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The Cleft Palate-craniofacial Journal :... Jul 2024To determine the sensitivity and specificity of velar notching seen on nasopharyngoscopy for levator veli palatini (LVP) muscle discontinuity and anterior positioning....
UNLABELLED
To determine the sensitivity and specificity of velar notching seen on nasopharyngoscopy for levator veli palatini (LVP) muscle discontinuity and anterior positioning. Nasopharyngoscopy and MRI of the velopharynx were performed on patients with VPI as part of their routine clinical care. Two speech-language pathologists independently evaluated nasopharyngoscopy studies for the presence or absence of velar notching. MRI was used to evaluate LVP muscle cohesiveness and position relative to the posterior hard palate. To determine the accuracy of velar notching for detecting LVP muscle discontinuity, sensitivity, specificity, and positive predictive value (PPV) were calculated. A craniofacial clinic at a large metropolitan hospital.
PARTICIPANTS
Thirty-seven patients who presented with hypernasality and/or audible nasal emission on speech evaluation and completed nasopharyngoscopy and velopharyngeal MRI study as part of their preoperative clinical evaluation.
UNLABELLED
Among patients with partial or total LVP dehiscence on MRI, presence of a notch accurately identified discontinuity in the LVP 43% (95% CI 22-66%) of the time. In contrast, the absence of a notch accurately indicated LVP continuity 81% (95% CI 54-96%) of the time. The PPV for the presence of notching to identify a discontinuous LVP was 78% (95% CI 49-91%). The distance from the posterior edge of the hard palate to the LVP, known as effective velar length, was similar in patients with and without notching (median 9.8 mm vs 10.5 mm, = 1.00).
UNLABELLED
The observation of a velar notch on nasopharyngoscopy is not an accurate predictor of LVP muscle dehiscence or anterior positioning.
Topics: Humans; Female; Male; Palatal Muscles; Magnetic Resonance Imaging; Endoscopy; Velopharyngeal Insufficiency; Sensitivity and Specificity; Child; Child, Preschool; Adolescent; Predictive Value of Tests
PubMed: 36890699
DOI: 10.1177/10556656231161991 -
Zhonghua Er Ke Za Zhi = Chinese Journal... Mar 2023To summarize the genetic and clinical phenotypic characteristics of patients with early-onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) caused by... (Review)
Review
To summarize the genetic and clinical phenotypic characteristics of patients with early-onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) caused by multiple epidermal growth factor 10 (MEGF10) gene defect. The clinical data of 3 infants in 1 family with EMARDD caused by MEGF10 gene defect diagnosed in the Department of Neonatology, Xiamen Children's Hospital in April 2022 were analyzed retrospectively. Using "multiple epidermal growth factor 10" "myopathy" or "MEGF10" "myopathy" as the key words, and searching the relevant literature reports of CNKI, Wanfang Database and PubMed Database from the establishment of the database to September 2022. Combined with this family, the main clinical information and genotype characteristics of EMARDD patients caused by MEGF10 gene defect were summarized. The proband, male, first infant of monozygotic twins, was admitted to hospital 7 days after birth "due to intermittent cyanosis with weak sucking". The infant had dysphagia accompanied with cyanosis of lips during feeding and crying after birth. Physical examination on admission revealed reduced muscle tone of the extremities, flexion of the second to fifth fingers of both hands with limited passive extension of proximal interphalangeal joints, and limited abduction of both hips. He was diagnosed as dysphagia of newborn, congenital dactyly. After admission, he was given limb and oral rehabilitation training, breathing gradually became stable and oral feeding fully allowed, and discharged along with improvement. The younger brother of the proband was admitted to the hospital at the same time, and his clinical manifestations, diagnosis and treatment process were the same as those of the proband. The elder brother of the proband died at the age of 8 months due to the delayed growth and development, severe malnutrition, hypotonia, single palmoclal crease and weak crying. A whole exon sequencing of the family was done, and found that the 3 children were all compound heterozygous variations at the same site of MEGF10 gene, with 2 splicing variants (c.218+1G>A, c.2362+1G>A), which came from the father and mother respectively, and the new variation was consistent with the autosomal recessive inheritance model. Three children were finally diagnosed as EMARDD caused by MEGF10 gene defect. There are 0 Chinese literature and 18 English literature that met the search conditions. Totally 17 families including 28 patients were reported. There were 31 EMARDD patients including 3 infants from this family. Among them, there were 13 males and 18 females. The reported age of onset ranged from 0 to 61 years. Except for 5 patients with incomplete clinical data, 26 patients were included in the analysis of phenotypic and genotypic characteristics. The clinical features were mainly dyspnea (25 cases), scoliosis (22 cases), feeding difficulties (21 cases), myasthenia (20 cases), and other features including areflexia (16 cases) and cleft palate or high palatal arch(15 cases). Muscle biopsy showed non-specific changes, with histological characteristics ranging from slight muscle fiber size variation to minicores change which was seen in all 5 patients with at least 1 missense mutation of allele. In addition, the adult onset was found in patients with at least 1 missense variant of MEGF10 gene. MEGF10 gene defect related EMARDD can occur in the neonatal period, and the main clinical features are muscle weakness, breathing and feeding difficulties. Patients with myopathy who have at least 1 missense mutation and muscle biopsy indicating minicores change may be relatively mild.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Middle Aged; Young Adult; Cyanosis; Deglutition Disorders; EGF Family of Proteins; Muscle Hypotonia; Muscle Weakness; Muscular Diseases; Retrospective Studies
PubMed: 36849355
DOI: 10.3760/cma.j.cn112140-20221214-01046 -
Craniomaxillofacial Trauma &... Mar 2023Description and validation of a surgical technique.
