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Background: An orofacial cleft significantly impacts the oral health-related quality of life of children and teenagers. Secondary reconstruction is a more complex procedure due to tissue deficiency and scarring. The study aimed to evaluate the use of Pfeifer's wave-line incision method and the rotational flap method in the secondary reconstruction of unilateral lip clefts in patients with unilateral cleft lip and ala nasi aged 5–25 years utilizing anthropometry assessment. Methods: It was a double-blinded, randomized, parallel-group, active-controlled trial with two arms. Twenty-four patients were randomly divided into two groups. Group 1: Rotational flap method. Group 2: Control group, Pfeifer's wave-line incision method. The following anthropometric measurements were considered: Lb(X):En-En: The horizontal position of the center of the cupid's bow. Ch-Lt(l:r): The distance between the cheilion and the tip of the cupid's bow. Lt-Lb(l:r): The length of the cupid's bow. Lt(Y)(l:r): The size of the upper lip. Lt-Lt'(l:r): The height of the vermilion at the tip of the cupid's bow. Photographs were performed according to the follow-up periods: At the baseline and before surgery (t0). Immediately after surgery (t1). Two weeks after surgery (t2). Six months after surgery (t3). Results: The rotational flap method did not outperform Pfeifer's method in the studied anthropometric measurements. In the rotational flap method group, there was a significant improvement in the mean value of Ch-Lt(l:r) from t0 (1.156 ± 0.206) to t3 (0.962 ± 0.098), and in the average value of Lt(Y)(l:r) from t0 (0.944 ± 0.023) to t3 (0.990 ± 0.011) (p < 0.05). In Pfeifer's method group, the mean value of Ch-Lt(l:r) was (1.141 ± 0.158) at t0, and then improved to become (1.007 ± 0.084) at t3 (p < 0.05), the average value of Ch-Lt(l:r) at t0 was (0.942 ± 0.026), which improved to (0.991 ± 0.012) at t3, and the average value of Lt-Lt'(l:r) increased from t0 (1.308 ± 1.174) to t3 (1.050 ± 0.054) (p < 0.05). Conclusion: Pfeifer's wave-line incision and rotational flap methods achieve similar aesthetic results in the appearance of the lip or Cupid's bow after a 6-month follow-up. Trial registration: ISRCTN registry, ISRCTN36320776, registered 06 November 2024. [ABSTRACT FROM AUTHOR]

Objective: This study aims to systematically review and meta-analyze the electromyographic activity of masticatory muscles in cleft palate and non-cleft patients, and identify influencing factors. Design: Systematic Review and Meta-analysis Patients and Exposures: Patients with cleft lip/ palate Comparison: Patients without CL/P. Main Outcome Measures: Electrical activity of masseter and temporalis muscles at rest and during peak activation Results: After a comprehensive search in MEDLINE, Web of Science, EMBASE, Scopus, and Cochrane's CENTRAL up to December 2022, without language or date restrictions. Eligible trials were selected based on the PECO question and assessed for bias using Cochrane's ROBINS-E tool. Eight clinical trials with 474 participants were included in the review. Then relevant data was extracted from included studies using customized forms. A random-effects meta-analysis was performed to combine the results of the studies, meta-analyses showed that CL/P patients have elevated electrical activity in the masseter (P =.01) and temporalis (P = <.01) muscles at rest compared to non-cleft control patients. During maximum bite force, cleft patients exhibited a statistically significant decrease in electrical activity in both the masseter (P =.03) and temporalis (P = <.01) muscles. Conclusions: According to our meta-analysis, cleft patients exhibited increased resting muscle activity but decreased activity during maximum bite force, indicating reduced efficiency of masticatory muscles compared to non-cleft patients. These differences can be attributed to anatomical variations, compensatory mechanisms, and previous treatments. [ABSTRACT FROM AUTHOR]

Objectives: The aim of this study was to investigate whether a low‐dose cone‐beam computed tomography (CBCT) protocol provides diagnostically acceptable image quality for assessing bone healing after alveolar bone grafting. Material and Methods: The study cohort comprised 11 patients (aged 7–14 years) with orofacial clefts who had undergone alveolar bone grafting at Skåne University Hospital in Malmö, Sweden. During the postsurgical follow‐up at 6 months, each patient was assessed twice: once with a standard‐dose CBCT protocol and once with a low‐dose CBCT protocol, which in total corresponds to one CBCT examination made with the exposure settings recommended by the manufacturer. Among others, the assessed parameters included subjective image quality, as well as bone graft height, thickness, and integration. Results: No significant differences were found between the standard‐ and low‐dose protocols for most parameters (p > 0.05). Exceptions included subjective image quality (one observer, p = 0.05) and confidence levels during the assessment (three observers, p = 0.01, 0.01, 0.02). Conclusions: The low‐dose protocol yielded adequate image quality for postoperative CBCT healing assessment in patients who have undergone alveolar bone grafting. However, the confidence level of observers during the assessment with the low‐dose protocol was reduced. This study is registered on ClinicalTrials.gov (NCT06395077). Clinical Trial Registration: This study is registered on ClinicalTrials.gov (NCT06395077). [ABSTRACT FROM AUTHOR]

Background: Orofacial clefts are the most common craniofacial congenital malformation in humans. Approximately 30% of clefts arise as part of a syndrome or sequence, characterised by co-existing structural and functional anomalies. Many syndromes are thought to be undiagnosed, although the presence of multiple anomalies may indicate the presence of a syndrome or sequence. Aim: To determine the extent to which the presence of additional structural and functional anomalies can help to identify those children with an undiagnosed syndrome. Methods: Secondary data analysis was performed using data from 1701 children born with an orofacial cleft, collected as part of a longitudinal cohort study, the Cleft Collective. Data were collected between 2013 and 2023 across the United Kingdom. The prevalence of structural and functional anomalies and syndromes were explored using descriptive statistics. Logistic regression was used to determine the extent to which anomalies can predict syndromic status. Results: A syndrome and/or sequence was reported in 20.5% children. Among children who reported five or more anomalies, the prevalence of a diagnosed syndrome was 81.5%. When adjusting for cleft subtype and sex, in 27 out of 32 anomalies tested, strong evidence was found to suggest increased odds of having a syndrome if the specific anomaly was present compared to if the anomaly was absent (p-values ranged between 1.4 × 10−30 and 0.002). Conclusions: Children born with a cleft who present with two or more anomalies are much more likely to have a syndrome than those with fewer anomalies and should be prioritised for genetic screening and counselling. [ABSTRACT FROM AUTHOR]

Objective The current study delves into the accessibility of genetic evaluations for individuals with orofacial clefts (OC), comparing data between genetics and treatment centers across Brazil. Methods This cross-sectional retrospective study analyzed primary data from 1463 OC individuals registered in the Brazilian Database of Craniofacial Anomalies (BDCA) between 2008 and 2018 without age or sex selection. Diagnostic exam results stemming from research projects until 2023 were considered. Results Of the 1463 individuals with typical OC, 987 were non-syndromic, 462 were syndromic (SOC), 10 presented atypical forms, and three were not specified OC cases. The average age for accessing laboratory diagnosis was 8.5 years among SOC individuals. Notably, more SOC cases were registered in genetics centers than treatment and rehabilitation centers (37.1 % vs. 29 %, p = 0.0015). Those originating from genetics centers accessed diagnosis at an average age of 7.3 years, while those from treatment and rehabilitation centers experienced delays with an average age of 10.7 years (p = 0.0581). Conclusions Irrespective of the center of origin, the data highlight delayed diagnosis and challenges in accessing genetic tests for the syndromic group. Given the widespread reliance on the public health system by most of the Brazilian population, disseminating this data can significantly contribute to shaping an informed perspective on healthcare access. These insights can improve public policies tailored to the unique needs of individuals with OC. [ABSTRACT FROM AUTHOR]

