio on October 10th-12th, 2023. On the first day of the meeting, Drs. Sally Moody and Justin Cotney were each honored with the SCGDB Distinguished Scientist Awards for their exceptional contributions to the field of craniofacial biology. The following two days of the meeting featured five sessions that highlighted new discoveries in signaling and genomic mechanisms regulating craniofacial development, human genetics, translational and regenerative approaches, and clinical management of craniofacial differences. Interactive workshops on spatial transcriptomics and scientific communication, as well as a poster session facilitated meaningful interactions among the 122 attendees representing diverse career stages and research backgrounds in developmental biology and genetics, strengthened the SCGDB community.

Choice of Surgeons in Retractors used in Cleft Lip and Palate Surgery: An Original Research.

Background: To ensure optimal exposure and enable precise tissue manipulation, cleft lip and palate abnormalities require surgical repair utilizing retractors. Different retractors may affect surgical outcomes; however, this is not yet evident. Examining surgeon preferences for retractors in cleft lip and palate surgery and assessing their impact on patient outcomes were the goals of this study. Materials and Methods: The patients who underwent primary cleft lip and palate repair were retrospectively analyzed. This study evaluated three widely used retractors: the Langenbeck, Gelpi, and Moult Mouth Gag retractors. This study looked at demographic information, surgical results (including scarring, aesthetic outcomes, and wound healing issues), and surgeon preferences for retractors. Results: The study identified differences in surgical outcomes related to various retractor types. Both Group A (Langenbeck retractor) and Group B (Gelpi retractor) demonstrated similar favorable results, such as little wound healing issues, less scarring, and pleasing cosmetic results. The wound healing issues, scarring, and cosmetic outcomes were all worse in Group C (Moult Mouth Gag retractor). Conclusion: Retractors were not always preferred by surgeons doing cleft lip and palate surgery. The type of retractor had an impact on the surgical results; the Moult Mouth Gag retractor performed less well than the Langenbeck and Gelpi retractors. These results highlight the value of using evidence-based criteria to select retractors more effectively and enhance surgical methods for better patient outcomes in cleft lip and palate repair.

Characterization of the oral microbiota and the relationship of the oral microbiota with the dental and periodontal status in children and adolescents with nonsyndromic cleft lip and palate. Systematic literature review and meta-analysis.

OBJECTIVE: To identify the characteristics of the oral microbiota and the relationship of the dental caries and periodontal status in patients aged 0 to 18 years with non-syndromic cleft lip and palate (CLP). MATERIALS AND METHODS: A systematic review of the literature was carried out. Five databases were consulted, including publications in English, Spanish and Portuguese. The evaluations of the quality of the observational studies and the experimental studies were carried out with the Newcastle-Ottawa scale and CONSORT guidelines, respectively. The risk of bias of the studies was determined using Rev Manager 5.4, and 5 publications were meta-analyzed. RESULTS: The cariogenic microbiota of children and adolescents with cleft lip and palate was similar to that of children without clefts, although with higher counts of Streptococcus mutans and Lactobacillus spp. The periodontopathogenic microbiota was related to the presence of Campylobacter spp, Fusobacterium spp, Fusobacterium nucleatum, Prevotella intermedia/nigrescens, Parvimonas micra and Porphyromonas gingivalis, considered microorganisms with high pathogenic capacity. Heterogeneity was shown in relation to the microbiota and the type of fissure, presenting numerous microorganisms associated with the pre- and post-surgical condition (cheilorrhaphy and palatorrhaphy) such as Staphylococcus aureus, Streptococcus beta hemolyticus, Klebsiella pneumoniae and Klebsiella oxytoca, Moraxella catarrhalis, Candida spp, Candida albicans, Candida krusei and Candida tropicalis. The meta-analysis revealed that patients with cleft lip and palate were 2.03 times more likely to have caries than the control group (p<0.005). CONCLUSION: In the microbiota, there was a great diversity of microorganisms that can vary according to the type of fissure and surgical interventions predisposing patients to a greater probability of dental caries, it is important to take into account the technique used to describe the oral microbiota in order to be able to compare the different studies. CLINICAL RELEVANCE: Studying the microbiota and the relationship of dental caries and periodontal status in children and adolescents with cleft lip and palate can facilitate the comprehensive care of patients with these conditions.

