Temporal Bone Histopathology of Atypical Cogan Syndrome.

Cogan's syndrome is a rare disorder first clinically defined in 1945, characterized by nonsyphilitic interstitial keratitis and progressive audiovestibular symptoms. Later, patients with audiovestibular dysfunction and various types of inflammatory eye disease were classified as having atypical Cogan's syndrome. The etiology and pathogenesis of Cogan's syndrome remain largely unknown. Here, we report a case of atypical Cogan's syndrome with a histological assessment of the temporal bone during the acute disease period. Temporal bone histology was compared to age- and gender-matched normal control, and our findings revealed endolymphatic hydrops and degenerative changes in various parts of the inner ear. Laryngoscope, 2024.

Clinical Characteristics of Pediatric Parainfluenza Virus Infections: A Comparative Analysis of Parainfluenza Virus Serotypes 1-4 From April 2021 to October 2023 in Hokkaido, Japan.

BACKGROUND: Parainfluenza virus (PIV) is widely known as a causative virus of acute respiratory tract infections in children, and 4 serotypes (PIV-1-PIV-4) have been identified. The purpose of the present study was to clarify the clinical characteristics of the PIV serotypes in pediatric PIV infections in Japan. METHODS: Between April 2021 and October 2023, 8821 children aged <16 years who presented with respiratory symptoms underwent multiplex polymerase chain reaction analyses at the Department of Pediatrics, NTT Medical Center Sapporo. All 1490 cases in which PIV was detected were analyzed for their clinical characteristics by PIV serotypes. RESULTS: Of the 1490 cases, 608 were positive for a single PIV serotype: 91 (13.5%) for PIV-1, 54 (4.8%) for PIV-2, 361 (62.1%) for PIV-3 and 102 (19.6%) for PIV-4. The median ages were 3.5 years for PIV-1, 5.4 years for PIV-2, 1.9 years for PIV-3 and 2.2 years for PIV-4, with a significantly older age for PIV-2. Compared with the other serotypes, croup was significantly more common in PIV-1 and lower respiratory tract infection was significantly more common in PIV-4. Of the 608 cases with a single PIV serotype, 114 were hospitalized. The proportion of hospitalized patients was higher for PIV-4 than for the other PIV serotypes, but the difference was not significant. CONCLUSIONS: Lower respiratory tract infection was more frequent in PIV-4 than in the other PIV serotypes, and PIV-4 infection may increase the risk of hospitalization.

Whole-genome analysis of human group A rotaviruses in 1980s Japan and evolutionary assessment of global Wa-like strains across half a century.

Historically, the Wa-like strains of human group A rotavirus (RVA) have been major causes of gastroenteritis. However, since the 2010s, the circulation of non-Wa-like strains has been increasingly reported, indicating a shift in the molecular epidemiology of RVA. Although understanding RVA evolution requires the analysis of both current and historical strains, comprehensive pre-1980's sequencing data are scarce globally. We determined the whole-genome sequences of representative strains from six RVA gastroenteritis outbreaks observed at an infant home in Sapporo, Japan, between 1981 and 1989. These outbreaks were mainly caused by G1 or G3 Wa-like strains, resembling strains from the United States in the 1970s-1980s and from Malawi in the 1990s. Phylogenetic analysis of these infant home strains, together with Wa-like strains collected worldwide from the 1970s to 2020, revealed a notable trend: pre-2010 strains diverged into multiple lineages in many genomic segments, whereas post-2010 strains tended to converge into a single lineage. However, Bayesian skyline plot indicated near-constant effective population sizes from the 1970s to 2020, and selection pressure analysis identified positive selection only at amino acid 75 of NSP2. These results suggest that evidence supporting the influence of rotavirus vaccines, introduced globally since 2006, on Wa-like RVA molecular evolution is lacking at present, and phylogenetic analysis may simply reflect natural fluctuations in RVA molecular evolution. Evaluating the long-term impact of RV vaccines on the molecular evolution of RVA requires sustained surveillance.

Comprehensive genomic profiling from C-CAT database unveiled over 80% presence of oncogenic drivers in anaplastic thyroid carcinoma including BRAF, RAS family, NF1, and FGFR1.

