Religiosity and alcohol use in adolescents with orofacial cleft: correlational study / Religiosidade e uso de álcool em adolescentes com fissura orofacial: estudo correlacional

ABSTRACT Objective: To evaluate the correlation between religiosity and alcohol use among adolescents with orofacial clefts. Methods: Cross-sectional study, developed in a Brazilian public and tertiary hospital, between December 2021 and March 2022. Data collection was hybrid, and three instruments were used: Sociodemographic Questionnaire, Durel Religiosity Scale, and the Alcohol Use Disorders Identification Test. For statistical analysis, the following tests were used: χ2, Fisher's Exact, Mann-Whitney and Spearman's Correlation Coefficient, in addition to analyses of linear correlation strength and bivariate logistic regression. The significance level adopted for all tests was 5% (p≤0.05). Results: 370 adolescents participated, with a mean age of 15.2 years (±1.8). Among them, 23 (5.4%) used alcohol riskly or harmfully, being more frequent among male adolescents (p=0.001), those of mixed race (p=0.046), attending high school (p=0.011), with no religion (p<0.001), or who did not attend religious services (p<0.001). Levels of organizational, non-organizational and intrinsic religiosity were significantly lower among adolescents with risky or harmful alcohol use (p=0.005; p<0.001 and p=0.002, respectively). There was a moderate correlation between risky or harmful alcohol use and non-organizational (r=0.31; p=0.002) and intrinsic (r=0.36; p<0.001) religiosity. Male adolescents (p<0.001; OR=6.58), closest in age to 18 years (p<0.001; OR=1.37), and non-practitioners of religion (p<0.001; OR=6. 48) presented higher odds of risky or harmful alcohol use. Conclusions: Adolescents with higher levels of organizational and intrinsic religiosity used less alcohol, while males, closest in age to 18 years, and non-practitioners of religion presented higher odds of using alcohol riskly or harmfully.

RESUMO Objetivo: Avaliar a correlação entre a religiosidade e o uso de álcool em adolescentes com fissura orofacial. Métodos: Estudo transversal, desenvolvido em um hospital público e terciário brasileiro entre dezembro de 2021 e março de 2022. A coleta de dados foi híbrida, e foram utilizados três instrumentos: Questionário Sociodemográfico, Escala de Religiosidade de Durel e o Alcohol Use Disorders Identification Test. Para a análise estatística foram empregados os testes: qui-quadrado, exato de Fisher, Mann-Whitney e o coeficiente de correlação de Spearman, além das análises de forças de correlação linear e de regressão logística bivariada. O nível de significância adotado para todos os testes foi de 5% (p≤0,05). Resultados: Participaram 370 adolescentes, com média de idade de 15,2 anos (±1,8). Entre eles, 23 (5,4%) usavam o álcool de forma arriscada ou prejudicial. A religiosidade organizacional, não organizacional e a intrínseca foram significativamente menos frequentes entre adolescentes que utilizavam o álcool de forma arriscada ou prejudicial (p=0,005; p<0,001 e p=0,002, respectivamente). Evidenciou-se correlação moderada entre o uso arriscado ou prejudicial do álcool e a religiosidade não organizacional (r=0,31; p=0,002) e a intrínseca (r=0,36; p<0,001). Apresentaram maiores chances de usar o álcool adolescentes do sexo masculino (p<0,001; odds ratio — OR=6,58), com idade mais próxima aos 18 anos (p<0,001; OR=1,37) e que não praticavam a religião (p<0,001; OR=6,48). Conclusões: Adolescentes com maiores níveis de religiosidade organizacional e intrínseca utilizaram menos frequentemente álcool de forma arriscada ou prejudicial, enquanto ser homem, possuir idade mais próxima aos 18 anos e não praticar a religião aumentou a chance de utilizar álcool.

Combining genetic and single-cell expression data reveals cell types and novel candidate genes for orofacial clefting.

