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International Journal of Molecular... Feb 2023Although the aetiology of non-syndromic orofacial clefts (nsOFCs) is usually multifactorial, syndromic OFCs (syOFCs) are often caused by single mutations in known genes....
Although the aetiology of non-syndromic orofacial clefts (nsOFCs) is usually multifactorial, syndromic OFCs (syOFCs) are often caused by single mutations in known genes. Some syndromes, e.g., Van der Woude syndrome (VWS1; VWS2) and X-linked cleft palate with or without ankyloglossia (CPX), show only minor clinical signs in addition to OFC and are sometimes difficult to differentiate from nsOFCs. We recruited 34 Slovenian multi-case families with apparent nsOFCs (isolated OFCs or OFCs with minor additional facial signs). First, we examined , , and by Sanger or whole exome sequencing to identify VWS and CPX families. Next, we examined 72 additional nsOFC genes in the remaining families. Variant validation and co-segregation analysis were performed for each identified variant using Sanger sequencing, real-time quantitative PCR and microarray-based comparative genomic hybridization. We identified six disease-causing variants (three novel) in , , and in 21% of families with apparent nsOFCs, suggesting that our sequencing approach is useful for distinguishing syOFCs from nsOFCs. The novel variants, a frameshift variant in exon 7 of , a splice-altering variant in , and a deletion of the coding exons of , indicate VWS1, VWS2, and CPX, respectively. We also identified five rare variants in nsOFC genes in families without VWS or CPX, but they could not be conclusively linked to nsOFC.
Topics: Humans; Cleft Lip; Cleft Palate; Comparative Genomic Hybridization; DNA-Binding Proteins; Interferon Regulatory Factors; Mutation; Pedigree; Transcription Factors
PubMed: 36901693
DOI: 10.3390/ijms24054262 -
JPMA. the Journal of the Pakistan... Feb 2023Lasers have been utilised in the field of dentistry for over 40 years, but their use has been limited in the field of orthodontics. The advent of lasers with... (Review)
Review
Lasers have been utilised in the field of dentistry for over 40 years, but their use has been limited in the field of orthodontics. The advent of lasers with accompanying computer interfaces has made them significantly user-friendly, adding to their appeal in the orthodontic profession. Knowledge regarding the laser device's capabilities and limitations is essential to optimise patient care and to make a satisfactory investment return. For the effective and successful integration of lasers in orthodontic practice, adequate training is required, limited not only to the orthodontist but the dental assistants and auxiliaries as well. Orthodontists may safely and readily execute gingivectomy, exposure of teeth, frenectomy, circumferential supracrestal fiberotomy, ankyloglossia release and uvulopalatoplasty. The current narrative review was planned to introduce the benefits and general principles of soft tissue lasers in the field of orthodontics and recent surgical research comparing different laser-assisted surgeries against conventional scalpel surgeries.
Topics: Humans; Lasers; Dental Care; Knowledge
PubMed: 36800723
DOI: 10.47391/JPMA.6454 -
Cureus Dec 2022The benefits and challenges of successful breastfeeding for both mother and child have been well-established in the literature. While ankyloglossia, or tongue tie, alone...
BACKGROUND
The benefits and challenges of successful breastfeeding for both mother and child have been well-established in the literature. While ankyloglossia, or tongue tie, alone or in combination with upper lip tie has been the focus of several previous studies, very few have directly addressed isolated symptomatic upper lip tie and the role of surgical correction for breastfeeding difficulties.
MATERIALS AND METHODS
Seven infants with isolated upper lip tie and breastfeeding difficulty were taken to the operating room for labial frenotomy. These infants were assessed at their follow-up visits for their degree of weight gain since their procedure. Their mothers were surveyed regarding their experiences with breastfeeding since the frenotomy was performed.
RESULTS
In this article, we present seven infants with isolated upper lip tie and breastfeeding difficulty who were treated with labial frenotomy. Subsequently, these infants demonstrated improved weight gain, and all mothers reported increased ease of breastfeeding.