Abstract Background Orbicularis oris muscle, the crucial muscle in speaking, facial expression and aesthetics, is considered the driving force for optimal lip repair. Impaired muscle regeneration remains the main culprit for unsatisfactory surgical outcomes. However, there is a lack of study on how different surgical manipulations affect lip muscle regeneration, limiting efforts to seek effective interventions. Methods In this study, we established a rat lip surgery model where the orbicularis oris muscle was injured by manipulations including dissection, transection and stretch. The effect of each technique on muscle regeneration was examined by histological analysis of myogenesis and fibrogenesis. The impact of tensile force was further investigated by the in vitro application of mechanical strain on cultured myoblasts. Transcriptome profiling of muscle satellite cells from different surgical groups was performed to figure out the key factors mediating muscle fibrosis, followed by therapeutic intervention to improve muscle regeneration after lip surgeries. Results Evaluation of lip muscle regeneration till 56 days after injury revealed that the stretch group resulted in the most severe muscle fibrosis (n = 6, fibrotic area 48.9% in the stretch group, P

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

This study investigated the occurrence and dynamics of oral Staphylococcus species in patients with orofacial clefts undergoing surgical rehabilitation treatment. Patients (n = 59) were statistically stratified and analyzed (age, gender, types of orofacial clefts, surgical history, and types of previous surgical rehabilitation). Salivary samples were obtained between hospitalization and the return to the specialized medical center. Microbiological diagnosis was performed by classical methods, and MALDI-TOF MS. MRSA strains (SCCmec type II, III, and IV) were characterized by the Decision Tree method. A total of 33 (55.9%) patients showed oral staphylococcal colonization in one, two, or three sampling steps. A high prevalence has been reported for S. aureus (including HA-, MRSA and CA-MRSA), followed by S. saprophyticus, S. epidermidis, S. sciuri, S. haemolyticus, S. lentus, S. arlettae, and S. warneri. The dynamics of oral colonization throughout surgical treatment and medical follow-up may be influenced by (i) imbalances in staphylococcal maintenance, (ii) efficiency of surgical asepsis or break of the aseptic chain, (iii) staphylococcal neocolonization in newly rehabilitated anatomical oral sites, and (iv) total or partial maintenance of staphylococcal species. The highly frequent clinical periodicity in specialized medical and dental centers may contribute to the acquisition of MRSA in these patients. [ABSTRACT FROM AUTHOR]

ABSTRACT Objectives The aim of this study was to investigate whether a low‐dose cone‐beam computed tomography (CBCT) protocol provides diagnostically acceptable image quality for assessing bone healing after alveolar bone grafting. Material and Methods The study cohort comprised 11 patients (aged 7–14 years) with orofacial clefts who had undergone alveolar bone grafting at Skåne University Hospital in Malmö, Sweden. During the postsurgical follow‐up at 6 months, each patient was assessed twice: once with a standard‐dose CBCT protocol and once with a low‐dose CBCT protocol, which in total corresponds to one CBCT examination made with the exposure settings recommended by the manufacturer. Among others, the assessed parameters included subjective image quality, as well as bone graft height, thickness, and integration. Results No significant differences were found between the standard‐ and low‐dose protocols for most parameters (p > 0.05). Exceptions included subjective image quality (one observer, p = 0.05) and confidence levels during the assessment (three observers, p = 0.01, 0.01, 0.02). Conclusions The low‐dose protocol yielded adequate image quality for postoperative CBCT healing assessment in patients who have undergone alveolar bone grafting. However, the confidence level of observers during the assessment with the low‐dose protocol was reduced. This study is registered on ClinicalTrials.gov (NCT06395077). Clinical Trial Registration This study is registered on ClinicalTrials.gov (NCT06395077).

Non-syndromic orofacial cleft (OFC) is the most common facial developmental defect in the global population. The etiology of these birth defects is complex and multifactorial, involving both genetic and environmental factors. This study aimed to determine if SNPs in the WNT gene family (rs1533767, rs708111, rs3809857, rs7207916, rs12452064) are associated with OFCs in a Polish population. The study included 627 individuals: 209 children with OFCs and 418 healthy controls. DNA was extracted from saliva for the study group and from umbilical cord blood for the control group. Polymorphism genotyping was conducted using quantitative PCR. No statistically significant association was found between four variants and clefts, with odds ratios for rs708111 being 1.13 (CC genotype) and 0.99 (CT genotype), for rs3809857 being 1.05 (GT genotype) and 0.95 (TT genotype), for rs7207916 being 0.86 (AA genotype) and 1.29 (AG genotype) and for rs12452064 being 0.97 (AA genotype) and 1.24 (AG genotype). However, the rs1533767 polymorphism in WNT showed a statistically significant increase in OFC risk for the GG genotype (OR = 1.76, p < 0.001). This research shows that the rs1533767 polymorphism in the WNT gene is an important risk marker for OFC in the Polish population. [ABSTRACT FROM AUTHOR]

This case report describes a rare occurrence of pyogenic granuloma (PG) in the hard palate deviating from its typical gingival location that led to the formation of an alveolar cleft. The aggressive growth pattern of the lesion, with atypical progression from a pedunculated nodule to an alveolar cleft, raised concern. The diagnosis was based on magnetic resonance imaging and computed tomography findings, which revealed a tadpole-shaped lesion originating from the midline hard palate. The differential diagnosis included a minor salivary gland tumor. Surgical excision was performed under general anesthesia and resulted in a mucosal defect without nasolabial fistula formation or bone exposure. The palatal defect was packed with oxidized regenerated cellulose and closed with Vicryl Rapide sutures, both of which contributed to the patient's successful outcomes. Our comprehensive approach, extending across the stages of surgical planning, execution, and postoperative care, demonstrated the advantages of a multidisciplinary strategy for the accurate diagnosis and effective treatment of palatal PGs. This report makes a meaningful contribution to the existing literature on common oral lesions by emphasizing the importance of a broad differential diagnosis and a systematic approach to oral pathologies. It also raises clinical awareness of PGs with atypical presentations and the diagnostic challenge that they pose. [ABSTRACT FROM AUTHOR]