OBJECTIVE: Anaplastic thyroid carcinoma (ATC) is considered a very aggressive carcinoma and has been difficult to treat with therapeutic strategies. This study examines the landscape of genomic alteration in ATC, including the BRAF V600E mutation, and its clinical implications. DESIGN, PATIENTS AND MESUREMENT: A retrospective observational study was conducted using collected at the Center for Cancer Genomics and Advanced Therapeutics (C-CAT) in Japan, utilizing comprehensive genomic profiling data from 102 ATC cases. Additionally, AACR-GENIE data from 267 cases were analysed for validation. Statistical methods, including the conditional Kendall tau statistic and χ2 tests, were employed for survival analysis and gene mutation comparisons. RESULTS: Among 102 ATCs, BRAF, RAS, and other driver mutations were found in 83 cases (81.2%). The prevalence of BRAF V600E mutations was as high as 60%. Co-mutation analysis identified different genomic profiles in the BRAF, RAS, and wild-type groups. Despite the diverse molecular backgrounds, no significant differences in clinical variables and overall survival were observed. The analysis considering left-side amputation suggested that RAS mutations had a poorer prognosis. In the BRAF/RAS wild-type group, FGFR1 and NF1 were identified as driver mutations, with an accumulation of copy number variations and less TERT promoter mutations. This molecular subgrouping was also supported by the AACR-GENIE data. CONCLUSIONS: Comprehensive genomic analysis of ATC in Japan revealed distinct molecular subgroups, highlighting the importance of BRAF V600E mutations, particularly V600E, as potential therapeutic targets and suggest the relevance of tailor-made therapeutic strategies based on genomic profiling.

Vocal Fold Motion Impairment in Neurodegenerative Diseases.

Vocal fold motion impairment (VFMI) is the inappropriate movement of the vocal folds during respiration, leading to vocal fold adduction and/or abduction problems and causing respiratory and vocal impairments. Neurodegenerative diseases (NDDs) are a wide range of disorders characterized by progressive loss of neurons and deposition of altered proteins in the brain and peripheral organs. VFMI may be unrecognized in patients with NDDs. VFMI in NDDs is caused by the following: laryngeal muscle weakness due to muscular atrophy, caused by brainstem and motor neuron degeneration in amyotrophic lateral sclerosis; hyperactivity of laryngeal adductors in Parkinson's disease; and varying degrees of laryngeal adductor hypertonia and abductor paralysis in multiple system atrophy. Management of VFMI depends on whether there is a presence of glottic insufficiency or insufficient glottic opening with/without severe dysphagia. VFMI treatment options for glottic insufficiency range from surgical interventions, including injection laryngoplasty and medialization thyroplasty, to behavioral therapies; for insufficient glottic opening, various options are available based on the severity and underlying cause of the condition, including continuous positive airway pressure therapy, botulinum toxin injection, tracheostomy, vocal fold surgery, or a combination of interventions. In this review, we outline the mechanisms, clinical features, and management of VFMI in NDDs and provide a guide for physicians who may encounter these clinical features in their patients. NDDs are always progressive; hence, timely evaluation, proper diagnosis, and appropriate management of the patient will greatly affect their vocal, respiratory, and swallowing functions as well as their quality of life.

Role of stereotactic radiosurgery for recurrent skull base acinic cell carcinoma: illustrative case.

BACKGROUND: Acinic cell carcinomas (AcCCs), rare malignancies of the salivary glands, often recur and metastasize, particularly in the skull base. Conventional radical resection can be invasive for skull base AcCCs adjacent to cranial nerves and major vasculature, and the effectiveness of stereotactic radiosurgery (SRS) as an alternative is not well established. OBSERVATIONS: This case report details the application of SRS for recurrent skull base AcCCs. A 71-year-old male with a history of resection for a right mandibular AcCC 23 years earlier experienced tumor recurrence involving the right cavernous sinus and nasal cavity. He underwent endoscopic transnasal surgery followed by SRS targeting different tumor locations-the cavernous sinus to the pterygopalatine fossa, maxillary sinus, and clivus-each with a prescribed dose of 20 Gy to the 40% to 50% isodose line. After the first skull base metastasis, additional sessions of localized SRS after endoscopic surgery led to a 12-year survival without sequela. LESSONS: This is a report indicating that SRS for skull base AcCCs can achieve favorable local control, functional preservation, and long-term survival. SRS may be suitable for skull base AcCC given the lesion's tendency toward multiple local recurrences. Further investigation is needed to validate the treatment's efficacy.

