Commentary on: Cross-linked Hyaluronic Acid for Cleft Lip and Palate Aesthetic Correction: A Preliminary Report.
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ABSTRACT:
SUBMITTER: Derderian CA
PROVIDER: S-EPMC9724762 | biostudies-literature | 2022
REPOSITORIES: biostudies-literature
Publications
Commentary on: Cross-linked Hyaluronic Acid for Cleft Lip and Palate Aesthetic Correction: A Preliminary Report.
Aesthetic surgery journal. Open forum 20220818
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Project description: Not available
| S-EPMC11548905 | biostudies-literature
Project description:Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with these birth defects and their family members: from subclinical phenotypes to associated syndromic features that is mirrored by the many genes that contribute to the etiology of these disorders. Identification of these genes and loci has been the result of decades of research using multiple genetic approaches. Significant progress has been made recently due to advances in sequencing and genotyping technologies, primarily through the use of whole exome sequencing and genome-wide association studies. Future progress will hinge on identifying functional variants, investigation of pathway and other interactions, and inclusion of phenotypic and ethnic diversity in studies.
| S-EPMC3925974 | biostudies-literature
Project description:Submucous cleft palate, presenting as varying degrees of palatal bony defect, can be difficult to detect in its early stage. The connection between submucous cleft palate and cleft lip has been noticed by clinicians but are rarely reported in literature. To investigate the correlation between the degree of deformity of palatal bony defect and that of cleft lip. Thirty-four patients with unilateral (n = 23) or bilateral (n = 11) cleft lip presenting with submucous cleft palate were included. Patients were divided into 3 groups according to the degree of malformation of cleft lip (microform, incomplete, and complete). The length and width of palatal bony defect was then measured from the palatal computer tomography. In patients with unilateral cleft lip, the proportions of microform cleft lip, incomplete cleft lip, and complete cleft lip were 17.4%, 60.9%, and 21.7%, respectively. In patients with bilateral cleft lip, there were 3 cases with microform and 1 case with incomplete cleft lip on both sides. No correlation was found between the length or relative width of palatal bony defect with the side (P length = 1.000; P relative width = 0.262) or the severity (P length = 0.605; P relative width = 0.254) of cleft lip. The form of cleft lip presenting with submucous cleft palate varies, and there was no correlation with the length or relative width of palatal bony defect. Advanced imaging techniques for children with cleft lip may assist the early diagnosis of submucous cleft palate.
| S-EPMC9518965 | biostudies-literature
Project description:Truncating mutations were found in the PHF8 gene (encoding the PHD finger protein 8) in two unrelated families with X linked mental retardation (XLMR) associated with cleft lip/palate (MIM 300263). Expression studies showed that this gene is ubiquitously transcribed, with strong expression of the mouse orthologue Phf8 in embryonic and adult brain structures. The coded PHF8 protein harbours two functional domains, a PHD finger and a JmjC (Jumonji-like C terminus) domain, implicating it in transcriptional regulation and chromatin remodelling. The association of XLMR and cleft lip/palate in these patients with mutations in PHF8 suggests an important function of PHF8 in midline formation and in the development of cognitive abilities, and links this gene to XLMR associated with cleft lip/palate. Further studies will explore the specific mechanisms whereby PHF8 alterations lead to mental retardation and midline defects.
| S-EPMC1735927 | biostudies-literature
Project description:(1) Objectives: To investigate the difference in prevalence of depression between patients with CL/P (cleft lip and/or palate) and analyze the possible demographic factors that affect the prevalence of depression in Chinese patients with CL/P. (2) Methods: Patients with CL (cleft lip only), CP (cleft palate), and CLP (cleft lip and palate) were included in the study group. Non-CL/P individuals were included in the control group. The Patient Health Questionnaire (PHQ-9) was used to screen the depression of Chinese patients with CL/P. The different proportions of different depression groups between the CL/P group and the control groups were tested by the Fisher-Freeman-Halton test and Bonferroni correction. The scores between the study groups and the control group were analyzed by one-way ANOVA. In the study groups, demographic and clinical data of the patients, including diagnosis (CL, CP, CLP), gender, age, the only child or not, and region were collected to analyze whether they were the possible factors affecting depression through one-way independent-samples t-test. Pearson correlation analysis was used to analyze the correlation between monthly family income and depression. (3) Results: 111 and 80 valid questionnaires were collected from the study and control groups, respectively. The mean PHQ-9 score of the study group (5.459 ± 6.082) was relatively higher than the control group (4.362 ± 3.384), and the difference in proportions of depression groups was statistically significant between the CL/P group and the control group (p = 0.01), especially in the mild depression (p < 0.05) and moderately severe depression groups (p < 0.05). Statistically significant differences in PHQ-9 scores were observed between the individuals of different genders (p = 0.036) and ages (p = 0.007) in patients with CL/P, the individuals who were the only child or not in patients with CL (p = 0.007), and the individuals of different ages in patients with CP (p = 0.016). (4) Conclusions: The prevalence of depression in Chinese patients with CL/P was different compared with those without CL/P, while gender, age, the only child or not, and region played significant roles in affecting depression psychology.
