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1.
Birth Defects Res ; 116(8): e2387, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39095883

ABSTRACT

BACKGROUND: Orofacial clefts (OFCs) are among the most common birth defects (BD). In 2008, a series of improvements began in the Costa Rican Birth Defect Register Center (CREC). We aim to explore trends between 1996 and 2021. METHODS: A trend analysis of OFCs from 1996 to 2021 and a descriptive analysis of OFCs from 2010 to 2021 were performed based on data from the CREC, the national BD surveillance system. Prevalence at birth was calculated according to the type: cleft palate (CP), cleft lip with or without CP (CL ± P), and presentation (isolated, multiple non-syndromic, or syndromes). We used joinpoint regression to identify if a significant change in trend occurred; the average annual percent change (AAPC) was determined. Marginal means and prevalence ratios by subperiod (1996-2009 as referent and 2010-2021) were estimated using Poisson regression and compared using Wald's chi-square tests (α ≤.05). RESULTS: We found a significant AAPC for OFCs prevalence of +1.4: +0.6 for isolated, +2.9 for multiple non-syndromic, and +7.7 for syndromes (p < .05). When comparing the OFC's prevalence of the subperiod 2010-2021 (11.86 per 10,000) with 1996-2009 (9.36 per 10,000) the prevalence ratio was 1.3 (p < .01): 1.1 (p < .05) for isolated, 1.6 (p < .01) for multiple non-syndromic, and 3.3 (p < .01) for syndromes. The prevalence of OFCs from 2010 to 2021 was 9.1 for CL ± P and 2.8 for CP. Seventy-one percent of the OFCs were isolated, 22% multiple non-syndromic, and 7% syndromes. CONCLUSION: The trend in OFCs' prevalence is toward increasing, mainly due to improvements in the surveillance system.


Subject(s)
Cleft Lip , Cleft Palate , Costa Rica/epidemiology , Humans , Cleft Lip/epidemiology , Cleft Palate/epidemiology , Prevalence , Female , Male , Registries , Infant, Newborn , Population Surveillance/methods
2.
Head Face Med ; 20(1): 40, 2024 Aug 01.
Article in English | MEDLINE | ID: mdl-39090693

ABSTRACT

BACKGROUND: Since many different conclusions of craniofacial anomalies and their relation to the posterior airway space coexist, this comparative clinical study investigated the palatal morphology concerning volumetric size, posterior airway space dimension and the adenoids of patients with and without a cleft before orthodontic treatment. METHODS: Three-dimensional intraoral scans and cephalometric radiographs of n = 38 patients were used for data acquisition. The patients were divided into three groups: unilateral cleft lip and palate (n = 15, 4 female, 11 male; mean age 8.57 ± 1.79 years), bilateral cleft lip and palate (n = 8, 0 female, 8 male; mean age 8.46 ± 1.37 years) and non-cleft control (n = 15, 7 female, 8 male; mean age 9.03 ± 1.02 years). The evaluation included established procedures for measurements of the palatal morphology and posterior airway space. Statistics included Shapiro-Wilk-Test and simple ANOVA (Bonferroni) for the three-dimensional intraoral scans and cephalometric radiographs. The level of significance was set at p < 0.05. RESULTS: The palatal volume and cephalometric analysis showed differences between the three groups. The palatal volume, the superior posterior face height and the depth of the bony nasopharynx of patients with cleft lip and palate were significantly smaller than for non-cleft control patients. The superior posterior face height of bilateral cleft lip and palate patients was significantly smaller than in unilateral cleft lip and palate patients (BCLP: 35.50 ± 2.08 mm; UCLP: 36.04 ± 2.95 mm; p < 0.001). The percentage of the adenoids in relation to the entire nasopharynx and the angle NL/SN were significantly bigger in patients with cleft lip and palate than in the non-cleft control. In particular, the palatal volume was 32.43% smaller in patients with unilateral cleft lip and palate and 48.69% smaller in patients with bilateral cleft lip and palate compared to the non-cleft control. CONCLUSIONS: Skeletal anomalies relate to the dimension of the posterior airway space. There were differences among the subjects with cleft lip and palate and these without a cleft. This study showed that the morphology of the palate and especially transverse deficiency of the maxilla resulting in smaller palatal volume relates to the posterior airway space. Even the adenoids seem to be affected, especially for cleft lip and palate patients.