Swallowing improvement surgeries.

PURPOSE: To discuss the different swallowing improvement surgeries that address one or more dysfunctional pharyngolaryngeal structures causing dysphagia. These surgeries reduce the risk of aspiration without sacrificing vocal function. METHODS: We searched the PubMed database and used Google Scholar search engine to find studies discussing the different swallowing improvement surgeries. A manual search of references in selected articles and reviews was done as well. No chronologic limitation was set for the studies; however, only articles written in English and Japanese were considered. Due to the nature of this article, no particular inclusion or exclusion criteria were set when searching for studies to be used as references; however, all relevant studies were reviewed and agreed upon by the authors for inclusion in this review article. RESULTS/DISCUSSION: Surgeries to improve swallowing function can be categorized into those that reinforce nasopharyngeal closure or pharyngeal contraction, improve laryngeal elevation or pharyngoesophageal segment opening, and those that improve vocal fold closure to protect the airway during swallowing. They are an effective alternative treatment that may significantly improve these patients' quality of life. Swallowing rehabilitation with the altered pharyngolaryngeal structures is required post-operatively to significantly improve patients' dysphagia. CONCLUSIONS: Surgeries to improve swallowing function address specific dysfunctional sites involved in the swallowing mechanism. Choosing the most appropriate surgery for each patient requires knowledge of the pathophysiology for their dysphagia and detailed pre-operative work-up.

Ultra-high combined positive score and high serum albumin are favorable prognostic biomarkers for immune checkpoint inhibitors in head and neck squamous cell carcinoma.

BACKGROUND: Biomarkers that predict response to immune checkpoint inhibitor (ICI) in recurrent metastatic squamous cell carcinoma of the head and neck (RMHNSCC) are not well known. METHODS: We prospectively measured the combined positive score (CPS) and administered ICI to patients with RMHNSCC. RESULTS: Of 51 patients, 23 patients had a CPS <20 and 12 patients (23.5%) had a CPS ≥90. CPS showed a negative correlation with serum albumin. Survival analysis showed a 2-year survival rate of 24.1%. In multivariate analysis, CPS ≥90 (HR 0.3026, p = 0.02614) and albumin >3.5 (HR 0.3463, p = 0.01354) were the significant factors and plus chemotherapy (HR 0.4648, p = 0.07632) was not significant. Seven patients (14%) with CPS ≥90 and albumin >3.5 showed a 2-year survival rate of 66. 7%. CONCLUSIONS: CPS ≥90 and albumin >3.5 cases are a subgroup of RMHNSCC that respond extremely well to ICI.

Differences in residual volume above different tracheostomy tube cuffs depending on tube structure, tube tilt angle, and liquid viscosity.

INTRODUCTION: Proper management of aspirated material above the tracheostomy tube cuff is crucial to prevent complications, such as aspiration pneumonia. This study aimed to thoroughly examine the effects of aspirated liquid viscosity, suction port positioning, and tube tilt angle on residual volume above the cuff (RVAC). METHODS: Five types of tracheostomy tubes (approximately 9 mm outer diameter) were placed through a transparent cylinder with an inner diameter of 18 mm. The cuff was inflated to completely seal the interior of the cylinder. Four liquids with different viscosities were poured onto the cuff, and the liquid above the cuff was suctioned from the side port. The cylinder was angled at 90° and 20°, and each test was performed thrice to determine the average RVAC. RESULTS: After side-port suctioning, some liquid residue was observed on the cuff of all tracheostomy tubes. The RVAC increased with higher liquid viscosity. The tubes with a longer distance from the suction port opening to the cuff top exhibited more RVAC. Moreover, the RVAC was almost the same regardless of the cylinder angle for tubes with a suction port on the lateral side. However, tubes with backside ports showed a decreased RVAC with cylinder tilt. CONCLUSIONS: This study underscores the persistence of residual material on cuffed tracheostomy tubes even with regular subglottic secretion drainage. This emphasizes the need for specialized tracheostomy tube development aimed at reducing post-suction RVAC. Improved designs can potentially minimize complications associated with residue accumulation.