Non-syndromic cleft lip with/without cleft palate (nsCL/P) is one of the most common birth defects and has a multifactorial etiology. To date, over 45 loci harboring common risk variants have been identified. However, the effector genes at these loci, and the cell types that are affected by risk alleles, remain largely unknown. To address this, we combined genetic data from an nsCL/P genome-wide association study (GWAS) with single-cell RNA sequencing data obtained from the heads of unaffected human embryos. Using the recently developed single-cell disease relevance score (scDRS) approach, we identified two major cell types involved in nsCL/P development, namely the epithelium and the HAND2+ pharyngeal arches (PA). Combining scDRS with co-expression networks and differential gene expression analysis, we prioritized nsCL/P candidate genes, some of which were additionally supported by GWAS data (e.g., CTNND1, PRTG, RPL35A, RAB11FIP1, KRT19). Our results suggest that specific epithelial and PA sub-cell types are involved in nsCL/P development, and harbor a substantial fraction of the genetic risk for nsCL/P.

Most common congenital syndromes with facial asymmetry: A narrative review.

Symmetry is present in various aspects of everyday life. A symmetrical face is considered attractive, whereas a lack of facial symmetry is regarded as a source of functional and aesthetic problems. Most of the people exhibit slight asymmetries, but some of them reveal severe asymmetries. Among patients presenting with severe facial asymmetries, there may be those with congenital defects. Congenital defects may manifest at the time of birth or be a result of birth trauma.One of the most prevalent asymmetrical birth defects is cleft lip and/or cleft palate. Other congenital defects include craniofacial syndromes, such as Treacher Collins syndrome (TCS) and Goldenhar syndrome. Among the rare syndromes with facial asymmetries, Klippel-Feil syndrome (KFS), PHACE (posterior fossa brain malformation, hemangiomas, arterial anomalies, cardiac anomalies, and eye abnormalities) syndrome, plagiocephaly, and Parry-Romberg syndrome are worth noticing. The majority of craniofacial asymmetries require surgery to improve the patient's facial appearance. The treatment is multidisciplinary and long, and the most common procedures involve reparative and regenerative surgeries. The aim of this review was to present the most common congenital defects with facial asymmetry.

Effect of maxillary advancement on velopharyngeal function in cleft lip and palate: 20 years of experience.

This retrospective study aimed to investigate the impact of orthognathic surgery with maxillary advancement (MA) on the velopharyngeal function (VF) in individuals with cleft lip and palate (CLP). The study included 651 patients with repaired CLP, both sexes, aged over 18 years who underwent MA alone or in combination with nasal procedures and/or mandibular osteotomy, operated between 2000 and 2019. The main outcome measures were nasalance (nasal text-NT and oral text-OT) and velopharyngeal orifice area measurement (VA), determined by nasometry and pressure-flow technique, respectively. Preoperatively, mean nasalance scores for NT and OT indicated normality, and VA demonstrated borderline-inadequate velopharyngeal closure in all patients. Following MA, a significant increase in nasalance scores for NT and OT occurred (p < 0.001), revealing hypernasality in those undergoing MA combined with nasal procedure (MAN, N = 191), bimaxillary orthognathic surgery with nasal procedure (BON, N = 227) and bimaxillary orthognathic surgery (BO, N = 151). Conversely, nasalance scores remained within the normal range for those undergoing isolated maxillary advancement (IMA, N = 82). VA exhibited a significant increase leading to the classification of VF as inadequate in the BON and MAN groups. Overall, MA contributed to VF deterioration, resulting in the appearance of hypernasality and increased VA, particularly when combined with nasal procedures.

Bridging Gaps in Health Literacy for Cleft Lip and Palate: Correspondence.

This is a correspondence on published article on health literacy on cleft lip and cleft palate. Issues on current problem and future directions are discussed.

A meta-analysis of the relationship between speech and language development in children with nonsyndromic cleft palate with or without cleft lip.