Subject(s)
Cephalometry , Cleft Lip , Cleft Palate , Imaging, Three-Dimensional , Humans , Cleft Palate/diagnostic imaging , Cleft Palate/pathology , Female , Male , Cleft Lip/diagnostic imaging , Cleft Lip/pathology , Child , Cephalometry/methods , Orthodontics, Corrective/methods , Palate/diagnostic imaging , Palate/pathology , Retrospective Studies
3.
Hua Xi Kou Qiang Yi Xue Za Zhi ; 42(3): 313-318, 2024 Jun 01.
Article in English, Chinese | MEDLINE | ID: mdl-39049650

ABSTRACT

OBJECTIVES: This work aimed to study the correlation between FOXN3-SIN3A complex expression and non-syndromic oral clefts (NSOC) in Xinjiang. METHODS: In this study, 60 patients with NSOC attending the People's Hospital of Xinjiang Uygur Autonomous Region were recruited into the case group, including 30 cleft lip with or without cleft palate (NSCL/P), 30 cleft palate only (CPO), and 30 healthy children in the control group. The expression levels of FOXN3, SIN3A, and NEAT1 in peripheral blood of each group were detected by high-throughput second-generation sequencing technology and quantitative reverse transcription polymerase chain reaction (RT-qPCR). Receiver operating characteristic (ROC) curve and area under the curve (AUC) were used to analyze the diagnostic efficiency of NSOC. RESULTS: The comparison of the NSOC and control groups showed that FOXN3, SIN3A, and NEAT1 genes increased compared with the control group. The differences were all statistically significant (P<0.05). The AUCs of FOXN3, SIN3A, and NEAT1 in the NSCL/P group were 0.933 [95%CI=(0.864, 1.000)], 0.822 [(95%CI=(0.713, 0.932)], and 1.000[95%CI= (1.000, 1.000)], respectively. The AUCs of FOX-N3, SIN3A, and NEAT1 in the CPO group were 0.891 [95%CI=(0.806, 0.976)], 0.688 [95%CI=(0.552, 0.824)], and 1.000 [95%CI=(1.000, 1.000)], respectively. CONCLUSIONS: The results showed a correlation between the rising gene expression of FOXN3, SIN3A, and NEAT1 in peripheral blood and the occurrence of NSOC in Xinjiang. This work provides a theoretical basis for further study of the FOXN3-SIN3A complex as biomarkers to facilitate the early screening, disease prediction, and early prevention of NSOC.


Subject(s)
Cleft Lip , Cleft Palate , Forkhead Transcription Factors , Sin3 Histone Deacetylase and Corepressor Complex , Humans , Cleft Lip/genetics , Cleft Palate/genetics , Forkhead Transcription Factors/genetics , China/epidemiology , Repressor Proteins , ROC Curve , Cell Cycle Proteins
4.
Clin Exp Dent Res ; 10(4): e914, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38973214

ABSTRACT

OBJECTIVES: Oronasal fistulas are common sequelae following cleft lip and palate surgery and can significantly impact a patient's quality of life. They result from various factors, including surgical techniques, tissue management, and patient-specific factors. This case report explores the modern approach to oronasal fistula closure using periodontal plastic surgery principles. MATERIALS AND METHODS: The report presents two cases of patients with oronasal fistulas due to previous maxillofacial surgical intervention. These patients underwent microsurgical procedures that involved partial flap thickness preparation of the fistula areas, the use of connective tissue grafts from the palate, and meticulous suturing techniques to ensure graft integrity. The procedures were performed in stages, and postoperative care was provided. RESULTS: Both cases demonstrated successful fistula closure and graft survival. The patients reported improvements in breathing, speech, aesthetics, and quality of life. The second case also included guided bone regeneration and implant placement. CONCLUSIONS: Oronasal fistulas resulting from maxillofacial surgery can be effectively treated using periodontal plastic surgery techniques, significantly improving patients' quality of life and aesthetic outcomes. This approach represents a valuable addition to the existing repertoire of oronasal fistula closure methods.


Subject(s)
Cleft Palate , Oral Fistula , Plastic Surgery Procedures , Humans , Oral Fistula/surgery , Oral Fistula/etiology , Plastic Surgery Procedures/methods , Cleft Palate/surgery , Female , Male , Nose Diseases/surgery , Surgical Flaps/transplantation , Cleft Lip/surgery , Quality of Life , Adult , Treatment Outcome
5.
Clin Oral Investig ; 28(8): 422, 2024 Jul 11.
Article in English | MEDLINE | ID: mdl-38990357