Efficacy of tokishakuyakusan and mecobalamin on post-infectious olfactory dysfunction: A prospective multicenter study.

OBJECTIVE: To determine if tokishakuyakusan (TSS) is effective for treating post-infectious olfactory dysfunction (PIOD) compared with vitamin B12 (mecobalamin). METHODS: We conducted a randomized, nonblinded clinical trial. Patients with PIOD enrolled in 17 hospitals and clinics from 2016 to 2020 were randomly divided into two groups, and we administered TSS or mecobalamin for 24 weeks. Their olfactory function was examined using interviews and T&T olfactometry. The improvement of olfactory dysfunction was assessed following the criteria of the Japanese Rhinologic Society. RESULTS: Overall, 82 patients with PIOD were enrolled in this study. In the TSS and mecobalamin groups, 39 patients completed the medication regimen. In the TSS and mecobalamin groups, olfactory dysfunction was significantly improved based on self-reports and olfactory test results. The improvement rate of olfactory dysfunction was 56% in the TSS group and 59% in the mecobalamin group. Early intervention within 3 months produced a better prognosis than the treatment initiated after 4 months. Furthermore, age and sex differences were not observed. Both medications produced no severe adverse events. CONCLUSION: The present study showed that TSS and mecobalamin might be useful for treating PIOD.

Predicting synkinesis caused by Bell's palsy or Ramsay Hunt syndrome using machine learning-based logistic regression.

Objective: To investigate whether machine learning (ML)-based algorithms, namely logistic regression (LR), random forest (RF), k-nearest neighbor (k-NN), and gradient-boosting decision tree (GBDT), utilizing early post-onset parameters can predict facial synkinesis resulting from Bell's palsy or Ramsay Hunt syndrome more accurately than the conventional statistics-based LR. Methods: This retrospective study included 362 patients who presented to a facial palsy outpatient clinic. Median follow-up of synkinesis-positive and -negative patients was 388 (range, 177-1922) and 198 (range, 190-3021) days, respectively. Electrophysiological examinations were performed, and the rate of synkinesis in Bell's palsy and Ramsay Hunt syndrome was evaluated. Sensitivity and specificity were assessed using statistics-based LR; and electroneurography (ENoG) value, the difference in the nerve excitability test (NET), and scores of the subjective Yanagihara scaling system were evaluated using early post-onset parameters with ML-based LR, RF, k-NN, and GBDT. Results: Synkinesis rate in Bell's palsy and Ramsay Hunt syndrome was 20.2% (53/262) and 40.0% (40/100), respectively. Sensitivity and specificity obtained with statistics-based LR were 0.796 and 0.806, respectively, and the area under the receiver operating characteristic curve (AUC) was 0.87. AUCs measured using ML-based LR of "ENoG," "difference in NET," "Yanagihara," and all three components ("all") were 0.910, 0.834, 0.711, and 0.901, respectively. Conclusion: ML-based LR model shows potential in predicting facial synkinesis probability resulting from Bell's palsy or Ramsay Hunt syndrome and has comparable reliability to the conventional statistics-based LR. Level of Evidence: 3.

The morphometrical evaluation after uvulopalatopharyngoplasty.

OBJECTIVES: The aim of this study was to evaluate the efficacy of uvulopalatopharyngoplasty (UPPP) and the corresponding postoperative morphometrical changes. METHODS: Patients diagnosed with obstructive sleep apnea syndrome who complained of snoring and apnea were enrolled in this study. Pre- and postoperative tests, including CTs, pharyngeal volume (PV), cross-sectional area (CSA), and six-category morphometrical studies, were performed. RESULTS: Of 11 patients included, 10 showed improvement of symptoms. BMI correlated with the respiratory event index (REI). In terms of PV, there was a significantly wider postoperative area. The rate of change between preoperative REI and postoperative REI (ΔREI) correlated with the amount of change of PV between preoperative PV and postoperative PV (ΔPV). CSA increased postoperatively and correlated with REI. Uvula space (UV) and distance between the hyoid bone and the base of the tongue (HB) increased postoperatively, and posterior airway space (PAS) and epiglottic space (Epi) decreased postoperatively. UV and PAS were significant (p = 0.046, 0.014). UV was related to REI. CONCLUSION: Widening the PV, increasing CSA, and the posterior movement of the tongue base after UPPP surgery were found. The improvement of REI did not depend only on volume. These results suggest that it was important not only to widen the PV but also to improve the shape of the pharynx.