Objectives: Children's of Mississippi at the University of Mississippi Medical Center serves as the state's only American Cleft Palate-Craniofacial Association--approved cleft team at the only pediatric hospital in the state. The goal of this study is to report geographic and demographic patterns of patients with orofacial cleft (OFC) treated at Children's of Mississippi, which are lacking. Methods: Patients with OFC treated at Children's of Mississippi from 2015 to 2020 were included. Demographic data were collected, including birth county and total live births from state data. Significant differences between incidence of OFC among public health regions of Mississippi were examined using analysis of variance ( P < 0.05). Cases were compared with historical data from 1980 to 1989. Results: Therewere 184 patientswho presented with OFC, with a statewide incidence of 0.83 per 1000 live births among 222,819 live births in the state across 6 years. The incidence of OFC was 0.83/1000 for Whites and 0.82/1000 for non-Whites versus a historical rate of 1.36 and 0.54, respectively. Significantly fewer children in the northern region (0.25/1000) were born with OFC than in central (1.21; P < 0.001) and southern (0.86; P < 0.001) regions. Conclusions: Results from this study suggest changing regional patterns of OFC in Mississippi. Although rates increased among non-White infants, the overall incidence of OFC has decreased compared with historical data. The findings may reflect actual incidence patterns in the state or the proximity of certain regions to Children's of Mississippi. Further studymay reveal regional differences in risk factors underlying OFC incidence, and/or issues with access to cleft care for different regions in the state. [ABSTRACT FROM AUTHOR]

Treatment outcome measures are critical in the decision making of best practices in the OFC field. OFC consortium working groups provided standardization of outcome measures based on previous treatment outcome studies. However, the implementation of such standardization in OFC centres worldwide is unknown. This study presented mapped outcome measures in cleft care using a structured review method complemented by quantitative overview of the relevant published research to provide initial guidelines for the implementation of treatment outcome standardization. A scoping review of the literature of treatment outcomes in cleft care following Preferred Reporting Items for Systematic reviews and Meta‐Analyses extension for Scoping Reviews guidelines was performed. The selected indexed paper in outcome measures mapped following the international consortium in standard set of outcome measures in cleft care. Three hundred and sixty‐five articles were filtered. The most discussed domains of cleft care were dental and oral health, appearance and speech/communication. Overall, the majority of publications were produced in high‐income countries. The current review indicates that there are inequalities of treatment outcome studies among the domain of cleft care. In addition, there are also inequalities of published articles from HIC versus LMIC in treatment outcomes. This information can be used to develop targeted interventions aimed at encouraging cleft centres worldwide to adapt standardized outcome measures. [ABSTRACT FROM AUTHOR]

Background: To investigate the association between tooth loss and oral potentially malignant disorders and oral squamous cell carcinoma, focusing on epidemiological factors and genetic variants. Methods: Case–control study, including histologically confirmed oral potentially malignant disorders and oral squamous cell carcinoma cases and healthy controls. Unadjusted and adjusted odds ratios for this association were calculated. Single‐nucleotides polymorphisms were tested for individuals with and without missing teeth. Results: Case individuals were more edentulous while controls had fewer missing teeth (p = 0.006). There was an increased risk for the outcomes associated with edentulism (OR = 6.95, p = 0.000), even after adjustments for educational level (OR = 4.7, p = 0.034) and smoking habits (OR = 5.01, p = 0.022). Among individuals with tooth loss, rs1533767 (WNT11), rs3923087, and rs11867417 (AXIN2) were associated with the outcomes (OR = 1.67, p = 0.03, OR = 0.53, p = 0.05, and OR = 0.42, p = 0.00, respectively). Conclusions: Tooth loss could increase the risk for oral potentially malignant disorders and oral squamous cell carcinoma. [ABSTRACT FROM AUTHOR]

Objective: This study assesses the degree of root curvature in patients with non-syndromic cleft lip and/or palate (NSCL/P). Design: Retrospective. Case-control study. Setting: Root curvature was assessed in lower premolars and molars in 800 panoramic radiographs: 400 from patients with cleft and 400 from healthy control individuals. Root curvature was classified according to its angulation, as well as its apical, medial, or coronal localization. Results: The frequency of mild curvature in the NSCL/P group compared to the control group was higher in premolars especially in the left second premolar in cleft palate (OR: 6.91; 95% CI: 3.23−14.77; P <.0001). The frequency of moderate curvature in molars was significantly higher in the cleft group, with the highest risk in the right first molar in the cleft lip group (OR: 2.74; 95% CI: 1.67−4.52; P <.0001). Inclination was more frequently observed in the apical third of the root in the group with cleft, whereas for the control group, the curvature was more frequent in the medial third. In patients with cleft, the OR of curvature in the apical third was significant in premolars (left lower second premolar: Cleft lip, OR: 1.91; 95% CI: 1.04−3.52; P =.03; right lower second premolar: Cleft lip, OR: 1.91, 95% CI: 1.04−3.50; P =.03, cleft lip and palate, OR: 1.75; 95% CI: 1.12−2.73; P =.01). Conclusion: The results of the current study indicate differences in root curvature in patients with non-syndromic cleft lip and/or palate, which should be considered during the dental treatment planning of patients. [ABSTRACT FROM AUTHOR]

The aim was to establish a specific and definite connection between non‐syndromic orofacial cleft patients and associated congenital heart disease (CHD). Following PRISMA guidelines, selective databases were searched for data collection. Studies showing a definite association of CHD with orofacial cleft were included, and studies non‐specific of the association of orofacial cleft with CHD were excluded. Data extraction criteria were study design, frequency of CHD in overall non‐syndromic orofacial cleft and in specific cleft type, and most prevalent congenital cardiac anomaly. DerSimonian Laird random effects model was used to estimate the pooled proportion of CHD, along with corresponding 95% confidence intervals (CIs) for each measure. Publication bias was assessed using Fail‐Safe N analysis and the Rosenthel approach. Of a total of 182 articles searched, only 30 studies were assessed. The overall pooled estimate of the proportion of CHD in total cleft lips/palates was 16% (95% CI: 13–19). The odds of developing CHD in cleft palates was 4.08 times more as compared to cleft lips with 95% CIs of 3.86–4.33, and 1.65 more as compared to cleft lips and palates both with 95% CI of 1.52–1.68. We affirm the upsurging prevalence of CHD in non‐syndromic cleft children and vehemently propose that it is of utmost importance to inculcate it in practice and policy‐making to screen all non‐syndromic orofacial cleft children for congenital cardiac anomaly. This study was registered on PROSPERO (ID no. CRD42023391597) on February 24, 2023. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the relationship between different environmental risk factors and the severity of cleft lip with/without palate (CL ± P) and cleft palate (CP) in Saudi Arabia. Methods: This was a cross-sectional national study, of government hospitals in 10 cities distributed across major regions of Saudi Arabia, from June 2020 to June 2021. All newborns with CL ± P or CP were clinically examined and evaluated for cleft phenotype severity using the LAHSHAL classification system. Various environmental factors were evaluated by interviewing parents using a validated questionnaire. The severity of CL ± P and CP was evaluated in relation to environmental factors. Results: We recruited 174 patients with non-syndromic orofacial cleft (NSOFC); 122 (70.1 %) had CL ± P and 52 (29.9 %) had CP. After adjusting the odds ratios by ordinal regression for CL ± P and logistic regression analysis for CP, environmental factors that significantly increased the severity of CL ± P were family history of NSOFC, maternal illnesses, and maternal medication use (P = 0.02, adjusted odds ratio [AOR]:2.70; P = 0.002, AOR:3.70; and P = 0.03, AOR:2.14, respectively). Folic acid supplementation in the first trimester significantly reduced the severity of CL ± P and CP (P = 0.001, AOR:0.18 and P = 0.001, AOR:0.012, respectively). Conclusion: The severity of CL ± P was affected by some maternal exposures during the 3-month pre-gestation period. Therefore, our results suggest the possibility of controlling the severity of NSOFC.

