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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 -
Medicine Dec 2023Mutations in the gene encoding type VI collagen cause Bethlem myopathy (MIM 158810) and Ullrich congenital muscular dystrophy (MIM 254090); 2 diseases previously...
RATIONALE
Mutations in the gene encoding type VI collagen cause Bethlem myopathy (MIM 158810) and Ullrich congenital muscular dystrophy (MIM 254090); 2 diseases previously recognized as completely independent, and have been increasingly recognized. However, collagen-related myopathy caused by intron variation in the COL6 gene is rarely reported in China. Ullrich congenital muscular dystrophy is an autosomal recessive disorder that leads to severe muscle weakness with early onset. Thus, children may never walk independently, with proximal joint contractures and significant hyperelastic distal joints, and have early respiratory failure. Therefore, timely diagnosis and treatment are important. We report a spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a pediatric patient.
PATIENT CONCERNS
A boy aged 4 years was unable to walk independently, could sit alone for a short time, and his motor development was delayed and had regressed after 1 year of age. He had a high palatal arch and a through palm with localized transverse lines running laterally from the palm. Electromyography showed an impaired neurogenic source, and whole-exon gene sequencing revealed a spontaneous heterozygous mutation in the COL6A2 gene (c.955-2A>G), which was determined to be a pathogenic mutation according to the American Guidelines of the College of Medical Genetics.
DIAGNOSES
This child has a delayed motor development, high osprey arch and a through palm with localized transverse lines running laterally from the palm, and regression of motor development after the age of 1 year. Whole exon examination showed spontaneous mutation of the COL6A2 gene; thus, the child was diagnosed with UCMD type 1.
INTERVENTIONS
At present, there is no special treatment for this disease, and treatment is mainly symptomatic and supportive. The child underwent home massage, rehabilitation training, oral folic acid tablets, vitamins and coenzyme Q10.
OUTCOMES
During the subsequent follow-up period, the patient can now sit alone for a short period of time.
LESSONS
We report a case of spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a pediatric patient, expanding the phenotypic spectrum of the disease and enriching the human gene pool.
Topics: Male; Humans; Child; Muscular Dystrophies; Muscular Diseases; Contracture; Mutation; Collagen Type VI
PubMed: 38065855
DOI: 10.1097/MD.0000000000036398 -
Indian Journal of Dental Research :... 2023Myofibroma (MF) is a benign spindle cell neoplasm rarely found in the oral cavity. It is common in males than females (2:1) and mostly seen to develop before 2 years of...
Myofibroma (MF) is a benign spindle cell neoplasm rarely found in the oral cavity. It is common in males than females (2:1) and mostly seen to develop before 2 years of age with few cases reported in adults. This article reports a rare case of solitary MF of the hard palate in an 8-year-old female child; highlighting the clinical features, histopathology, differential diagnosis while emphasizing the importance of immunohistochemistry in establishing an accurate diagnosis and management of the same. The objective should be to differentiate benign versus malignant spindle cell lesions of smooth muscle, nerve tissue, fibrocytic, and histiocytic origin. Rapid growth of the lesion often raises suspicion of malignancy and may lead to misdiagnosis and inappropriate management.
Topics: Adult; Female; Male; Humans; Child; Myofibroma; Skin Neoplasms; Mouth; Diagnosis, Differential; Patients
PubMed: 38197361
DOI: 10.4103/ijdr.IJDR_405_19 -
Pakistan Journal of Medical Sciences 2021A 26-year-old male was referred to the Department of Oral and Maxillofacial Surgery of a tertiary care hospital in Lahore with chief complaint of painless swelling on...
A 26-year-old male was referred to the Department of Oral and Maxillofacial Surgery of a tertiary care hospital in Lahore with chief complaint of painless swelling on the right palate of 40 days duration. Clinical differential diagnosis included squamous cell carcinoma, Ewing sarcoma, fibrosarcoma, neuroblastoma and rhabdomyosarcoma. Computed tomography scan revealed hypodense mass with necrotic changes. Histological examination of the excised tumor revealed malignant neoplasm arranged in fascicles and bundles comprising of spindle cells with pleomorphic, hyperchromatic nuclei and increased atypical mitosis. Immunohistochemical analysis showed negative staining with Cytokeratin, S100, CD34, Stat6, h-Caldesmon and EMA while the tumour cells were positive for desmin, myogenin, smooth muscle actin, CD-99 and MyoD1 thus confirming the diagnosis of spindle cell rhabdomyosarcoma.
PubMed: 34104191
DOI: 10.12669/pjms.37.3.3305 -
PloS One 2019The soft palate is a key component of the oropharyngeal complex that is critical for swallowing, breathing, hearing and speech. However, complete functional restoration...