OBJECTIVE: Children with nonsyndromic cleft palate with or without cleft lip are at risk of speech production and language delays. In typical development, a strong relationship exists between speech and expressive language development. However, the understanding of this relationship in children with nonsyndromic cleft palate with or without cleft lip is incomplete. The objective of this study was to determine the average correlation between consonant inventory and two expressive language skills in children with NSCP ± L. DESIGN: The study used a random effects meta-analyses design. Articles were included by searching PubMed, APA PsycINFO, and ERIC. MAIN OUTCOME MEASURES: Correlations between consonant inventory and (1) expressive vocabulary and (2) mean length of utterance. RESULT: Based on eight studies representing 187 children with nonsyndromic cleft palate with or without cleft lip, consonant inventory was positively correlated with expressive vocabulary size (k = 8, z = 0.74, SE = .16, p < .001, [0.424, 1.052]). Using data from four studies, representing 83 children with nonsyndromic cleft palate with or without cleft lip, consonant inventory had a positive nonsignificant correlation with mean length of utterance (k = 4, z = 0.513, SE = 0.293, p = .081, [-0.063, 1.088]). CONCLUSION: Results support a connection between consonant inventory and expressive vocabulary size in children with nonsyndromic cleft palate with or without cleft lip across four languages. Small consonant inventories are often associated with expressive language delays.

The mediating role of life satisfaction in the effect of caregiving burden on mental well-being in parents of children diagnosed with cleft lip/palate.

PURPOSE: This study aimed to examine the effect of caregiving burden on the mental well-being of parents of children with cleft lip/palate, with life satisfaction as a mediator. DESIGN AND METHODS: This descriptive, cross-sectional study was conducted with a sample of 347 parents of children with cleft lip/palate. Data were collected through face-to-face interviews with the parents between March 18 and September 4, 2023. The data collection tools included a sociodemographic data form, the Zarit Burden Interview, the Warwick-Edinburgh Mental Well-Being Scale, and the Satisfaction with Life Scale. RESULTS: It was found that parents with a higher caregiving burden had lower levels of life satisfaction. Additionally, parents with higher life satisfaction reported better mental well-being. The findings indicated that as the caregiving burden increased, the mental well-being of the parents decreased. The results suggest that life satisfaction mitigates the negative impact of caregiving burden on mental well-being. CONCLUSION: These findings suggest that life satisfaction plays a significant mediating role in maintaining and supporting parents' mental health. Parents with higher life satisfaction appear to cope better with the challenges posed by caregiving burden, which in turn helps them maintain better mental well-being. PRACTICE IMPLICATIONS: The findings show that as the caregiving burden increases, both life satisfaction and mental well-being decrease. Therefore, it is crucial to develop practical interventions to support these parents.

Do Tunisian children with unilateral cleft lip and palate differ from normal individuals in dental maturity? A pilot study.

INTRODUCTION: Cleft lip and palate (CLP) is the most common congenital malformation of the head and neck. Children with CLP often exhibit dental anomalies. AIM: To evaluate the dental age (DA) of unilateral CLP in Tunisian children. METHODS: This was a cross-sectional study carried out in the department of pediatric dentistry at the University Hospital La Rabta, Tunis. Patients aged between 5 and 14 years, with no other congenital anomalies or syndromes in the craniofacial region other than CLP, were included. The patients' chronological ages were first calculated in years and months. DA was assessed in panoramic radiographs using Demirjian's method. The score of each stage is allocated, and the sum of the scores provides an evaluation of the subject's dental maturity. RESULTS: Fifty-three patients were included in the present study. No difference was observed between the two groups regarding the dental age. A strong and positive correlation between the DA and the chronological age in the two groups was observed (r=0.826). Estimated regression showed that chronological age alone explained 57,4% (r2=0.574) of the dental age variation in the study group and 64.5% (r2=0.645) in the control group. CONCLUSION: For dental management, CLP children should have the same approach in orthodontics and pediatric dentistry as individuals without clefts, with a focus on the individualization of diagnosis and treatment planning.