ABSTRACT

BACKGROUND: The double-opposing Z-plasty is a fundamental approach for cleft palate repair. Recently, some surgeons have begun implementing a single Z-Plasty, igniting discussions on the most effective technique for enhancing postoperative outcomes. Consequently, this study sought to evaluate the outcomes of employing single and double Z-plasties within the modified Sommerlad-Furlow technique. METHODS: 116 cleft palate patients undergoing primary surgical repair were divided into two groups: those treated with the Sommerlad-Furlow method using a double-opposing Z-plasty (S.F.2.Z.P. group, n = 58) and those receiving a single nasal Z-plasty (S.F.1.Z.P. group, n = 58). Data on cleft type and width, soft palate length, palatal fistula, and velopharyngeal function were collected. Mann-Whitney test compared the mean values between groups. RESULTS: The S.F.2ZP group demonstrated a statistically significant increase in soft palate length compared to those in the S.F.1ZP group (p = 0.008). However, the S.F.1ZP group demonstrated adequate soft palate length (7.9 ± 2.8 mm) compared to the S.F.2ZP group (9.3 ± 2.8 mm). The velopharyngeal function was good in both groups, with no significant differences (P = 0.52). While the proper velopharyngeal closure was 81% in the S.F.1ZP group and 87.9% in the S.F.2ZP group, velopharyngeal insufficiency was 10.3% and 5.2%, respectively. The rates of persistent palatal fistula were 5.2% in the S.F.1ZP group and 3.4% in the S.F.2ZP group, with no significant differences found between both groups (P = 0.64). CONCLUSIONS: There were no significant differences in crucial outcomes such as velopharyngeal function and the incidence of persistent palatal fistulas, indicating the effectiveness of both techniques. While the double-opposing Z-plasty demonstrated a statistically significant increase in soft palate length, the a nasal Z-plasty demonstrated adequate soft palate length which sufficiently enables effective velopharyngeal closure. These outcomes suggest that a single Z-plasty is both effective and easy to perform, making it a valuable surgical approach for achieving the desired outcomes.. CLINICAL RELEVANCE: The current study suggests that although the soft palate may not be as elongated with nasal Z-plasty alone compared to the double Z-plasty, it sufficiently enables effective velopharyngeal closure.


Subject(s)
Cleft Palate , Plastic Surgery Procedures , Humans , Cleft Palate/surgery , Female , Male , Treatment Outcome , Plastic Surgery Procedures/methods , Infant , Palate, Soft/surgery , Child, Preschool , Postoperative Complications , Velopharyngeal Insufficiency/surgery , Retrospective Studies
6.
J Med Case Rep ; 18(1): 342, 2024 Jul 16.
Article in English | MEDLINE | ID: mdl-39010154

ABSTRACT

BACKGROUND: Surgery for pediatric cleft lip and palate repair often utilizes high-dose opioids and inhaled anesthesia, thereby causing postoperative complications such as desaturation and/or severe agitation after anesthesia. These complications are detrimental to the child and medical personnel and cause tremendous psychologic stress to parents. Our aim is to decrease these complications through dexmedetomidine, an alpha-2 receptor agonist with anxiolytic, sympatholytic, and analgetic properties. Devoid of respiratory depressant effect, it allows patients to maintain effective ventilation and reduce agitation, postoperatively. Its unique anesthetic property may shed light on providing safe anesthesia and gentle emergence to this young, vulnerable population. CASE PRESENTATION: A total of 21 patients of Sundanese ethnicity, aged 3 months to 8 years (9 males and 12 females), underwent cleft lip or cleft palate surgery using total intravenous dexmedetomidine. Anesthesia was induced using sevoflurane, fentanyl, and propofol, and airway was secured. Intravenous dexmedetomidine 1.5 µg/kg was administered within 10 minutes, and a maintenance dose of 1.5 µg/kg/hour was continued as the sole anesthetic maintenance agent thereafter. Hemodynamics and anesthetic depth using Patient State Index (SEDLine™ monitor, Masimo Corporation, Irvine, CA, USA) were monitored carefully throughout the surgical procedure. Dexmedetomidine did not cause any hemodynamic derangements or postoperative complications in any of our patients. We found agitation in 9.5% (2/21) of patients. CONCLUSION: Dexmedetomidine can be used as a total intravenous anesthetic agent to maintain anesthesia and provide gentle emergence to infants and young children undergoing cleft lip and palate repair.


Subject(s)
Anesthetics, Intravenous , Cleft Lip , Cleft Palate , Dexmedetomidine , Humans , Dexmedetomidine/administration & dosage , Dexmedetomidine/therapeutic use , Cleft Lip/surgery , Cleft Palate/surgery , Male , Female , Child, Preschool , Infant , Child , Anesthetics, Intravenous/administration & dosage , Hypnotics and Sedatives/administration & dosage
7.
Int J Pediatr Otorhinolaryngol ; 182: 112029, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38972249

ABSTRACT

OBJECTIVE: The present investigation examined how factors such as cleft type, age of primary palatal surgery, diagnosed syndromes, hearing problems, and malocclusions could predict persistent speech difficulties and the need for speech services in school-aged children with cleft palate. METHODS: Participants included 100 school-aged children with cleft palate. Americleft speech protocol was used to assess the perceptual aspects of speech production. The logistic regression was performed to evaluate the impact of independent variables (IV) on the dependent variables (DV): intelligibility, posterior oral CSCs, audible nasal emission, hypernasality, anterior oral CSCs, and speech therapy required. RESULTS: Sixty-five percent of the children were enrolled in (or had received) speech therapy. The logistic regression model shows a good fit to the data for the need for speech therapy (Hosmer and Lemeshow's χ2(8)=9.647,p=.291). No IVs were found to have a significant impact on the need for speech therapy. A diagnosed syndrome was associated with poorer intelligibility (Pulkstenis-Robinson's χ2(11)=7.120,p=.789). Children with diagnosed syndromes have about six times the odds of a higher hypernasality rating (Odds Ratio = 5.703) than others. The cleft type was significantly associated with audible nasal emission (Fisher'sexactp=.006). At the same time, malocclusion had a significant association with anterior oral CSCs (Fisher'sexactp=.005). CONCLUSIONS: According to the latest data in the Cleft Registry and Audit Network Annual Report for the UK, the majority of children with cleft palate attain typical speech by age five. However, it is crucial to delve into the factors that may influence the continuation of speech disorders beyond this age. This understanding is vital for formulating intervention strategies aimed at mitigating the long-term effects of speech disorders as individuals grow older.