STUDY DESIGN
Description and validation of a surgical technique.
OBJECTIVE
En-bloc maxillectomy with removal of the nasal septum is a rare procedure; preservation of the nasal bones and integrity of the alveolar ridge is even rarer. These procedures traditionally required a combined transfacial-transoral approach based on lateral rhinotomy. We describe a combined endoscopic transnasal-transoral approach for treatment of nasal septal malignancies that involve the hard palate.
METHODS
Excision of malignant tumours arising from the nasal septum was achieved in 4 patients using a transnasal-transoral endoscopic approach. Using 4-mm optics angled at 0° and 30°, the septum was freed from the ethmoid and removed with the hard palate, by pulling the septum down through the hard palate.
RESULTS
Of the 4 patients, 2 underwent complete removal of septal chondrosarcomas, one removal of a sinonasal undifferentiated carcinoma and one removal of a mucoepidermoid carcinoma. In two cases, the palatal mucosa was spared and repositioned to restore separation between the nose and oral cavity. The remaining two cases underwent complete resection of the hard palate; one palate was reconstructed using a pedicled temporalis muscle flap and the other by employing an obturator. No infection was encountered. Partial ethmoidectomy was performed in all four cases. The mean hospital stay was 5 days. All patients are free of disease after a mean follow-up of 4 years (range: 2-7 years).
CONCLUSIONS
Our new approach allows for minimally invasive resection of nasal septal malignancies that extend to the palate. Our maxillary pull-through technique is a valuable new surgical procedure for malignant pathologies of the nasal septum; the only drawback is that endoscopic surgery has a steep learning curve.
PubMed: 36824185
DOI: 10.1177/19433875211067010 -
Anatomical Record (Hoboken, N.J. : 2007) Nov 2023Herein, we compared the developmental maturity of the cranium, limbs, and feeding apparatus in a perinatal common vampire bat relative to its mother. In addition, we...
Herein, we compared the developmental maturity of the cranium, limbs, and feeding apparatus in a perinatal common vampire bat relative to its mother. In addition, we introduce a method for combining two computed tomographic imaging techniques to three-dimensionally reconstruct endocasts in poorly ossified crania. The Desmodus specimens were scanned using microcomputed tomography (microCT) and diffusible iodine-based contrast-enhanced CT to image bone and soft tissues. Muscles of the jaw and limbs, and the endocranial cavity were segmented using imaging software. Endocranial volume (ECV) of the perinatal Desmodus is 74% of adult ECV. The facial skeletal is less developed (e.g., palatal length 60% of adult length), but volumes for alveolar crypts/sockets of permanent teeth are nearly identical. The forelimb skeleton is uniformly less ossified than the distal hind limb, with no secondary centers ossified and an entirely cartilaginous carpus. All epiphyseal growth zones are active in the brachium and antebrachium, with the distal radius exhibiting the greatest number of proliferating chondrocytes arranged in columns. The hind limb skeleton is precociously ossified from the knee distally. The musculature of the fore limb, temporalis, and masseter muscles appear weakly developed (6-11% of the adult volume). In contrast, the leg and foot musculature is better developed (23-25% of adult volume), possibly enhancing the newborn's capability to grip the mother's fur. Desmodus is born relatively large, and our results suggest they are born neurally and dentally precocious, with generally underdeveloped limbs, especially the fore limb.
