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BACKGROUND: Pattern of dental anomalies encountered in cleft patients shows subtle signs of genetic involvement. This study aimed to evaluate the prevalence and pattern of tooth agenesis and supernumerary teeth in Thai cleft population according to the cleft type. METHODS: Data collected from patients with cleft lip and palate, who had been treated at Tawanchai Cleft Center, Khon Kaen University, Thailand, available during year 2012-2022, were investigated. Records from 194 patients with non-syndromic clefts met the inclusion criteria. Standard dental records, and at least either orthopantomogram (OPG) or cone beam computed tomography (CBCT), were examined. Statistical analysis was performed using chi-square and binominal test (p ≤ 0.05). RESULTS: Prevalence of tooth agenesis was higher (77.3%) than that of supernumerary teeth (5.7%) and was more common in bilateral cleft lip and palate (BCLP) (88.1%) than in unilateral cleft lip and palate (UCLP) (72.6%) (p = 0.017). The upper lateral incisor was more frequently affected (46.4%), followed by the upper second premolar. The number of missing teeth observed on the left side was significantly higher. Patients with left UCLP (ULCLP) had the highest prevalence of tooth agenesis. A total of 41 tooth agenesis code (TAC) patterns was found. The prevalence of supernumerary teeth was comparable with 6.6% of ULCLP, 5.1% of BCLP, and 4.5% of URCLP. Tooth-number anomalies were observed more often in the BCLP and were most likely to occur on the left side of the maxilla. Both types of anomalies could be featured in a small proportion of cleft patients. CONCLUSIONS: More than half of the patients with non-syndromic cleft lip and palate in this study, presented with tooth-number anomalies. Tooth agenesis was approximately 10-time more prevalent than supernumerary teeth. Tooth agenesis was likely to appear on the left-side of the maxilla regardless of the laterality of the cleft.
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Anodontia , Cleft Lip , Cleft Palate , Cone-Beam Computed Tomography , Tooth, Supernumerary , Humans , Cleft Lip/epidemiology , Cleft Palate/epidemiology , Tooth, Supernumerary/epidemiology , Tooth, Supernumerary/diagnostic imaging , Thailand/epidemiology , Prevalence , Male , Female , Anodontia/epidemiology , Anodontia/diagnostic imaging , Adolescent , Child , Radiography, Panoramic , Young Adult , Southeast Asian PeopleABSTRACT
INTRODUCTION: Cleft lip and palate (CLP) is a common congenital anomaly characterized by incomplete fusion of the lip and/or palate during embryonic development. The etiology of CLP is multifactorial, involving genetics and different environmental factors. The methylenetetrahydrofolate reductase (MTHFR) gene has been proposed as a candidate gene associated with CLP due to its involvement in folate metabolism and DNA methylation processes. However, the association between MTHFR gene variants and CLP in non-syndromic patients in the North Indian population remains unclear. AIM AND OBJECTIVES: This research aimed to see the association between MTHFR gene polymorphisms in non-syndromic patients with CLP in the North Indian population. MATERIALS AND METHOD: A case-control observational design comprised 50 CLP patients (cases) and 50 healthy individuals without CLP (controls). Blood samples were collected from patients visiting two hospitals. Genomic DNA was extracted from collected peripheral blood samples, and the genotyping of MTHFR gene polymorphisms (specifically, C677T) was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. The allelic and genotypic frequencies of MTHFR gene variants were compared between cases and controls using appropriate statistical tests. RESULT: This research revealed a significant association between MTHFR gene polymorphism and CLP in the North Indian population. The odds for the genotypes reach statistical significance, suggesting that the MTHFR gene variant may play a major role in this population's susceptibility to non-syndromic CLP. CONCLUSION: This study provides evidence for a linkage between the MTHFR gene C677T polymorphism and an increased risk of CLP in non-syndromic patients in the North Indian population. These findings do support the involvement of MTHFR gene variants in the etiology of CLP. In the future, more research is warranted to elucidate the underlying mechanisms linking MTHFR gene variants to CLP and to explore potential gene-environment interactions in this context.