Subject(s)
Cleft Lip , Cleft Palate , Speech Disorders , Speech Intelligibility , Speech Therapy , Humans , Cleft Palate/complications , Cleft Palate/surgery , Male , Child , Female , Retrospective Studies , Cleft Lip/surgery , Cleft Lip/complications , Speech Disorders/etiology , Speech Therapy/methods , Logistic Models , Speech Production Measurement , Adolescent
8.
Trials ; 25(1): 453, 2024 Jul 04.
Article in English | MEDLINE | ID: mdl-38965585

ABSTRACT

BACKGROUND: Cleft lip and palate (CLP) are among the most common congenital anomaly that affects up to 33,000 newborns in India every year. Nasoalveolar moulding (NAM) is a non-surgical treatment performed between 0 and 6 months of age to reduce the cleft and improve nasal aesthetics prior to lip surgery. The NAM treatment has been a controversial treatment option with 51% of the cleft teams in Europe, 37% of teams in the USA and 25 of cleft teams in India adopting this methodology. This treatment adds to the already existing high burden of care for these patients. Furthermore, the supporting evidence for this technique is limited with no high-quality long-term clinical trials available on the effectiveness of this treatment. METHOD: The NAMUC study is an investigator-initiated, multi-centre, single-blinded randomized controlled trial with a parallel group design. The study will compare the effectiveness of NAM treatment provided prior to lip surgery against the no-treatment control group in 274 patients with non-syndromic unilateral complete cleft lip and palate. The primary endpoint of the trial is the nasolabial aesthetics measured using the Asher McDade index at 5 years of age. The secondary outcomes include dentofacial development, speech, hearing, cost-effectiveness, quality of life, patient perception, feeding and intangible benefits. Randomization will be carried out via central online system and stratified based on cleft width, birth weight and clinical trial site. DISCUSSION: We expect the results from this study on the effectiveness of treatment with NAM appliance in the long term along with the cost-effectiveness evaluation can eliminate the dilemma and differences in clinical care across the globe. TRIAL REGISTRATION: ClinicalTrials.gov CTRI/2022/11/047426 (Clinical Trials Registry India). Registered on 18 November 2022. The first patient was recruited on 11 December 2022. CTR India does not pick up on Google search with just the trial number. The following steps have to be carried out to pick up. How to search: ( https://ctri.nic.in/Clinicaltrials/advsearch.php -use the search boxes by entering the following details: Interventional trial > November 2022 > NAMUC).


Subject(s)
Cleft Lip , Cleft Palate , Multicenter Studies as Topic , Randomized Controlled Trials as Topic , Humans , Cleft Lip/surgery , Cleft Lip/therapy , Cleft Palate/surgery , Cleft Palate/therapy , Infant , Single-Blind Method , Treatment Outcome , Infant, Newborn , India , Esthetics , Alveolar Process/surgery , Female , Male , Nose/abnormalities , Palatal Obturators
9.
Clin Oral Investig ; 28(7): 409, 2024 Jul 02.
Article in English | MEDLINE | ID: mdl-38954126

ABSTRACT

OBJECTIVES: Orofacial clefts are complex congenital anomalies that call for comprehensive treatment based on a thorough assessment of the anatomy. This study aims to examine the effect of cleft type on craniofacial morphology using geometric morphometrics. MATERIALS AND METHODS: We evaluated lateral cephalograms of 75 patients with bilateral cleft lip and palate, 63 patients with unilateral cleft lip and palate, and 76 patients with isolated cleft palate. Generalized Procrustes analysis was performed on 16 hard tissue landmark coordinates. Shape variability was studied with principal component analysis. In a risk model approach, the first nine principal components (PC) were used to examine the effect of cleft type. RESULTS: We found statistically significant differences in the mean shape between cleft types. The difference is greatest between bilateral cleft lip and palate and isolated cleft palate (distance of means 0.026, P = 0.0011). Differences between cleft types are most pronounced for PC4 and PC5 (P = 0.0001), which together account for 10% of the total shape variation. PC4 and PC5 show shape differences in the ratio of the upper to the lower face, the posterior mandibular height, and the mandibular angle. CONCLUSIONS: Cleft type has a statistically significant but weak effect on craniofacial morphological variability in patients with non-syndromic orofacial clefts, mainly in the vertical dimension. CLINICAL RELEVANCE: Understanding the effects of clefts on craniofacial morphology is essential to providing patients with treatment tailored to their specific needs. This study contributes to the literature particularly due to our risk model approach in lieu of a prediction model.