Topics: Animals; Infant, Newborn; Humans; X-Ray Microtomography; Skull; Osteogenesis; Muscles; Lower Extremity
PubMed: 36806921
DOI: 10.1002/ar.25179 -
Indian Journal of Otolaryngology and... Dec 2022OSMF is a precancerous condition of the oral cavity. Cons umption of Areca nut in quid has been proved to be the most consistent factor. To assess middle ear function in...
OSMF is a precancerous condition of the oral cavity. Cons umption of Areca nut in quid has been proved to be the most consistent factor. To assess middle ear function in OSMF patients by audiometry and tympanometry. Two Hundred patients of < 40 years of age with OSMF were examined and followed by PTA and impedance audiometry. Impaired mobility was seen in 20(10%) ears, and retraction of tympanic membrane was found in 36(18%) ears. Clinical staging was done in four stages. Majority of the patients were males (58%) in the age group of 21-30 years belonging to stage III (38%) and IV (26%) respectively. PTA showed varying degrees of hearing loss in 73 (36.5%) ears. In Grade I, mild hearing loss was seen in 10 (35.71%) ears and moderately severe hearing loss was in 5 (11.36%) ears whereas in Grade II mild hearing loss in 11(25%) ears. Grade III and IV showed mild hearing loss in 11(14.47%) and 12 (23.07%) respectively. Tympanometry revealed type A curve in 126 (63%) ears followed by C curve in 50 (25%) and B curve in 24 (12%) ears. In patients of OSMF, there is involvement of palatal/paratubal muscles in the fibrosis process, which causes eustachian tube malfunction leading to disturbed middle ear functions and negative middle ear pressure. Most patients of oral submucous fibrosis showed direct association with grade of hearing impairment and eustachian tube dysfunction. Higher clinical grades, both clinically and histologically showed similar findings thereby we concluded that if the disease is treated early, preventing patients from having higher grades of disease, involvement of ear can be avoided, and patients can be saved from hearing impairment.
PubMed: 36742817
DOI: 10.1007/s12070-022-03077-2 -
Indian Journal of Otolaryngology and... Dec 2022Diphtheria is an acute infectious disease caused by the exotoxin produced by Corynebacterium diphtheriae, a gram positive bacteria. It has propensity to affect mainly...
Diphtheria is an acute infectious disease caused by the exotoxin produced by Corynebacterium diphtheriae, a gram positive bacteria. It has propensity to affect mainly cardiac muscle and nervous system. To study the percentage, spectrum of patients with various neurological complications and the pattern of recovery in followed up confirmed cases of diphtheria. Single centre prospective analysis of neurological complications in diphtheria patients from June 2019 to September 2020 at SMS Medical College and hospital,Jaipur. In this study, 60 cases were included. Immunised cases were 60% (36 out of 60 cases) whereas unimmunised constituted the rest 40% (24 out of 60 cases). Neurological complications were observed in 15% of the cases (9 out of 60). Isolated palatal palsy was the most common complication (4 out of 9 cases, 44.44%), succeeded by lower limb LMN palsies (2 out of 9 cases, 22.22%) with unilateral facial nerve palsy, bilateral abductor palsy and paralytic ileus constituting the rest (1 out of 9 cases each, 11.11% each). Onset of complications ranged from 10 to 36 days whereas recovery was complete and without any residual sequelae between 60 to 240 days. Our study concluded that neurological complications form a sizeable portion of post diptheritic complications and carries good prognosis, hence timely diagnosis and differentiation from other neuropathies is a pre requisite for rational management and contact tracing.
PubMed: 36742785
DOI: 10.1007/s12070-021-02706-6 -
Indian Journal of Otolaryngology and... Dec 2022Oral Submucous fibrosis (OSMF) is a chronic insidious disease of oral mucosa that occurs due to areca-nut chewing, consumption of chillies, autoimmunity and genetic...