Abstract Background Educating and raising awareness in cleft lip and palate future generations is one vital effort to ensure the improvement of cleft care and research in the future. This study reported the overview in organising and evaluating the Massive Open Online Course (MOOC) in Cleft Lip and Palate as the alternative way for students’ capacity building outside their study program whilst also earning credits towards their studies. Methods Smile Train cleft charity generously donated recorded lectures from cleft experts around the world in which each of the experts agreed to provide one-hour live discussion sessions. The learning activities ranging from lectures, pre- and post-course evaluation, forum, live discussion sessions, virtual visits to Indonesian Cleft Centre, self-reflection assignments and final project. A survey was released to the participants to collect their feedback. Results The course mainly attracted dental students, and several allied health professional students. In total, 414 out of 717 participants registered for this MOOC managed to finish the course and received a certificate of completion which was run between August–October 2021. In general, participants positively received the course. Conclusions The MOOC model and its objective of disseminating widespread information across geographical boundaries to enhance learning about cleft lip and palate treatment was achieved. This report serves as an example for other educational institutions and stakeholders who plan to use online educational engagement platforms to provide high-quality education and capacity building to participants in lower-middle income countries.

Objective: To investigate the overall and type‐specific prenatal detection rates (DRs) of orofacial clefts in a national cohort in Denmark. Methods: This study was based on data from the Danish Fetal Medicine Database and included all fetuses and children from singleton pregnancies diagnosed with an orofacial cleft prenatally and/or postnatally between 2009 and 2018. The types of cleft included unilateral, bilateral or median cleft lip (CL); unilateral, bilateral or median cleft lip with secondary cleft palate (CLP); and cleft palate (CP). The clefts were grouped as cleft lip with or without cleft palate (CL(P)) or as all clefts (including CP). All cases with discordance between prenatal and postnatal diagnoses were validated in the local patient files (Astraia). Cases without prenatal validation of the postnatal diagnosis were marked as undetected. Postnatally diagnosed cases with a strong prenatal suspicion of a cleft but without an International Classification of Diseases‐10 code were registered as prenatally detected. Termination of pregnancy and intrauterine death were registered as true positives even if no autopsy could be performed. Liveborn cases with a prenatal diagnosis but without a postnatal validation were excluded. Results: A total of 994 cases were included in the study, of which 933 were liveborn. The prevalence of orofacial cleft was 1.6 per 1000 live births. There were no differences in the baseline characteristics between detected and undetected cases. The DR for CL(P) was 71.7% (95% CI, 64.8–78.9%), with an increase from 60.0% in 2009 to 73.0% in 2018 (P = 0.018). The type‐specific DRs for the entire period were 56.4% (95% CI, 45.0–67.6%) for unilateral CL; 76.6% (95% CI, 71.7–82.9%) for unilateral CLP; 70.5% (95% CI, 52.1–87.6%) for bilateral CL; 82.3% (95% CI, 70.6–93.6%) for bilateral CLP; 0% (0/6) for median CL; 75.0% (3/4) for median CLP; and 3.3% (95% CI, 0.6–5.7%) for CP. A total of 20.9% (208/994) of the cases had associated findings, of which 33.2% (69/208) were genetic aberrations. Conclusions: The DR for CL(P) has improved in Denmark over the last decade. The DR for CLP is high, with the highest DR for bilateral CLP. However, prenatal detection of CP remains a challenge. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Objectives: To determine pre-operative cleft volume and evaluate cleft´s impact on surrounding anatomical structures in children and adolescents with orofacial clefts using cone bean computed tomography (CBCT) imaging. Methods: The present retrospective study retrieved CBCT examinations of 68 patients from a previous study. The examinations had been exposed either before (n = 53) or after (n = 15) alveolar bone grafting. Pre-operative volume of cleft was determined, and type and location were evaluated. Morphological changes on the adjacent anatomical structures, including the incisive foramen, the nasal septum and floor, and the inferior turbinate, were assessed. Results: Mean bilateral cleft volume was 0.76 cm3, while mean unilateral cleft volume was 1.08 cm3; the difference was significant (p < 0.001). Variation in cleft volume, however, was large. The incisive foramen was not visible in the majority of cases with bilateral clefts (71%); the difference was significant (p = 0.001). In cases with unilateral clefts, the nasal septum in 87% was curved towards the cleft or graft side. Also, the mean size of the widest part of the inferior turbinate was 8.8 mm on the cleft or graft side and 10.4 mm on the non-cleft side. The difference was significant (p < 0.001). Conclusions: When required, CBCT is a feasible method for quantitatively illustrating alveolar clefts and their impact on the morphological development of surrounding structures. Variation in cleft volume was large. [ABSTRACT FROM AUTHOR]

To evaluate the relationship between different environmental risk factors and the severity of cleft lip with/without palate (CL ± P) and cleft palate (CP) in Saudi Arabia. This was a cross-sectional national study, of government hospitals in 10 cities distributed across major regions of Saudi Arabia, from June 2020 to June 2021. All newborns with CL ± P or CP were clinically examined and evaluated for cleft phenotype severity using the LAHSHAL classification system. Various environmental factors were evaluated by interviewing parents using a validated questionnaire. The severity of CL ± P and CP was evaluated in relation to environmental factors. We recruited 174 patients with non-syndromic orofacial cleft (NSOFC); 122 (70.1 %) had CL ± P and 52 (29.9 %) had CP. After adjusting the odds ratios by ordinal regression for CL ± P and logistic regression analysis for CP, environmental factors that significantly increased the severity of CL ± P were family history of NSOFC, maternal illnesses, and maternal medication use (P = 0.02, adjusted odds ratio [AOR]:2.70; P = 0.002, AOR:3.70; and P = 0.03, AOR:2.14, respectively). Folic acid supplementation in the first trimester significantly reduced the severity of CL ± P and CP (P = 0.001, AOR:0.18 and P = 0.001, AOR:0.012, respectively). The severity of CL ± P was affected by some maternal exposures during the 3-month pre-gestation period. Therefore, our results suggest the possibility of controlling the severity of NSOFC. [ABSTRACT FROM AUTHOR]

Background: Orofacial clefts (OFCs) include cleft palate (CP), cleft lip (CL), and cleft lip with cleft palate (CLP) and require multidisciplinary healthcare services. Alberta, Canada has a publicly funded, universal access healthcare system. This study determined publicly funded healthcare costs for children with an OFC and compared these costs to children without congenital anomalies. Methods: This retrospective population‐based cohort analysis used the Alberta Congenital Anomalies Surveillance System to identify children born between 2002 and 2018 with an isolated OFC. They were matched 1:1 to a reference cohort based on sex and year of birth. The study population included 1614 children, from birth to 17 years of age linked to administrative databases to estimate annual inpatient and outpatient costs. Average annual all‐cause costs were compared using two‐sample independent t tests. Results: The mean total cleft‐related costs per patient were highest for children with CLP ($74,138 CAD, standard deviation (SD) $43,447 CAD), followed by CP ($53,062 CAD, SD $74,366 CAD), and CL ($35,288 CAD, SD $49,720 CAD). The mean total all‐cause costs per child were statistically significantly higher (p <.001) in children with an OFC ($56,305 CAD, SD $57,744 CAD) compared to children without a congenital anomaly ($18,600 CAD, SD $61,300 CAD). Conclusions: Despite public health strategies to mitigate risk factors, the trend for OFCs has remained stable in Alberta, Canada for over 20 years. The costs reported are useful to other jurisdictions for comparison, and to families, healthcare professionals, service planners, and policy makers. [ABSTRACT FROM AUTHOR]