Personalized, performance-specific speech intervention in children with a cleft palate: A systematic review protocol.

BACKGROUND: The provision of speech intervention in children requires personalized, child-tailored approaches. Different speech-intervention approaches exist to eliminate cleft-related speech errors in children with a cleft palate. However, it is unclear what approach works best for the subtypes of cleft-related speech errors. AIMS: To describe a protocol for a systematic review that provides speech-language pathologists with the current literature concerning more individualized speech intervention in children with a cleft palate. METHODS & PROCEDURES: A systematic literature review was performed following the preferred reporting items for systematic reviews and meta-analyses. Two speech-language pathologists with clinical and scientific experience in cleft speech searched different electronic databases for relevant studies. No limit regarding publication date was set. Specific eligibility criteria were defined and used to include or exclude the studies. All included studies were evaluated with a risk-of-bias assessment tool and levels of evidence. Relevant data were extracted from the studies (study design, study population characteristics, intervention characteristics and outcome characteristics) and a narrative synthesis was performed. CONCLUSIONS & IMPLICATIONS: The findings of this systematic review will significantly contribute to the evidence on personalized speech intervention in children with a cleft palate. The study will inform speech-language pathologists on the possibilities to tailor treatment plans more to the specific subtype of cleft-related speech errors. The planned systematic review also makes recommendations for further cleft speech intervention research. WHAT THIS PAPER ADDS: What is already known on this subject At present, there is growing evidence for different speech therapy approaches in children with a cleft palate. Despite the recognized need for personalized, child-tailored therapy, there is no consensus on the best speech therapy approach per different subtype of compensatory cleft speech characteristic. What this study adds to the existing knowledge This paper provides a protocol for a systematic literature review of this topic. Specifically, it searches the literature for the use of personalized speech therapy approaches in children with different subtypes of compensatory cleft speech characteristics. What are the practical and clinical implications of this work? The systematic literature review provides speech-language pathologists with the current literature concerning personalized, performance-specific speech intervention in children with a cleft palate. Besides, the results will support therapy decision-making in children with a cleft palate in different speech-related clinical contexts.

Quality of Life and Psychosocial Outcomes Among Children With Cleft Differences.

Introduction Velopharyngeal insufficiency (VPI) and craniofacial differences can lead to diminished speech and swallowing function resulting in communication and social challenges throughout childhood. To monitor changes in patients' psychosocial health and velopharyngeal function, the Pediatric Symptom Checklist (PSC) and Velopharyngeal Insufficiency Effects on Life Outcomes (VELO) survey tools can be utilized. This study aimed to investigate the relationship between VPI quality-of-life outcomes and psychosocial disturbances through a comparative analysis of PSC and VELO parental surveys among children followed by a craniofacial team. Methods A retrospective chart review was completed using data from a single, multidisciplinary cleft and craniofacial team. Previously completed parental survey responses between 2010 and 2022 were collated and results were analyzed using a Spearman's rank correlation test (rs). Results There were 89 subjects who completed both surveys on the same day (n = 148 survey pairs (s)). Patients aged three to five years old (s = 88) had a mean VELO of 17.9 (0-65) and a mean PSC of 7.9 (0-27), while patients aged six to eight years old (s = 60) had a mean VELO of 16.6 (0-74) and a mean PSC of 12.0 (0-37). The strongest correlation observed for both age groups was between the total PSC and VELO Speech Limitations sub-scores (three to five years old: rs = 0.537, p < 0.001; six to eight years old: rs = 0.330, p = 0.010). Similarly, children in the six- to eight-year-old group with cleft lip and palate showed a correlation between the total PSC and VELO Speech Limitations (rs = 0.583, p < 0.001). Conclusion This study suggests a relationship between PSC and VELO scores among children ages three to eight years old with cleft differences and demonstrates that specific domains within the VELO questionnaire should be considered as being associated with a higher risk for psychosocial impairment. Specifically, higher VELO Speech Limitations sub-scores may portend a greater risk for poor psychosocial outcomes supporting the importance of early interventions in this group.

