Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia.

OBJECTIVES: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by recurrent epistaxis, telangiectasia, and visceral arteriovenous malformations (AVMs). Activin A receptor-like type 1 (ACVRL1/ALK1) and endoglin (ENG) are the principal genes whose mutations cause HHT. No multicenter study has yet investigated correlations between genetic variations and clinical outcomes in Korean HHT patients. METHODS: Seventy-two members from 40 families suspected to have HHT based on symptoms were genetically screened for pathogenic variants of ACVRL1 and ENG. Patients with genetically diagnosed HHT were also evaluated. RESULTS: In the HHT genetic screening, 42 patients from 24 of the 40 families had genetic variants that met the pathogenic criteria (pathogenic very strong, pathogenic strong, pathogenic moderate, or pathogenic supporting) based on the American College of Medical Genetics and Genomics Standards and Guidelines for either ENG or ACVRL1: 26 from 12 families (50%) for ENG, and 16 from 12 families (50%) for ACVRL1. Diagnostic screening of 42 genetically positive HHT patients based on the Curaçao criteria revealed that 24 patients (57%) were classified as having definite HHT, 17 (41%) as having probable HHT, and 1 (2%) as unlikely to have HHT. Epistaxis was the most common clinical presentation (38/42, 90%), followed by visceral AVMs (24/42, 57%) and telangiectasia (21/42, 50%). Five patients (12%) did not have a family history of HHT clinical symptoms. CONCLUSION: Only approximately half of patients with ACVRL1 or ENG genetic variants could be clinically diagnosed as having definite HHT, suggesting that genetic screening is important to confirm the diagnosis.

Prevalence and clinical aspects of hearing loss among the South Korean adolescent: Data from a population-based study.

OBJECTIVES: Slight/mild hearing loss is detrimental to communication and academic achievements. This study aimed to describe the prevalence of hearing loss, and to investigate the factors related to noise-induced hearing loss among South Korean adolescent. METHODS: As a population-based retrospective study, 1845 South Korean adolescents aged from 12 to 19 years were analyzed using the data from Korea National Health and Nutrition Examination Survey V (KNHANES V, 2010-2012). The prevalence of hearing loss according to the side, severity, and frequency was calculated. For assessing the noise-induced hearing loss in adolescent, the prevalence of hearing loss only in high-frequency (onlyHFHL, defined as 1) thresholds at 0.5 and 1 kHz of ≤15 dB HL, and 2) maximal thresholds at 3, 4, or 6 kHz ≥ 15 dB HL higher than the highest threshold for 0.5 and 1 kHz) was analyzed. Moreover, the relevance of onlyHFHL in context of sociodemographic factors and noise exposure history was evaluated. RESULTS: The prevalence of unilateral and bilateral hearing loss based on the average of six frequencies (0.5, 1, 2, 3, 4, and 6 kHz) in South Korean adolescents were 8.56% and 1.03%, respectively, and most cases were hearing loss with slight/mild degree. The prevalence of unilateral and bilateral onlyHFHL were 32.74% and 5.53%, respectively. Factors found to be associated with onlyHFHL were sex (female) and household income (high). CONCLUSIONS: According to this population-based study, the prevalence of slight/mild hearing loss and onlyHFHL in the South Korean adolescents were considerably high. With knowledge of the factors related with onlyHFHL, paying more attention to slight/mild hearing loss will be helpful in preventing hearing loss in adolescents.

Autologous Fat Injection for the Correction of Facial Depression Resulting From Silent Sinus Syndrome.

The case of a 59-year-old woman who underwent endoscopic sinus surgery for right maxillary sinusitis 5 years before visiting our otorhinolaryngologic department complaining of right-sided facial depression was described in this study. Computed tomography (CT) scans revealed right facial depression and retraction of the orbital floor due to a hypoplastic right maxillary sinus. Symptoms and CT findings corresponded with silent sinus syndrome. Facial depression is a rare symptom in silent sinus syndrome and is well corrected by autologous fat transfer.

Nasal Stenosis Treated With a Composite Skin Graft.

A 58-year-old female patient was presented, who complained about breathing and aesthetic difficulties due to external nasal valve obstruction and nasal deformity that developed after nasal trauma surgery. Nasal stenosis recurs easily after surgery, especially if internal nasal stenosis is not adequately managed. Nasal stenosis in this case was well treated using a composite skin graft.

Retained Eyeglasses in the Orbital Cavity After Penetrating Facial Trauma.

This study describes a 68-year-old man who was presented to the emergency department with left orbital cavity penetration by his eyeglasses. The eyeglasses had entered the orbit and at presentation his eyesight could not be measured. The foreign body was extracted carefully and panfacial bone fractures were then reduced through lateral rhinotomy combined with a lip-splitting incision. When planning removal of an unusual foreign body from the orbital cavity, care should be taken not to injure the optic nerve, periorbital musculatures, or the eyeball.

