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Human Molecular Genetics Dec 2021Patients with autosomal dominant SPECC1L variants show syndromic malformations, including hypertelorism, cleft palate and omphalocele. These SPECC1L variants largely...
Patients with autosomal dominant SPECC1L variants show syndromic malformations, including hypertelorism, cleft palate and omphalocele. These SPECC1L variants largely cluster in the second coiled-coil domain (CCD2), which facilitates association with microtubules. To study SPECC1L function in mice, we first generated a null allele (Specc1lΔEx4) lacking the entire SPECC1L protein. Homozygous mutants for these truncations died perinatally without cleft palate or omphalocele. Given the clustering of human variants in CCD2, we hypothesized that targeted perturbation of CCD2 may be required. Indeed, homozygotes for in-frame deletions involving CCD2 (Specc1lΔCCD2) resulted in exencephaly, cleft palate and ventral body wall closure defects (omphalocele). Interestingly, exencephaly and cleft palate were never observed in the same embryo. Further examination revealed a narrower oral cavity in exencephalic embryos, which allowed palatal shelves to elevate and fuse despite their defect. In the cell, wild-type SPECC1L was evenly distributed throughout the cytoplasm and colocalized with both microtubules and filamentous actin. In contrast, mutant SPECC1L-ΔCCD2 protein showed abnormal perinuclear accumulation with diminished overlap with microtubules, indicating that SPECC1L used microtubule association for trafficking in the cell. The perinuclear accumulation in the mutant also resulted in abnormally increased actin and non-muscle myosin II bundles dislocated to the cell periphery. Disrupted actomyosin cytoskeletal organization in SPECC1L CCD2 mutants would affect cell alignment and coordinated movement during neural tube, palate and ventral body wall closure. Thus, we show that perturbation of CCD2 in the context of full SPECC1L protein affects tissue fusion dynamics, indicating that human SPECC1L CCD2 variants are gain-of-function.
Topics: Animals; Cleft Palate; Gain of Function Mutation; Mice; Microtubules; Palate; Phenotype; Phosphoproteins
PubMed: 34302166
DOI: 10.1093/hmg/ddab211 -
The Cleft Palate-craniofacial Journal :... Jul 2020Palate re-repair has been proposed as an effective treatment for velopharyngeal insufficiency (VPI) with a low risk of obstructive sleep apnea (OSA). The authors... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Palate re-repair has been proposed as an effective treatment for velopharyngeal insufficiency (VPI) with a low risk of obstructive sleep apnea (OSA). The authors conducted a systematic review and meta-analysis to determine the proportion of patients achieving normal speech resonance following palate re-repair for VPI, the proportion developing OSA, and the criteria for patient selection that are associated with increased effectiveness.
METHODS
PubMed, Embase, and Scopus were searched from inception through April 2018 for English language articles evaluating palate re-repair for the treatment of VPI in patients with a repaired cleft palate. Inclusion criteria included reporting of hypernasality, nasal air emission, nasometry, additional VPI surgery, and/or OSA outcomes. Meta-analysis was conducted using random effects models. Risk of bias was assessed regarding criteria for patient selection, blinding of outcome assessors, and validity of speech assessment scale.
RESULTS
Eighteen studies met inclusion criteria. The incidence of achieving no consistent hypernasality follow palate re-repair was 61% (95% confidence interval [CI]: 44%-75%). The incidence of additional surgery for persistent VPI symptoms was 21% (95% CI: 12%-33%). The incidence of OSA was 28% (95% CI: 13%-49%). Criteria for selecting patients to undergo re-repair varied, with anterior/sagittal position of palatal muscles (33%) and small velopharyngeal gap (22%) being the most common. No specific patient selection criteria led to superior speech outcomes ( = .6572).
CONCLUSIONS
Palate re-repair achieves normal speech resonance in many but not all patients with VPI. Further research is needed to identify the specific examination and imaging findings that predict successful correction of VPI with re-repair.
Topics: Cleft Palate; Humans; Palatal Muscles; Speech; Treatment Outcome; Velopharyngeal Insufficiency
PubMed: 32070129
DOI: 10.1177/1055665620902883 -
The Journal of Contemporary Dental... Nov 2020The purpose of this work is to investigate by electromyographic (EMG) surface analysis whether and how the variations in the occlusion due to the correction of the...