Hospital-based Costs to the National Health Service (UK) for Children and Adolescents Born with Cleft from Birth to 20 Years.

OBJECTIVE: The primary aim was to assess the cost (£) to the National Health Service (NHS) of hospital treatment for individuals born with bilateral cleft lip and palate (BCLP), unilateral cleft lip and palate (UCLP), and cleft palate (CP), from birth to 20 years. The secondary aim was to assess the number of scheduled clinical outpatient and inpatient/outpatient surgical visits for this cohort. DESIGN: Retrospective micro-costing analysis. SETTING: Patients treated within the South West of England Cleft Service (UK). PATIENTS: Twenty-three case-notes of children born with cleft (5 BCLP; 10 UCLP; 8 CP) were identified from birth up to and including secondary alveolar bone graft (ABG), and a second group of 23 hospital case-notes (3 BCLP; 10 UCLP; 10 CP) were identified, post-ABG to 20 years. RESULTS: Mean costs from birth to ABG were £17,004 (BCLP), £11,620 (UCLP), and £6137 (CP), and post-ABG to 20 years were £9,463, £7,945, and £3,816, respectively. The largest costs were for staff. Repeat surgery had a significant impact on costs. The mean number of clinical outpatient visits for BCLP, UCLP, and CP were 140, 110 and 83 respectively and 8, 6 and 2 for inpatient/outpatient surgical visits, respectively. CONCLUSIONS: Costs for provision of cleft care by the NHS are significant. The greatest costs were incurred with care for patients with BCLP. Patients were expected to attend many appointments, with BCLP experiencing the most visits. Engagement with quality improvement programmes to minimise repeat surgery, and remote consultation for certain appointments, to reduce the patient burden are recommended.

A Realistic Ingeniously Designed Cleft Palate Simulator for Training of Residents: Bridging the Gap Between Theory and Practice.

OBJECTIVE: Cleft palate is a congenital deformity that presents significant challenges in surgical correction. Proper training with an educational model for can greatly enhance the learning curve and improve patient outcomes. This article discusses the development and evaluation of an economical cleft palate model designed to enhance surgical skills and confidence among residents. DESIGN: The model was constructed using dental casts, acrylic resin, foam sheets, double-sided adhesives, infant feeding tubes, and red dye. SETTING: Tertiary care center. PARTICIPANTS: Surgical residents. MAIN OUTCOME MEASURE: The assembly time and material costs were recorded. To evaluate its effectiveness, participants' feedbacks were collected and analyzed. RESULTS: The cleft palate model was produced at a cost of 250 INR per unit, with assembly taking approximately 15 minutes. Overall, 32 residents completed the simulation exercise of cleft surgery on the model. Participants gave the model an average score of 4 (±0.60) for realistic anatomical appearance, 3.5 (±1.3) for replicating the tactile nature of human tissue. Anatomical accuracy and ability to manipulate tissue and perform suturing received a rating of 3.4 (±1.1) and 3.7 (±0.81), respectively. The model's value as a training tool scored 4.4 (±0.51), with an overall satisfaction rating of 4.6 (±0.22) among residents. CONCLUSION: Our cleft palate model offers an economical, practical, and accessible solution for surgical training. This model is a viable alternative to more complex and expensive training tools and potentially enhancing the training of healthcare professionals in cleft palate repair.

Palatal relaxing incisions versus nasopharyngeal relaxing incisions in Palatoplasty.