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OBJECTIVE: To assess the effectiveness of an interactive iPad-based educational module (cleft iBook) in enhancing parent/caregiver education related to cleft lip and/or cleft palate (CL/P) care. DESIGN: A prospective study involving pre- and post-intervention surveys. SETTING: The study was conducted at a craniofacial clinic in a dedicated children's hospital specifically during initial consultations for CL/P care. PARTICIPANTS: Thirty-two participants (parents/legal guardians/caregivers) ≥18 years of age, English and/or Spanish-speaking, and attending with a child with CL/P. INTERVENTIONS: Participants were provided with iPads and engaged with the interactive iPad-based educational module. Pre- and post-intervention surveys were administered. MAIN OUTCOME MEASURE(S): The survey assessed the understanding of a CL/P diagnosis and management and usability of the iBook. Survey responses were graded on a 5-point Likert scale. Total scores for pre- and post-intervention surveys were compared. RESULTS: Utilizing the cleft iBook module before consultation significantly enhanced comprehension in multiple domains: prenatal development of CL/P, dento-facial molding, surgical techniques, steps after the initial consultation, postoperative care, and the necessity of long-term care for affected children (P < .01). Cumulative survey scores increased by 10.2 points, reflecting significantly improved responses regarding overall comprehension (P < .001). CONCLUSIONS: The interactive, iPad-based cleft educational module emerges as a viable, digital strategy for providing education and empowerment to parents and caregivers navigating the challenges of caring for a child with CL/P. The cleft iBook serves as a readily accessible resource, fostering connections among the child, caregivers, and care team.
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OBJECTIVE: To develop consensus-based algorithms for genetic testing in patients with common craniofacial conditions. DESIGN: An online collaborative consisting of online meetings, independent work, and feedback across groups. Setting/Participants: A collaborative of genetics and pediatrics providers from three regional craniofacial centers (four institutions). METHODS: Collaborative participants agreed upon a shared initial framework, developed algorithms independently, and presented/tested the algorithms with a national audience. Algorithms were modified based on consensus feedback. RESULTS: The collaborative group developed final algorithms for genetic testing in patients with orofacial cleft, branchial arch conditions, and craniosynostosis. CONCLUSIONS: Timely and accurate diagnosis of genetic conditions can support medical management recommendations that result in safer surgical interventions. Algorithms can help guide best-practices for testing, particularly in institutions without easy access to genetics providers.
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BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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. KEY POINTS: 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.
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Objectives: This study investigated the associations of PVRL1 gene variants with nonsyndromic cleft lip with or without cleft palate (NSCL/P) by evaluating transmission distortion and parent-of-origin (POO) effects in multiple ethnic populations. Methods: We conducted allelic and genotypic transmission disequilibrium tests (TDT) on 10 single-nucleotide variants (SNVs) in PVRL1 using data from 142 Korean families with an affected child. POO effects were analyzed using the POO likelihood ratio test, comparing transmission rates of maternally and paternally inherited alleles. To assess generalizability and ethnic heterogeneity, we compared results from Korean families with data from the Center for Craniofacial and Dental Genetics, which included 2,226 individuals from 497 European and 245 Asian trios. Results: TDT analysis identified significant over-transmission of the rs7940667 (G361V) C allele in Korean families (p=0.007), a finding replicated in both Asian (p=6.5×10-7) and European families (p=1.6×10-10). Eight SNVs showed strong TDT evidence in larger Asian and European datasets after multiple comparison corrections (p<0.007). Of these, 4 SNVs (rs7940667, rs7103685, rs7129848, and rs4409845) showed particularly robust association (p<5×10-8). POO analysis revealed significant maternal over-transmission of the rs10790330-A allele in Korean families (p=0.044). This finding was replicated in European families (p=9.0×10-4). Additionally, 3 other SNVs, rs7129848 (p=0.001) and the linked SNVs rs3935406 and rs10892434 (p=0.025), exhibited maternal over-transmission in the validation datasets. Conclusion: Our findings provide robust evidence supporting the associations of PVRL1 variants with NSCL/P susceptibility. Further research is necessary to explore the potential clinical applications of these findings.
