Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 23.942
Filter
1.
Indian J Dent Res ; 35(1): 117-119, 2024 Jan 01.
Article in English | MEDLINE | ID: mdl-38934763

ABSTRACT

RATIONALE: This case report presents a rare combination of congenital anomalies in an otherwise healthy male infant born at 36 weeks. The infant was diagnosed with congenital maxillomandibular synechia, ectrodactyly, and ankyloglossia superior syndrome (ASS). PATIENT CONCERNS: Inability to open the mouth completely, feeding challenges, and a cleft palate. The infant was stabilized through successful positive pressure ventilation via a face mask at birth and enteral feeding was initiated via a feeding gastrostomy. EXAMINATION: Diagnostic tests revealed a midline palatal cleft, hypoplastic jaws, persistent metopic suture, and a bony fusion at the midline. TREATMENT: Sectioning of the bony spur along the midline and achieving a mouth opening of 2 cm post-manipulation. The patient is under follow-up, with future treatment plans including cleft palate correction at 12 months and potential frontomandibular and lower jaw advancement depending on growth trajectories. TAKEAWAY LESSONS: This case underscores the complexity of managing multiple congenital anomalies and the need for individualized treatment plans.


Subject(s)
Cleft Palate , Humans , Male , Cleft Palate/surgery , Tongue/abnormalities , Tongue/surgery , Palate, Hard/abnormalities , Palate, Hard/surgery , Infant, Newborn , Abnormalities, Multiple , Maxilla/abnormalities , Maxilla/surgery , Ankyloglossia/surgery , Jaw Abnormalities/surgery , Mandible/abnormalities , Mandible/surgery
2.
Clin Oral Investig ; 28(7): 403, 2024 Jun 28.
Article in English | MEDLINE | ID: mdl-38940970

ABSTRACT

OBJECTIVES: The COHQoL is a set of questionnaires used to evaluate the impact of oral health on children's quality of life. Although the CPQ8-10 and the P-CPQ have been translated and validated in French, the CPQ11-14 14 has not yet been validated. The aim was to develop a French version of the CPQ11-14 16-items. MATERIALS AND METHODS: The French version of CPQ11-14 was obtained by a forward-backward translation process and pretested. The final version was tested on children aged 11-14 and divided into three groups: children with orofacial clefts, children with rare dental diseases other than clefts, and children without anomalies. We conducted a cross-sectional study and evaluated the reliability with test-retest and internal consistency, and the questionnaire validity with construct validity and discriminant validity. We performed an Exploratory Factory Analysis (EFA). RESULTS: 187 children tested the questionnaire. The ICC of the test-retest was 0.76 and the Cronbach's alpha was 0.77. The correlation between the CPQ11-14 and self-assessment of oral health and general well-being was > 0.2. Patients with orofacial clefts and rare diseases had significantly higher scores for overall short-form CPQ11-14. The EFA revealed six factors. CONCLUSION: The French CPQ11-14 is valid to assess the impact of oral health on children's quality of life. CLINICAL RELEVANCE: The translation of this questionnaire into French will enable us to assess the impact of oral health on the quality of life of adolescents. This questionnaire complements the 8-10 years version of the CPQ, as well as the parental version that can be used in conjunction with the questionnaire.


Subject(s)
Oral Health , Quality of Life , Humans , Child , Surveys and Questionnaires , Female , Adolescent , Male , Cross-Sectional Studies , Reproducibility of Results , France , Translations , Cleft Palate/psychology , Cleft Lip/psychology
3.
J Mother Child ; 28(1): 45-50, 2024 Feb 01.
Article in English | MEDLINE | ID: mdl-38920016

ABSTRACT

BACKGROUND: Van der Woude syndrome (VWS) is a rare congenital malformation characterized by lower lip pits among patients with a lip and/or palate cleft. It is transmitted by an autosomal dominant inheritance with variable expressivity. METHODS: The study group consisted of 24 consecutive patients (13 males and 11 females) with VWS operated on at a single center between 2009 and 2022. They suffered from: bilateral cleft lip and palate - 6 patients; unilateral cleft lip and palate - 9 patients; cleft lip - 1 patient; and isolated cleft palate - 8 patients. RESULTS: In 16 (66%) cases pits of lower lip occurred on both side of midline, while in 8 (34%) the pits were detected unilaterally. The primary cleft repairs were performed according to one-stage principle at the mean age of 8.6 months (SD 1.4, range 6-12). In all patients lower lip pits repairs were performed after the primary cleft repairs as a separate procedure at the mean age of 37 months (SD 11.3 range 14-85). The mean number of all primary repairs of the syndrome-both cleft defect and lower lip pits repairs-was 2.46. Nine patients (37.5%) required additional secondary corrections of the lower lip due to the poor aesthetic post-operative outcome. CONCLUSIONS: The frequent need for secondary corrections of residual lower lip deformities indicates the considerable difficulties in obtaining a satisfactory outcome of the repairs to lip pits caused by VWS. The average number of the primary surgical interventions in evaluated material remained low.