Objective: Orofacial clefts are one of the most common abnormalities that occur in the orofacial area. Due to their high prevalence, special attention provided to risk factors and their possible involvement in the occurrence of orofacial clefts is of importance. The objective of this study was to review the current global occurrence of orofacial clefts and the possible linkage of previously investigated risk factors to the occurrence of orofacial clefts. Review: The risk factors of orofacial clefts can be classified into two groups, modifiable risk factors and non-modifiable risk factors. Due to the extent of elaboration of each risk factor in each group, this current narrative review is limited to several mostly investigated risk factors, which included a review of parental age, sexual disparities, educational attainment, and income. Studies indicate that Asians are more likely than other races to have orofacial clefts, with a higher incidence rate in men than in women. There is evidence that the age of the parents is associated with the chance of the occurrence of orofacial cleft. The prevention of orofacial clefts and the distribution of medical resources depend heavily on a thorough understanding of epidemiology on a global scale. Nevertheless, the earlier studies concentrated on more developed nations or areas, and registry data from low-income nations had significant gaps. The findings of this narrative review can be used as the scientific basis for further research within this area. Conclusion: The occurrence rate of orofacial clefts remains high in several regions. Possible associations between parental age, sexual disparities, educational attainment, and family income to the occurrence of orofacial clefts remain contradictory, indicating the importance of further research to obtain more insights. [ABSTRACT FROM AUTHOR]

Background: The pathogenesis of orofacial cleft (OFC) is multifactorial, involving both genetic and non-genetic factors, the latter of which play a key role in the development of these anomalies. This paper addresses the incidence of OFC in Indonesia, with a focus on identifying and examining the distribution of contributory factors, including parental medical history, pregnancy history, and environmental influences. Methods: The study was conducted through the collection of primary data. An interdisciplinary research team from Indonesia administered a standardized questionnaire to parents who had children with OFC and who had provided informed consent. The case group comprised 133 children born with cleft lip and/or palate, and the control was 133 noncleft children born full-term. The risk factors associated with OFC anomalies were analyzed using the chi-square test and logistic regression. All statistical analyses were performed using SPSS version 25. A p-value of 0.05 or less was considered to indicate statistical significance. Results: The study comprised 138 children, of whom 82 were boys (59.4%) and 56 were girls (40.6%). Among them, 45 patients (32.6%) presented with both cleft lip and cleft palate, 25 individuals (18.1%) had a cleft palate only, and 28 patients (20.3%) had a cleft lip only. OFC was found to be significantly associated with a maternal family history of congenital birth defects (p< 0.05), complications during the first trimester (p< 0.05), consumption of local fish (p< 0.05), caffeine intake (p< 0.05), prolonged medication use (p< 0.05), immunization history (p< 0.05), passive smoking (p< 0.05), and X-ray exposure during pregnancy (p< 0.05). Conclusion: The findings indicate close relationships between the incidence of OFC and maternal medical history, prenatal factors, and environmental influences. [ABSTRACT FROM AUTHOR]

Copyright of Ginecología y Obstetricia de México is the property of Federacion Mexicana de Ginecologia y Obstetricia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Orofacial clefts (OFCs), including cleft lip (CL), cleft palate (CP), and CL with palate (CL/P), are relatively common congenital birth defects occurring in approximately 1 in 500 to 1 in 2500 live births. Detecting OFCs during prenatal ultrasound screening is crucial for informed decision-making and multidisciplinary medical care. This review provides a practical guide for routine and advanced screening for OFCs during mid-pregnancy. The Maarse classification system facilitates effective communication among the multidisciplinary team, categorizing OFCs into five types. Basic ultrasound views encompass coronal, sagittal, and axial imaging of the face and hard palate. Additional visualization techniques are employed in case of suspected anomalies during the initial screening. Advanced ultrasound views provided by the expert in prenatal OFC diagnosis include imaging of the posterior edge of the hard palate and the posterior part of the soft palate. Detected OFCs exhibit a range of severity and affect different structures, underscoring the importance of accurate detection and classification for appropriate treatment planning. Implementing a standardized screening protocol for OFCs is essential. By enhancing detection rates and enabling early diagnosis, prenatal ultrasound screening contributes to improved patient outcomes and facilitates timely intervention by the multidisciplinary team. In conclusion, this review emphasizes the significance of standardized protocols and specialized techniques for prenatal ultrasound screening of OFCs. Early detection and classification of these malformations play a vital role in comprehensive management, ensuring that affected individuals and their families receive the appropriate care and support they need.

(1) Background: Cleft lip and palate is the most common congenital malformation of the head and neck. After surgical closure, velopharyngeal dysfunction can arise, which has implications for phonation, sucking, swallowing, middle ear function, and interpersonal well-being. This case series aimed to present an adaptation of the conventional pharyngeal obturator design in order to allow its use with fixed orthodontic appliances. (2) Methods: A new custom-made pharyngeal obturator device was built in order to enable a correct function of the velopharyngeal valve. The fabrication of the plate was made by altering the conventional Hawley retainer, replacing the Adams hooks with 0.9 mm spherical hooks and removing the buccal arch. (3) Results: The new pharyngeal obturator design was used in six cleft patients with fixed orthodontic appliances. The appliance was well tolerated and there was a slight improvement in auditory-perceptive evaluations. (4) Conclusions: The new pharyngeal bulb design proved to have good retention during fixed orthodontic treatment. Moreover, despite the short-term follow-up, it also showed a reduction in the severity of the hypernasality sentences.

This study investigated the occurrence and dynamics of oral Staphylococcus species in patients with orofacial clefts undergoing surgical rehabilitation treatment. Patients (n = 59) were statistically stratified and analyzed (age, gender, types of orofacial clefts, surgical history, and types of previous surgical rehabilitation). Salivary samples were obtained between hospitalization and the return to the specialized medical center. Microbiological diagnosis was performed by classical methods, and MALDI-TOF MS. MRSA strains (SCCmec type II, III, and IV) were characterized by the Decision Tree method. A total of 33 (55.9%) patients showed oral staphylococcal colonization in one, two, or three sampling steps. A high prevalence has been reported for S. aureus (including HA-, MRSA and CA-MRSA), followed by S. saprophyticus, S. epidermidis, S. sciuri, S. haemolyticus, S. lentus, S. arlettae, and S. warneri. The dynamics of oral colonization throughout surgical treatment and medical follow-up may be influenced by (i) imbalances in staphylococcal maintenance, (ii) efficiency of surgical asepsis or break of the aseptic chain, (iii) staphylococcal neocolonization in newly rehabilitated anatomical oral sites, and (iv) total or partial maintenance of staphylococcal species. The highly frequent clinical periodicity in specialized medical and dental centers may contribute to the acquisition of MRSA in these patients.