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OBJECTIVE: Development of an AI tool to assess velopharyngeal competence (VPC) in children with cleft palate, with/without cleft lip. DESIGN: Innovation of an AI tool using retrospective audio recordings and assessments of VPC. SETTING: Two datasets were used. The first, named the SR dataset, included data from follow-up visits to Skåne University Hospital, Sweden. The second, named the SC + IC dataset, was a combined dataset (SC + IC dataset) with data from the Scandcleft randomized trials across five countries and an intercenter study performed at six Swedish CL/P centers. PARTICIPANTS: SR dataset included 153 recordings from 162 children, and SC + IC dataset included 308 recordings from 399 children. All recordings were from ages 5 or 10, with corresponding VPC assessments. INTERVENTIONS: Development of two networks, a convolutional neural network (CNN) and a pre-trained CNN (VGGish). After initial testing using the SR dataset, the networks were re-tested using the SC + IC dataset and modified to improve performance. MAIN OUTCOME MEASURES: Accuracy of the networks' VPC scores, with speech and language pathologists scores seen as the true values. A three-point scale was used for VPC assessments. RESULTS: VGGish outperformed CNN, achieving 57.1% accuracy compared to 39.8%. Minor adjustments in data pre-processing and network characteristics improved accuracies. CONCLUSIONS: Network accuracies were too low for the networks to be useful alternatives for VPC assessment in clinical practice. Suggestions for future research with regards to study design and dataset optimization were discussed.
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Alveolar bone grafting (ABG) in bilateral cleft lip and palate (BCLP) patients provides a reconstructive challenge. We present a novel technique of combining autologous iliac crest bone graft (ICBG) with recombinant human bone morphogenic protein 2 (rhBMP-2) and cellular bone matrix (CBM) for ABG in BCLP patients. Complete bone fill occurred in 90% of patients, with 100% having bilateral canine eruption. No patients required repeat ABG, and no significant complications were reported. The alveolar cleft gap volume significantly decreased with an improvement of 75.87%. ABG with autologous ICBG with rhBMP-2 and CBM is an effective technique for patients with BCLP.
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OBJECTIVE: This study aims to reduce the waste generated from primary cleft lip and/or palate (CL/P) repair. DESIGN: A retrospective chart review examined a single surgeon's experience with CL/P repair using standard draping technique and reduced draping technique. Fisher's exact tests were performed comparing complication rates between techniques. SETTING: All procedures were conducted at a single academic medical center under the care of a board-certified pediatric plastic surgeon and fellowship-trained pediatric anesthesiologists. PATIENTS: The study included all patients ≤ 24 months of age who underwent primary CL/P repair using a reduced draping technique at the senior author's institution. An equivalent number of patients who underwent CL/P repair by the senior author immediately prior to implementation of the reduced draping technique were included for comparison. INTERVENTION: Patients undergoing CL/P repair before the change in technique were draped using the standard CL/P draping. The senior author then switched to using a reduced draping on all CL/P repairs afterwards. MAIN OUTCOME MEASURES: Weights and costs of both draping sets were obtained and differences calculated. A manual chart review was performed to assess rates of accidental intraoperative extubation, postoperative infection, fistula formation, and wound dehiscence. RESULTS: The implementation of a reduced draping technique resulted in a 530 gram weight savings and $7.49 cost savings per procedure. Fisher's exact tests revealed no statistically significant differences in complication rates except for oral mucosal dehiscence, which was lower in the reduced draping group. CONCLUSIONS: Reduced draping in CL/P repairs significantly reduces operative waste without compromising surgical outcomes.
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OBJECTIVE: Development and evaluation of a mobile application for remote monitoring and guidance of pediatric patients diagnosed with cleft lip and/or palate (CL ± P) and their caregivers. DESIGN: This is a pilot cross-sectional, applied, and quantitative study. SETTING: The study was conducted in two tertiary care treatment centers in Brazil. PARTICIPANTS: The participants included 20 caregivers and infants undergoing treatment with nasoalveolar molding (NAM) for CL ± P. INTERVENTIONS: The intervention involved using the TeleCleft mobile application for remote monitoring and guidance of caregivers and infants during NAM treatment. MAIN OUTCOME MEASURE(S): The main outcome measures included usability and satisfaction of users with the TeleCleft application. RESULTS: The results showed high usability and satisfaction ratings among users of the TeleCleft application. Most participants found remote monitoring to be effective and expressed positive opinions about its convenience and usefulness. CONCLUSION: TeleCleft could be a viable tool for remote monitoring and guidance, reducing the need for patients and caregivers to travel to treatment centers, which could potentially alleviate the burden of care faced by families during the journey of CL ± P treatment.