Endoscopic Extended Transsphenoidal Surgery Aiming for Radical Resection of Skull Base Tumors Involving Cavernous Sinus: Assessment of Resectability and Risks of Complications.

BACKGROUND AND OBJECTIVES: Surgical resection of tumors invading the cavernous sinus (CS) still shows therapeutic challenges. For "nonadenomatous" skull base tumors invading in CS, there were only a few reports showing the outcomes of radical resection. Therefore, the outcomes of endoscopic transsphenoidal surgery (ETS) aiming for radical resection thus remain largely unknown regarding resectability and functional results of the cranial nerves. METHODS: We performed ETS aiming for radical resection in 35 skull base tumors involving CS (17 chondrosarcomas, 12 chordomas, 3 meningiomas, and 3 trigeminal schwannomas; median follow-up 36.5 months ranging from 12 to 91 months). Gross total resection (GTR) is attempted in all the cases for real-time findings from electrophysiological monitoring of the cranial nerves. When the tumor was strongly adherent to the cranial nerves or internal carotid artery, maximum volume reduction of the tumor was attempted. RESULTS: GTR was achieved in 28 patients (80.0%), subtotal resection in 3 (8.6%), and partial resection in 4 (11.4%). One patient experienced internal carotid artery injury during surgery. After ETS, 15 patients showed symptom improvement (51.7% in all 29 patients with preoperative cranial nerve symptoms, CNS). Four (11.4%) transiently developed abducens nerve palsy, and one required repair surgery for cerebrospinal leakage. In univariate analyses, extension to the lateral compartment of CS ( P = .04) was significantly associated with reduced achievement of GTR. Previous transcranial surgery was associated with reduced possibility of improvement and worsening in CNS. Eleven patients underwent stereotactic radiosurgery, at a median of 12 months after ETS. 32 patients (91.4%) did not show recurrence at the final follow-up. CONCLUSION: ETS can achieve sufficient surgical resection in most of the patients, with acceptable neurological complications. For patients with CNS, ETS may offer the opportunity for improving CNS. We should also always prioritize avoidance of critical situations by preventing internal carotid artery injury.

Stereotactic radiosurgery for recurrent skull base polymorphous adenocarcinoma invading the cavernous sinus: illustrative case.

BAKGROUND: Polymorphous adenocarcinomas (PACs) are rare tumors arising from the salivary glands. Radical resection and postoperative radiotherapy are the mainstays of treatment. However, complete tumor resection is not always achievable when the tumor invades the skull base. Stereotactic radiosurgery (SRS) could be a less invasive alternative for treating skull base PACs. OBSERVATIONS: A 70-year-old male with a history of surgery for a right palatine PAC presented with right visual impairment, diplopia, and ptosis. Imaging studies revealed tumor recurrence invading the right cavernous sinus (CS). SRS using a gamma knife was performed for this recurrence, prescribing a marginal dose of 18 Gy at a 50% isodose line. Five months after SRS, his symptoms were relieved, and the tumor was well-controlled for 55 months without any adverse events. LESSONS: To the best of the authors' knowledge, this is the world's first case of recurrent skull base PAC invading the CS that was successfully treated with salvage SRS. Thus, SRS may be an applicable treatment option for skull base PACs.

Long-term Outcomes of Non-vascularized Multilayer Fascial Closure Technique for Dural Repair in Endoscopic Transnasal Surgery: Efficacy, Durability, and Limitations.