| S-EPMC9959099 | biostudies-literature
Project description:Nonsyndromic orofacial clefts are a common complex birth defect caused by genetic and environmental factors and/or their interactions. A previous genome-wide linkage scan discovered a novel locus for cleft lip with or without cleft palate (CL/P) at 9q22-q33. To identify the etiologic gene, we undertook an iterative and complementary fine mapping strategy using family-based CL/P samples from Colombia, USA and the Philippines. Candidate genes within 9q22-q33 were sequenced, revealing 32 new variants. Concurrently, 397 SNPs spanning the 9q22-q33 2-LOD-unit interval were tested for association. Significant SNP and haplotype association signals (P = 1.45E - 08) narrowed the interval to a 200 kb region containing: FOXE1, C9ORF156 and HEMGN. Association results were replicated in CL/P families of European descent and when all populations were combined the two most associated SNPs, rs3758249 (P = 5.01E - 13) and rs4460498 (P = 6.51E - 12), were located inside a 70 kb high linkage disequilibrium block containing FOXE1. Association signals for Caucasians and Asians clustered 5' and 3' of FOXE1, respectively. Isolated cleft palate (CP) was also associated, indicating that FOXE1 plays a role in two phenotypes thought to be genetically distinct. Foxe1 expression was found in the epithelium undergoing fusion between the medial nasal and maxillary processes. Mutation screens of FOXE1 identified two family-specific missense mutations at highly conserved amino acids. These data indicate that FOXE1 is a major gene for CL/P and provides new insights for improved counseling and genetic interaction studies.
| S-EPMC2778374 | biostudies-literature
Project description:The decision for lip revision surgery in patients with repaired cleft lip/palate is based on surgeons' subjective evaluation of lip disability. An objective evaluation would be highly beneficial for the assessment of surgical outcomes. In this study, the effects of lip revision on circumoral movements were objectively quantified. The hypothesis was that lip revision increases scarring and impairment. The study was a non-randomized clinical trial that included patients with cleft lip who had revision, patients with cleft lip who did not, and non-cleft control individuals. Three-dimensional facial movements were measured. Revision patients were measured before and after surgery. Other individuals were measured at similar intervals. Regression models were fit to summary measurements, and changes were modeled. Patients with repaired cleft lip/palate had fewer mean movements than control individuals. Lip revision did not worsen mean movements; however, individual patients' movements varied from 'improvement' to 'no change' to 'worse' relative to those of control individuals.
| S-EPMC2967701 | biostudies-literature
Project description: Not available
| S-EPMC9252325 | biostudies-literature
Project description:ObjectiveWe conducted a comprehensive review of state laws and regulations that require private health insurance plans to cover the services needed by children born with cleft lip and/or cleft palate (CL/P). The goal is to better understand how states are reducing the barriers children with CL/P face when seeking recommended health care services.DesignWe identified all state laws and regulations mandating insurance coverage of services for children with CL/P by private insurance carriers from 1999 through 2017 using Westlaw legal database. We categorized laws and regulations into ten services: facial surgery (facial, corrective, reconstructive), oral surgery, orthodontics, dental care, habilitation/rehabilitation/speech therapy, prosthetic treatment, audiology, nutrition counseling, genetic testing, and psychological counseling. We also captured broad mandates indicating coverage for all necessary treatments.ResultsThere was a trend toward increased coverage of services for CL/P over time. In 1999, 27 states and Washington, DC did not have relevant laws or regulations. By 2017, there were 19 states without laws or regulations mandating services. The most common mandated service was facial surgery followed by habilitation/rehabilitation/speech therapy, orthodontics, dental care, and oral surgery. Nutrition, audiology, genetic testing and psychological counseling were rarely included in mandated services.ConclusionsStates vary widely in their requirements for coverage of services needed by children with CL/P in private health insurance plans. There has been an increase in mandates over the past two decades to cover services, although significant variation continues to exist across states.
| S-EPMC7357273 | biostudies-literature
Project description:Plasma microRNAs (miRNAs) have recently emerged as a new class of regulatory molecules that influence many biological functions. However, the expression profile of plasma microRNAs in nonsyndromic cleft palate (NSCP) or nonsyndromic cleft lip with cleft palate (NSCLP) remains poorly investigated. In this study, we used Agilent human miRNA microarray chips to monitor miRNA levels in three NSCP plasma samples (mixed as the CP group), three NSCLP plasma samples (mixed as the CLP group) and three normal plasma samples (mixed as the Control group). Six selected plasma miRNAs were validated in samples from an additional 16 CP, 33 CLP and 8 healthy children using qRT-PCR. Using Venn diagrams, distinct and overlapping dysregulated miRNAs were identified. Their respective target genes were further assessed using gene ontology and pathway analysis. The results show that distinct or overlapping biological processes and signalling pathways were involved in CP and CLP. Our study showed that the common key gene targets reflected functional relationships to the Notch, Wnt, phosphatidylinositol and Hedgehog signalling pathways. Further studies should examine the mechanism of the potential target genes, which may provide new avenues for future clinical prevention and therapy.
| S-EPMC5349912 | biostudies-literature