CONCLUSION
These findings implicate lip tie as an underrecognized cause of breastfeeding difficulty and suggest that labial frenotomy is an effective treatment in these patients. Larger-scale randomized controlled studies are necessary to further evaluate this topic.
PubMed: 36686132
DOI: 10.7759/cureus.32755 -
Children (Basel, Switzerland) Jan 2023The lingual frenulum is a submucosal component significantly involved in the mobility of the tongue. In the case of short lingual frenulum, different surgical approaches...
The lingual frenulum is a submucosal component significantly involved in the mobility of the tongue. In the case of short lingual frenulum, different surgical approaches have been proposed. Atmospheric plasma is a thermal technique of vaporization or sublimation of the superficial tissues, without going deep, and the resulting fine carbonized layer avoids bleeding. The aim of the present investigation was to evaluate the effectiveness of atmospheric plasma (voltaic arc dermabrasion) for the frenectomy of a short lingual frenulum. A total of 30 patients with an age range between 6−11 years old and a class III/IV Kotlow’s ankyloglossia classification were included in the study. The Kotlow’s free-tongue, maximal interincisal mouth opening (MIO, mm) and interincisal mouth opening with tongue tip to maxillary incisive papillae at roof of mouth (MOTTIP, mm) were calculated at the baseline, immediately postoperatively (T0), at one week (T1), one month (T2) and two months (T3). A significant increase of Kotlow’s measurements, MOTTIP and MIO were detected when comparing the baseline and the T0 (p < 0.05). No significant difference was detected between the T0, T1 and T2 (p > 0.05). The atmospheric plasma demonstrated a very minimal invasive approach for frenectomy, without important or fibrotic complications and with very low recurrence rates.
PubMed: 36670655
DOI: 10.3390/children10010105 -
Acta Otorhinolaryngologica Italica :... Dec 2022To evaluate outcomes of the surgical and rehabilitative procedures devoted to release the tongue-tie in non-infants when implementing the most commonly used... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To evaluate outcomes of the surgical and rehabilitative procedures devoted to release the tongue-tie in non-infants when implementing the most commonly used quantitative/qualitative structured tools for tongue and frenulum assessment.
METHODS
A scoping review and meta-analysis were conducted following the guidelines of the Preferred Reporting Items for Systematic Review and Meta-Analysis extension for scoping reviews.
RESULTS
The systematic search retrieved 603 (Pubmed), 893 (Scopus), and 739 (ISI Web of Science) articles from January 2011 to December 2021. A total of 50 articles were retrieved for full-text review of which 7 were selected and included based on inclusion criteria. The majority of treatment options have been found to significantly improve the anatomical limitation of the tongue with clear benefits on descending functionality.
CONCLUSIONS
The review highlights an overall improvement in terms of clinical and functional outcomes when using validated tongue assessment tools both before and after frenulum release. This highlights the need for their rigorous implementation in research and clinical practice.
Topics: Female; Humans; Lingual Frenum; Breast Feeding; Ankyloglossia; Tongue
PubMed: 36654515
DOI: 10.14639/0392-100X-N2211 -
The Journal of Clinical Pediatric... Nov 2022To determine the prevalence of ankyloglossia in newborns with breastfeeding problems and to assess the effectiveness of frenotomy in the maintenance of exclusive...
AIM
To determine the prevalence of ankyloglossia in newborns with breastfeeding problems and to assess the effectiveness of frenotomy in the maintenance of exclusive breastfeeding at 1 month, 3 months and 6 months in newborns at an Andorran Hospital.
STUDY DESIGN
A descriptive, cross-sectional, population-based, retrospective study of newborns over a 5-year period (2016-2020) was performed. Nine medical history variables (presence or absence of ankyloglossia and type of frenulum, surgical intervention or not, first degree hereditary component, gender, Rh and blood group, type of breastfeeding, causes of cessation and duration of breastfeeding) related to perinatal and feeding history were collected confidentially and anonymously. The Coryllos classification was used for the diagnosis of ankyloglossia. Descriptive analysis of the data, Chi-square test and prevalence ratios were calculated.