Recurrent oronasal fistula closure is a challenging phenomenon that has been managed with many surgical or flap techniques, such as local, regional, and distant flaps, with various modifications. Despite these options, the ideal method to repair this kind of chronic fistula has not yet been established. It is difficult to repair because recurrent surgical repairs or interventions cause this region to become more fibrotic with less vascular tissue, which considerably reduces the likelihood of closing this kind of fistula. For this reason, surgeons and researchers continue to work to overcome these obstacles by using more regional, vascular, and neighboring tissue. Classic cleft palate repair techniques use double-layered, nasal, and oral side closure and even a three-layered technique (e.g. plus levator veli palatini and tensor veli palatini muscular repair) in the soft palate region. Hence, we used partial orbicularis oris muscle with enough vascular supply to repair the nasal side and cheek mucosal flap to repair the oral side as a double-layered repair technique. Two years later, during routine patient follow-up, no complications were identified, and the patient’s satisfaction with this treatment was acceptable.

Cleft palate is the most common congenital orofacial defect in dogs. Although this topic has been extensively studied in experimental dogs, current literature on clinical patients is limited to case reports and small case series studies with many individual opinions based on experience. This narrative review summarizes the literature of the last 10 years with application to clinical practice, focusing on the preparation of the patient until surgery, options for surgical management, and perioperative complications. Surgical treatment must be performed to obtain separation between the nasal/nasopharyngeal and oral/oropharyngeal passages. This will allow the dog to have independent function and reduce clinical signs associated with food, water, and other foreign material entering the respiratory tract. Surgical treatment has good to excellent outcomes when the procedure is carefully planned and appropriately executed despite the high rates of postoperative oronasal fistula reported. [ABSTRACT FROM AUTHOR]

(1) Background: Cleft lip and palate is the most common congenital malformation of the head and neck. After surgical closure, velopharyngeal dysfunction can arise, which has implications for phonation, sucking, swallowing, middle ear function, and interpersonal well-being. This case series aimed to present an adaptation of the conventional pharyngeal obturator design in order to allow its use with fixed orthodontic appliances. (2) Methods: A new custom-made pharyngeal obturator device was built in order to enable a correct function of the velopharyngeal valve. The fabrication of the plate was made by altering the conventional Hawley retainer, replacing the Adams hooks with 0.9 mm spherical hooks and removing the buccal arch. (3) Results: The new pharyngeal obturator design was used in six cleft patients with fixed orthodontic appliances. The appliance was well tolerated and there was a slight improvement in auditory-perceptive evaluations. (4) Conclusions: The new pharyngeal bulb design proved to have good retention during fixed orthodontic treatment. Moreover, despite the short-term follow-up, it also showed a reduction in the severity of the hypernasality sentences. [ABSTRACT FROM AUTHOR]

Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction Environmental tobacco smoke (ETS) is associated with several congenital anomalies, including non-syndromic orofacial clefts (NSOFCs). This systematic review aimed to update the literature on the association between ETS and NSOFCs. Methods Four databases were searched up to March 2022, and studies that evaluated the association between ETS and NSOFCs were selected. Two authors selected the studies, extracted the data, and evaluated the risk of bias. Comparing the association of maternal exposure to ETS and active parental smoking with NSOFCs allowed for the creation of pooled effect estimates for the included studies. Results Twenty-six studies were deemed eligible for this review, of which 14 were reported in a previous systematic review. Twenty five were case-control studies, and one was a cohort study. In total, these studies included 2142 NSOFC cases compared to 118129 controls. All meta-analyses showed an association between ETS and the risk of having a child with NSOFC, based on the cleft phenotype, risk of bias, and year of publication, with a pooled increased odds ratio of 1.80 (95% CI: 1.51–2.15). These studies had a marked heterogeneity, which decreased upon subgrouping based on the recent year of publication and the risk of bias. Conclusions ETS exposure was associated with more than a 1.5-fold increase in the risk of having a child with NSOFC, showing a higher odds ratio than paternal and maternal active smoking. TRIAL REGISTRATION The study is registered on the International Prospective Register of Systematic Reviews database # CRD42021272909.

Non-syndromic orofacial cleft (OFC) is the most common facial developmental defect in the global population. The etiology of these birth defects is complex and multifactorial, involving both genetic and environmental factors. This study aimed to determine if SNPs in the WNT gene family (rs1533767, rs708111, rs3809857, rs7207916, rs12452064) are associated with OFCs in a Polish population. The study included 627 individuals: 209 children with OFCs and 418 healthy controls. DNA was extracted from saliva for the study group and from umbilical cord blood for the control group. Polymorphism genotyping was conducted using quantitative PCR. No statistically significant association was found between four variants and clefts, with odds ratios for rs708111 being 1.13 (CC genotype) and 0.99 (CT genotype), for rs3809857 being 1.05 (GT genotype) and 0.95 (TT genotype), for rs7207916 being 0.86 (AA genotype) and 1.29 (AG genotype) and for rs12452064 being 0.97 (AA genotype) and 1.24 (AG genotype). However, the rs1533767 polymorphism in WNT showed a statistically significant increase in OFC risk for the GG genotype (OR = 1.76, p < 0.001). This research shows that the rs1533767 polymorphism in the WNT gene is an important risk marker for OFC in the Polish population.

Recurrent oronasal fistula closure is a challenging phenomenon that has been managed with many surgical or flap techniques, such as local, regional, and distant flaps, with various modifications. Despite these options, the ideal method to repair this kind of chronic fistula has not yet been established. It is difficult to repair because recurrent surgical repairs or interventions cause this region to become more fibrotic with less vascular tissue, which considerably reduces the likelihood of closing this kind of fistula. For this reason, surgeons and researchers continue to work to overcome these obstacles by using more regional, vascular, and neighboring tissue. Classic cleft palate repair techniques use double-layered, nasal, and oral side closure and even a three-layered technique (e.g. plus levator veli palatini and tensor veli palatini muscular repair) in the soft palate region. Hence, we used partial orbicularis oris muscle with enough vascular supply to repair the nasal side and cheek mucosal flap to repair the oral side as a double-layered repair technique. Two years later, during routine patient follow-up, no complications were identified, and the patient’s satisfaction with this treatment was acceptable. [ABSTRACT FROM AUTHOR]

Individuals with orofacial cleft (OFC) may be at a higher risk of developing psychiatric disorders (PD) than the general population. We determined the risk of psychiatric diagnoses in children with OFC in Canada. This population-based retrospective cohort study used health administrative data from the province of Ontario, Canada. Children with OFC who were born between April 1, 1994, and March 31, 2017, in Ontario were matched to five non-OFC children based on sex, date of birth, and mother's age. We determined the rate of events and time-to-event for first diagnosis of PD in children aged ≥ 3 years (y), and for intellectual developmental delay (IDD) from birth. Risk factors for PD and IDD were assessed using 1-way ANOVA for means, Kruskal–Wallis for medians, and the χ2 test for categorical variables. There were 3051 children with OFC (matched to 15,255 controls), of whom 2515 patients with OFC (12,575 controls) had a complete follow-up to the third birthday. Children with OFC were more likely to have PD than controls (54.90 vs. 43.28 per 1000 patient-years, P <.001), with a mean age to first diagnosis of 8.6 ± 4.2 y. The cleft palate group had the highest risk (HR 1.33, 95% CI 1.18–1.49). Children with OFC also had a higher risk of IDD than non-OFC children (27.78 vs. 3.46 per 1000 patient-years, p <.001). Children born with OFC in Ontario had a higher risk of psychiatric diagnosis and IDD compared to controls. Further research is also required to better understand the predictors of variation in risk, including geographic location and the presence of congenital abnormalities, and identify potential areas for intervention. Level II. [ABSTRACT FROM AUTHOR]