Subject(s)
Anatomic Landmarks , Cephalometry , Cleft Lip , Cleft Palate , Humans , Cleft Palate/pathology , Cleft Lip/pathology , Male , Female , Adolescent , Child , Principal Component Analysis
10.
Nagoya J Med Sci ; 86(2): 223-236, 2024 May.
Article in English | MEDLINE | ID: mdl-38962411

ABSTRACT

Cleft palate is the most common facial birth defect worldwide. It is caused by environmental factors or genetic mutations. Environmental factors such as pharmaceutical exposure in women are known to induce cleft palate. The aim of the present study was to investigate the protective effect of Sasa veitchii extract against medicine-induced inhibition of proliferation of human embryonic palatal mesenchymal cells. We demonstrated that all-trans-retinoic acid inhibited human embryonic palatal mesenchymal cell proliferation in a dose-dependent manner, whereas dexamethasone treatment had no effect on cell proliferation. Cotreatment with Sasa veitchii extract repressed all-trans-retinoic acid-induced toxicity in human embryonic palatal mesenchymal cells. We found that cotreatment with Sasa veitchii extract protected all-trans-retinoic acid-induced cyclin D1 downregulation in human embryonic palatal mesenchymal cells. Furthermore, Sasa veitchii extract suppressed all-trans-retinoic acid-induced miR-4680-3p expression. Additionally, the expression levels of the genes that function downstream of the target genes ( ERBB2 and JADE1 ) of miR-4680-3p in signaling pathways were enhanced by cotreatment with Sasa veitchii extract and all-trans-retinoic acid compared to all-trans-retinoic acid treatment. These results suggest that Sasa veitchii extract suppresses all-trans-retinoic acid-induced inhibition of cell proliferation via modulation of miR-4680-3p expression.


Subject(s)
Cell Proliferation , Cleft Palate , Palate , Plant Extracts , Tretinoin , Humans , Tretinoin/pharmacology , Cell Proliferation/drug effects , Palate/drug effects , Palate/embryology , Palate/cytology , Plant Extracts/pharmacology , MicroRNAs/metabolism , MicroRNAs/genetics , MicroRNAs/drug effects , Cyclin D1/metabolism , Cyclin D1/genetics , Cells, Cultured , Mesenchymal Stem Cells/drug effects , Mesenchymal Stem Cells/metabolism , Signal Transduction/drug effects
11.
BMJ Open ; 14(7): e084737, 2024 Jul 05.
Article in English | MEDLINE | ID: mdl-38969383

ABSTRACT

INTRODUCTION: Cleft lip and/or palate (CL/P) affects 1 in 700 live births globally. Children born with CL/P and their families face various challenges throughout the child's development. Extant research is often limited by small numbers and single-centre data. The Cleft Collective, a national cohort study in the UK, aims to build a resource, available to collaborators across the globe, to understand causes, best treatments and long-term outcomes for those born with CL/P, ultimately seeking to enhance their quality of life through improved understanding and care. METHODS AND ANALYSIS: A longitudinal prospective cohort study of children born with CL/P and their families. Recruitment occurs across the UK and started in November 2013. Recruitment will continue until September 2027 with an estimated final sample of 4822 children born with CL/P (1157 cleft lip including/excluding the alveolus; 2112 cleft palate only; 1042 unilateral cleft lip and palate and 511 bilateral cleft lip and palate). Biological samples are collected from all recruited members of the family. Parental and child questionnaires are collected at key time points throughout the child's development. Surgical data are collected at the time of surgical repair of the child's cleft. Consent is obtained to link to external data sources. Nested substudies can be hosted within the cohort. Regular engagement with participants takes place through birthday cards for the children, social media posts and newsletters. Patient and Public Involvement is conducted through the Cleft Lip And Palate Association and Cleft Collective Patient Consultation Group who provide insightful and essential guidance to the Cleft Collective throughout planning and conducting research. ETHICS AND DISSEMINATION: The Cleft Collective was ethically approved by the National Research Ethics Service committee South West-Central Bristol (REC13/SW/0064). Parental informed consent is required for participation. Findings from the Cleft Collective are disseminated through peer-reviewed publications, conference presentations, newsletters and social media.


