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Bioengineering (Basel, Switzerland) Aug 2022The study aims to investigate the modifications in the temporalis and the masseter activity in adult patients before and after SARPE (Surgically Assisted Rapid Palatal...
The study aims to investigate the modifications in the temporalis and the masseter activity in adult patients before and after SARPE (Surgically Assisted Rapid Palatal Expansion) by measuring electromyographic and electrokinesographic activity. 24 adult patients with unilateral posterior crossbite on the right side were selected from the Orthodontic Department of the University of Milan. Three electromyographic and electrokinesographic surface readings were taken respectively before surgery (T0) and 8 months after surgery (T1). The electromyographic data of both right and left masseter and anterior temporalis muscles were recorded during multiple tests: standardized maximum voluntary contraction (MVC)s, after transcutaneous electrical nerve stimulation (TENS) and at rest. T0 and T1 values were compared with paired Student’s t-test (p < 0.05). Results: Significant differences were found in the activity of right masseter (p = 0.03) and right temporalis (p = 0.02) during clench, in the evaluation of right masseter at rest (p = 0.03), also the muscular activity of masseters at rest after TENS from T0 to T1 (pr = 0.04, pl = 0.04). No significant differences were found in the activity of left masseter (p = 0.41) and left temporalis (p = 0.39) during clench and MVC, in the evaluation of left masseter at rest (p = 0.57) and in the activity during MVC of right masseter (p = 0.41), left masseter (p = 0.34), right temporalis (p = 0.51) and left temporalis (p = 0.77). Results showed that the activity of the masseter and temporalis muscles increased significantly after SARPE during rest and clenching on the side where the cross-bite was treated.
PubMed: 36004886
DOI: 10.3390/bioengineering9080361 -
Journal of Otology Apr 2022Objective tinnitus is defined as a type of tinnitus perceived by both the patient and external observer. This paper presents two cases of objective tinnitus related to... (Review)
Review
Objective tinnitus is defined as a type of tinnitus perceived by both the patient and external observer. This paper presents two cases of objective tinnitus related to palatal tremor, along with a literature review. Palatal tremor is a condition characterized by soft palate involuntary contractions. Two types of palatal tremor have been described: symptomatic palatal tremor and essential palatal tremor, with different clinical manifestations. Diagnostic workup is based on medical history and physical examination, including direct oropharynx exploration and cavum visualization through nasopharyngoscopy. Brain MRI is mandatory in all cases. If a secondary origin is suspected, additional lab tests should be performed based on clinical suspicion. First-line treatment is botulinum toxin injection into the and muscles, with velopharyngeal insufficiency being its main adverse effect. Other medications have not been shown to be effective.
PubMed: 35949555
DOI: 10.1016/j.joto.2021.11.003 -
Biomimetics (Basel, Switzerland) Jun 2022The presence of posterior crossbite can trigger aesthetic and functional changes as mandibular asymmetry in individuals, contributing to asymmetrical muscle function....
BACKGROUND
The presence of posterior crossbite can trigger aesthetic and functional changes as mandibular asymmetry in individuals, contributing to asymmetrical muscle function. Mandibular asymmetry and respective condyle adaptation may be an etiological factor in temporomandibular disorder. This study aims to evaluate the effects of maxillary expansion on the position and angulation of the condyles as well as the intercondylar distance in children with cleft lip and palate.
METHODS
Twenty-five individuals with cleft lip and palate who underwent maxillary expansion were selected. Condylar changes were evaluated by cone beam computed tomography using the Pullinger and Hollender formula. To determine the statistically significant differences between the variables, the Student t-test and the Benjamini-Hochberg correction method for multiple comparisons were used.
RESULTS
No statistically significant differences between angulation and condylar position before and after maxillary expansion were found. The intercondylar distance tended to increase in growing individuals with cleft lip and palate after maxillary expansion.
CONCLUSIONS
Intercondylar distance shows a tendency to increase after expansion regardless of the cleft phenotype. No differences were found in angulation and condylar position with the changes in occlusion resulting from maxillary expansion.
PubMed: 35735589
DOI: 10.3390/biomimetics7020073 -
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 -
Dental Press Journal of Orthodontics 2022To introduce newly structured and developed orofacial myofunctional therapy (OFMFT) protocols named Bio-Exercise (BioEx), and evaluate the treatment effect of this...
OBJECTIVE
To introduce newly structured and developed orofacial myofunctional therapy (OFMFT) protocols named Bio-Exercise (BioEx), and evaluate the treatment effect of this method, using lateral cephalometric analysis on malocclusion with low tongue posture in young patients.
METHODS
A retrospective preliminary study was performed using orthodontic records from 28 patients (mean age of 8.41±1.45-year-old, 13 males, 15 females) treated with BioEx therapy using tongue elevators for 18.14±9.04 months (range: 6 to 37 months). Pretreatment (T0) and post-BioEx therapy (T1) lateral cephalograms were subsequently analyzed for tongue posture changes by linear, anteroposterior and vertical measurements. The data were analyzed by paired t-test, considering a 5% significance level.
RESULTS
The tongue length (TGL) and tongue height (TGH) increased statistically significant between T0 and T1. The decrease of the dorsum of the tongue perpendicular to the palatal plane (Td-PP value) was statistically significant. The increase of the tip of the tongue perpendicular to the pterygomaxillary vertical line (TT-PMV) was not statistically significant.
CONCLUSIONS
These preliminary cephalometric results indicate that BioEx can be an effective OFMFT modality in increasing the tonicity of the tongue muscles to establish more normalized tongue position at rest.