Dental arch relationships (DARs) and palatal morphology (PM) were evaluated in in non-syndromic complete unilateral cleft lip and palate (UCLP) Italian patients after surgery. Pre- and postnatal factors affecting the results were investigated. Sixty-six children with UCLP (40 boys and 26 girls, with a mean age of 10.1 ± 2.9 years), predominantly Caucasian (77%), were consecutively enrolled in this cross-sectional study. Twenty children had received a one-stage protocol consisting of an early periosteal palate surgical repair and lip closure and forty-six were submitted to a staged surgical protocol with delayed palate repair (DPR). A single clinician collected data on their medical history and carried out a dental examination. The DAR and PM were graded on dental casts according to the Eurocran index and dichotomised as favourable and unfavourable based on the treatment outcome. Multiple logistic regression analyses demonstrated that female sex (OR = 6.08, 95% CI: 1.47–25.23, p = 0.013), DPR (OR = 4.77, 95% CI: 1.14–19.93, p = 0.032) and the use of a neonatal plate (OR = 4.68, 95% CI: 1.27–17.16, p = 0.020) increased the odds of having favourable DAR, while only DPR (OR = 9.76, 95% CI: 2.40–39.71, p = 0.001) was significantly associated with a favourable PM. Based on these findings, only DPR had a significantly favourable effect on both DAR and DM in Italian children with complete UCLP. [ABSTRACT FROM AUTHOR]

Objectives: The 3‐hydroxy‐3‐methyl‐glutaryl‐CoA reductase (HMGCR) is the enzyme controlling the rate‐limiting step in the synthesis of cholesterol, sterols, and isoprenoids in the mevalonate biosynthetic pathway. Impaired function of HMGCR in zebrafish produces craniofacial malformations and orofacial cleft, mainly affecting the post‐migratory neural crest cells with little earlier effect. Here we investigate morphogenetic and cellular mechanisms underlying the generation of these malformations. Methods: The morphology of chondrocytes in the lower jaw and the proliferation/apoptosis in the ethmoid plate were analysed in hmgcr1b mutants and in embryos treated with atorvastatin. In the ceratohyal of treated embryos, we measured the number and dimensions of chondrocytes. In the ethmoid plate, we performed proliferation and apoptosis assays to quantify the number of cells undergoing each process in both hmgcr1b mutants and pharmacologically treated embryos. All embryos were imaged using confocal microscopy and processed to obtain maximum intensity z‐projection. Results: The shortening of the ceratohyal is produced by a moderate reduction in the number of cells combined with isometric shrinkage of the chondrocytes. At the same time, the shortening of the ethmoid plate is due to a combination of a slightly diminished proliferation with massive abnormal apoptosis at the proliferation front. Conclusion: HMGCR function is necessary for the normal survival and morphology of chondrocytes during condensation and chondrogenesis in the developing palate and jaw. Further studies are required to establish the pathways through which HMGCR acts on apoptosis, proliferation, and cell size during normal craniofacial development. [ABSTRACT FROM AUTHOR]

Genome-wide association studies for non-syndromic orofacial clefting (OFC) have identified single nucleotide polymorphisms (SNPs) at loci where the presumed risk-relevant gene is expressed in oral periderm. The functional subsets of such SNPs are difficult to predict because the sequence underpinnings of periderm enhancers are unknown. We applied ATAC-seq to models of human palate periderm, including zebrafish periderm, mouse embryonic palate epithelia, and a human oral epithelium cell line, and to complementary mesenchymal cell types. We identified sets of enhancers specific to the epithelial cells and trained gapped-kmer support-vector-machine classifiers on these sets. We used the classifiers to predict the effects of 14 OFC-associated SNPs at 12q13 near KRT18. All the classifiers picked the same SNP as having the strongest effect, but the significance was highest with the classifier trained on zebrafish periderm. Reporter and deletion analyses support this SNP as lying within a periderm enhancer regulating KRT18/KRT8 expression.

Introduction: Orofacial cleft (OFC) has been one of the major common congenital anomalies exhibiting prominent ramifications allied with the medical, social, psychological, and economic strands. Most OFC occurrences do not have additional features, so they are categorized as nonsyndromic. The classification of the aforesaid complication has been directed toward the following categories: cleft lip (CL) with cleft palate, isolated CL, and finally the isolated cleft palate. The recent research concerning the aforementioned anomalies always searches for advanced novel inferences linked with the chromosomal perspectives since some of the specific genes are probably known to produce significant effects over the anomalies. Materials and Methods: Karyotyping was performed for all 130 cases of nonsyndromic cleft lip and palate (NSCLP). Aseptic collection of peripheral blood lymphocyte culture (PBLC) was performed from the patients using heparin vacutainers, and C-banding was done to confirm heterochromatic variations. Results: A total of 130 patients known to have the NSCLP were recruited for this study of which 88 cases (68%) had CL along with cleft palate, 18 cases (14%) had isolated CL and 24 cases (18%) had isolated cleft palate. Cytogenetic analysis by G-banding by Trypsin and Giemsa (GTG) banding in these patients revealed five cases (3.84%) with abnormal karyotype where a higher frequency of pericentric inversion in the analyzed region, specifically the chromosome 9, inv(9)(p11p13) was observed. Conclusion: The heteromorphisms or structural rearrangements involving the centromere were confirmed by centromere banding in two cases. Understanding the etiology with special inference on the above-said perspectives is significant to develop an effective strategy for the prevention and treatment of the individuals affected with the anomalies.

Abstract Background Orofacial clefts (OFCs) are common craniofacial abnormalities. This study aimed to compare the diagnostic and predictive values of prenatal ultrasonography (US) and magnetic resonance imaging (MRI). Methods We reviewed the newborn physical examinations or fetal autopsy data with OFCs. Between January 2013 and December 2018, the diagnoses resulting from prenatal US and MRI examination were compared retrospectively with the postpartum diagnoses. The diagnostic prediction of prenatal imaging was then determined. Results 334 infants were identified with OFCs by either newborn physical exam or stillborn autopsy. For detection of OFCs by US, the total accuracy (ACC), true positive rate (TPR), true negative rate (TNR), positive predictive value (PPV), and negative predictive value (NPV) were 99.9% (111,178/110,286), 81.9% (230/281), 99.9% (109,948/110,005), 80.1% (230/287), and 99.9% (109,948/109,999), respectively. For MRI, the ACC, TPR, TNR, PPV, and NPV were 99.8% (4,125/4,132), 89.8% (44/49), 99.9% (4,081/4,083), 95.7% (44/46), and 99.9% (4,081/4,086), respectively. When we compared the predictive values between prenatal US and MRI, there were significant differences in the PPV of OFCs (P