OBJECTIVE: Non-vascularized multilayer fascial closure technique (NMFCT) can be used instead of nasoseptal flap reconstruction for dural repair in endoscopic transnasal surgery (ETS); however, due to the lack of blood supply, its long-term durability and possible limitations need to be clarified. METHODS: This was a retrospective study on patients who underwent ETS with intraoperative cerebrospinal fluid (CSF) leakage. We assessed the postoperative and delayed CSF leakage rates and the associated risk factors. RESULTS: Among 200 ETSs with intraoperative CSF leakage, 148 (74.0%) ETSs were performed for skull base pathologies other than pituitary neuroendocrine tumor. The mean follow-up period was 34.4 months. Esposito grade 3 leakage was confirmed in 148 (74.0%) cases. NMFCT was used either with (67 [33.5%]) or without (133 [66.5%]) lumbar drainage. There were 10 cases (5.0%) of postoperative CSF leakage that necessitated reoperation. In 4 other cases (2.0%), CSF leakage was suspected but lumbar drainage alone successfully restored the condition. Multivariate logistic regression analyses revealed that posterior skull base location (P < 0.01, odds ratio 11.5, 95% CI 1.99-2.17 × 102) and craniopharyngioma pathology (P = 0.03, odds ratio 9.4, 95% CI 1.25-1.92 × 102) were significantly associated with postoperative CSF leakage. No delayed leakage occurred during the observation period except for 2 patients who underwent multiple radiotherapies. CONCLUSIONS: NMFCT is a reasonable alternative with long-term durability, though vascularized flap may be a better choice for cases in which vascularity of the surrounding tissues is significantly impaired due to interventions including multiple radiotherapies.

Oral Administration of TrkB Agonist, 7, 8-Dihydroxyflavone Regenerates Hair Cells and Restores Function after Gentamicin-Induced Vestibular Injury in Guinea Pig.

The causes of vestibular dysfunction include the loss of hair cells (HCs), synapses beneath the HCs, and nerve fibers. 7, 8-dihydroxyflavone (DHF) mimics the physiological functions of brain-derived neurotrophic factor. We investigated the effects of the orally-administered DHF in the guinea pig crista ampullaris after gentamicin (GM)-induced injury. Twenty animals treated with GM received daily administration of DHF or saline for 14 or 28 days (DHF (+) or DHF (-) group; N = 5, each). At 14 days after GM treatment, almost all of the HCs had disappeared in both groups. At 28 days, the HCs number in DHF (+) and DHF (-) groups was 74% and 49%, respectively, compared to GM-untreated control. In the ampullary nerves, neurofilament 200 positive rate in the DHF (+) group was 91% at 28 days, which was significantly higher than 42% in DHF (-). On day 28, the synaptic connections observed between C-terminal-binding protein 2-positive and postsynaptic density protein-95-positive puncta were restored, and caloric response was significantly improved in DHF (+) group (canal paresis: 57.4% in DHF (+) and 100% in DHF (-)). Taken together, the oral administration of DHF may be a novel therapeutic approach for treating vestibular dysfunction in humans.

Kashimé: A Novel Knotless Surgical Suture to Simplify Dural Stitches in Endoscopic Transnasal Surgery.

BACKGROUND: Dural suturing is an effective adjunct to skull base dural repair in endoscopic transnasal surgery, although it is technically cumbersome. Here, we presented a novel surgical suture "Kashimé" (Kono Seisakusho) that can be tightened without tying. OBJECTIVE: To examine the efficacy of Kashimé for skull base dural repair in endoscopic transnasal surgery. METHODS: Kashimé was used in 8 patients with skull base dural defects during nonpedicled flap-based multilayered skull base reconstruction to close or approximate the gaps between the dural edges or secure a free fascial graft. The time required for each dural stitch (passing a needle through the dura, pulling out the thread, and tightening it) and the incidence of postoperative cerebrospinal fluid leakage were the study end points. RESULTS: Based on our preliminary experiences with 12 stitches used, no postoperative cerebrospinal fluid leakage was observed. The learning curve was steep, and the mean (±SD) time was 127 (±44) seconds for a single stitching procedure, except for the first case. Regarding the metal artifact, although a beam hardening artifact was not observed on computed tomography, a 4- to 9-mm diameter image defect was observed on magnetic resonance imaging. CONCLUSION: Kashimé can help surgeons to complete a single dural stitch in endoscopic transnasal surgery for approximately 2 minutes. It may be an optimal tool for skull base reconstruction, but the efficacy and safety need to be investigated.