The soft palate is a key component of the oropharyngeal complex that is critical for swallowing, breathing, hearing and speech. However, complete functional restoration in patients with cleft soft palate remains a challenging task. New insights into the molecular signaling network governing the development of soft palate will help to overcome these clinical challenges. In this study, we investigated whether key signaling pathways required for hard palate development are also involved in soft palate development in mice. We described the dynamic expression patterns of signaling molecules from well-known pathways, such as Wnt, Hh, and Fgf, during the development of the soft palate. We found that Wnt signaling is active throughout the development of soft palate myogenic sites, predominantly in cells of cranial neural crest (CNC) origin neighboring the myogenic cells, suggesting that Wnt signaling may play a significant role in CNC-myogenic cell-cell communication during myogenic differentiation in the soft palate. Hh signaling is abundantly active in early palatal epithelium, some myogenic cells, and the CNC-derived cells adjacent to the myogenic cells. Hh signaling gradually diminishes during the later stages of soft palate development, indicating its involvement mainly in early embryonic soft palate development. Fgf signaling is expressed most prominently in CNC-derived cells in the myogenic sites and persists until later stages of embryonic soft palate development. Collectively, our results highlight a network of Wnt, Hh, and Fgf signaling that may be involved in the development of the soft palate, particularly soft palate myogenesis. These findings provide a foundation for future studies on the functional significance of these signaling pathways individually and collectively in regulating soft palate development.
Topics: Animals; Cell Communication; Fibroblast Growth Factors; Gene Expression Regulation, Developmental; Hedgehog Proteins; Mice; Muscle Development; Neural Crest; Palate, Soft; Signal Transduction; Wnt Proteins
PubMed: 31613912
DOI: 10.1371/journal.pone.0223879 -
The Cleft Palate-craniofacial Journal :... Sep 2019To investigate the musculus uvulae morphology in vivo in adults with normal velopharyngeal anatomy and to examine sex and race effects on the muscle morphology. We also...
PURPOSE
To investigate the musculus uvulae morphology in vivo in adults with normal velopharyngeal anatomy and to examine sex and race effects on the muscle morphology. We also sought to provide a preliminary comparison of musculus uvulae morphology in adults with normal velopharyngeal anatomy to adults with repaired cleft palate.
METHODS
Three-dimensional magnetic resonance imaging data and Amira 5.5 Visualization Modeling software were used to evaluate the musculus uvulae in 70 participants without cleft palate and 6 participants with cleft palate. Muscle length, thickness, width, and volume were compared among participant groups.
RESULTS
Analysis of covariance analysis did not yield statistically significant differences in musculus uvulae length, thickness, width, or volume by race or sex among participants without cleft palate when the effect of body size was accounted for. Two-sample test revealed that the musculus uvulae in participants with repaired cleft palate is significantly shorter ( = .008, 13.65 mm vs 16.07 mm) and has less volume ( = .002, 51.08 mm vs 97.62 mm) than participants without cleft palate.
CONCLUSION
In adults with normal velopharyngeal anatomy, the musculus uvulae is a cylindrical oblong-shaped muscle lying on the nasal surface of the soft palate, with its greatest bulk located just nasal to the levator veli palatini muscle sling. In participants with repaired cleft palate, the musculus uvulae is substantially reduced in volume. This diminished muscle bulk located just at the point where the palate contacts the posterior pharyngeal wall may contribute to velopharyngeal insufficiency in children with repaired cleft palate.
Topics: Adult; Child; Cleft Palate; Female; Humans; Magnetic Resonance Imaging; Male; Palatal Muscles; Palate, Soft; Uvula; Velopharyngeal Insufficiency
PubMed: 30786757
DOI: 10.1177/1055665619828226 -
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 -
PloS One 2019Exercise induced intermittent dorsal displacement of the soft palate (DDSP) is a common cause of airway obstruction and poor performance in racehorses. The definite...
Investigation into pathophysiology of naturally occurring palatal instability and intermittent dorsal displacement of the soft palate (DDSP) in racehorses: Thyro-hyoid muscles fatigue during exercise.
Exercise induced intermittent dorsal displacement of the soft palate (DDSP) is a common cause of airway obstruction and poor performance in racehorses. The definite etiology is still unclear, but through an experimental model, a role in the development of this condition was identified in the dysfunction of the thyro-hyoid muscles. The present study aimed to elucidate the nature of this dysfunction by investigating the spontaneous response to exercise of the thyro-hyoid muscles in racehorses with naturally occurring DDSP. Intramuscular electrodes were implanted in the thyro-hyoid muscles of nine racehorses, and connected to a telemetric unit for electromyographic monitoring implanted subcutaneously. The horses were recruited based on upper airway function evaluated through wireless endoscopy during exercise. Five horses, with normal function, were used as control; four horses were diagnosed as DDSP-affected horses based on repeated episodes of intermittent dorsal displacement of the soft palate. The electromyographic activity of the thyro-hyoid muscles recorded during incremental exercise tests on a high-speed treadmill was analyzed to measure the mean electrical activity and the median frequency of the power spectrum, thereafter subjected to wavelet decomposition. The affected horses had palatal instability with displacement on repeated exams prior to surgical implantation. Although palatal instability persisted after surgery, only two of these horses displaced the palate after instrumentation. The electromyographic traces from this group of four horses showed, at highest exercise intensity, a decrease in mean electrical activity and median power frequency, with progressive decrease in the contribution of the high frequency wavelets, consistent with development of thyro-hyoid muscle fatigue. The results of this study identified fatigue as the main factor leading to exercise induced palatal instability and DDSP in a group of racehorses. Further studies are required to evaluate the fiber type composition and metabolic characteristics of the thyro-hyoid muscles that could predispose to fatigue.