Most individuals with orofacial cleft require various healthcare services, including speech therapy. However, Filipino patients constantly face challenges in availing these services due to limitations in the healthcare system of the Philippines. This study aimed to explore the perceptions of patients with orofacial cleft on the factors that may serve as facilitators and barriers to speech intervention. A descriptive phenomenological approach to qualitative research was used to obtain an in-depth understanding of the perceptions of these patients. Semistructured interviews were conducted through online video conferences or mobile phone calls. Twenty-one participants were interviewed, most of who were mothers (90%) of children with orofacial cleft. Ten themes were derived from the transcripts. Five were categorized as facilitators, while the rest were considered as barriers. Generally, the respondents showed positive attitudes toward orofacial cleft, were aware of the communication and swallowing issues of the patients, and actively sought services to address these issues. Most barriers to speech intervention resulted from limited access to quality healthcare services and information. These findings highlight the importance of considering patient perspectives in clinical care. Maximizing facilitators and addressing barriers may improve access to universal healthcare among Filipinos with orofacial cleft. [ABSTRACT FROM AUTHOR]

INTRODUCTION Environmental tobacco smoke (ETS) is associated with several congenital anomalies, including non-syndromic orofacial clefts (NSOFCs). This systematic review aimed to update the literature on the association between ETS and NSOFCs. METHODS Four databases were searched up to March 2022, and studies that evaluated the association between ETS and NSOFCs were selected. Two authors selected the studies, extracted the data, and evaluated the risk of bias. Comparing the association of maternal exposure to ETS and active parental smoking with NSOFCs allowed for the creation of pooled effect estimates for the included studies. RESULTS Twenty-six studies were deemed eligible for this review, of which 14 were reported in a previous systematic review. Twenty five were case-control studies, and one was a cohort study. In total, these studies included 2142 NSOFC cases compared to 118129 controls. All meta-analyses showed an association between ETS and the risk of having a child with NSOFC, based on the cleft phenotype, risk of bias, and year of publication, with a pooled increased odds ratio of 1.80 (95% CI: 1.51-2.15). These studies had a marked heterogeneity, which decreased upon subgrouping based on the recent year of publication and the risk of bias. CONCLUSIONS ETS exposure was associated with more than a 1.5-fold increase in the risk of having a child with NSOFC, showing a higher odds ratio than paternal and maternal active smoking. [ABSTRACT FROM AUTHOR]

Background and Objectives : A national survey of cleft teams was undertaken to evaluate the current standard of care for patients with cleft lip and palate (CLP) in India as a part of Cleft Care India study. Design : This was a cross-sectional questionnaire-based study. Method : Cleft teams across India attending the 19th Annual Conference of the Indian Society of Cleft Lip and Palate were invited to complete the questionnaire. The questionnaire consisted of 18 questions that included demographics, institutional details, patient protocols, surgical technique, rehabilitation facilities, and accessibility. The data are descriptively reported. Results : A total of 112 centers completed the survey. Nongovernment organizations funded 87% of the cleft centers and 8% did not receive any funding. Only 39% of the centers had centralized cleft services providing multidisciplinary care. Speech therapy was provided either onsite or through referral at 90% of the centers, whereas audiology was provided only at 4% of centers. Feeding advice was routinely provided in 52% of centers. Millard technique was the most preferred technique for unilateral cleft lip repair (66%). The 2-flap technique (37%) and pharyngeal flap (48%) were the most common surgeries for cleft palate and pharyngoplasty, respectively. Although 54% of centers reported their patients to be interested in comprehensive care, 43% reported that their patients only wanted surgical correction. Conclusions : There is wide diversity in access to cleft care and clinical practices across centers in India. Further work is needed to evaluate the quality of care by assessing outcomes of centers treating patients with CLP. [ABSTRACT FROM AUTHOR]

Objective : This in silico study aims to investigate flaviviruses as an environmental factor in the etiology of nonsyndromic cleft lip and/or palate (CL/P). Design : A scoring method with 7 topics—disease, transplacental passage, tropism, cellular damage, reported case, analysis of genome similarity, and transcriptome between virus and host, was created based on literature and in silico experimentation. Viral genomes of NCBI virus were obtained and BLAST 2.12.0 was applied for the similarity analysis, adjusted to search for only human sequences related to CL/P with the statistical threshold defined for E-value ≤1. Results : Flaviviruses with high potential to cause CL/P were: serotypes 2, 3, and 4 of the Dengue virus and lineage 2 of the West Nile virus, while the Yellow Fever virus, Japanese encephalitis virus, Tick-borne encephalitis virus, and Saint Louis encephalitis virus presented with medium potential to cause CL/P. As for the Zika virus, even strains associated with microcephaly showed only medium potential. Conclusions : Dengue virus and West Nile virus presented with high potential to act as environmental factors in the etiology of CL/P. [ABSTRACT FROM AUTHOR]

Craniofacial development is a complex and tightly regulated process and disruptions can lead to structural birth defects, the most common being nonsyndromic cleft lip and palate (NSCLP). Previously, we identified FOS as a candidate regulator of NSCLP through family-based association studies, yet its specific contributions to oral and palatal formation are poorly understood. This study investigated the role of fos during zebrafish craniofacial development through genetic disruption and knockdown approaches. Fos was expressed in the periderm, olfactory epithelium and other cell populations in the head. Genetic perturbation of fos produced an abnormal craniofacial phenotype with a hypoplastic oral cavity that showed significant changes in midface dimensions by quantitative facial morphometric analysis. Loss and knockdown of fos caused increased cell apoptosis in the head, followed by a significant reduction in cranial neural crest cells (CNCCs) populating the upper and lower jaws. These changes resulted in abnormalities of cartilage, bone and pharyngeal teeth formation. Periderm cells surrounding the oral cavity showed altered morphology and a subset of cells in the upper and lower lip showed disrupted Wnt/β-catenin activation, consistent with modified inductive interactions between mesenchymal and epithelial cells. Taken together, these findings demonstrate that perturbation of fos has detrimental effects on oral epithelial and CNCC-derived tissues suggesting that it plays a critical role in zebrafish craniofacial development and a potential role in NSCLP.

Objective: Orofacial clefts are one of the most common abnormalities that occur in the orofacial area. Due to their high prevalence, special attention provided to risk factors and their possible involvement in the occurrence of orofacial clefts is of importance. The objective of this study was to review the current global occurrence of orofacial clefts and the possible linkage of previously investigated risk factors to the occurrence of orofacial clefts. Review: The risk factors of orofacial clefts can be classified into two groups, modifiable risk factors and non-modifiable risk factors. Due to the extent of elaboration of each risk factor in each group, this current narrative review is limited to several mostly investigated risk factors, which included a review of parental age, sexual disparities, educational attainment, and income. Studies indicate that Asians are more likely than other races to have orofacial clefts, with a higher incidence rate in men than in women. There is evidence that the age of the parents is associated with the chance of the occurrence of orofacial cleft. The prevention of orofacial clefts and the distribution of medical resources depend heavily on a thorough understanding of epidemiology on a global scale. Nevertheless, the earlier studies concentrated on more developed nations or areas, and registry data from low-income nations had significant gaps. The findings of this narrative review can be used as the scientific basis for further research within this area. Conclusion: The occurrence rate of orofacial clefts remains high in several regions. Possible associations between parental age, sexual disparities, educational attainment, and family income to the occurrence of orofacial clefts remain contradictory, indicating the importance of further research to obtain more insights.