AIM AND OBJECTIVE
The purpose of this work is to investigate by electromyographic (EMG) surface analysis whether and how the variations in the occlusion due to the correction of the posterior crossbite using a rapid palatal expander (RPE) is accompanied by changes in the activity of the elevator muscles in the pediatric patients.
BACKGROUND
Posterior crossbite is a disgnathic jaw relationship common in patients undergoing growth. In the last 10 years, several studies demonstrated the effectiveness and reproducibility of surface EMG in the objective evaluation of temporal muscle and masseter activity and how this evidence can be an interesting aid in dental clinical practice.
CASE DESCRIPTION
The case subject BF is an 11-year-old boy with a right I class relationship and a left II class relationship treated with a rapid palatal expansion protocol with a turn of the transversal screw twice a day (0.25 mm each turn) for a week. In this case report, EMG was used to evaluate the temporal muscle and masseter activity immediately before, immediately after, and 4 months after the RPE protocol.
CONCLUSION
Four months after the treatment, a condition of well-being and neuromuscular equilibrium such as that of starting was preserved.
CLINICAL SIGNIFICANCE
Electromyography is a noninvasive exam which evaluates the masticatory muscle activity by facial application of electrodes on masseter and temporal muscles. It can be an interesting aid in orthodontic clinical practice to evaluate preservation of a good muscular balance following orthodontic and orthognathic movements.
Topics: Child; Electromyography; Humans; Male; Malocclusion; Masseter Muscle; Masticatory Muscles; Palatal Expansion Technique; Reproducibility of Results; Temporal Muscle
PubMed: 33850076
DOI: No ID Found -
American Journal of Medical Genetics.... Sep 2022Ependymoma is the third most common pediatric brain tumor. Predisposition to develop ependymomas has been reported in different hereditary diseases, but the pathogenic...
Ependymoma is the third most common pediatric brain tumor. Predisposition to develop ependymomas has been reported in different hereditary diseases, but the pathogenic variants related to the familial syndromes have rarely been detected in sporadic ependymomas. De novo variants in POLR2A, the gene encoding the largest subunit of RNA polymerase II, cause a neurodevelopmental disorder with a wide range of clinical manifestations, characterized by severe infantile-onset hypotonia, developmental delay, feeding difficulties, palatal anomalies, and facial dysmorphisms. As somatic events, POLR2A mutations represent a recurrent somatic lesion in benign meningiomas. Here we describe a case of ependymoma in a 2-year-old male with a de novo pathogenic variant in POLR2A predicted to impair proper interaction of the subunit with transcription-elongation factor TFIIS, whose function is required for back-tracking of the enzyme due to elongation blocks or nucleotide misincorporation, and expected to result in an increased error and reduced elongation rates. To date, ependymoma has never been reported in patients harboring pathogenic POLR2A variants. Further information is required to explore the possibility of a differential clinical and functional impact of the pathogenic POLR2A variants and the eventual inclusion of the POLR2A neurodevelopmental disorder among the cancer predisposition syndromes with the possible development of ependymomas.
Topics: Child; Child, Preschool; DNA-Directed RNA Polymerases; Ependymoma; Humans; Male; Muscle Hypotonia; Syndrome; Transcription Factors
PubMed: 35689525
DOI: 10.1002/ajmg.a.62869 -
Journal of Oral Biology and... 2023Dental malocclusions are deviations from normalities due to the inadequate growth and development of the dental arch which provides functional changes to the...
Dental malocclusions are deviations from normalities due to the inadequate growth and development of the dental arch which provides functional changes to the stomatognathic system. The aim of this longitudinal study was to evaluate the electromyographic activity (EMG) the masseter and temporalis muscles, strength of the orofacial tissues and occlusal force of children with anterior open bite (n = 15) and posterior crossbite (n = 20), 7 days after the removal of the orthodontic apparatus. A fixed horizontal palatal crib was used in the treatment of anterior open bite and the fixed appliances Hyrax or MacNamara was used in the treatment of posterior crossbite. EMG of the masticatory muscles was recorded using an electromyograph with wireless sensors during mandibular tasks. Habitual chewing was assessed using the integral of the linear envelope of the electromyographic signal in the masticatory cycles. The strength of the tongue and facial muscles was measured using the Iowa Oral Pressure Instrument. T-Scan was used to analyze the force of occlusal contact. Molar bite force was measured by digital dynamometer. Significant differences (p < 0.05) were found in the EMG data of the masseter and temporalis muscles in the static and dynamic mandibular tasks. There were no significant difference in strength of orofacial tissues, occlusal contact force and molar bite force 7 days after the removal of the orthodontic apparatus. The results of this study suggest that the orthodontic treatment of anterior open bite and posterior crossbite in children promoted functional alteration in the electromyographic activity of masseter and temporalis muscles.
