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PloS One 2021The extent of dysfunction of the Eustachian tube (ET) is relevant in understanding the pathogenesis of secondary otological diseases such as acute or chronic otitis...
The extent of dysfunction of the Eustachian tube (ET) is relevant in understanding the pathogenesis of secondary otological diseases such as acute or chronic otitis media. The underlying mechanism of ET dysfunction remains poorly understood except for an apparent genesis such as a nasopharyngeal tumor or cleft palate. To better describe the ET, its functional anatomy, and the biomechanical valve mechanism and subsequent development of diagnostic and interventional tools, a three-dimensional model based on thin-layer histology was created from an ET in this study. Blackface sheep was chosen as a donor. The 3-D model was generated by the coherent alignment of the sections. It was then compared with the cone-beam computed tomography dataset of the complete embedded specimen taken before slicing. The model shows the topographic relation of the individual components, such as the bone and cartilage, the muscles and connective tissue, as well as the lining epithelium with the lumen. It indicates a limited spiraling rotation of the cartilaginous tube over its length and relevant positional relationships of the tensor and levator veli palatine muscles.
Topics: Animals; Cartilage; Cleft Palate; Ear Diseases; Eustachian Tube; Nasopharyngeal Neoplasms; Otitis Media; Otitis Media with Effusion; Palatal Muscles; Sheep
PubMed: 34383758
DOI: 10.1371/journal.pone.0244909 -
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 -
BMC Pediatrics Jul 2021When evaluating speech in children with cleft palate with or without cleft lip (CP/L), children with known syndromes and/or additional malformations (CP/L+) are usually...
BACKGROUND
When evaluating speech in children with cleft palate with or without cleft lip (CP/L), children with known syndromes and/or additional malformations (CP/L+) are usually excluded. The aim of this study was to present speech outcome of a consecutive series of 5-year-olds born with CP/L, and to compare speech results of children with CP/L + and children with CP/L without known syndromes and/or additional malformations (CP/L-).
METHODS
One hundred 5-year-olds (20 with CP/L+; 80 with CP/L-) participated. All children were treated with primary palatal surgery in one stage with the same procedure for muscle reconstruction. Three independent judges performed phonetic transcriptions and rated perceived velopharyngeal competence from audio recordings. Based on phonetic transcriptions, percent consonants correct (PCC) and percent non-oral errors were investigated. Group comparisons were performed.
RESULTS
In the total group, mean PCC was 88.2 and mean percent non-oral errors 1.5. The group with bilateral cleft lip and palate (BCLP) had poorer results on both measures compared to groups with other cleft types. The average results of PCC and percent non-oral errors in the CP/L + group indicated somewhat poorer speech, but no significant differences were observed. In the CP/L + group, 25 % were judged as having incompetent velopharyngeal competence, compared to 15 % in the CP/L- group.
CONCLUSIONS
The results indicated relatively good speech compared to speech of children with CP/L in previous studies. Speech was poorer in many children with more extensive clefts. No significant differences in speech outcomes were observed between CP/L + and CP/L- groups.
Topics: Child; Child, Preschool; Cleft Lip; Cleft Palate; Humans; Speech; Syndrome
PubMed: 34243736
DOI: 10.1186/s12887-021-02783-0 -
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 -
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 -
The Cleft Palate-craniofacial Journal :... May 2022The purpose of this study was to examine the surgical impact of the pedicled buccal fat pad (BFP) flap on the levator veli palatini (LVP) muscle and surrounding... (Observational Study)
Observational Study
OBJECTIVE
The purpose of this study was to examine the surgical impact of the pedicled buccal fat pad (BFP) flap on the levator veli palatini (LVP) muscle and surrounding velopharyngeal (VP) anatomy following primary palatoplasty using magnetic resonance imaging (MRI).
DESIGN
Observational, prospective.
SETTING
MRI studies were completed at 3 different facilities. All participants with BFP flap were operated on by the same surgeon.
PARTICIPANTS
Five pediatric participants with cleft palate with or without cleft lip (CP±L) who underwent primary palatoplasty with BFP flap placement. Comparison groups consisted of 10 participants: 5 with CP±L who did not receive the BFP flap and 5 healthy controls.
INTERVENTIONS
All participants underwent nonsedated MRI 2 to 5 years postoperatively.
MAIN OUTCOMES AND MEASURES
Anatomical measures of the velopharynx and LVP among the 3 participant groups.
RESULTS
Median values were significantly different among groups for velar length ( = .042), effective velar length ( = .048), effective VP ratio ( = .046), LVP length ( = .021), extravelar LVP length ( = .009), and LVP origin-origin distance ( = .030). Post hoc analysis revealed a statistically significant difference between the BFP and traditional repair groups for effective VP ratio ( = .040), extravelar LVP length ( = .033), and LVP length ( = .022).
CONCLUSIONS
This study provides preliminary support that the BFP flap creates a longer velum, with increased distance between the posterior hard palate and the LVP, and a larger effective VP ratio compared to traditional surgical techniques. Future research is needed to determine whether this procedure provides a more favorable mechanism for VP closure.
Topics: Adipose Tissue; Child; Cleft Palate; Humans; Palatal Muscles; Palate, Soft; Prospective Studies; Velopharyngeal Insufficiency
PubMed: 33973484
DOI: 10.1177/10556656211014070 -
Surgical Case Reports May 2021Angiomyolipoma is a benign mesenchymal tumor that develops commonly in the kidney and rarely in other organs. The involvement of the spleen in angiomyolipoma is...