Subject(s)
Cleft Lip , Cleft Palate , Humans , Cleft Lip/surgery , Cleft Lip/epidemiology , Cleft Palate/surgery , Cleft Palate/epidemiology , Prospective Studies , Longitudinal Studies , United Kingdom , Child , Infant , Quality of Life , Child, Preschool , Female , Male , Research Design , Surveys and Questionnaires , Parents/psychology
12.
Clin Oral Investig ; 28(8): 449, 2024 Jul 26.
Article in English | MEDLINE | ID: mdl-39060480

ABSTRACT

OBJECTIVE: The aim of the present study was to objectively assess the degree of residual facial asymmetry after primary treatment of non-syndromic unilateral cleft lip and palate (UCLP) in children and to correlate it with subjective ratings of facial appearance. MATERIALS AND METHODS: Stereophotometry was used to record the faces of 89 children with UCLP for comparison of cleft and non-cleft sides up to 5 years after primary cleft closure. Root mean square values were calculated to measure the difference between the shape of cleft and non-cleft sides of the face and were compared to controls without a cleft lip. The Asher-McDade Aesthetic Index (AMAI) was used for subjective rating of the nasolabial area through 12 laypersons. RESULTS: Children with a cleft lip (CL) showed no significant difference in RMS values compared to controls. Significant differences occurred when the evaluation was limited to the nasolabial area, however only in patients with cleft lip alveolus (CLA) and cleft lip palate (CLAP)(p < 0.001). In contrast, subjective ratings showed significantly higher values for all three cleft severity groups (CL, CLA, CLAP) compared to controls (p < 0.001). There was a non-linear correlation between the RMS (root mean square) values and the AMAI score. CONCLUSIONS: Even non-significant discrete objective deviations from facial symmetry in children after primary closure of UCLP are vigilantly registered in subjective ratings and implemented in the judgement of facial appearance. CLINICAL RELEVANCE: 3D stereophotometry is a usefull tool in monitoring asymmetry in patients with a cleft.


Subject(s)
Cleft Lip , Cleft Palate , Facial Asymmetry , Humans , Cleft Lip/surgery , Cleft Palate/surgery , Female , Male , Child , Esthetics , Child, Preschool , Photogrammetry
13.
Med Sci Monit ; 30: e944294, 2024 Jul 06.
Article in English | MEDLINE | ID: mdl-38970244

ABSTRACT

BACKGROUND Non-syndromic cleft lip with cleft palate (NSCLP) is one of the most common congenital birth defects worldwide; it causes lifelong problems and imposes burdens on patients and their families. This study aimed to describe the genomic analysis and identification of de novo regulated endocrine-specific protein 18 (RESP18) rs2385404 and rs2385405 gene polymorphisms associated with NSCLP in a southern Chinese family and to improve prevention, treatment, and prognosis of NSCLP. MATERIAL AND METHODS We performed a genome-wide association study (GWAS) to investigate the association of NSCLP phenotype with gene mutation. We investigated a 5-persons NSCLP family to screen the genetic variation of Han nationality in southern Chinese. Whole-genome sequencing (WGS) was used to detect all candidate genetic variants, and whole-exome sequencing (WES) was implemented to further verify mutations. The Clinical Variation Data Base (ClinVar) was employed for screening gene mutations. Finally, Sanger sequencing was applied to verify gene variations. RESULTS The combined analysis of WGS, WES, and ClinVar showed that a total of 9 variation positions overlapped among the 3 study cohorts. Sanger sequencing verified Glu amino acid variation in 2 mutation sites (rs2385404, rs2385405) from the RESP18 gene, which caused abnormal RESP18 function and was associated with hereditary NSCLP. CONCLUSIONS The combined genomic results showed that 2 mutations (rs2385404 and rs2385405) of the RESP18 gene were related to NSCLP in the family. The RESP18 gene may play an important role in the etiology and pathogenesis of cleft lip and palate.


Subject(s)
Asian People , Cleft Lip , Cleft Palate , Genome-Wide Association Study , Mutation , Pedigree , Humans , Cleft Lip/genetics , Cleft Palate/genetics , Female , Mutation/genetics , Male , Asian People/genetics , China , Polymorphism, Single Nucleotide/genetics , Genetic Predisposition to Disease/genetics , Exome Sequencing/methods , Whole Genome Sequencing/methods , Phenotype , East Asian People
14.
Gen Physiol Biophys ; 43(4): 313-319, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38953573

ABSTRACT

The work presents the connection between the infection of COVID-19 during pregnancy and non-syndromic orofacial clefts (NSOFC). Aim of the study was to compare the incidence of COVID-19 disease during mother´s pregnancy between a group of the children with NSOFC and a control group of the children without NSOFC. COVID-19 was confirmed by polymerase chain reaction (PCR) test. The study showed significantly higher incidence of COVID-19 disease in the group of mothers who gave birth to a child with NSOFC in comparison to the group of mothers who gave birth to a child without NSOFC. Our results indicate the possible participation of the infection of COVID-19 in the formation of NSOFCs.