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.

Cone Beam-CT-Based Bone Volume Assessments of Alveolar Synthetic Bone Graft GlassBONE™ in Cleft Lip and Palate Patients: A Retrospective Study.

Background: Clefts of the lip and palate (CLP) are facial deformities that require multiple surgical procedures during childhood. One of these steps consists of filling the alveolar space with bone graft, traditionally removed from the iliac crest. However, this procedure could be invasive in children. Aim: Here, we aimed to evaluate the outcomes of GlassBONE™ graft, a bioactive glass used as a bone substitute, as an alternative to the deleterious autologous bone graft in children. Materials & methods: Retrospective monocentric study with 17 children aged 7.5 ± 2.2 yo [3.8-13.3 yo] carrying CLP. This technique has been established at La Timone Children hospital (Assistance Publique - Hôpitaux de Marseille) since 2011. Clinical (scar, graft rejection and periodontal status) and radiological (both panoramic radiographs and cone beam-CT) follow-up was conducted one year after the graft. The primary outcome was the reduction of the cleft volume, and secondary was the eruption of the adjacent tooth through the graft. Results: GlassBONE™ permitted a significant reduction in the cleft volume by 42.4 ± 27.7% [0.6-81.1%] (p < 0.0001), corresponding to a filling of 57.6 ± 27.7% of the alveolar cleft. GlassBONE™ is well tolerated, ensuring satifactory clinical results (improvement in both scar and periodontal coverage), as well as the physiological evolution of the germs through the biomaterial. GlassBONE™ appears particularly suitable for small volumes, and we were able to determine a minimum volume of approximtely 0.259 + / - 0.155 cc required for a successful bone fusion. Conclusion: The bioactive glass GlassBONE™ could be safely used in children with small CLP cases, providing satisfactory clinical and radiological results.

Telepractice Parent Training of Enhanced Milieu Teaching With Phonological Emphasis (EMT+PE) For Persian-Speaking Toddlers With Nonsyndromic Cleft Palate: Protocol for a Randomized Controlled Trial.

BACKGROUND: Children born with a cleft palate with or without a cleft lip (CP/L) are at increased risk for delayed language development and speech sound disorders. Enhanced Milieu Teaching with Phonological Emphasis (EMT+PE) is a recommended naturalistic intervention for toddlers with CP/L. The parents' role in providing naturalistic interventions is critical and they need training based on learning principles to implement these interventions. Telepractice is an appropriate method for training parents and children with various speech-related disorders. OBJECTIVE: This study aims to determine and compare the effectiveness of telepractice and the parent-implemented EMT+PE intervention on language and speech measures in toddlers with CP/L with usual interventions and determine the effectiveness maintenance of the intervention. METHODS: A randomized controlled trial (RCT) will assess the efficacy of telepractice and the parent-implemented EMT+PE intervention in enhancing speech and language measures in toddlers with CP/L. Eligible participants will be randomly assigned to one of 2 groups: the conventional intervention group and the EMT+PE intervention group. Participants' speech and language measures will be evaluated remotely by trained raters before and after the intervention and 2 months after the intervention. Parents of participants in the intervention group will receive 3 months of training in speech and language supportive strategies from trained therapists using telehealth fidelity scales. Parents of participants in the control group will receive the conventional speech and language intervention by cleft team therapists. Study outcomes will include language variables (mean length of utterance) and speech production variables (percent correct consonants). RESULTS: The protocol was approved by the Research Ethics Committee of the University of Social Welfare and Rehabilitation Sciences in February 2022. The selection process of participants, as well as training therapists and raters, commenced in January 2022, the therapy and follow-up period ended in June 2023, and pre- and postintervention assessments have been conducted. Data analysis is ongoing, and we expect to publish our results by the summer of 2024. Funding is yet to be received. CONCLUSIONS: The results of this study may help us develop a speech and language intervention with a different delivery model for toddlers with CP/L, and the cleft team care can use these results in service delivery. Consistent with our hypothesis, speech and language measures are expected to improve. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/54426.