PubMed: 37065972
DOI: 10.1016/j.jobcr.2022.12.005 -
Frontiers in Neurology 2022A 40-year-old Caucasian man presented with sudden onset of left-sided hemiparesis associated with dysphonia, dysphagia, and right-sided weakness on shoulder elevation...
A 40-year-old Caucasian man presented with sudden onset of left-sided hemiparesis associated with dysphonia, dysphagia, and right-sided weakness on shoulder elevation and head rotation. The clinical examination revealed deviation of the tongue to the right, absence of right-sided gag reflex, right-sided palatal and vocal cord paresis, and weakness of the right trapezius and sternocleidomastoid muscles; all were in addition to left-sided brachiocephalic-accentuated hemiparesis. The diagnostic examination revealed dissection of the right carotid artery with occlusion of the middle cerebral artery and infarction in the lenticular-striatal artery territory. Mechanical thrombectomy with stent angioplasty of the right internal carotid artery was performed. The paresis of the left side of the body completely regressed within a week after symptom onset, but the dysphonia, weakness of the right trapezius and sternocleidomastoid muscles, and especially dysphagia persisted and regressed slowly but gradually. The patient required percutaneous gastric tube feeding for the next 12 weeks, possibly because of involvement of subcortical white matter tracts. The constellation of symptoms and clinical findings were consistent with Collet-Sicard syndrome, an extremely rare disorder caused by direct compression of the caudal cranial nerves at the base of the skull.
PubMed: 36341084
DOI: 10.3389/fneur.2022.939236 -
Progress in Orthodontics Jun 2021Until 2010, adults underwent surgical treatment for maxillary expansion; however, with the advent of micro-implant-assisted rapid maxillary expansion (MARME), the...
BACKGROUND/OBJECTIVE
Until 2010, adults underwent surgical treatment for maxillary expansion; however, with the advent of micro-implant-assisted rapid maxillary expansion (MARME), the availability of less invasive treatment options has increased. Nevertheless, individuals with severe transverse maxillary deficiency do not benefit from this therapy. This has aroused interest in creating a new device that allows the benefit of maxillary expansion for these individuals. The aim of this study was to evaluate the efficacy of three MARME models according to tension points, force distribution, and areas of concentration in the craniofacial complex when transverse forces are applied using finite element analysis.
MATERIALS AND METHODS
Digital modeling of the three MARME models was performed. Model A comprised five components: one body screw expander and four adjustable arms with rings for mini-implant insertion. These arms have an individualized height adjustment that allows MARME positioning according to the patient's palatal anatomy, thereby preventing body screw expander collision with the lateral mucosa in severe cases of maxillary deficiency. Model B was a maxillary expander with screw rings joined to the body, and model C was similar to model B, except that model C had open rings for the insertion of the mini-implants. Through the MEF (Ansys software), the stresses, distribution, and area of concentration of the stresses were evaluated when transverse forces of 7.85 N were applied.
RESULTS
The three models maintained the following pattern: model C presented weak stress peaks with limited distribution and lower concentration area, model B obtained median stress peaks with better distribution when compared to that of model C, and model A showed better stress distribution and larger concentration area. In model A, tensions were located in the lateral lamina of the pterygoid process, which is an important site for maxillary expansion. The limitation of the present study was that it did not include the periodontal tissues and muscles in the finite element method evaluation.
CONCLUSIONS
Model A showed the best stress distribution conditions. In cases of severe atresia, model A seems to be an excellent option.
Topics: Adult; Computer Simulation; Finite Element Analysis; Humans; Imaging, Three-Dimensional; Maxilla; Palatal Expansion Technique; Stress, Mechanical
PubMed: 34152492
DOI: 10.1186/s40510-021-00357-5 -
CoDAS 2023Individuals with trisomy 21 may have muscle hypotonia of the speech articulation organs, an enlarged protruding tongue positioned on the floor of the mouth, and a lack...