BACKGROUND: Bone denudation after conventional relaxing incisions could be a critical factor in inhibiting maxillofacial growth. To address this, alternative relaxing incisions were designed. Thus, this study aimed to compare the effectiveness of palatal relaxing incisions versus nasopharyngeal relaxing incisions in enhancing postoperative outcomes. MATERIALS AND METHODS: A retrospective cohort study was conducted, involving a total of 120 patients divided into three groups: 40 patients have received modified Furlow palatoplasty with nasopharyngeal relaxing incisions (M.F + N.P.I palatoplasty), and 40 patients who received modified Furlow palatoplasty with palatal relaxing incisions (M.F + P.R.I palatoplasty). The other 40 patients received original Furlow palatoplasty without relaxing incisions (F palatoplasty). Data collected included gender, cleft type, cleft width, age at repair, velopharyngeal function, presence of palatal fistula, and follow-up. The chi-square test compared frequencies of sex, cleft type, postoperative fistula, and velopharyngeal outcomes across groups. The Mann-Whitney and independent t-tests compared mean values, with statistical significance set at p < 0.05. RESULTS: The mean age at repair was similar across groups, with follow-up periods ranging from 5 to 11 years. No significant differences were found among the M.F + N.P.I and M.F + P.L.I groups regarding gender, cleft type, cleft width, and age at repair. However, the F group had a significantly narrowest cleft width compared to the other groups. Postoperative outcomes showed no significant differences in velopharyngeal function among the three groups, but the F group had a significantly higher rate of palatal fistula (32.5%) compared to the M.F + P.L.I (10%) and M.F + N.P.I (7.5%) groups. A comparison of the two modified Furlow techniques revealed no significant differences in velopharyngeal closure rates or the incidence of velopharyngeal insufficiency and persistent palatal fistula across different Veau classifications. CONCLUSIONS: While both incisions showed similar impacts on palatoplasty outcomes, palatal relaxing incisions may expose more bone and pose a higher risk of secondary healing issues. Therefore, nasopharyngeal relaxing incisions are recommended as an effective and potentially preferable technique in palatoplasty whenever feasible. CLINICAL RELEVANCE: The current study suggests that, whenever feasible, nasopharyngeal relaxing incisions are advised as an effective and potentially superior technique in palatoplasty.

AKT/mTOR-mediated autophagic signaling is associated with TCDD-induced cleft palate.

In utero exposure to the environmental contaminant 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) can contribute to high rates of cleft palate (CP) formation, but the mechanistic basis for these effects remains uncertain. Here, multi-omics-based metabolomic and transcriptomic analyses were employed to characterize the etiological basis for TCDD-induced CP on gestational day 14.5 (GD14.5). These analyses revealed that TCDD-induced CP formation is associated with calcium, MAPK, PI3K-Akt, and mTOR pathway signaling. PI3K-Akt and mTOR signaling activity is closely linked with the maintenance of cellular proliferation and survival. Moreover, mTOR-mediated regulation of autophagic activity is essential for ensuring an appropriate balance between metabolic activity and growth. Murine embryonic palatal mesenchymal (MEPM) cell proliferation was thus characterized, autophagic activity in these cells was evaluated through electron microscopy and western immunoblotting was used to compare the levels of autophagy- and AKT/mTOR-related protein between the control and TCDD groups on GD14.5. These analyses indicated that MEPM cell proliferative and autophagic activity was inhibited in response to TCDD exposure with the concomitant activation of AKT/mTOR signaling, in line with the multi-omics data. Together, these findings suggested that following TCDD exposure, the activation of AKT/mTOR-related autophagic signaling may play a role in the loss of appropriate palatal cell homeostasis, culminating in the incidence of CP.

Some oral microbiota in complete cleft infants in comparison with normal infants.