3-Dimensional Evaluation of Two PNAM Techniques (Modified Grayson & AlignerNAM) on Facial Soft Tissue Morphology: A Randomised Clinical Trial.

OBJECTIVE: Evaluate facial changes after Presurgical Naso-Alveolar Molding (PNAM) in unilateral cleft lip and palate (UCLP) patients treated with Modified Grayson Technique and AlignerNAM (with DynaCleft nasal elevator) using a 3D facial scan. DESIGN: Randomised clinical trial. SETTING: Institutional study. Participants: 20 UCLP patients allocated to two groups (10 patients each). INTERVENTIONS: Group A patients underwent PNAM with Modified Grayson Technique and Group B patients underwent AlignerNAM (with DynaCleft nasal elevator). Their 3D facial scans were obtained by using an iOSbased application (Bellus3D FaceApp) mounted on a novel frame. These .stl files were analysed using 3D software (GOM INSPECT) at three-time intervals; before intervention (T0), after intervention (T1) and one month after lip repair surgery (T2). MAIN OUTCOME MEASURE(S): Changes in facial and nasolabial morphology. RESULTS: Both techniques brought significant improvement in the columellar length, nasal tip projection, columella angle, nasal tip angle and a significant reduction in cleft width. At T1, a statistically significant difference in angular and linear measurements was present in both groups. At T2, no statistically significant difference in linear parameters was observed between the two groups except for the outer lateral height of the non-cleft side, basal lateral height of the non-cleft side, and philtrum width. Similar pattern was observed in angular measurements with no statistically significant difference between the two groups except in nasolabial angle, anterior nasal base triangle III, and anterior nasal root triangle. CONCLUSIONS: Aligner NAM and Modified Grayson technique are equally effective PNAM methods with similar clinical results in nasolabial morphology after lip repair surgery.

Scar Outcome in Unilateral Complete Cleft Lip Repair: A Comparative Analysis of Vertical Lip Lengthening Strategies Using the Rotation-Advancement Concept.

OBJECTIVE: To assess the differences in scar outcomes between modified rotation-advancement techniques proposed by Drs. Mohler and Noordhoff, designed to address issues such as inadequate vertical lip length and scarring on the upper third of the lip in the original rotation-advancement technique. DESIGN: Retrospective single-surgeon (RD) study. PATIENTS: Consecutive non-syndromic children (n = 68) with unilateral complete cleft lip and palate. INTERVENTIONS: Modified Mohler (columellar backcut reconstructed with C flap; n = 34) and modified Noordhoff (lower, medially-created backcut reconstructed with laterally-based triangular skin flap; n = 34) repairs. MEAN OUTCOME MEASURES: Using 12-month postoperative frontal photographs, scar evaluations (overall and superior, middle, and inferior portions of the lip) were appraised by an assessment panel composed by independent professional and nonprofessional raters employing four validated qualitative scar assessment scales: Manchester Scar Scale, modified Scar-Rating Scale, Stony Brook Scar Evaluation Scale, and Visual Analog Scale. Quantitative computerized photogrammetric scar widths of the superior, middle, and inferior portions of the upper lip were also measured. RESULTS: The modified Noordhoff method showed significantly (all P < .001) better scar quality for the overall scar and superior portion of the scar in all four scales compared to the modified Mohler method, with no significant (all P > .05) difference for the middle and lower portions. No significant difference (all P > .05) was observed for photogrammetric scar width measurements. CONCLUSION: The modified Noordhoff technique provided better qualitative results for unilateral complete cleft lip-related scars compared to the modified Mohler technique.

Cleft Summit 2022: The Impact of a Unified Voice.