Subject(s)
COVID-19 , Cleft Lip , Cleft Palate , Pregnancy Complications, Infectious , Humans , Cleft Lip/epidemiology , Cleft Palate/epidemiology , COVID-19/epidemiology , Female , Pregnancy , Pregnancy Complications, Infectious/epidemiology , Pregnancy Complications, Infectious/virology , Incidence , Adult , Male , Infant, Newborn
15.
Clin Oral Investig ; 28(8): 441, 2024 Jul 24.
Article in English | MEDLINE | ID: mdl-39046574

ABSTRACT

OBJECTIVES: After cleft lip and/or palate (CL/P) repair, children may develop velopharyngeal insufficiency (VPI) leading to speech imperfections, necessitating additional speech correcting surgery. This study examines the incidence of VPI and speech correcting surgery after Sommerlad's palatoplasty for CL/P, and its association with various clinical features. MATERIALS AND METHODS: A retrospective cohort study was performed in the Wilhelmina Children's Hospital in Utrecht and child records from 380 individuals with CL/P registered from 2008 to 2017 were retrospectively reviewed. Inclusion criteria comprised the diagnosis of CL/P, primary palatoplasty according to Sommerlad's technique, and speech assessment at five years or older. Association between cleft type and width, presence of additional genetic disorders and postoperative complications (palatal dehiscence, fistula) were assessed using odds ratios and chi squared tests. RESULTS: A total of 239 patients were included. The VPI rate was 52.7% (n = 126) and in 119 patients (49.8%) a speech correcting surgery was performed. Severe cleft type, as indicated by a higher Veau classification, was associated with a significant higher rate of speech correcting surgeries (p = 0.033). Significantly more speech correcting surgeries were performed in patients with a cleft width >10 mm, compared to patients with a cleft width ≤10 mm (p < 0.001). Patients with oronasal fistula underwent significantly more speech correcting surgeries than those without fistula (p = 0.004). No statistically significant difference was found in the incidence of speech correcting surgery between patients with and without genetic disorders (p = 0.890). CONCLUSIONS/CLINICAL RELEVANCE: Variations in cleft morphology, cleft width and complications like oronasal fistula are associated with different speech outcomes. Future research should focus on creating a multivariable prediction model for speech correcting surgery in CL/P patients.


Subject(s)
Cleft Lip , Cleft Palate , Postoperative Complications , Velopharyngeal Insufficiency , Humans , Retrospective Studies , Male , Cleft Palate/surgery , Female , Velopharyngeal Insufficiency/surgery , Cleft Lip/surgery , Child , Child, Preschool , Netherlands , Infant , Treatment Outcome , Plastic Surgery Procedures/methods , Adolescent , Hospitals, Pediatric
16.
Plast Reconstr Surg ; 154(2): 378e-390e, 2024 Aug 01.
Article in English | MEDLINE | ID: mdl-39046844

ABSTRACT

LEARNING OBJECTIVES: After studying this article, the participant should be able to: (1) Describe the pathology of velopharyngeal dysfunction (VPD) as it relates to patients with a cleft palate. (2) Use the perceptual speech assessment and objective diagnostic tools to determine the presence or absence of VPD. (3) Describe the surgical options available for the treatment of patients with VPD. (4) Develop an evidence-based, customized treatment plan for VPD founded on objective considerations. SUMMARY: To treat patients with cleft palate effectively, the surgeon must understand the diagnosis and surgical management of cleft-associated velopharyngeal dysfunction. The authors review diagnostic modalities including perceptual speech assessment, video nasendoscopy, fluoroscopy, magnetic resonance imaging, and nasometry. Surgical treatments including palatal lengthening with buccal myomucosal flaps, conversion Furlow palatoplasty, sphincter pharyngoplasty, and pharyngeal flap are discussed. Selection of an optimal surgical treatment is addressed.


Subject(s)
Cleft Palate , Velopharyngeal Insufficiency , Humans , Velopharyngeal Insufficiency/diagnosis , Velopharyngeal Insufficiency/surgery , Velopharyngeal Insufficiency/etiology , Velopharyngeal Insufficiency/physiopathology , Cleft Palate/surgery , Cleft Palate/complications , Plastic Surgery Procedures/methods , Surgical Flaps/transplantation
18.
Acta Odontol Scand ; 83: 404-411, 2024 Jun 19.
Article in English | MEDLINE | ID: mdl-38895899

ABSTRACT

OBJECTIVE: Children with cleft lip and palate (CLP) have a greater risk of dental caries. The parents' knowledge and attitudes may have an impact on their children's oral health and dietary habits. Therefore, the aim of this study was to assess the socio-demographic characteristics, oral health knowledge, oral health behaviours, and habits of the parents in addition to the relationship with the oral health and dietary practices of their children with CLP. MATERIAL AND METHODS: The parents of 343 patients with CLP participated in the study. An online questionnaire with 52 questions regarding sociodemographic characteristics, oral health and oral hygiene practices was presented to them. RESULTS: Parents with higher level of education had better oral health knowledge (p < 0.05). Logistic regression analysis showed that the factors affecting the child's tooth brushing habits were the mother's age (odds ratio [OR] = 1.071, 95% confidence interval [CI]: 1.062-1.153), the father's employment status (OR = 2.089, 95%CI: 1.065-4.097), and the mother's last dental visit (OR = 1.995, 95%CI: 1.119-3.557). The factors affecting the child's toothpaste usage were the mother's age (OR = 1.106, 95%CI: 1.030-1.114), the father's employment status (OR = 2.124, 95%CI: 1.036-4.354), and the mother's last dental visit (OR = 2.076, 95%CI: 1.137-3.79). CONCLUSIONS: Parental factors have a significant influence on the oral health-related behaviours of children with CLP.