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AIM: Speech difficulties are common in children with cleft palate, but research on foreign-born children is limited. This study aimed to compare speech outcomes, surgery and speech intervention in 5-year-old foreign-born and Swedish-born children with cleft palate with or without cleft lip. METHODS: This retrospective study analysed data from the Swedish cleft lip and palate registry for children born between 2009 and 2016 using Pearson's Chi-squared test and binary logistic regression. RESULTS: Among 160 foreign-born (106 boys, 54 girls) and 847 Swedish-born (479 boys, 368 girls) 5-year-olds, foreign-born children had significantly lower rates of sufficient velopharyngeal competence (77% vs. 86%), age-appropriate consonant production (28% vs. 60%), and speech without non-oral speech errors (70% vs. 86%). Differences remained after adjustment for cleft type, gender and additional diagnosed conditions. After further adjustments for age at completed primary palatal surgery, differences in age-appropriate consonant production and speech without non-oral speech errors remained significant. Foreign-born children underwent completed primary palatal surgery at older ages and received more secondary palatal surgery and speech intervention than Swedish-born peers. CONCLUSION: Foreign-born children showed poorer speech outcomes than Swedish-born peers, despite more secondary palatal surgery and speech intervention. Age at completed primary palatal surgery could partly explain these differences.
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INTRODUCTION: The application of artificial intelligence (AI) in healthcare has expanded in recent years, and these tools such as ChatGPT to generate patient-facing information have garnered particular interest. Online cleft lip and palate (CL/P) surgical information supplied by academic/professional (A/P) sources was therefore evaluated against ChatGPT regarding accuracy, comprehensiveness, and clarity. METHODS: 11 plastic and reconstructive surgeons and 29 non-medical individuals blindly compared responses written by ChatGPT or A/P sources to 30 frequently asked CL/P surgery questions. Surgeons indicated preference, determined accuracy, and scored comprehensiveness and clarity. Non-medical individuals indicated preference. Calculations of readability scores were determined using seven readability formulas. Statistical analysis of CL/P surgical online information was performed using paired t-tests. RESULTS: Surgeons, 60.88% of the time, blindly preferred material generated by ChatGPT over A/P sources. Additionally, surgeons consistently indicated that ChatGPT-generated material was more comprehensive and had greater clarity. No significant difference was found between ChatGPT and resources provided by professional organizations in terms of accuracy. Among individuals with no medical background, ChatGPT-generated materials were preferred 60.46% of the time. For materials from both ChatGPT and A/P sources, readability scores surpassed advised levels for patient proficiency across seven readability formulas. CONCLUSION: As the prominence of ChatGPT-based language tools rises in the healthcare space, potential applications of the tools should be assessed by experts against existing high-quality sources. Our results indicate that ChatGPT is capable of producing high-quality material in terms of accuracy, comprehensiveness, and clarity preferred by both plastic surgeons and individuals with no medical background.
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BACKGROUND: Clefts of the lip and palate (CL/P) and cleft palate (CP) are the most common craniofacial congenital anomalies. Clefts are classified as syndromic and nonsyndromic. Nonsyndromic clefts have no known genetic causes. OBJECTIVES: This study combines prospective and retrospective studies to review the patterns of CL/P and CP and associated syndromes and conditions in patients registered for CL/P surgery at a tertiary care pediatric center in our tertiary care hospital in Saudi Arabia. METHODS: It included patient data from May 2015 through April 2023. Patient record forms and SPSS (IBM version 20.0) were used to collect and analyze data. A significance level of 5% was used, with p ≤ 0.05 considered statistically significant. RESULTS: Of the 319 patients who met our inclusion criteria, 175 were male. Of the total, 99 had a left unilateral isolated cleft lip, 61 had a right unilateral isolated cleft lip, 69 had a bilateral cleft lip, and 90 had an isolated CP. Of the total, 140 had CL/P. Around 242 were nonsyndromic. The Chi-square test revealed a significant association between the prevalence of isolated CP and CLP and gender. The prevalence of left unilateral isolated cleft lip and bilateral and isolated CP was significantly associated with syndromic and nonsyndromic cases. CONCLUSION: Males are more likely to be affected by orofacial clefts, which is consistent with the global trend. Isolated CP was the most common orofacial cleft. Within the sample, syndromes' association with orofacial clefts was significantly weaker than that of isolated and bilateral clefts.