Subject(s)
Abnormalities, Multiple , Cleft Lip , Cleft Palate , Lip , Humans , Cleft Lip/surgery , Female , Cleft Palate/surgery , Male , Retrospective Studies , Lip/abnormalities , Lip/surgery , Abnormalities, Multiple/surgery , Child, Preschool , Infant , Child , Treatment Outcome , Plastic Surgery Procedures/methods , Cysts/surgery
4.
Rev Paul Pediatr ; 42: e2023169, 2024.
Article in English | MEDLINE | ID: mdl-38922187

ABSTRACT

OBJECTIVE: To verify the prevalence and perform the clinical characterization of oral clefts in a sample of patients with trisomy of chromosome 18 in Southern Brazil. METHODS: This was a retrospective cross-sectional study, performed in a reference clinical genetic service in Southern Brazil. The initial sample consisted of 77 patients diagnosed in the neonatal period with trisomy 18 treated at the Clinical Genetics Service of a referral hospital at Federal University of Health Sciences of Porto Alegre (UFCSPA). The patients' diagnosis was confirmed by karyotype and care was provided during their stay in the intensive care unit (ICU) of the hospital that is a reference in Southern Brazil for care for malformed patients. The period covered was from 1975 to 2020. RESULTS: During the study period, 77 patients diagnosed with trisomy 18 were treated, most of them in the ICU. Of these, 13 individuals were excluded due to incomplete data. The final sample consisted of 64 patients with an average age of 2.4 years of life, ranging from one day to 16 years old, the majority of whom were female. Regarding face dysmorphisms identified in the sample, three (4,68%) patients had cleft lip and two (3,11%) had cleft lip and palate. CONCLUSIONS: This study contributed to the recognition of the characteristics and prevalence of oral clefts in individuals with trisomy 18 in a sample of patients from Southern Brazil. In addition, we described the clinical alterations found in patients with oral clefts, as well as other associated comorbidities, such as cardiac, neurological and pulmonary comorbidities, as well as cranial and facial dysmorphisms.


Subject(s)
Cleft Lip , Cleft Palate , Trisomy 18 Syndrome , Humans , Cross-Sectional Studies , Female , Retrospective Studies , Male , Trisomy 18 Syndrome/epidemiology , Trisomy 18 Syndrome/diagnosis , Trisomy 18 Syndrome/genetics , Prevalence , Adolescent , Infant, Newborn , Brazil/epidemiology , Child , Infant , Child, Preschool , Cleft Palate/epidemiology , Cleft Palate/genetics , Cleft Lip/epidemiology , Cleft Lip/genetics
5.
Lasers Med Sci ; 39(1): 160, 2024 Jun 20.
Article in English | MEDLINE | ID: mdl-38902432

ABSTRACT

This review aims to assess the efficacy and safety of laser therapy in managing scars resulting from cleft lip and/or palate (CL/P) repair surgeries, as well as to determine the optimal timing for intervention. A systematic search was conducted across four databases using a predefined search strategy. Studies included were randomized controlled trials, non-randomized studies, and case series focusing on laser therapy for CL/P scars. Data extraction and analysis were performed using Revman Software. A total of two randomized controlled trials, four non-randomized studies, and three case series were included in the analysis. The fractional CO2 laser was the most commonly utilized type of laser. Following laser therapy, there was a significant decrease in Vancouver Scar Scale (VSS) scores by 4.05 (95% CI, 2.10-5.99). Meta-analysis revealed that laser treatment groups exhibited a significantly lower mean VSS score (1.3; 95% CI, 0.02-2.67) compared to control groups. Moreover, initiating laser therapy intervention at one month postoperatively resulted in a significantly lower VSS score compared to initiation at three months postoperatively (difference of 1.70; 95% CI, 1.33-2.08). No severe complications were reported. Laser therapy demonstrates effectiveness and safety in improving CL/P scars, with earlier intervention yielding greater benefits.


