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Clinical Oral Investigations Dec 2023Skull morphology and growth patterns are essential for orthodontic treatment, impacting clinical decision making. We aimed to determine the association of different...
OBJECTIVES
Skull morphology and growth patterns are essential for orthodontic treatment, impacting clinical decision making. We aimed to determine the association of different cephalometric skeletal configurations on midface parameters as measured in 3D CT datasets.
MATERIALS AND METHODS
After sample size calculation, a total of 240 fully dentulous patients between 20 and 79 years of age (mean age: 42 ± 15), who had received a CT of the skull within the scope of trauma diagnosis or intracranial bleeding, were retrospectively selected. On the basis of cephalometric analysis, using MPR reconstructions, patients were subdivided into three different vertical skull configurations (brachyfacial, mesofacial, dolichofacial) and the respective skeletal Class I, II, and III relationships. Anatomic parameters were measured using a three-dimensional post-processing console: the thickness of the maxillary and palatine bones as well as the alveolar crest, maxillary body and sutural length, width and height of the hard palate, maxillary facial wall thickness, and masseter muscle thickness and length.
RESULTS
Individuals with brachyfacial configurations had a significantly increased palatal and alveolar ridge thicknesses compared to those with dolichofacial- or mesofacial configurations. Brachyfacial configurations presented a significantly increased length and thickness of the masseter muscle (4.599 cm; 1.526 cm) than mesofacial (4.431 cm; 1.466 cm) and dolichofacial configurations (4.405 cm; 1.397 cm) (p < 0.001). Individuals with a skeletal Class III had a significantly shorter palatal length (5.313 cm) than those with Class I (5.406 cm) and Class II (5.404 cm) (p < 0.01). Sutural length was also significantly shorter in Class III (p < 0.05).
CONCLUSIONS
Skeletal configurations have an impact on parameters of the bony skull. Also, measurable adaptations of the muscular phenotype could result.
CLINICAL RELEVANCE
The association between viscerocranial morphology and midface anatomy might be beneficial for tailoring orthodontic appliances to individual anatomy and planning cortically anchored orthodontic appliances.
Topics: Adult; Humans; Middle Aged; Retrospective Studies; Face; Cephalometry; Maxilla; Palate, Hard
PubMed: 38157063
DOI: 10.1007/s00784-023-05472-7 -
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 -
Muscle & Nerve Feb 2024We have encountered patients with myasthenia gravis (MG) who exhibited palatal prolapse (PP) during nasal expiration in the supine position while awake. This may be an...
INTRODUCTION/AIMS
We have encountered patients with myasthenia gravis (MG) who exhibited palatal prolapse (PP) during nasal expiration in the supine position while awake. This may be an overlooked cause of dyspnea in MG patients. This study aimed to examine and describe the characteristics of MG patients with PP.
METHODS
We reviewed the medical records of 183 consecutive patients who were diagnosed with MG in our hospital from 2012 to 2021. Thirty-two patients underwent laryngoscopy because of bulbar symptoms. Eight of these patients (25%) exhibited PP on laryngoscopy. Clinical features of these eight patients were retrospectively characterized.
RESULTS
Median age of the eight patients with PP was 70 years. Six were men. Median body mass index was 21.6 kg/m . All patients exhibited PP in the supine position but not the sitting position. Although no patient had abnormal findings on spirometry nor chest computed tomography, six reported dyspnea or difficulty with nasal expiration only in the supine position. PP improved in all four patients who underwent edrophonium testing. All eight patients eventually improved after immunotherapy.
DISCUSSION
PP during nasal expiration may be a cause of dyspnea in MG patients, along with respiratory muscle impairment, lung disease, and vocal cord paralysis. Laryngoscopy in the supine position is required to confirm.
Topics: Aged; Female; Humans; Male; Dyspnea; Edrophonium; Myasthenia Gravis; Respiratory Insufficiency; Retrospective Studies; Vocal Cord Paralysis
PubMed: 38018268
DOI: 10.1002/mus.28009 -
Journal of Clinical Medicine Oct 2023OSA is a common problem in children and adolescents. Angle class II malocclusion, a tendency toward the vertical type of growth, causes a decrease in the volume of the...