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When performing a unilateral incomplete cleft lip repair, it is essential to create a good sub-structure of the upper lip contour, reconstruct the orbicularis oris muscle, and prevent an unwanted scar. The aim of this study was to investigate the clinical effect of muscle reconstruction using a five-flap method with a short straight-line incision in unilateral incomplete cleft lip repair. Thirty-two infants with unilateral incomplete cleft lip were treated with this method between April 2020 and February 2023. A short straight-line incision was designed along the philtral column. The orbicularis oris muscle was reconstructed with a five-flap method in three areas: nasal base area, white lip area, and red lip area. Patient outcomes were assessed through subjective evaluation and anthropometric measurements. No patient experienced any postoperative complications. The philtral column and Cupid's bow were well reconstructed. Deviation of nasal columella was corrected and the nasal floor was elevated. Functionally and aesthetically satisfactory outcomes were obtained in all patients over long-term follow-up. In conclusion, this technique was able to create a good sub-structure of the nasolabial contour and bring a significant improvement in bilateral symmetry, showing it to be an effective method for incomplete unilateral cleft lip repair with minimal scarring.
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OBJECTIVE: Aim: To study the condition of oral tissues in children with congenital complete cleft lip, alveolar process, hard and soft palate. PATIENTS AND METHODS: Materials and Methods: From the examined 470 children National Specialized Children's Hospital "OKHMATDYT" (Kyiv, Ukraine) with congenital cleft lip and palate was analyzed: 302 patients aged 8-18 years were subject to in-depth analysis for clinical and radiological - 192 with unilateral and 110 with bilateral complete cleft lip, alveolar process, hard and soft palate. RESULTS: Results: The average value of primary adention in patients with unilateral and bilateral complete combined cleft is 69.53%, but in females this indicator is higher and in unilateral cleft 92.18% for female against 53.17% for male. In females with unilateral cleft retention - 40.62% and overcomplete - 10,93%. The same high indicators in bilateral cleft: retention - 36.58% and overcomplete - 12.19%. Retention and overcomplete have higher values for men - 44.93% and 23.19%, respectively. Chewing efficiency in females with bilateral cleft as a result of primary dentition is below 80%. Affected by caries - 90.73% in both groups. Inflammatory processes in the periodontal tissues are revealed (80,75%): chronic catarrhal gingivitis, chronic hypertrophic gingivitis, chronic generalized periodontitis. Manifestations of atopic and angular cheilitis in 39.09% and 23.63% with bilateral cleft lip and palate, glossitis in 29.09%. CONCLUSION: Conclusions: Patients with congenital complete cleft lip, alveolar process, hard and soft palate have high rates of adentia, retention, overcomplete dentition and a wide range of diseases of the oral cavity, which negatively affects surgical and orthodontic rehabilitation.
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Cleft Lip , Cleft Palate , Humans , Female , Male , Child , Adolescent , Ukraine/epidemiologyABSTRACT
OBJECTIVE: To compare the weight, height, BMI and nutritional status of patients with and without cleft lip and/or cleft palate (CLP). DESIGN: Cross-sectional study. SETTING: Lagos University Teaching Hospital. PATIENTS, PARTICIPANTS: Patients with CLP and a control group of participants without CLP aged between 1 month and 6 years. All patients in the CLP group had not received surgical or nutritional intervention. OUTCOME MEASURES: Weight, height, BMI, their respective percentiles, and nutritional status according to the WHO 2006 growth curves of participants. RESULTS: Patients with CLP (n = 60, 21 males, 39 females, mean age: 19.1 months) had significantly lower percentile weight and height compared to those of controls (n = 60, 26 females, mean age, 23.6 months) in univariate analyses (all p < 0.01). Multivariate linear regression revealed significant interactions with age group for weight. In addition, proportions of underweight and short stature were significantly higher in the CLP group compared to the control group (all p < 0.05), and these significant differences were dependent on the age group with between-group significant differences only in age groups less than 25 months. CONCLUSIONS: Overall, patients with CLP had significantly lower weight, height, BMI and nutritional status than their unaffected peers, and these differences were dependent on age group. Significantly lower nutritional status was seen in patients with CLP up to 24 months of age, which highlights the need for early nutritional intervention in the management of CLP.