Subject(s)
Cleft Lip , Cleft Palate , Health Knowledge, Attitudes, Practice , Oral Health , Parents , Humans , Cleft Lip/psychology , Cleft Palate/psychology , Male , Female , Parents/psychology , Child , Surveys and Questionnaires , Adult , Oral Hygiene/statistics & numerical data , Sociodemographic Factors , Child, Preschool
19.
Stomatologiia (Mosk) ; 103(3): 11-15, 2024.
Article in Russian | MEDLINE | ID: mdl-38904553

ABSTRACT

OBJECTIVE: To develop a universal system for assessing the speech function in patients with congenital palatal cleft in the postoperative period. MATERIALS AND METHODS: A universal system for assessing the speech function for patients with a palatal cleft can be applied both after the primary operation of uranoplasty and for patients diagnosed with velopharyngeal insufficiency (VPI). The patient's speech is assessed according to the following criteria: defects in the pronunciation of consonants by place of articulation: labial, labiodental, lingual-dental, lingual-palatal, lingual-alveolar; speech breathing; tongue position; directed air stream; voicing disorders; The patient's is also evaluated for the following findings: hypernasality (reflected speech); hypernasality (spontaneous speech); hyponasality; pharyngeal reflex; audible nasal emission/turbulence; facial grimaces; speech intelligibility. The speech therapy and dental assessments are added to obtain a value characterizing the patient's condition: from 0 to 10 scoring indicates than only speech therapy correction is needed; from 11 to 18 - the decision on the necessity of surgical treatment is made by the surgeon together with the speech therapist, from 18 to 25 - surgical treatment is necessary with subsequent sessions with a speech therapist. RESULTS: With the help of this questionnaire, the operating surgeon can more accurately and objectively assess in dynamics the result of the surgical treatment, regardless of the results of speech therapy treatment in the postoperative period. The creation of this scoring system for speech assessment is aimed at objectivizing the results of uranoplasty and speech-improving operations. It allows the surgeon to compare the effectiveness of different surgical methods. CONCLUSION: The universal scoring system for assessing the state of speech function can be applied in the diagnosis of a patient with a palatal cleft both after the primary operation on the palate and after corrective surgical interventions. It allows monitoring progress and identifying dynamics in surgical and speech therapy treatment.


Subject(s)
Cleft Palate , Velopharyngeal Insufficiency , Humans , Cleft Palate/surgery , Cleft Palate/complications , Velopharyngeal Insufficiency/surgery , Velopharyngeal Insufficiency/physiopathology , Male , Female , Speech Disorders/etiology , Speech Disorders/rehabilitation , Speech Disorders/diagnosis , Speech Therapy/methods , Child , Adolescent , Speech/physiology , Surveys and Questionnaires , Postoperative Period , Speech Intelligibility
20.
Ann Plast Surg ; 92(6S Suppl 4): S387-S390, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38857000

ABSTRACT

ABSTRACT: Accessing treatment at ACPA (American Cleft Palate-Craniofacial Association)-approved centers is challenging for individuals in rural communities. This study aims to assess how pediatric plastic surgery outreach clinics impact access for patients with orofacial cleft and craniosynostosis in Mississippi. An isochrone map was used to determine mean travel times from Mississippi counties to the sole pediatric hospital and the only ACPA-approved team in the state. This analysis was done before and after the establishment of two outreach clinics to assess differences in travel times and cost of travel to specialized plastic surgery care. Two sample t-tests were used for analysis.The addition of outreach clinics in North and South Mississippi led to a significant reduction in mean travel times for patients with cleft and craniofacial diagnoses across the state's counties (1.81 hours vs 1.46 hours, P < 0.001). Noteworthy travel cost savings were observed after the introduction of outreach clinics when considering both the pandemic gas prices ($15.27 vs $9.80, P < 0.001) and post-pandemic prices ($36.52 vs $23.43, P < 0.001).The addition of outreach clinics in Mississippi has expanded access to specialized healthcare for patients with cleft and craniofacial differences resulting in reduced travel time and cost savings for these patients. Establishing specialty outreach clinics in other rural states across the United States may contribute significantly to reducing burden of care for patients with clefts and craniofacial differences. Future studies can further investigate whether the inclusion of outreach clinics improves follow-up rates and surgical outcomes for these patients.


Subject(s)
Cleft Lip , Cleft Palate , Health Services Accessibility , Humans , Mississippi , Cleft Palate/surgery , Cleft Palate/economics , Health Services Accessibility/statistics & numerical data , Health Services Accessibility/economics , Cleft Lip/surgery , Cleft Lip/economics , Craniosynostoses/surgery , Craniosynostoses/economics , Plastic Surgery Procedures/statistics & numerical data , Plastic Surgery Procedures/economics , Community-Institutional Relations , Male , Child , Travel/statistics & numerical data
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