Individuals with trisomy 21 may have muscle hypotonia of the speech articulation organs, an enlarged protruding tongue positioned on the floor of the mouth, and a lack of lip closure. The stimulating palatal plate is an intraoral appliance that, associated with myofunctional therapy, aims to improve these children's habitual lip and tongue posture. This study aimed to present the cases of four male children with trisomy 21, with a mean age of 6.7 and a standard deviation of 7.8 months, who used the stimulating palatal plate in association with myofunctional therapy. The children used the plate for 6 months and did exercises based on the orofacial regulation therapy, and their parents received instructions on feeding them and removing deleterious oral habits. In the first session and at the end of the treatment, each child's face was video-recorded for 5 minutes at rest, and two researchers analyzed independently their habitual tongue and lip posture. Participants who began the treatment earlier and had the most severe postural changes had greater tongue and lip posture improvement.
Topics: Humans; Child; Male; Down Syndrome; Myofunctional Therapy; Exercise; Exercise Therapy
PubMed: 37672408
DOI: 10.1590/2317-1782/20232021231pt -
Dysphagia Aug 2019Limited research in swallowing physiology has suggested that the most common existing transcutaneous electrical stimulation (TES) protocol (VitalStim) may not penetrate... (Clinical Trial)
Clinical Trial
Limited research in swallowing physiology has suggested that the most common existing transcutaneous electrical stimulation (TES) protocol (VitalStim) may not penetrate to layers of tissue to affect deep swallowing muscles. TES amplitude is the primary parameter that determines the depth of electrical current penetration (DECP). Preliminary work suggests that replacing a long-pulse duration with a short-pulse duration can increase maximum amplitude tolerance (MAT) within subjects' comfort level. Increasing MAT may indicate a higher DECP. The current study evaluates this premise in reference to the effects of varying pulse duration on lingual-palatal pressure during swallowing. Thirty healthy older adults (60-70 years of age) participated in this study. Each subject swallowed three trials of 10 mL pudding under three TES conditions: no stimulation, short-pulse duration, and long-pulse duration. TES was delivered using two pairs of surface electrodes on the submental muscles. MAT and perceived discomfort levels were identified separately for short and long-pulse TES conditions. Lingual-palatal peak pressure, pressure integral, and pressure duration were measured under each condition. Two-way repeated measures ANOVAs were conducted to identify within subject effects of TES condition and tongue bulb location. Lingual-palatal pressure and pressure integral were significantly reduced in the short-pulse duration condition. MAT was significantly higher in the short-pulse duration versus the long-pulse duration condition. Furthermore, MAT was significantly correlated with lingual-palatal pressure. Changing pulse duration had no significant impact on tongue pressure duration. Results suggest that a short-pulse duration may penetrate deeper into muscles involved in swallowing. The specific impact is reflected in a reduced upward pressure of the tongue on the palate during swallowing. This 'restrictive' effect of TES on tongue pressure may have the potential to be used during a resistive exercise paradigm for tongue elevation during swallowing.
Topics: Aged; Deglutition; Female; Humans; Male; Middle Aged; Muscles; Palate; Pressure; Tongue; Transcutaneous Electric Nerve Stimulation
PubMed: 30820657
DOI: 10.1007/s00455-019-09991-y -
Cureus Apr 2024This case report describes a dual full-arch rehabilitation focusing on a modified buccal incision for installation of four implants for full-arch rehabilitation of an...
This case report describes a dual full-arch rehabilitation focusing on a modified buccal incision for installation of four implants for full-arch rehabilitation of an edentulous maxilla. A modified buccal incision was performed in the subcrestal buccal region to promote direct access to the periosteum without incising the muscles in the region. For the installation of anterior implants, an 8.5 mm implant was locked in the cortical bone of the alveolar ridge and in the cortical bone of the floor of the pyriform cavity. The drilling point of the posterior implants was defined using the anterior implants as a visual reference, and the entry point could be visually estimated from the topography of the palatal surface of the maxilla. After bone leveling, the drilling enlargement sequence was carried out using drills that allowed the installation of long implants (18 mm). Straight mini-abutments were installed in the anterior implants and angled at 30º in the posterior implants. The flap was then perforated in the exact region where the mini-abutments were located. The buccal incision line was sutured with continuous 5-0 nylon suture. On the following day, aesthetic tests were carried out with teeth mounting. The patient presented minimal edema, and the lip motricity and smile width were completely preserved. The prosthesis was delivered five days after surgery. The suture was removed, and the prosthesis was installed while maintaining compression on the gingival tissue. The patient reported no pain during the prosthesis installation. The modified buccal flap enables implant placement for full-arch rehabilitation of an edentulous maxilla.
PubMed: 38765329
DOI: 10.7759/cureus.58453