OBJECTIVE: To compare caries-related microorganisms and candida in complete cleft infants with normal palate infants. METHODS: The case-control study was conducted from April 2021 to January 2022 at the College of Dentistry, University of Baghdad, Baghdad, Iraq, and comprised infants with age ranging from 1 day to 4 months. They were divided into complete cleft group A and control group B. Group A was subdivided into those with class III Veau's palatal classification, and the rest with class IV Veau's palatal classification. Samples were taken using oral swab which were subjected to colony morphology, gram staining and biochemical testing. Data was analysed using SPSS 21. RESULTS: Of the 52 subjects, 26(50%) were in each of the 2 groups. The subgroups of group A had 13(50%) patients each. The counting and colonisation of streptococcus mutans, lactobacilli and candida albicans were significantly higher in group A than in group B (p<0.05). The difference between the subgroups of group A was not significant (p>0.05). CONCLUSIONS: Infants with cleft palate were more susceptible to dental caries and oral infection than those with normal palate.

Tongue dorsum activity in children with velopharyngeal insufficiency vs. typically developing children.

To investigate whether children with velopharyngeal insufficiency (VPI) exhibit increased elevation and retraction of the tongue dorsum. Two quantitative metrics of tongue dorsum activity: Dorsum excursion Index (DEI) and Tongue Constraint Position Index (TCPI) were captured using mid-sagittal images of the tongue obtained from Ultrasound Tongue Imaging. Participants: Six children with velopharyngeal insufficiency (VPI), six children with palate (w/wo cleft lip) without velopharyngeal insufficiency (wo VPI) and ten typically developing children aged 6-15 repeated six different consonants in aCa and iCi contexts five times. A linear mixed-effect model was used to examine the response variables across three groups. Overall, DEI was not significantly higher in the VPI group than in the other two groups. Also, TCPI was not significantly lower in the cleft palate group (VPI and wo VPI). However, significant differences were detected between certain phonetic contexts in the VPI group. In addition, a significant interaction between group and consonant was found in the context of /i/. These findings suggest that the presence of VPI may not lead to a uniform increase in tongue dorsum elevation or retracted position across all speech sounds. Rather, the articulatory behaviours of children with VPI may be influenced by the specific phonetic context and individual variability.

Association of rs8670 Polymorphism in the MSX1 Gene With Non-Syndromic Cleft Lip With or Without Cleft Palate in Malay Population.

OBJECTIVE: This study aimed to investigate the association between variants present in the MSX1 gene and the risk of developing non-syndromic cleft lip with or without cleft palate (NSCL±P) among individuals of Malay ethnicity in Malaysia. MATERIALS AND METHODS: This case-control study involved 89 patients with NSCL±P and 100 healthy control subjects. Polymerase chain reaction (PCR) was performed on both exon 1 and exon 2 of the MSX1 gene using four pairs of primers. The amplification products were then subjected to denaturing high-pressure liquid chromatography for initial screening, and the presence of a heteroduplex peak was validated using direct sequencing analysis to detect the single-nucleotide polymorphism. RESULTS: Five previously known variations (c.-36G>A, p.Ala30Ala, p.Ala34Gly, p.Gly110Gly, and rs8670: C>T) were detected within the MSX1 gene in both NSCL±P patients and controls.A significant association was found between the rs8670: C>T variant and NSCL±P (p = 0.017; OR: 0.368; 95% CI: 0.152 - 0.893), with this particular single-nucleotide polymorphism present in 20% (20) among controls and 7.9% (7) of the NSCL±P cases. CONCLUSIONS: Our data showed a lower incidence of the rs8670: C>T polymorphism among NSCL±P cases compared to control in this Malay population. However, since this variant is located in the 3'UTR, it could potentially impact the stability of MSX1 mRNA.

Construction of virtual airway model to assist surgical correction of velopharyngeal insufficiency with posterior pharyngeal flap.