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BACKGROUND: Ectodermal dysplasias (EDs) are a heterogeneous group of genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. There are currently 49 recognized EDs with molecularly confirmed etiology. The EDs are very rare disorders, individually and in aggregate. Very little is published regarding the prevalence of these rare disorders. As a result of the genomics revolution, rare diseases have emerged as a global health priority. The various disabilities arising from rare disorders, as well as diagnostic and treatment uncertainty, have been demonstrated to have detrimental effects on the health, psychosocial, and economic aspects of families affected by rare disorders. Contemporary research methodologies and databases can address what have been historic challenges encountered when conducting research on rare diseases. OBJECTIVE: In this study, we aim to ascertain period prevalence rates for several of the more common ectodermal dysplasia syndromes, by querying a large multicenter database of electronic health records, Oracle Real-World Data. METHODS: For each of the included ectodermal dysplasia syndromes a clinical definition was developed by a committee of international experts with interests in EDs. The clinical definitions were based upon a combination of clinical features and designated by ICD-9 and ICD-10 codes. The January 2023 version of the Oracle Real-World Data database was queried for medical records that coincided with the clinical definitions. For our study, there were 64,523,460 individual medical records queried. RESULTS: Period prevalence rates were calculated for the following ED disorders: hypohidrotic ectodermal dysplasia, found to be 2.99 per 100,000; ectodermal dysplasia and immunodeficiency 1, 0.23 per 100,000; Clouston syndrome, 0.15 per 100,000; ectrodactyly ectodermal dysplasia and cleft lip/palate syndrome, 0.61 per 100,000; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, 0.36 per 100,000; focal dermal hypoplasia, 0.10 per 100,000; and incontinentia pigmenti, 0.88 per 100,000. CONCLUSION: This study established estimated period prevalence rates for several of the ectodermal dysplasia syndromes, and it demonstrated the feasibility of utilizing large multicenter databases of electronic health records, such as Oracle Real World Data.
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Currently, the role of cleft-lip and palate transmembrane protein-1-like (CLPTM1L) rs401681 in various tumor types, particularly lung cancer, has garnered significant attention. However, the findings across studies have shown discrepancies. The aim of the present meta-analysis was to provide a more nuanced understanding of the involvement of CLPTM1L rs401681 in lung cancer development. Several electronic databases were systematically searched, including PubMed, Cochrane Library, Embase, Medline, Wanfang, Google Scholar and Chinese National Knowledge Infrastructure. Odds ratios (ORs) and 95% confidence intervals (CIs) were synthesized using random-effects models. Heterogeneity of included studies was assessed using the I2 statistic and Q test. Sensitivity analysis was conducted to evaluate the stability of overall estimates. Moreover, Egger's test was utilized to detect potential publication bias. The collective ORs indicated a significant association between the CLPTM1L rs401681 polymorphism and susceptibility to lung cancer across various genetic comparisons. These encompass allele T vs. allele C (OR=0.93, 95% CI=0.88-0.99, P<0.001), TT + CT vs. CC (OR=0.91, 95% CI=0.87-0.96, P<0.001), TT vs. CC + CT (OR=0.88, 95% CI=0.80-0.96, P<0.001), TT vs. CC (OR=0.84, 95% CI=0.75-0.94, P<0.001) and CT vs. CC (OR=0.84, 95% CI=0.75-0.94, P<0.001). Examination through statistical Q test and I2 statistic revealed pronounced heterogeneity across four genetic comparisons (allele T vs. allele C, TT + CT vs. CC, TT vs. CC and CT vs. CC). Ethnical distinctions emerged as the primary, if not exclusive, sources of the significant heterogeneity. Upon stratification by ethnicity, a notable reduction in heterogeneity was discernible within the Caucasian demographic. However, heterogeneity persisted within the Asian population. Furthermore, lung cancer risks were statistically significantly decreased for individuals possessing allele T through all genetic comparisons within Caucasians; whereas among Asians, significant reduction was observed solely in the TT vs. CC comparison. The present meta-analysis uncovers a significant association between the CLPTM1L rs401681 polymorphism and altered susceptibility to lung cancer.