BACKGROUND
OSA is a common problem in children and adolescents. Angle class II malocclusion, a tendency toward the vertical type of growth, causes a decrease in the volume of the oral air space, increasing the risk of OSAS. The aim of this study was to evaluate the relationship between cephalometric and OSA parameters, to develop collaborative approaches between orthodontists and somnologists in the treatment of adolescents with OSA.
METHODS
We analyzed data from 41 adolescents with OSA. Their mean age was 15.8 ± 1.08 years. Orthodontic and polysomnographic examinations of patients were conducted. Statistical analysis was performed in SPSS 19.0.0.
RESULTS
Most often in patients with distal occlusion, a violation of the harmony in the development of the dental system was observed. The sagittal incisive fissure, characteristic of a distal occlusion, was absent due to the palatal inclination of the upper incisors in 25 (60.98%) patients. The SNB was 79.4 ± 3.1°, indicating a distal position of the mandible relative to the anterior cranial base. The SNA exceeded the normal value, which is one of the prerequisites for mandibular retrognathia. The ANB angle was 4.3 ± 1.9°. Tonsillar hypertrophy affected 6 patients, 21 had adenoid hypertrophy, and 3 had both of them. Movements of the masticatory muscles during sleep were recorded in 22.0% of patients.
CONCLUSION
To improve the quality of diagnosis and treatment of OSA, a multidisciplinary approach is needed that will correct the processes of child growth and development.
PubMed: 37959316
DOI: 10.3390/jcm12216851 -
Archives of Oral Biology Jan 2024Chewing, swallowing, and respiration are synchronized oropharyngeal functions. This study aimed to analyze the dynamics and coordination during natural chewing and...
OBJECTIVE
Chewing, swallowing, and respiration are synchronized oropharyngeal functions. This study aimed to analyze the dynamics and coordination during natural chewing and swallowing in relation to respiratory phases.
DESIGN
Eight oropharyngeal muscles in minipigs were recorded using electromyography, X-ray fluoroscopy, and nasopharyngeal dynamics. Chewing cycles and swallowing episodes were analyzed for timing and activity amplitude along respiratory cycles. Digastric and middle pharyngeal constrictor were used as zero-points for timing analysis in chewing cycles and swallowing episodes, respectively. The beginning of these cycles and episodes were used as the zero-point for timing analysis in respiration during feeding.
RESULTS
The timing of jaw closing (57.8%) was longer than opening (42.2%) during chewing. Muscle activity occurred 20% later than digastric onsets and 15% earlier than jaw closing phase. Duration of muscle activity was shorter in ipsilateral than contralateral sides except for palatal muscles. Pharyngeal, palatal, and hyoid muscles showed longer durations than tongue muscles in jaw opening (p < 0.05). Palatal and hyoid muscles showed 2-phased activity in chewing while hyoid muscles showed higher amplitude in chewing and swallowing than other muscles. About 80% of the chewing cycles and swallowing episodes occurred in expiration. Nasopharyngeal airflow velocity increased from jaw opening to swallowing while airflow pressure decreased.
CONCLUSION
These findings indicate key activity of palatal and pharyngeal muscles mostly in chewing. The respiratory cycle changes in chewing and swallowing simultaneously with the activation of the tongue, palatal, and pharyngeal muscles. These findings will be useful for further understanding the mechanisms in swallowing and breathing disorders.
Topics: Animals; Swine; Mastication; Deglutition; Swine, Miniature; Tongue; Pharyngeal Muscles; Electromyography; Respiration
PubMed: 37948985
DOI: 10.1016/j.archoralbio.2023.105845 -
American Journal of Otolaryngology 2024Limited palatal muscle resection (LPMR) is a modified palatal surgical technique to correct retropalatal obstruction without complications. This study aims to determine...
OBJECTIVE
Limited palatal muscle resection (LPMR) is a modified palatal surgical technique to correct retropalatal obstruction without complications. This study aims to determine the associated factors affecting the success and cure rate of LPMR in patients with obstructive sleep apnea (OSA), thus guiding patient selection and improving surgical outcome.
METHODS
Thirty-five OSA patients underwent LPMR were enrolled. All patients received routine physical examination, preoperative drug-induced sleep endoscopy (DISE), and polysomnography (PSG). Clinical, polysomnographic, cephalometric variables, and DISE findings were evaluated. These measurements were compared between the surgical success and failure group based on the results of preoperative and postoperative PSG. Furthermore, we compared the cured and non-cured groups in the surgical success group.