OBJECTIVE: Posterior pharyngeal flap (PPF) is one of the most common surgical technique to correct velopharyngeal insufficiency(VPI), during which controlling the sizes of the lateral pharyngeal ports(LPP) is the key to outcomes. One innovative procedure was developed to well control the size of LPP. MATERIALS AND METHODS: 40 patients with repaired cleft palate were collected from June 2022 to August 2023. All patients were diagnosed with VPI, and treated with modified PPF surgery. For each patient, upper airway model was reconstructed, and the virtual airway model of PPF was designed. The nasal valve area was measured as it was considered to be the narrowest part of the upper airway. The upper airway resistances under different sizes of LPP was predicted through computational fluid dynamics analysis. The minimum size of each lateral pharyngeal port without obviously increase of upper airway resistance was calculated through effect of lateral pharyngeal ports' size on upper airway resistance. Postoperative follow-up was 6-18 months, including speech outcome and respiration outcome. Resting soft palate length (RVL), effective working length of soft palate (EWL) and angle of soft palate elevation (AVL) were measured and compared according to the lateral cephalometric radiograph. RESULTS: There was a linear relationship between the threshold value and nasal valve (R = 0.62). Among the forty patients, the average size of nasal valve was 47.81 mm2, the average size of the threshold value of LPP was 31.63mm2. The proportion of velopharyngeal closure competence after surgery was 95 %. Compared with the preoperative measurements, there were significantly increase of RVL, EWL and AVL (P < 0.05). There were significantly difference in the nasal obstruction symptom evaluation score in long-term follow-up compared to short-term follow-up (P < 0.05), and no one needed flap revision. There was no significant difference in nasal respiration and nasal resistance before and after surgery (P > 0.05). CONCLUSION: With the help of computer fluid dynamics analysis, it is possible to predict the threshold size of lateral pharyngeal port without obviously increasing upper airway resistance and reduce the risk of suffering from airway obstruction for patients undergoing PPF surgery.

Perception, attitude, and opinion of parents of cleft lip and palate patients treated with nasoalveolar molding (NAM): A cross-sectional questionnaire study.

BACKGROUND: The main goal of the nasoalveolar molding (NAM) is to mitigate the initial severity of the cleft, facilitating the subsequent surgical procedures. Nevertheless, the use of the appliance entails high stress levels for families. AIM: The aim of this study was to assess the perceptions, attitudes, and opinions of parents whose cleft-affected children underwent treatment using the NAM technique. DESIGN: A cross-sectional questionnaire study was conducted on a cohort of relatives of infants born with cleft lip and palate who were treated with the NAM appliance. The parents completed a 59-item questionnaire that had been previously validated. RESULTS: The initial cohort consisted of 104 families. The level of satisfaction was high, and there was a direct correlation with early diagnosis. Satisfaction levels varied depending on the cleft type, with a decrease in cases of bilateral presentation. Satisfaction was influenced by the newborns' adaptation and the absence of complications. Parents who exhibited lower levels of satisfaction contemplated terminating the treatment. CONCLUSIONS: Parents expressed high satisfaction with NAM treatment, due to effective management and understanding. Bilateral clefts and delayed diagnosis can significantly impact satisfaction. These results emphasize the importance of personalized approaches to address challenges in NAM treatment, particularly in instances of bilateral clefts and delayed diagnoses.

A Case of Multiple Tongue Hamartomas with Cleft Palate: 7 Years of Follow-Up.

Hamartoma is a congenital benign lesion commonly found in the lungs, kidneys, colon, and other regions, but it is seldom seen in the oral cavity. Multiple hamartoma occurrences in the tongue are particularly rare. This article describes a 7-day-old female infant with multiple tongue tumors and a cleft palate, who had difficulty feeding and subsequently underwent tumor removal under general anesthesia. Nine months later, a cleft palate repair was performed. No genetic abnormalities were detected in the genetic testing. After the tumor removal, follow-ups were conducted every year to observe any recurrence of the tumors, the morphology and function of the tongue, and any systemic abnormalities. After 7 years of follow-up, there was no recurrence of the tumors, and the morphology and function of the tongue were normal, with no systemic diseases found. It is crucial to conduct multidisciplinary consultations for children diagnosed with multiple tongue hamartomas and to monitor their overall development while addressing oral lesions.