BACKGROUND
Angiomyolipoma is a benign mesenchymal tumor that develops commonly in the kidney and rarely in other organs. The involvement of the spleen in angiomyolipoma is extremely rare, and only one such case has been reported in the English literature.
CASE PRESENTATION
A 27-year-old man presented with adenoid hyperplasia and bilateral palatal tonsillar hyperplasia. During the treatment for adenoid hyperplasia, a 15-cm tumor was detected in the spleen using abdominal ultrasonography and enhanced computed tomography. Partial resection of the spleen was successfully performed. A giant tumor of approximately 13 cm with a smooth surface was observed in the upper left quadrant of the abdomen. The tumor was confirmed to be continuous with the upper spleen, and there was no invasion of the other organs. The postoperative course was good, and the patient was discharged on the 7th postoperative day. The excised specimen was a smooth, extremely soft tumor measuring 123 × 120 × 82 mm. The cleaved surface of the tumor was reddish brown, and a distressing yellow color was observed. Pathological examination revealed a proliferation of mature adipocytes and an increase in the number of blood vessels of various sizes. Furthermore, spindle-shaped cell proliferation foci were visible between the adipocytes and the surrounding blood vessels. Profuse leakage of erythrocytes from the blood vessels, hemosiderin deposition, and small round cell infiltration were also noted. Immunostaining disclosed that the spindle-shaped cells were weakly positive for smooth muscle antibody and were identified as smooth muscle cells. The adipocytes and spindle cells were negative for HMB 45, Melan A, MDM, and CDK4. However, some parts of the cells were positive for estrogen and progesterone receptors. Besides, vascular endothelial cells were positive for CD31 and CD34 and negative for CD8. Based on these findings, the patient was diagnosed to have primary angiomyolipoma of the spleen.
CONCLUSIONS
We have reported the surgical treatment for an extremely rare case of giant splenic angiomyolipoma in a young man. Globally, this is the second report on this condition. We believe that partial splenic resection is a feasible option for the management of giant tumors.
PubMed: 33939051
DOI: 10.1186/s40792-021-01192-w -
Frontiers in Neurology 2021Myofascial pain in the masticatory region, generally referred to as headache, is a common temporomandibular disorder (TMD) characterized by the hypersensitive regions of...
Myofascial pain in the masticatory region, generally referred to as headache, is a common temporomandibular disorder (TMD) characterized by the hypersensitive regions of the contracted skeletal muscle fibers. A correct clinical treatment of myofascial pain has the potential to modify the functional activation of cerebral networks associated with pain and unconscious teeth clenching, specifically the pain network (PN) and default mode network (DMN). In this study, research is presented as a case series of five patients with myofascial pain: three were diagnosed with intra- and extra-articular disorders, and two were diagnosed with only extra-articular disorders. All five patients received gnathological therapy consisting of passive splints and biofeedback exercises for tongue-palatal vault coordination. Before and after treatment, patients underwent pain assessments (through measures of visual analog scales and muscular palpation tests), nuclear magnetic resonance of the temporomandibular joint, and functional nuclear magnetic resonance of the brain. In each patient, temporomandibular joint nuclear magnetic resonance results were similar before and after the gnathological treatment. However, the treatment resulted in a considerable reduction in pain for all patients, according to the visual analog scales and the palpation test. Furthermore, functional nuclear magnetic resonance of the brain clearly showed a homogeneous modification in cerebral networks associated with pain (i.e., PN and DMN), in all patients. In conclusion, gnathological therapy consisting of passive aligners and biofeedback exercises improved myofascial pain in all five patients. Most importantly, this study showed that all five patients had a homogeneous functional modification of pain and default mode networks. Using passive splints in combination with jaw exercises may be an effective treatment option for patients with TMD. This research could be a starting point for future investigations and for clinicians who want to approach similar situations.
PubMed: 33912123
DOI: 10.3389/fneur.2021.629211 -
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 -
Journal of Clinical and Experimental... Apr 2021The term "symmetrical palatal fibromatosis" was recently suggested to designate bilateral palatal lesions presenting as typically broad, "mirror" images on the posterior...
BACKGROUND
The term "symmetrical palatal fibromatosis" was recently suggested to designate bilateral palatal lesions presenting as typically broad, "mirror" images on the posterior lateral region of the hard palate.
PURPOSE
We report an additional case of this as-yet poorly understood oral lesion in a 67-year-old male patient, with emphasis on differential diagnoses and immunohistochemical characterization.
CASE REPORT
The histopathological examination demonstrated a hypocellular, fibrous connective tissue with prominent thick collagen bundles and few blood vessels. Scattered large, stellate, and sometimes binucleated fibroblasts were found. Immunohistochemistry was positive for vimentin and negative for smooth muscle actin, S-100, desmin, HHF-35, AE1-AE3, Factor XIIIa, CD68, and FOSL1. This is the second study to show the immunohistochemical profile, with emphasis in FOSL1, of an additional case of symmetrical palatal fibromatosis.
CONCLUSIONS
We encourage further reports about this entity, especially in relation to immunohistochemical and molecular features, so far poorly described, but very important for better recognition of this entity. Palate, symmetrical palatal fibromatosis, desmoplastic fibroblastoma, immunohistochemistry.
PubMed: 33841744
DOI: 10.4317/jced.57732