RESULTS
Among 35 patients, the overall success rate was 57 % with a cure rate of 31.4 %. Patients with Friedman stage II had a significantly higher success rate (p = 0.032). According to DISE results, tongue base obstruction affected the surgical outcome (p < 0.001). The success rate was 100 % in the no tongue base obstruction during DISE, 72.2 % in the partial obstruction, and 9.1 % in the total obstruction. Tonsil size is also helpful in predicting surgical success rate (p = 0.041). Furthermore, patients with mild AHI were more likely to be surgical cures. when compared with patients with severe AHI (p = 0.044).
CONCLUSION
Patients with larger tonsil size and no tongue base obstruction during DISE may have a higher chance of surgical success with LPMR. The lower AHI may be predictors of surgical cure after LPMR.
Topics: Humans; Palatal Muscles; Sleep Apnea, Obstructive; Palate; Endoscopy; Treatment Outcome; Sleep
PubMed: 37944346
DOI: 10.1016/j.amjoto.2023.104110 -
Plastic and Reconstructive Surgery Nov 2023The post-palatoplasty velopharyngeal function needs to be evaluated through long-term follow-up, but such reports are limited in the literature and there has been no...
BACKGROUND
The post-palatoplasty velopharyngeal function needs to be evaluated through long-term follow-up, but such reports are limited in the literature and there has been no consensus as to which surgical technique yields optimal velopharyngeal function with minimum complication rate. This study aimed to evaluate the long-term outcome of the modified Furlow palatoplasty using small double-opposing Z-plasty (small-DOZ).
METHODS
A retrospective review of consecutive patients who received palatoplasty performed by the senior author between January 2000 and March 2014 was conducted. Non-syndromic patients who underwent palatoplasty before the age of 18 months and followed-up until at least 9 years of age were included. Comparisons between the small-DOZ and two-flap methods for soft palate repair were made.
RESULTS
A total of 196 small-DOZ and 167 two-flap palatoplasty patients were eligible in the study. Among the small-DOZ palatoplasty patients, 1 patient (0.5%) developed oronasal fistula, and 18 patients (9.2%) received velopharyngeal insufficiency (VPI) surgery (10 patients at preschool age and 8 at nine years of age). Compared with the small-DOZ palatoplasty, the oronasal fistula rate, VPI surgery rate, and the need for myringotomy tube insertion were significantly higher in the two-flap group (p =0.01, <0.01, <0.01, respectively). Patients who developed oronasal fistula had significantly higher likelihood of having velopharyngeal insufficiency (p < 0.01).
CONCLUSION
The small-DOZ provided successful palatal repair with low rates of oronasal fistula and VPI in the long-term. Wound closure under minimal tension facilitated to avoid oronasal fistula. Reconstruction of the functional muscle sling enabled to achieve normal velopharyngeal function with favorable speech outcome and middle ear function.
PubMed: 37943678
DOI: 10.1097/PRS.0000000000011197 -
American Journal of Speech-language... Jan 2024Craniofacial microsomia (CFM) is a complex congenital condition primarily affecting the ear, mandible, facial nerve and muscles, and tongue. Individuals with CFM are at... (Review)
Review
INTRODUCTION
Craniofacial microsomia (CFM) is a complex congenital condition primarily affecting the ear, mandible, facial nerve and muscles, and tongue. Individuals with CFM are at increased risk of hearing loss, obstructive sleep apnea, and feeding/swallowing difficulties. The purpose of this scoping review was to summarize evidence pertaining to speech production in CFM.
METHOD
All articles reporting any characteristic of speech production in CFM were included and screened by two independent reviewers by title, abstract, and full text. Data charting captured details related to study population and design, CFM diagnostic criteria, speech outcome measurement, and key findings. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews checklist guided reporting of results. Our protocol was registered on the Open Science Framework (https://osf.io/npr94/) and published elsewhere.
RESULTS
Forty-five articles were included in the detailed review. Most articles originated from the United States, were published in the past decade, and utilized case report/series study design. A speech-language pathologist authored 29%. The prevalence of velopharyngeal insufficiency ranged from 19% to 55% among studies. Oral distortion of alveolar and palatal fricatives and affricates primarily characterized articulation errors. Studies identified increased disordered speech and lower intelligibility in adolescents with CFM compared to unaffected peers. Evidence pertaining to phonatory and respiratory speech findings is limited.