OBJECTIVE: The inaugural Cleft Summit aimed to unite experts and foster interdisciplinary collaboration, seeking a collective understanding of velopharyngeal insufficiency (VPI) management. DESIGN: An interactive debate and conversation between a multidisciplinary cleft care team on VPI management. SETTING: A two-hour discussion within a four-day comprehensive cleft care workshop (CCCW). PARTICIPANTS: Thirty-two global leaders from various cleft disciplines. INTERVENTIONS: Cleft Summit that allows for meaningful interdisciplinary collaboration and knowledge exchange. MAIN OUTCOME MEASURES: Ability to reach consensus on a unified statement for VPI management. RESULTS: Participants agreed that a patient with significant VPI and a dynamic velum should first receive a surgery that lengthens the velum to optimize patient outcome. A global, multicenter prospective study should be done to test this hypothesis. CONCLUSION: The 1st Cleft Summit successfully distilled global expertise into actionable best-practice guidelines through iterative discussions, fostering interdisciplinary collaboration and paving the way for a transformative multi-center prospective study on VPI care.

Evaluation of a 3D-Printed Cleft Palate Obturator Using a Low-Dose Cone Beam Computed Tomography Acquisition Protocol: A Proof-of-Concept Study.

Cone beam computed tomography (CBCT) technology is increasingly utilized in the head and neck region and is valuable in treatment planning for cleft palate patients, potentially enabling the creation of 3D-printed obturators to assist with feeding and speech. This technical report investigates the feasibility of using data from a 360-degree CBCT scan to accurately produce a cleft palate obturator and assesses whether a lower-dose 180-degree CBCT scan can achieve a comparable result. A simulated cleft palate was crafted on a dehydrated human skull, which was then scanned using both 360-degree and 180-degree CBCT scanning protocols. Two obturators were digitally designed based on the segmented images from each scan and subsequently 3D printed. Evaluation of the segmented images and 3D-printed obturators from both protocols demonstrated clear visualization of anatomical landmarks and identical scores across all parameters, suggesting that the 180-degree CBCT scan can produce an obturator of comparable quality to that of the 360-degree scan, with the added benefit of reduced radiation exposure.

The Effect of Platelet-Rich Fibrin and Platelet-Rich Plasma in Secondary Alveolar Bone Grafting in Cleft Lip and Palate Patients: A Systematic Review.

(1) Background: Cleft lip, alveolus, and palate are the most common congenital abnormalities in the world, occurring in one in seven hundred live births. Secondary alveolar bone grafting (SABG) is usually performed when the permanent canine root shows one-half to two-thirds of root development. To improve the surgical outcome, supplemental grafting materials such as platelet-rich fibrin (PRF) and platelet-rich plasma (PRP) have been used as an adjunct. This review is designed to assess the efficacy of PRF and PRP in improving the outcome of SABG. (2) Methods: A comprehensive literature search was performed until 13 October 2022 on MEDLINE, EMBASE, The Cochrane Library, and Pubmed. The full text of potentially relevant studies was reviewed, and only randomised clinical trials (RCTs) were included based on the inclusion criteria. (3) Results: A total of 656 studies were screened, of which four were included for final review. All of the four included studies that evaluated the quantitative or qualitative surgical outcome in varied ways. (4) Conclusions: Results of this review suggest that both PRF or PRP and control group (without the use of PRF/PRP) achieved similar successful outcomes in bone height, bone density, and bone volume in both qualitative and quantitative assessment.

Diagnostic Methods for the Prenatal Detection of Cleft Lip and Palate: A Systematic Review.

Background: Accurate prenatal diagnosis of cleft lip and palate is essential to discuss severity prediction, perform appropriate parental counseling, and, at last, establish long-term treatment planning. The aim of this systematic review was to analyze the accuracy of various imaging techniques for the prenatal diagnosis of cleft lip and palate, assess the pregnancy phase for orofacial clefts diagnosis, and study the different cleft types in terms of diagnostic methods, timing, and predictability. Methods: A search of the PubMed, EMBASE, Scopus, and Web of Science databases was conducted to identify potentially relevant studies published until January 2024. The quality of the selected articles was assessed using the Newcastle-Ottawa scale for methodological quality assessment of cohort studies and the QUADAS-2 scale for diagnostic test studies. Results: A total of 18 studies met the eligibility criteria and were included in the review. The findings of this review indicate that the majority of studies showed improved diagnostic accuracy when supplementary techniques, such as 3D ultrasound or magnetic resonance imaging, were added to 2D ultrasound. Conclusions: The implementation of magnetic resonance imaging as a standard procedure could significantly improve the precision of diagnosing cleft lip and palate. Therefore, the diagnostic technique used will play a crucial role in the accuracy of the diagnosis.