Subject(s)
Cicatrix , Cleft Lip , Cleft Palate , Humans , Cicatrix/etiology , Cicatrix/radiotherapy , Cleft Lip/surgery , Cleft Palate/surgery , Laser Therapy/methods , Laser Therapy/adverse effects , Lasers, Gas/therapeutic use , Low-Level Light Therapy/methods , Treatment Outcome
6.
South Med J ; 117(6): 316-322, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38830585

ABSTRACT

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


Subject(s)
Cleft Lip , Cleft Palate , Humans , Cleft Palate/epidemiology , Cleft Lip/epidemiology , Mississippi/epidemiology , Incidence , Female , Male , Follow-Up Studies , Infant, Newborn , Infant , Retrospective Studies
7.
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
8.
Ann Plast Surg ; 92(6S Suppl 4): S401-S403, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38857003

ABSTRACT

OBJECTIVE: This study examines an Enhanced Recovery After Surgery (ERAS) protocol for patients with cleft palate and hypothesizes that patients who followed the protocol would have decreased hospital length of stay and decreased narcotic usage than those who did not. DESIGN: Retrospective cohort study. SETTING: The study takes place at a single tertiary children's hospital. PATIENTS: All patients who underwent cleft palate repair during a 10-year period (n = 242). INTERVENTIONS: All patients underwent cleft palate repair with the most recent cohort following a new ERAS protocol. MAIN OUTCOME MEASURES: Primary outcomes included hospital length of stay and narcotic usage in the first 24 hours after surgery. RESULTS: Use of local bupivacaine during surgery was associated with decreased initial 24-hour morphine equivalent usage: 2.25 vs 3.38 mg morphine equivalent (MME) (P < 0.01), and a decreased hospital length of stay: 1.71 days vs 2.27 days (P < 0.01). The highest 24-hour morphine equivalent a patient consumed prior to the ERAS protocol implementation was 24.53 MME, compared with 6.3 MME after implementation. Utilization of the ERAS protocol was found to be associated with a decreased hospital length of stay: 1.67 vs 2.18 days (P < 0.01). CONCLUSIONS: Use of the proposed ERAS protocol may lead to lower narcotic usage and decreased length of stay.


Subject(s)
Cleft Palate , Clinical Protocols , Enhanced Recovery After Surgery , Length of Stay , Humans , Cleft Palate/surgery , Retrospective Studies , Length of Stay/statistics & numerical data , Female , Male , Infant , Pain, Postoperative/drug therapy , Bupivacaine/administration & dosage , Bupivacaine/therapeutic use , Analgesics, Opioid/therapeutic use , Treatment Outcome , Child, Preschool , Cohort Studies , Anesthetics, Local/administration & dosage , Anesthetics, Local/therapeutic use
9.
Ann Plast Surg ; 92(6S Suppl 4): S404-S407, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38857004

ABSTRACT

INTRODUCTION: Fistula formation and velopharyngeal insufficiency (VPI) are complications of cleft palate repair that often require surgical correction. The goal of the present study was to examine a single institution's experience with cleft palate repair with respect to fistula formation and need for surgery to correct velopharyngeal dysfunction. METHODS: Institutional review board approval was obtained. Patient demographics and operative details over a 10-year period were collected. Primary outcomes measured were development of fistula and need for surgery to correct VPI. Chi-square tests and independent t tests were utilized to determine significance (0.05). RESULTS: Following exclusion of patients without enough information for analysis, 242 patients were included in the study. Fistulas were reported in 21.5% of patients, and surgery to correct velopharyngeal dysfunction was needed in 10.7% of patients. Two-stage palate repair was associated with need for surgery to correct VPI (P = 0.014). Furlow palatoplasty was associated with decreased rate of fistula formation (P = 0.002) and decreased need for surgery to correct VPI (P = 0.014). CONCLUSION: This study reiterates much of the literature regarding differing cleft palate repair techniques. A 2-stage palate repair is often touted as having less growth restriction, but the present study suggests this may yield an increased need for surgery to correct VPI. Prior studies of Furlow palatoplasty have demonstrated an association with higher rates of fistula formation. The present study demonstrated a decreased rate of fistula formation with the Furlow technique, which may be due to the use of the Children's Hospital of Philadelphia modification. This study suggests clinically superior outcomes of the Furlow palatoplasty over other techniques.