CONCLUSIONS
Evidence supports that individuals with CFM are at increased risk of both velopharyngeal and articulatory speech differences. Additional information is needed to develop speech screening guidelines for children with CFM. Heterogeneity in study design and outcome measurement precludes comparisons across studies.
SUPPLEMENTAL MATERIAL
https://doi.org/10.23641/asha.24424555.
Topics: Child; Adolescent; Humans; United States; Goldenhar Syndrome; Speech; Speech Disorders; Communication Disorders; Phenotype
PubMed: 37931079
DOI: 10.1044/2023_AJSLP-23-00152 -
European Journal of Translational... Oct 2023Choking (or foreign body airway obstruction) is a widespread phenomenon with serious consequences of morbidity and mortality. Choking (often also called suffocation) can...
Choking (or foreign body airway obstruction) is a widespread phenomenon with serious consequences of morbidity and mortality. Choking (often also called suffocation) can be caused by food or inedible objects and leads to various degrees of asphyxiation or lack of oxygen in the blood stream. The incidence is very high in both young children and adults, especially seniors. However, since not all choking episodes end up in the emergency room or become fatalities, they often escape statistics. Although episodes of choking from non-edible bodies are infrequent, they affect mostly young children. Three of the most common risks for choking in general are neurological disorders, dysphagia and dental issues (few or no teeth, unstable or unsuitable prosthesis or orthodontic appliances). The purpose of this study was to evaluate the risk factors of choking and ways to reduce/avoid this event. We reported data on a series of 138 patients admitted to the emergency department following a choking event, at a hospital in Rome, Italy. The age group of the analyzed population ranged from 1 to 88 years, with the most represented age group of these between 40 and 59, with a similar distribution between males and females. The types of foods on which people choked reflected the seasonal, traditional and local foods: 67% of patients reported choking on fish bones followed by meat bones (9%) and artichokes (3%). Three relevant non-food choking elements reported were: orthodontic items, toothpicks and pins (one occurrence each). We also reported on two clinical cases of patients choking on meat and a chicken bone. In conclusion, choking awareness and prevention are essential for implementing potential life-saving precautions. Prevention is the first tool to reduce the occurrence of this event, therefore it is necessary to analyze the risk factors and educate the population to eliminate them. Proper chewing and oral manipulation are paramount functions in preventing choking, along with meal-time supervision if little children and elderly. Then, it behooves the healthcare professionals to disseminate knowledge.
PubMed: 37905785
DOI: 10.4081/ejtm.2023.11471 -
Plastic and Reconstructive Surgery Oct 2023Velopharyngeal dysfunction (VPD) is the incomplete separation of the nasal and oral cavities during speech sound production that can persist following primary...
BACKGROUND
Velopharyngeal dysfunction (VPD) is the incomplete separation of the nasal and oral cavities during speech sound production that can persist following primary palatoplasty. Surgical technique used in management of VPD (palatal re-repair versus pharyngeal flap or sphincter pharyngoplasty) is often dictated by the preoperative velar closing ratio and closure pattern. Recently, buccal flaps have increased in popularity in management of VPD. Here, the authors investigate the effectiveness of buccal myomucosal flaps in the treatment of VPD.
METHODS
A retrospective review was performed of all patients undergoing secondary palatoplasty with buccal flaps at a single center between 2016 and 2021. Preoperative and postoperative speech outcomes were compared. Speech assessments included perceptual examinations, graded on a four-point scale of hypernasality, and speech videofluoroscopy, from which the velar closing ratio was obtained.
RESULTS
A total of 25 patients underwent buccal myomucosal flap procedures for VPD at a median of 7.1 years after primary palatoplasty. Patients had significantly increased velar closing postoperatively (95% versus 50%; P < 0.001) and improved speech scores ( P < 0.001). Three patients (12%) had continued hypernasality postoperatively. There were no occurrences of obstructive sleep apnea.
CONCLUSIONS
Treatment of VPD with buccal myomucosal flaps leads to improved speech outcomes without the risk of obstructive sleep apnea. Traditionally, palatal re-repair techniques have been used for smaller preoperative velopharyngeal gaps; however, the addition of buccal flaps allows for anatomical velar muscle correction for patients with a larger preoperative velopharyngeal gap.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Therapeutic, IV.
PubMed: 37768860
DOI: 10.1097/PRS.0000000000010443