Topics: Cephalometry; Child; Female; Humans; Male; Malocclusion; Myofunctional Therapy; Retrospective Studies; Tongue
PubMed: 35613244
DOI: 10.1590/2177-6709.27.2.e2220367.oar -
Development (Cambridge, England) May 2022Tissue fusion frequently requires the removal of an epithelium that intervenes distinct primordia to form one continuous structure. In the mammalian secondary palate, a...
Tissue fusion frequently requires the removal of an epithelium that intervenes distinct primordia to form one continuous structure. In the mammalian secondary palate, a midline epithelial seam (MES) forms between two palatal shelves and must be removed to allow mesenchymal confluence. Abundant apoptosis and cell extrusion support their importance in MES removal. However, genetically disrupting the intrinsic apoptotic regulators BAX and BAK within the MES results in complete loss of cell death and cell extrusion, but successful removal of the MES. Novel static- and live-imaging approaches reveal that the MES is removed through streaming migration of epithelial trails and islands to reach the oral and nasal epithelial surfaces. Epithelial trail cells that express the basal epithelial marker ΔNp63 begin to express periderm markers, suggesting that migration is concomitant with differentiation. Live imaging reveals anisotropic actomyosin contractility within epithelial trails, and genetic ablation of actomyosin contractility results in dispersion of epithelial collectives and failure of normal MES migration. These findings demonstrate redundancy between cellular mechanisms of morphogenesis, and reveal a crucial and unique form of collective epithelial migration during tissue fusion.
Topics: Actomyosin; Animals; Apoptosis; Cleft Palate; Epithelial Cells; Epithelium; Mammals; Palate
PubMed: 35593401
DOI: 10.1242/dev.200181 -
Clinical Neurophysiology : Official... Apr 2022The various forms of tremor are now classified in two axes: clinical characteristics (axis 1) and etiology (axis 2). Electrophysiology is an extension of the clinical... (Review)
Review
The various forms of tremor are now classified in two axes: clinical characteristics (axis 1) and etiology (axis 2). Electrophysiology is an extension of the clinical exam. Electrophysiologic tests are diagnostic of physiologic tremor, primary orthostatic tremor, and functional tremor, but they are valuable in the clinical characterization of all forms of tremor. Electrophysiology will likely play an increasing role in axis 1 tremor classification because many features of tremor are not reliably assessed by clinical examination alone. In particular, electrophysiology may be needed to distinguish tremor from tremor mimics, assess tremor frequency, assess tremor rhythmicity or regularity, distinguish mechanical-reflex oscillation from central neurogenic oscillation, determine if tremors in different body parts, muscles, or brain regions are strongly correlated, document tremor suppression or entrainment by voluntary movements of contralateral body parts, and document the effects of voluntary movement on rest tremor. In addition, electrophysiologic brain mapping has been crucial in our understanding of tremor pathophysiology. The electrophysiologic methods of tremor analysis are reviewed in the context of physiologic tremor and pathologic tremors, with a focus on clinical characterization and pathophysiology. Electrophysiology is instrumental in elucidating tremor mechanisms, and the pathophysiology of the different forms of tremor is summarized in this review.
Topics: Brain; Brain Mapping; Essential Tremor; Humans; Tremor
PubMed: 35149267
DOI: 10.1016/j.clinph.2022.01.004 -
Medicine Feb 2022Bohring-Opitz syndrome is a severe congenital disorder associated with a de novo mutation in the additional sex combs-like 1 (ASXL1) gene, and it is characterized by...
RATIONALE
Bohring-Opitz syndrome is a severe congenital disorder associated with a de novo mutation in the additional sex combs-like 1 (ASXL1) gene, and it is characterized by symptoms that include developmental delay and musculoskeletal and neurological features.
PATIENT CONCERNS
The patient was a girl, an in vitro fertilization (IVF) baby, with delayed motor development, drooling, short stature, slow growth, low muscle tone, image diagnosis of hypoplasia of the corpus callosum, delayed tooth eruption, high palatal arch, adduction of the thumb, drooling, not chewing, excessive joint activity, and ligament relaxation.
DIAGNOSIS
Whole-exome sequencing analysis detected 1 novel disruptive frameshift mutation in ASXL1 in the proband but wild-type ASXL1 in both parents.
INTERVENTIONS
Approximately 1 year of rehabilitation training, which included exercise therapy, toy imitation operation, cognition of daily objects, daily living skills training, gesture language training, oral muscle training, and hand movement training.
OUTCOMES
After approximately 1 year of training, the patient was 3 years old and able to eat normally without drooling. She was able to grasp objects and pick them up after they fell. She was able to grasp small objects and actively played with toys. In addition, she was able to crawl on the floor (at slow speed, with poor initiative), stand with assistance, and walk with assistance; she was unstable when standing unassisted (standing unassisted for 8 seconds at most during training).
LESSON
ASXL1 c.3762delT is a novel mutation that may be caused by IVF. This finding suggests that appropriate gene mutation detection approaches may be necessary for IVF technology.
Topics: Child, Preschool; Craniosynostoses; Female; Fertilization in Vitro; Humans; Infant; Intellectual Disability; Mutation; Phenotype; Repressor Proteins; Sialorrhea
PubMed: 35119035
DOI: 10.1097/MD.0000000000028759 -
BMJ Case Reports Jan 2022
Topics: Essential Tremor; Humans; Palatal Muscles; Palate; Tremor
PubMed: 35039383
DOI: 10.1136/bcr-2021-248139