Subject(s)
Cleft Palate , Postoperative Complications , Velopharyngeal Insufficiency , Humans , Cleft Palate/surgery , Male , Female , Velopharyngeal Insufficiency/surgery , Velopharyngeal Insufficiency/etiology , Treatment Outcome , Postoperative Complications/epidemiology , Postoperative Complications/etiology , Child, Preschool , Infant , Retrospective Studies , Oral Fistula/etiology , Oral Fistula/surgery , Plastic Surgery Procedures/methods , Plastic Surgery Procedures/adverse effects , Child , Follow-Up Studies , Speech Disorders/etiology , Adolescent
10.
Birth Defects Res ; 116(6): e2364, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38847124

ABSTRACT

PURPOSE: Patients with cleft lip/palate need an interdisciplinary approach. Delays in the care of these patients and difficulties in accessing health services have been reported in different low-, middle-, and high-income countries. This study aimed to characterize worldwide publications on access to cleft lip and palate health treatment. METHODS: Databases were selected systematically and searched until July 2021. The review process followed standard methods for systematic reviews. The study quality was evaluated using the Strengthening the Reporting of Observational studies in Epidemiology guidelines for observational studies. RESULTS: A total of 289 publications were identified using our search strategy. After reviewing the titles and reading the abstracts and full text, 16 studies met the inclusion criteria in the review. In one study, financial difficulties obtained the attention of the professionals who attended to cleft lip/palate patients. Ethnic disparities, problems in transportation, and long distances between users and health centers were found. Additionally, there was misinformation about treatment and follow-up among the caregivers of patients with cleft lip/palate. CONCLUSION: When reviewing the literature on access to health services for patients with cleft lip/palate, barriers were reported in access to information, physical access to care centers, financial resources to cover expenses for treatment, and opportunities in care.


Subject(s)
Cleft Lip , Cleft Palate , Health Services Accessibility , Humans , Cleft Lip/therapy , Cleft Palate/therapy , Global Health
11.
Clin Oral Investig ; 28(7): 357, 2024 Jun 06.
Article in English | MEDLINE | ID: mdl-38839609

ABSTRACT

OBJECTIVES: Risk factors for non-syndromic orofacial cleft (NSOFCs) include genetic profile and environmental exposure to medication and illnesses during pregnancy. We assessed the association between the COVID-19 vaccination and the incidence of NSOFC across five Middle Eastern countries. MATERIALS AND METHODS: This multi-country, hospital-based, case-control study included infants with NSOFCs whose first 3 intrauterine months coincided with the time when pregnant women were allowed to receive COVID-19 vaccination in the countries participating in the study. Newborns with NSOFCs were examined for cleft type and their parents were interviewed for maternal exposures and COVID-19 vaccination. Controls were newborns matched to cases in gender and setting. RESULTS: The study recruited 977 (348 children with NSOFCs and 629 controls). Maternal use of nicotine (Adjusted Odds Ratio (AOR): 2.437; P = 0.044) and family history of NSOFC (AOR: 11.059; P < 0.001) increased significantly the AOR of having a child with NSOFC. On the other hand, COVID-19 vaccine administration to pregnant mothers have significantly decreased the AOR of having a child with NSOFC (AOR: 0.337; P = 0.006). CONCLUSION: This study suggests that COVID-19 vaccination is not related to NSOFC and might protect against having a child affected with such a congenital anomaly. CLINICAL RELEVANCE: The finding of this study is important for healthcare providers for considering COVID-19 vaccination for pregnant woman. Clear communication and education about the potential risks and benefits would be crucial for informed decision-making. The study's results would directly impact pregnant individuals, as they would need accurate information to make informed decisions about their health and the health of their infants.