Clinical and electrophysiological findings of facial palsy in a case of hereditary gelsolin amyloidosis.

Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant systemic amyloidosis, characterized by cranial and sensory peripheral neuropathy, corneal lattice dystrophy, and cutis laxa. We report a case of HGA presenting with bilateral facial palsy. A 70-year-old Japanese man presented with slowly progressive bilateral facial palsy and facial twitching, which had started in his 40s. His mother also had the same symptoms due to an unknown cause but rest of the family did not. He showed incomplete facial palsy with no frontal muscle movement and partial movement of the orbicularis oris and orbicularis oculi muscles. The patient showed no synkinesis. Electroneurography revealed symmetric low compound motor action potential amplitude of the orbicularis oris muscle, and a nerve excitability test showed a symmetric increase in the response threshold. Despite the partial voluntary movement of the orbicularis oculi muscle, bilateral blink reflexes were absent. He also showed facial spasms after contraction of the orbicularis oris muscle. Genetic testing revealed a heterozygous c.640G>A mutation (p. Asp214Asn); therefore, the patient was diagnosed with HGA. HGA related facial palsy showed moderate bilateral, upper blanch-dominant axonal degeneration of the facial nerve without reinnervation, and trigeminal nerve neuropathy.

Efficacy of High-Dose Corticosteroid Therapy in Acute Stage Severe Facial Palsy in Children.

OBJECTIVES: To evaluate the efficacy of high-dose corticosteroid for severe acute facial paralysis in children. METHODS: The present study enrolled 10 pediatric patients with House-Brackmann (H-B) Grade VI facial paralysis who received prednisolone (PSL) 3 to 4 mg/kg/d for 2 to 3 days followed by a 10-day taper (the child high-dose group). Eight pediatric patients who received PSL 0.5 to 1 mg/kg/d were enrolled in a child low-dose group, and nine adult patients (25-64 yr) who received a high-dose PSL 200 mg equivalent for 2 to 3 days followed by a 10-day taper were enrolled in an adult high-dose group. On the initial and follow-up visits, facial movements were evaluated using the H-B grading system. The degree of oral-ocular synkinesis was evaluated by the degree of asymmetry in eye-opening width during mouth movements. The synkinesis index was defined as a percentage of the interpalpebral space width ([normal side - affected side]/normal side). RESULTS: The child high-dose group achieved a significantly better H-B score than the child low-dose group ( p < 0.01). The synkinesis index was significantly lower in the child high-dose group than in the child low-dose group or the adult high-dose group ( p < 0.05). CONCLUSION: Children receiving PSL 3 to 4 mg/kg/d achieved better recovery and less synkinesis than those treated with low-dose PSL (0.5-1 mg/kg/d).

Effects of jaw movement in bimaxillary orthognathic surgery on the upper airway: Computational fluid dynamics analysis.

Maxillomandibular repositioning in orthognathic surgeries has both morphologic and functional effects. These surgeries are thought to change the pharyngeal space and cause obstructive sleep apnoea syndrome, however. The primary purpose of this study is to evaluate the effects of jaw movement in bimaxillary orthognathic surgery on airway function and to identify the morphometric factors that can predict postoperative airway function. The subjects were 11 males and 12 females who had undergone orthognathic surgeries of the maxilla and mandible. The results of cephalometric analysis, cross-sectional area of the pharynx (CSA), pharyngeal volume and computational fluid dynamics (CFD) were compared. The CSA of the nasal (CSA1), total volume and total nasal volume decreased after surgery with statistical significance. Velocity at the oropharyngeal space (V2) increased after surgery with statistical significance. V2, CSA of the oropharyngeal space (CSA2) and PV were correlated with the horizontal posterior movement of point B, point Menton and overjet. V2 and CSA2 were correlated with SNB before and after surgery in all 46 analyses. Changes in pharyngeal airflow were more affected by pressure drop in the pharyngeal space (ΔPp) than by pressure drop in the nasal space (ΔPn). The relationship between the actual amount of change in the cephalometric reference point and the airway function is evident. CFD may thus be very useful as morphological analysis in preoperative treatment decision making.