Topics: Animals; Electromyography; Female; Horse Diseases; Horses; Male; Muscle Fatigue; Palate, Soft; Physical Conditioning, Animal; Signal Processing, Computer-Assisted; Thyroid Gland
PubMed: 31652282
DOI: 10.1371/journal.pone.0224524 -
International Archives of... Jan 2020Obstructive sleep apnea syndrome (OSAS) is a multifactorial disease characterized by episodes of partial or complete collapse during sleep of different regions of...
Obstructive sleep apnea syndrome (OSAS) is a multifactorial disease characterized by episodes of partial or complete collapse during sleep of different regions of the upper airway. Surgery for OSAS evolved with the introduction of different techniques, considering new surgical concept of reconstruction of the upper airway. To retrospectively evaluate the effectiveness of a new approach aimed at reducing pharyngeal collapse by combining two surgical techniques: lateral and expansion pharyngoplasty. We reviewed the medical records of 38 patients with OSAS undergoing lateral/expansion pharyngoplasty from January 2012 to December 2016. The following data were collected: patient age, gender, and pre- and postoperative body mass index (BMI), Epworth sleepiness scale (ESS) scores, snoring visual analogue scale (VAS) scores, and polysomnography (PSG) results. The PSG results showed a significant reduction in the apnea/hypopnea index (AHI) from 22.4 ± 27.3 events/h preoperatively to 13.6 ± 17.9 events/h postoperatively ( = 0.009), with postoperative AHI reduction greater than 50% in 63.2% of the patients. There was also a significant reduction in the microarousal index (19.5 ± 22.6 vs 11.0 ± 13.4 events/h; = 0.001) and in the minimum oxygen saturation (82.6 ± 10.3 vs 86.9 ± 11.1; = 0.007). Lateral-expansion pharyngoplasty represents a new surgical strategy for the treatment of OSAS in patients with palatal collapse by combining two different techniques: lateral and expansion pharyngoplasty. The two techniques, performed as a one-stage procedure, led to improvements in excessive daytime sleepiness, snoring, and PSG respiratory parameters by acting on lateral and retropalatal collapse, producing favorable results with good applicability in otolaryngology clinical practice.
PubMed: 31892966
DOI: 10.1055/s-0039-1695026 -
The Journal of International Advanced... Dec 2020This study aimed to compare the Eustachian tube (ET) and the paratubal structures between the two sides in subjects with unilateral acquired cholesteatoma and a healthy...
OBJECTIVES
This study aimed to compare the Eustachian tube (ET) and the paratubal structures between the two sides in subjects with unilateral acquired cholesteatoma and a healthy contralateral ear to determine if there are anatomical differences.
MATERIALS AND METHODS
Of the 217 patients with cholesteatoma evaluated, 36 patients with unilateral cholesteatoma were included in the study. All of the patients had a healthy contralateral ear with no history of surgery. Nine different paratubal parameters were measured through contrast-enhanced magnetic resonance imaging (MRI). The measurements of the ear with cholesteatoma were compared with those of the healthy ear.
RESULTS
The bimucosal thickness of the ET lumen, the mucosal thickness of the pharyngeal orifice, the lengths and diameters of the tensor veli palatini muscle and the levator veli palatini muscle, the diameter of the pharyngeal orifice of the ET, the diameter of the lateral pharyngeal recess mucosal thickness, and the diameter between the posterior border of the inferior nasal concha and the pharyngeal orifice of the ET were measured in MRI scans. No statistically significant difference was observed between the healthy ear and the ear with cholesteatoma for any of the parameters measured (p>0.05).
CONCLUSION
We did not observe any anatomical differences in the measurements of the ET and the paratubal structures on MRI scans. Although ET dysfunction is considered to be the leading etiologic factor in acquired cholesteatoma, the ET and the paratubal structures may not exhibit an anatomic difference between the ear with cholesteatoma and the healthy contralateral ear.
Topics: Cholesteatoma; Eustachian Tube; Humans; Magnetic Resonance Imaging; Otitis Media with Effusion; Palatal Muscles
PubMed: 33136019
DOI: 10.5152/iao.2020.7508