Subject(s)
COVID-19 Vaccines , Cleft Lip , Cleft Palate , Humans , Case-Control Studies , Female , Male , Cleft Lip/epidemiology , Pregnancy , Risk Factors , Infant, Newborn , Middle East , COVID-19/prevention & control , COVID-19/epidemiology , Incidence , SARS-CoV-2 , Adult
12.
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
13.
BMC Oral Health ; 24(1): 665, 2024 Jun 07.
Article in English | MEDLINE | ID: mdl-38849772

ABSTRACT

BACKGROUND: Individuals born with cleft lip and/or palate who receive corrective surgery regularly have abnormal growth in the midface region such that they exhibit premaxillary hypoplasia. However, there are also genetic contributions to craniofacial morphology in the midface region, so although these individuals appear to have Class III skeletal discrepancy, their molar relationship may be Class I. Past genome-wide association studies (GWASs) on skeletal Class II and III malocclusion suggested that multiple genetic markers contribute to these phenotypes via a multifactorial inheritance model, but research has yet to examine the genetic markers associated with dental Class I malocclusion. Thus, our goal was to conduct a family based GWAS to identify genes across the genome that are associated with Class I malocclusion, as defined by molar relations, in humans with and without clefts. METHODS: Our cohort consisted of 739 individuals from 47 Filipino families originally recruited in 2006 to investigate the genetic basis of orofacial clefts. All individuals supplied blood samples for DNA extraction and genotyping, and a 5,766 single nucleotide polymorphism (SNP) custom panel was used for the analyses. We performed a transmission disequilibrium test for participants with and without clefts to identify genetic contributors potentially involved with Class I malocclusion. RESULTS: In the total cohort, 13 SNPs had associations that reached the genomic control threshold (p < 0.005), while five SNPs were associated with Class I in the cohort of participants without clefts, including four associations that were identified in the total cohort. The associations for the SNPs ABCA4 rs952499, SOX1-OT rs726455, and RORA rs877228 are of particular interest, as past research found associations between these genes and various craniofacial phenotypes, including cleft lip and/or palate. CONCLUSIONS: These findings support the multifactorial inheritance model for dental Class I malocclusion and suggest a common genetic basis for different aspects of craniofacial development.


Subject(s)
Cleft Lip , Cleft Palate , Genome-Wide Association Study , Polymorphism, Single Nucleotide , Humans , Cleft Lip/genetics , Cleft Palate/genetics , Female , Male , Malocclusion, Angle Class I/genetics , Cohort Studies , Linkage Disequilibrium/genetics , Child , Genotype , Adolescent , Genetic Markers , Adult , Phenotype , Multifactorial Inheritance/genetics , Young Adult
14.
Sci Rep ; 14(1): 14279, 2024 06 20.
Article in English | MEDLINE | ID: mdl-38902479

ABSTRACT

Non-syndromic orofacial clefts (NSOFCs) are common birth defects with a complex etiology. While over 60 common risk loci have been identified, they explain only a small proportion of the heritability for NSOFCs. Rare variants have been implicated in the missing heritability. Thus, our study aimed to identify genes enriched with nonsynonymous rare coding variants associated with NSOFCs. Our sample included 814 non-syndromic cleft lip with or without palate (NSCL/P), 205 non-syndromic cleft palate only (NSCPO), and 2150 unrelated control children from Nigeria, Ghana, and Ethiopia. We conducted a gene-based analysis separately for each phenotype using three rare-variants collapsing models: (1) protein-altering (PA), (2) missense variants only (MO); and (3) loss of function variants only (LOFO). Subsequently, we utilized relevant transcriptomics data to evaluate associated gene expression and examined their mutation constraint using the gnomeAD database. In total, 13 genes showed suggestive associations (p = E-04). Among them, eight genes (ABCB1, ALKBH8, CENPF, CSAD, EXPH5, PDZD8, SLC16A9, and TTC28) were consistently expressed in relevant mouse and human craniofacial tissues during the formation of the face, and three genes (ABCB1, TTC28, and PDZD8) showed statistically significant mutation constraint. These findings underscore the role of rare variants in identifying candidate genes for NSOFCs.


Subject(s)
Cleft Lip , Cleft Palate , Humans , Cleft Palate/genetics , Cleft Lip/genetics , Female , Ghana , Male , Mice , Genetic Predisposition to Disease , Animals , Nigeria , Ethiopia , Black People/genetics , Child
15.
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
16.
Beijing Da Xue Xue Bao Yi Xue Ban ; 56(3): 384-389, 2024 Jun 18.
Article in Chinese | MEDLINE | ID: mdl-38864121