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Conventional gingivoperiosteoplasty (GPP) performed during infancy adversely affects maxillary development. However, the outcomes of this procedure in early childhood have rarely been reported. Therefore, we examined the postoperative outcomes of GPP conducted in patients aged 1.5 years with unilateral cleft lip and palate (UCLP). This study included 87 non-syndromic patients with complete UCLP who had undergone early two-stage palatoplasty during the 1999-2004 period. The protocol comprised soft palate plasty at 1 year of age and hard palate closure at 1.5 years of age. In the GPP group (n = 34), we introduced the GPP procedure during hard palate closure; in the non-GPP group (n = 53), the labial side of the alveolar cleft remained intact. We examined computed tomography images taken at 8 years of age to observe bone formation at the alveolar cleft site. We also conducted cephalometric analysis to examine maxillary development at 12 years of age. Bone bridges at the alveolar cleft site were observed in 92% and 5.6% of the GPP and non-GPP groups, respectively. Moreover, 56% of the GPP group did not require secondary alveolar bone grafting (sABG), whereas all the patients in the non-GPP group underwent sABG. No statistically significant differences were noted in the maxillary anteroposterior length (GPP: 45.5 ± 3.7 mm, non-GPP: 45.9 ± 3.5 mm, p = 0.67) and sella-nasion-point A angle (GPP: 75.6 ± 4.5°, non-GPP: 73.8 ± 12.6°, p = 0.49). This study's findings suggest that GPP performed at 1.5 years of age minimises the necessity of sABG and does not exert a negative influence on maxillofacial development.
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BACKGROUD: A systematic analysis was conducted to investigate the molecular etiology of fetal cleft lip and/or palate (CL/P) and the association between various types of CL/P and copy number variations (CNVs), as well as their impact on birth outcomes. METHODS: In this retrospective study conducted between January 2016 and July 2022, a cohort of pregnancies diagnosed with fetal CL/P was enrolled and comprehensive clinical data for all cases were extracted from our medical record database, including demographic data about the pregnancies, ultrasound findings, results of Chromosomal microarray (CMA), as well as relevant pregnant and perinatal outcomes. RESULTS: Among the 358 cases, 32 clinically significant variants in 29 (8.1%) fetuses with CL/P were detected by CMA. In 338 singleton pregnancies, the diagnostic yield of CMA in the context of CL/P fetuses was determined to be 7.7% (26/338). CP cases exhibited a relatively higher prevalence of pathogenic/likely pathogenic CNVs at a rate of 25% (3/12), followed by CLP cases at 8.0% (23/288). Notably, the CL group did not demonstrate any pathogenic/likely pathogenic CNV findings among the examined cases (0/38). The diagnostic rate of clinically significant variants was notably higher in the non-isolated CL/P group than in the isolated CL/P group (11/33, 33.3% vs. 15/305, 4.9%, p < 0.001). Within the remaining 20 twin pregnancies, three clinically significant variants (15%) were observed. CONCLUSIONS: This study provides powerful evidence supporting the efficacy of CMA as a valuable tool for facilitating the prenatal genetic diagnosis of fetal CL/P. The presence of CP and CLP in fetal cases demonstrated a relatively higher incidence of pathogenic/likely pathogenic CNVs. Moreover, when these cases were accompanied by additional ultrasound abnormalities, the likelihood of identifying diagnostic CNVs significantly increased. Conversely, cases of CL alone might not be associated with positive CNVs. The present data may significantly enhance prenatal diagnosis accuracy and facilitate informed genetic counseling for cases of fetal CL/P.