Oral Submucous fibrosis (OSMF) is a chronic insidious disease of oral mucosa that occurs due to areca-nut chewing, consumption of chillies, autoimmunity and genetic predisposition. The disease starts with burning sensation and inability to tolerate spicy foods with gradual reduction in mouth opening due to fibrosis of the oral mucosa. The extension of fibrosis into the naso pharynx leads to reduction in hearing efficiency. As very few studies had been done to evaluate the hearing disability in OSMF patients, this study had been undertaken to prove the same. To evaluate hearing efficiency in patients with Oral Submucous Fibrosis of various grades of severity. Presentation includes 30 patients of osmf with various grades and evaluated for hearing efficacy by audiometry. Hearing threshold was compared in different grades of osmf. The present study revealed a significant association between OSMF and hearing deficit. Involvement of the palatal muscles with OSMF may decrease the patency of the Eustachian tube, leading to conductive hearing loss. Therefore, the protocol for managing OSMF patients should include ENT consultation and treatment for hearing deficit in order to increase the success rate of treatment.
PubMed: 36742668
DOI: 10.1007/s12070-020-02246-5 -
Acta Otorhinolaryngologica Italica :... Dec 2022To describe a clear and intuitive way to analyse the anatomical meaning of images observed in Drug-induced Sleep Endoscopy (DISE) to fully understand the obstructive...
OBJECTIVE
To describe a clear and intuitive way to analyse the anatomical meaning of images observed in Drug-induced Sleep Endoscopy (DISE) to fully understand the obstructive dynamics and therefore opt for a tailor-made pharyngeal surgical technique.
METHODS
From January 2016 to December 2020, 298 patients who underwent DISE were selected according to inclusion criteria.
RESULTS
The case series consisted of 204 males and 94 females with a mean age of 56 years. Body mass index ranged from 19 kg/m to 34 kg/m with a median of 26.5 kg/m. Median Apnoea-Hypopnea Index (AHI) was 27 (range 5-62.3). The authors also observed four palate pharyngeal phenotypic patterns of collapse and clarify the morphology and role of the main muscles involved in upper airway collapse.
CONCLUSIONS
DISE is fundamental to determine the collapse site in patients affected by obstructive sleep apnoea syndrome. The velopharyngeal region is the most common site of obstruction and lateral pharyngeal wall collapse is the major determining factor. DISE can lead to a deeper understanding of the obstructive dynamic patterns and a more precise identification of the muscle bundles responsible for upper airway collapse.
Topics: Male; Female; Humans; Middle Aged; Airway Obstruction; Sleep Apnea, Obstructive; Pharynx; Endoscopy; Sleep
PubMed: 36654522
DOI: 10.14639/0392-100X-N2143 -
Journal of Medical Case Reports Jan 2023Collagenous fibroma or desmoplastic fibroblastoma is a rare benign fibrous tissue tumor. It usually presents as a painless, slowly growing mass. Collagenous fibroma... (Review)
Review
BACKGROUND
Collagenous fibroma or desmoplastic fibroblastoma is a rare benign fibrous tissue tumor. It usually presents as a painless, slowly growing mass. Collagenous fibroma arises ordinarily inside the subcutaneous tissues or skeletal muscles. Histopathologically, the tumor consists of scattered stellate and spindle cells in a hypovascular collagenous stroma without atypia or infiltration. The oral cavity is a very uncommon site for desmoplastic fibroblastoma. Only 15 published articles in the literature reported the intraoral location. We present a case of collagenous fibroma with a bilateral distribution on the hard palate. This is the second case of bilateral collagenous fibroma after a previously reported one in literature; however, our case was larger, occupying almost the whole palate. We discuss the management of this rare tumor and how we can reach definite diagnosis.
CASE PRESENTATION
A 37-year-old Caucasian female patient had a huge bilateral firm palatal mass that caused breathing problems. There was no history of trauma and the patient had no relevant medical history Total surgical excision under general anesthesia was carried out and histopathological examination suggested a benign mesenchymal tumor. Immunohistochemistry was necessary to confirm the tumor origin and to exclude aggressive fibromatosis. A diagnosis of bilateral collagenous fibroma was reached. Six months after surgery, there was no recurring lesion and the patient's health was good.
CONCLUSIONS
Collagenous fibroma is a benign fibrous tissue tumor of unknown cause that is treated with simple excision. The prognosis is good with no recurrence. Reaching an accurate diagnosis is mandatory to avoid aggressive treatment since collagenous fibroma may be misdiagnosed as aggressive fibromatosis in case of massive size. Clinicians and pathologists should be aware of this unusual tumor for conservative management without side effects.
Topics: Humans; Female; Adult; Fibroma, Desmoplastic; Fibromatosis, Aggressive; Palate, Hard; Fibroma; Soft Tissue Neoplasms
PubMed: 36609451
DOI: 10.1186/s13256-022-03691-2