ABSTRACT

OBJECTIVE: To explore the association between polymorphisms of transforming growth factor-ß (TGF-ß) signaling pathway and non-syndromic cleft lip with or without cleft palate (NSCL/P) among Asian populations, while considering gene-gene interaction and gene-environment interaction. METHODS: A total of 1 038 Asian NSCL/P case-parent trios were ascertained from an international consortium, which conducted a genome-wide association study using a case-parent trio design to investigate the genes affec-ting risk to NSCL/P. After stringent quality control measures, 343 single nucleotide polymorphism (SNP) spanning across 10 pivotal genes in the TGF-ß signaling pathway were selected from the original genome-wide association study(GWAS) dataset for further analysis. The transmission disequilibrium test (TDT) was used to test for SNP effects. The conditional Logistic regression models were used to test for gene-gene interaction and gene-environment interaction. Environmental factors collected for the study included smoking during pregnancy, passive smoking during pregnancy, alcohol intake during pregnancy, and vitamin use during pregnancy. Due to the low rates of exposure to smoking during pregnancy and alcohol consumption during pregnancy (<3%), only the interaction between maternal smoking during pregnancy and multivitamin supplementation during pregnancy was analyzed. The threshold for statistical significance was rigorously set at P =1.46×10-4, applying Bonferroni correction to account for multiple testing. RESULTS: A total of 23 SNPs in 4 genes yielded nominal association with NSCL/P (P<0.05), but none of these associations was statistically significant after Bonferroni' s multiple test correction. However, there were 6 pairs of SNPs rs4939874 (SMAD2) and rs1864615 (TGFBR2), rs2796813 (TGFB2) and rs2132298 (TGFBR2), rs4147358 (SMAD3) and rs1346907 (TGFBR2), rs4939874 (SMAD2) and rs1019855 (TGFBR2), rs4939874 (SMAD2) and rs12490466 (TGFBR2), rs2009112 (TGFB2) and rs4075748 (TGFBR2) showed statistically significant SNP-SNP interaction (P<1.46×10-4). In contrast, the analysis of gene-environment interactions did not yield any significant results after being corrected by multiple testing. CONCLUSION: The comprehensive evaluation of SNP associations and interactions within the TGF-ß signaling pathway did not yield any direct associations with NSCL/P risk in Asian populations. However, the significant gene-gene interactions identified suggest that the genetic architecture influencing NSCL/P risk may involve interactions between genes within the TGF-ß signaling pathway. These findings underscore the necessity for further investigations to unravel these results and further explore the underlying biological mechanisms.


Subject(s)
Cleft Lip , Cleft Palate , Gene-Environment Interaction , Genome-Wide Association Study , Polymorphism, Single Nucleotide , Signal Transduction , Transforming Growth Factor beta , Humans , Cleft Palate/genetics , Cleft Lip/genetics , Signal Transduction/genetics , Transforming Growth Factor beta/genetics , Transforming Growth Factor beta/metabolism , Female , Asian People/genetics , Pregnancy , Male , Genetic Predisposition to Disease , Smad3 Protein/genetics , Risk Factors , Smad2 Protein/genetics , Smad2 Protein/metabolism , Epistasis, Genetic , Tobacco Smoke Pollution/adverse effects , Alcohol Drinking/genetics
17.
PLoS One ; 19(6): e0304630, 2024.
Article in English | MEDLINE | ID: mdl-38870107

ABSTRACT

BACKGROUND: Children with cleft palate, with or without cleft lip (CP±L), exhibit language delays on average compared to children without clefts. Interventions to address these disparities are scarce. In this multi-center study, Book Sharing for Toddlers with Clefts (BOOST), we will test a remote, parent-focused intervention to promote language development in children with CP±L. OBJECTIVES: The study will test two primary hypotheses. First, toddlers randomized to BOOST will exhibit better language outcomes than children receiving standard-of-care (SOC). Second, we hypothesize that the BOOST program's effect on language outcomes is mediated by the frequency and quality of parent-child reading interactions. METHODS: The study is a randomized-controlled trial comparing the BOOST group to a SOC comparison group. We will enroll N = 320 English and/or Spanish-speaking children ages 24-32 months with isolated CP±L (n = 160 per group). Both groups will receive children's books, and parents will record and upload videos of themselves reading the books with their children using a smartphone app developed for the study. Parents will also complete surveys asking whether they read to their children on five randomly selected days each week. In addition, the BOOST group will participate in 3 remote dialogic book-sharing intervention sessions via Zoom. We will code book-sharing videos to assess parents' target skill usage and children's expressive language. End-of-study assessments will include measures of child language outcomes (e.g., clinician-administered measures, parent reports, and naturalistic child language samples). RESULTS: Enrollment began in April 2024 and will continue through approximately April 2028. CONCLUSION: The BOOST study will address a critical gap in the literature on interventions to improve language in children with CP±L. The results will inform the care for toddlers with oral clefts and have potential applications for other populations.