RESULTS
A total of 2333 newborns were included in the study (50.02% males and 49.98% females). The prevalence of ankyloglossia was 7.84% (n = 183). Of the infants examined, 136 underwent lingual frenotomy. The number of infants who maintained exclusive breastfeeding, both surgically and non-surgically treated, was no statistically significant differences at 1 month ( = 0.65), 3 months ( = 0.61) and 6 months ( = 0.49).
CONCLUSIONS
Lingual frenotomy was only performed on patients with ankyloglossia associated with ineffective suction that causes BF difficulties. The realization or not of frenotomy was not a determining factor for the maintenance of breastfeeding at 1 month, 3 months and 6 months. On the contrary, it was a determining factor for the prolongation of mixed feeding. Ankyloglossia related to breastfeeding difficulties should be treated by a multidisciplinary team.
Topics: Infant; Male; Female; Pregnancy; Infant, Newborn; Humans; Ankyloglossia; Breast Feeding; Incidence; Retrospective Studies; Cross-Sectional Studies; Lingual Frenum
PubMed: 36624902
DOI: 10.22514/jocpd.2022.023 -
Journal of Clinical Medicine Dec 2022Ankyloglossia (tongue-tie) is a condition of the oral cavity in which an abnormally short lingual frenulum affects the tongue's mobility. Literature on the correlation...
Ankyloglossia (tongue-tie) is a condition of the oral cavity in which an abnormally short lingual frenulum affects the tongue's mobility. Literature on the correlation between ankyloglossia and obstructive sleep apnea (OSA) is scarce. The main objective of this study was to report our preliminary experience in adult OSA patients before and after ankyloglossia treatment, using drug-induced sleep endoscopy (DISE) to evaluate the upper airway modifications resulting after treatment, and to present a systematic review of the impact of ankyloglossia and its treatment on OSA adults. We found that, after frenotomy, regarding the DISE findings, and according to the VOTE classification, two of the three patients showed an improvement in tongue level, from 2A-P (complete anteroposterior collapse) to 1ap (partial anteroposterior collapse). The third patient showed no changes in his UA after frenotomy, neither worsening nor showing improvement. Thus, the results of this study suggest that frenotomy in OSA patients with ankyloglossia could reduce tongue collapse, probably by allowing the tongue to take into the physiological position in the oral cavity. These patients should undergo speech therapy and oropharyngeal exercises prior to any surgical procedure, in order to avoid glossoptosis and to improve the quality of life and sleep apnea results.
PubMed: 36615001
DOI: 10.3390/jcm12010201 -
BMJ Open Dec 2022Ankyloglossia is a situation where the tongue tip cannot go beyond the mandibular incisor because the frenulum linguae is short. It could affect children's health by...
INTRODUCTION
Ankyloglossia is a situation where the tongue tip cannot go beyond the mandibular incisor because the frenulum linguae is short. It could affect children's health by interfering with their ability to talk, breast feeding and dental development. The most effective measure to control ankyloglossia is the surgical method. However, which surgical procedure is the best one is still controversial. Thus, this protocol aims to assess the effectiveness of different surgical interventions in children with ankyloglossia.
METHODS AND ANALYSIS
PubMed, EMBASE, Cochrane Library, Web of Science and OVID will be searched for relevant information from inception to 31 May 2022. Observational studies in English that investigate the association between surgical methods and ankyloglossia will be included in this protocol. This protocol follows the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Protocols. The Critical Appraisal Checklist for Analytical Cross-Sectional Studies and the Newcastle-Ottawa Quality Assessment Scale for longitudinal studies will be used to assess the included studies. The improvement of breast feeding and nipple pain will be the primary outcome. STATA V.15.1 will do the statistical analysis in the meta-analysis. Subgroup and meta-regression will be carried out based on the characteristics of included studies.