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.

Comparison of different maxillary advancement protocols in patients with unilateral cleft lip and palate: a finite element analysis.

OBJECTIVES: The aim of this study was to evaluate the stress distributions and possible amount of movement in the maxillofacial region resulting from different maxillary advancement protocols in patients with unilateral cleft lip and palate. MATERIALS AND METHODS: A unilateral cleft lip and palate model (CLP model) with Goslon score 4 was created for finite element analysis. Three different protocols were compared: Group 1: usage of a face mask with elastics placed at a 30? angle to the occlusal plane over a conventional acrylic plate; Group 2: usage of a face mask with elastics placed at a 30? angle to the occlusal plane over miniplates placed in the infrazygomatic crest region; Group 3: usage of elastic from the menton plate placed in the mandible to the infrazygomatic plates in the maxilla. RESULTS: Dental effects were greater in the maxillary protraction protocol with a face mask over a conventional acrylic plate (Von Misses Stress Values; Group 1?=?cleft side:0.076, non-cleft side:0.077; Group 2?=?cleft side:0.004, non-cleft side: 0.003; Group 3?=?cleft side:0.0025; non-cleft side:0.0015), whereas skeletal effects were greater in maxillary protraction protocols with face mask using skeletal anchorage (Von Misses Stress Values; Group 1:0.008; Group 2:0.02; Group 3:0.0025). The maximum amount of counterclockwise rotation of the maxilla as a result of protraction was observed in traditional acrylic plate face mask protocol, and the minimum amount was observed by using elastics between infrazygomatic plates and menton plate. CONCLUSIONS: In individuals with unilateral cleft lip and palate with Goslon score 4, it was observed that the skeletally anchored face mask caused more skeletal impact and displacement than both the traditional acrylic plate face mask model and the pure skeletally supported maxillary protraction model. CLINICAL RELEVANCE: When planning maxillary protraction treatment in patients with cleft lip and palate, it should be considered that more movement in the sagittal plane might be expected on the cleft side than the non-cleft side, and miniplate and screws on the cleft side are exposed to more stress when using infrazygomatic plates as skeletal anchorage.

The presence of a submucous cleft palate in patients with isolated cleft lip and middle ear dysfunction.

PURPOSE: Recent studies have suggested that children with an isolated cleft lip (CL) are more likely to develop middle ear disease and eustachian tube dysfunction (ETD) compared to the general population. This may be related to abnormal palatal musculature or an undiagnosed submucosal cleft palate (SMCP). We aim to determine the prevalence of SMCP in patients with CL who exhibit ETD. MATERIALS AND METHODS: A retrospective chart review was performed for children with an isolated CL requiring tympanostomy tubes over a 20-year period at an academic tertiary care medical center. Demographic, clinical, and surgical data were collected. RESULTS: Three hundred twelve patients had an isolated CL, and 29 (9.3 %) children required tympanostomy tubes. Of those, nine (31 %) were found to have a SMCP (7 males, 6 Caucasian). The average age at CL repair was 3.94 ± 1.03 months, and the average age at tympanostomy tube placement was 13.68 ± 13.8 months. All nine patients had chronic otitis media, with four having mild conductive hearing loss and three having moderate conductive hearing loss. The SMCP was diagnosed at the time of CL diagnosis (4), after CL diagnosis with the diagnosis of chronic otitis media/ETD (2) and after a diagnosis of chronic otitis media/ETD. CONCLUSION: Middle ear disease or eustachian tube dysfunction in a patient with an isolated cleft lip should raise suspicion for an accompanying undiagnosed SMCP.

The potential up-regulation risk of 3' UTR SNP (rs10787760 G > A) for the VAX1 gene is associated with NSCLP in the northwest Chinese population.