Subject(s)
Cleft Palate , Language Development , Humans , Child, Preschool , Male , Female , Cleft Lip , Books , Reading , Parents , Parent-Child Relations
18.
J Plast Reconstr Aesthet Surg ; 94: 98-102, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38776628

ABSTRACT

BACKGROUND: Cleft lip and palate (CLCP) surgeries necessitate precise airway management, especially in pediatric cases with anatomical variations. The Covid-19 pandemic posed unprecedented challenges to anesthesiology practices that required adaptations to ensure patient safety and minimize viral transmission. Videolaryngoscopy (VL) emerged as a valuable tool in airway management during the pandemic, offering improved intubation success rates and reduced aerosol generation risks. METHODS: This retrospective study compared anesthesiology practices in CLCP surgeries before (2015-2019) and during the Covid-19 (2019-2022) pandemic at a tertiary care center. Patient demographics, anesthesia techniques, intubation difficulty, airway management, and intraoperative and postoperative follow-up were analyzed from anesthesia records. RESULTS: This study included 1282 cases. Demographics were similar between periods. During the pandemic, there was a significant decrease in the number of patients under one year old (p < 0.001) and a higher prevalence of micrognathia and comorbidities (p = 0.001 and p = 0.038, respectively). Difficult intubation and intraoperative complication rates decreased during the pandemic, but they were not statistically significant. VL usage during the pandemic contributed to improved extubating success (p < 0.001). CONCLUSIONS: VL usage and improved patient outcomes were observed during the pandemic, potentially due to proactive measures and infection control protocols. Decision-making processes for extubation and intensive care unit stay became crucial during the pandemic. Understanding the role of VL and its adaptations during the Covid-19 pandemic is vital for optimizing perioperative care in CLCP surgeries and other procedures requiring airway management. The findings highlight the resilience of healthcare systems and the importance of evidence-based practices under challenging circumstances.


Subject(s)
COVID-19 , Cleft Lip , Cleft Palate , Laryngoscopy , Humans , COVID-19/prevention & control , COVID-19/epidemiology , Laryngoscopy/methods , Retrospective Studies , Male , Female , Cleft Palate/surgery , Cleft Lip/surgery , Infant , Child, Preschool , Intubation, Intratracheal/methods , Airway Management/methods , Child , SARS-CoV-2 , Video-Assisted Surgery/methods
19.
J Plast Reconstr Aesthet Surg ; 94: 169-177, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38805848

ABSTRACT

BACKGROUND: Orofacial clefts (OFC) are the most common congenital malformation of the craniofacial skeleton. Attempts have been made to correlate the components of maternal diet as triggers for the development or prevention of OFC. OBJECTIVE: To analyze nutritional status as a predictive factor for the development of cleft lip and palate in an Amazonian population. METHODS: A total of 152 mothers within 3 months of delivery were interviewed for comparison: 51 mothers of children with nonsyndromic cleft lip and palate (CLP) (study group) and 101 mothers of children without OFC (control group). A food frequency questionnaire was used to assess maternal nutrition and to analyze the influence of macro- and micronutrients on the possible predisposition or protection for CLP. RESULTS: The study group showed higher percentage of lipid intake than did the control group (p = 0.01). Among the participants with no family history of OFC, the study group had a higher percentage of lipid intake (p = 0.002) and lower vegetable intake (p = 0.037). Maternal micronutrient intake among the participants with a positive family history was lower in the study group for vitamins B2 (p = 0.03), B5 (p = 0.036), E (p = 0.03), and folate (p = 0.022). CONCLUSIONS: Nutritional analysis indicated that higher maternal lipid intake increased the likelihood of having offsprings with nonsyndromic CLP. Moreover, families with a history of OFC and low maternal folate intake showed heightened risk of nonsyndromic CLP in their offsprings.


Subject(s)
Cleft Lip , Cleft Palate , Nutritional Status , Humans , Cleft Palate/epidemiology , Cleft Palate/etiology , Cleft Lip/epidemiology , Cleft Lip/etiology , Female , Case-Control Studies , Risk Factors , Adult , Brazil/epidemiology , Male , Diet/adverse effects , Diet/statistics & numerical data , Pregnancy
SELECTION OF CITATIONS
SEARCH DETAIL
...