ETHICS AND DISSEMINATION
This systematic review and meta-analysis will summarise relevant information on the effects of different surgical treatments on patients with ankyloglossia. The results will be disseminated through peer-reviewed publications. The data included in this study will be extracted from the published original studies. Thus, ethical approval and informed consent will not be required.
PROSPERO REGISTRATION NUMBER
CRD42022323350.
Topics: Female; Child; Humans; Ankyloglossia; Cross-Sectional Studies; Systematic Reviews as Topic; Meta-Analysis as Topic; Breast Feeding; Research Design
PubMed: 36600360
DOI: 10.1136/bmjopen-2022-065653 -
International Journal of Surgery Case... Jan 2023The recessive dystrophic epidermolysis bullosa is a severe form of hereditary epidermolysis bullosa characterized by deformities of the skin, blisters and erosions on...
INTRODUCTION AND IMPORTANCE
The recessive dystrophic epidermolysis bullosa is a severe form of hereditary epidermolysis bullosa characterized by deformities of the skin, blisters and erosions on the mucous membranes. Oral manifestations are frequent and extensive vary from small discrete vesicles to large bullae, associated with microstomia, ankyloglossia and a depapilled tongue. The purpose of this case report is to describe oral health status of patient with recessive-dystrophic epidermolysis bullosa, and the measures that dentists should adopt with the purpose of provide an effective dental treatment.
CASE PRESENTATION
We present a clinical case of a patient with recessive-dystrophic epidermolysis bullosa who underwent a bone regularization and whose follow-up was carried out until healing.
CLINICAL DISCUSSION
The management of patients with RDEB in oral surgery requires the adoption of an atraumatic technique and certain precautions to limit the formation of bullae and promote mucosal healing.
CONCLUSION
We can conclude that oral management of patients with recessive dystrophic epidermolysis bullosa presents a challenge for the oral surgeon and the management is generally multidisciplinary and relies essentially on the adoption of a preventive and atraumatic approach.
PubMed: 36580730
DOI: 10.1016/j.ijscr.2022.107848 -
Children (Basel, Switzerland) Nov 2022Ankyloglossia is a condition of limited tongue mobility caused by a short lingual frenulum. The diagnosis and treatment of ankyloglossia are still controversial. The...
Ankyloglossia is a condition of limited tongue mobility caused by a short lingual frenulum. The diagnosis and treatment of ankyloglossia are still controversial. The main clinical problems encountered during breastfeeding are difficulty in sucking and its clinical reflections. This study aims to evaluate the infant population born with ankyloglossia and to determine the results of frenotomy. We conducted an observational, cross-sectional study among infants born in a tertiary hospital. We included all infants born between 1 January and 30 June 2022. The neonatal follow-up protocol for ankyloglossia was determined before the defined dates, and data were recorded during the screening period. The recorded data were retrospectively collected from the files. Within six months, 705 infants were born. Due to additional problems and other conditions that prevent breastfeeding, evaluable data of 207 (29.3%) infants could not be provided. Of the remaining 498 infants, 234 (33.2%) had ankyloglossia. While none of the infants without ankyloglossia had a breastfeeding problem after appropriate training, 28.6% of the ankyloglossia group had a breastfeeding problem (p < 0.001). The need for frenotomy differed significantly between Coryllos groups (p < 0.001). Breastfeeding was unsuccessful before frenotomy in 12 Coryllos type-1 patients, and all had difficulty in sucking. Frenotomy was performed within the three-month follow-up period in all patients with complaints of inability to firmly grasp the breast, nipple slipping from the mouth, and nipple biting during the first 24 h. In terms of breastfeeding problems, regardless of the anatomical typology, frenotomy can be performed safely in early life with successful results. If deficiencies or difficulties in breastfeeding are noticed in ankyloglossia patients even at the first control, frenotomy should be recommended in clinical conditions.
PubMed: 36553304
DOI: 10.3390/children9121860