AIMS: To investigate the association between single nucleotide polymorphisms (SNPs) in 3'UTR region of VAX1, SYT14 and PAX7 genes and the risk of non-syndromic cleft palate (NSCLP) in a northwest Chinese population. MAIN METHODS: A case-control study was conducted in 406 normal controls and 399 NSCLP patients. Using iMLDRTM genotyping technology, eight SNPs of three genes ((rs10787760, rs7086344 at VAX1), (rs1010113, rs851114, and rs485874 at PAX7), and (rs61820397, rs4609425, rs12133399 at SYT14)) were genotyped to investigate the differences in alleles and genotype distribution frequencies between NSCLP patients and healthy controls. RNA Folding Form software was used to predict RNA secondary structure and expression vectors were constructed to explore the function of the relevant SNP. The effect of SNP polymorphism of gene transcription and translation was assessed using qPCR and Western blot analysis. KEY FINDINGS: Among the eight SNPs of three genes, rs10787760 of VAX1 gene was found to be associated with an increased risk of NSCLP (OR = 1.341,CI = 1.004-1.790) and the GA genotype of rs10787760 increased the risk of cleft lip and/or palate (CL/P) about 1.42 times (p < 0.05), and carrying the A allele might increase the risk of NSCL/P in male (OR = 1.356, 95 % CI = 1.010-1.823). But there was no association observed with cleft palate only (CPO). Cell function experiments revealed that the G to A mutation in rs10787760 up-regulated GFP-VAX1 transcriptional level by 2.39 and 3.13 times in two cell lines respectively, and enhance the protein expression of the VAX1 gene further. RNA secondary structure study showed that the rs10787760 (G > A) had two different secondary structures in 3'UTR region. SIGNIFICANCE: The rs10787760 variant in the 3'UTR region of VAX1 gene is associated with CL/P in northwest Chinese population. We hypothesize that the machanism of it might be caused by the RNA differenct fold in the 3'UTR region caused by the polymorphism of the gene. LEVEL OF EVIDENCE: Original Reports.

Comment on Ombashi, van der Goes, Versnel, Khonsari, van der Molen: guidance to develop a multidisciplinary, international, pediatric registry: a systematic review, Orphanet Journal of Rare diseases, 2023.

Recently, Ombashi et al. published a systematic review aiming to identify the pitfalls in the development and implementation as well as factors influencing long-term success of a multidisciplinary, international registry for cleft care on a global scale. The purpose of this letter to the editor is to highlight that the review failed to include the Swedish quality registry for patients born with cleft lip and palate, which fulfils the inclusion criteria. The Swedish cleft lip and palate registry is multidisciplinary, has a high coverage and reporting degree, and most outcome measures have been checked for reliability and validity. It is regularly used for open comparisons between treatment centers. Several research studies have been published based on the Swedish cleft lip and palate registry, and more are ongoing. The information we provide about the Swedish cleft lip and palate registry complements and expands the information of the results reported by Ombashi et al. in their research.

Cleft lip and palate surgery simulator: Open source simulation model.

Objective: Cleft lip and palate is the most common craniofacial birth anomaly and requires surgery in the first year of life. However, craniofacial surgery training opportunities are limited. The aim of this study was to present and evaluate an open-source cleft lip and palate hybrid (casting and three-dimensional (3D) printing) simulation model which can be replicated at low cost to facilitate the teaching and training of cleft surgery anatomy and techniques. Design: The soft tissue component of the cleft surgery training model was casted using a 3D printed 5-component mold and silicone. The bony structure was designed to simulate the facial anatomy and to hold the silicone soft tissue. Setting: Two groups, one group of trainees and one group of expert surgeons, at University Hospital Basel in Switzerland and Pontifical Catholic University of Chile in Santiago, Chile, tested the cleft lip and palate simulation model. Participants completed a Likert-based face and content validity questionnaire to assess the realism of the model and its usefulness in surgical training. Results: More than 70 % of the participants agreed that the model accurately simulated human tissues found in patients with unilateral cleft lip and palate. Over 60 % of the participants also agreed that the model realistically replicated surgical procedures. In addition, 80-90 % of the participants found the model to be a useful and appropriate tool for teaching the anatomy and surgical techniques involved in performing unilateral cleft lip and palate repair. Conclusion: This open-source protocol provides a cost-effective solution for surgeons to introduce the cleft morphology and surgical techniques to trainees on a regular basis. It addresses the current financial barrier that limits access to commercially available models during the early stages of surgeon training prior to specialization in the field.