Frontal Sinus Osteoplastic Flap Surgery Using a Surgical Navigation System.

OBJECTIVE: To report the case of a 38-year-old woman who underwent osteoplastic flap surgery for recurrent frontal sinus mucocele. During surgery, the exact shape of the frontal sinus was duplicated using a surgical navigation system. METHODS: In this case report, the authors suggest intraoperative surgical navigation systems are useful for accurately determining the dimensions of the frontal sinus for osteoplastic flap surgery. RESULTS: The patient underwent successful and safe osteoplastic flap surgery using a surgical navigation system. CONCLUSION: Surgical navigation is useful and safe for frontal sinus osteoplastic flap surgery.

Clinical characteristics of biofilms in patients with chronic rhinosinusitis: a prospective case-control study.

Recent studies have indicated that biofilms are involved in the pathogenesis of recurrent and recalcitrant chronic rhinosinusitis (CRS). The present study was performed to evaluate the presence of biofilms and to evaluate the relationships between the presence of biofilms and clinical features of CRS. A total of 33 patients were included in this study. Maxillary sinus mucosa from 26 CRS patients and the ethmoid mucosa from 7 patients undergoing septoplasty were collected. Biofilms were evaluated by scanning electron microscopy. Preoperative symptom scores, preoperative and intraoperative nasoendoscopic findings, and postoperative healing period were compared between the groups. Biofilms were detected in 14 (42.4 %) of the 33 patients. Biofilms were present in 13 (50 %) of the 26 patients in the CRS group, but in only one (14.3 %) of the seven patients in the control group. There were no significant differences in preoperative symptom scores or preoperative nasal Lund-Kennedy endoscopic scores between the groups. However, the average Lund-Mackay and intraoperative sinus Lund-Kennedy endoscopic scores were significantly higher in biofilm-positive than biofilm-negative patients (P < 0.05). In the follow-up period, the healing time was significantly longer in biofilm-positive than biofilm-negative patients (P < 0.05). This study suggested that the presence of bacterial biofilms may contribute to the pathogenesis of CRS and the clinical characteristics of CRS patients after endoscopic sinus surgery.

Effect of endoscopic marsupialization of paranasal sinus mucoceles involving the orbit: a review of 27 cases.

Paranasal sinus mucoceles (PSMs) can involve the orbit because the topographic anatomies of the paranasal sinuses and orbit are interrelated. We encountered 27 patients with PSMs involving the orbit that caused orbital symptoms. In this study, we evaluated the frequent symptoms and signs of PSMs involving the orbit, and report postoperative changes of orbital symptoms including the effects on visual acuity. A retrospective chart review, radiologic evaluation, and interviews were conducted after Institutional Review Board approval was obtained. Over the past 11 years, we encountered 27 patients with PSMs involving the orbit. We classified the patients according to orbital symptoms and PSM origin, and evaluated the surgical outcomes. A total of 27 patients (17 males and 10 females) with PSMs involving the orbit were included in the present study. The mean patient age was 51.0 ± 9.7 years (range 32-90) and the mean follow-up period was 20.5 months (range 2-84). Proptosis (15/27, 56%) was the most common symptom. Other common symptoms included orbital pain (9/27, 33%), decreased visual acuity or vision loss (9/27, 33%), and diplopia (7/27, 26%). All symptoms except for vision loss were improved by endoscopic marsupialization regardless of the disease period. Four out of five patients with decreased visual acuity experienced complete recovery. The remaining patient showed partial improvement after surgery. Four patients who were blind when they initially visited the hospital did not show any improvement after surgery. For PSM patients with decreased visual acuity, we can predict that vision will improve after surgery regardless of the disease duration. However, blindness will probably not resolve after endoscopic marsupialization. Even if the orbital symptoms (except for blindness) have persisted for a long time, surgery could still produce positive outcomes.

The effect of maxillary sinus irrigation on early prognostic factors after endoscopic sinus surgery: a preliminary study.

BACKGROUND: Sinus irrigation has been used to treat chronic rhinosinusitis refractory to medical and surgical treatments. The aim of this study was to evaluate the effect of maxillary sinus saline irrigation on the prevention of purulent rhinorrhea, extensive granulation formation, and polyp recurrence after endoscopic sinus surgery (ESS). METHODS: This prospective, controlled study was approved by the Institutional Review Board of Gachon University Gil Medical Center. Between August 1, 2011, and May 31, 2012, we recruited a total of 30 patients who underwent bilateral ESS. Group A was composed of 15 patients that were treated with bilateral maxillary sinus saline irrigation for 2 months after ESS. Group B was composed of 15 patients who were followed up during the same period after ESS. We checked for persistent purulent discharge, extensive granulation, and recurrent polyps in both groups to evaluate the effects of maxillary sinus irrigation on their prevention. RESULTS: Age, gender, and preoperative Lund-Mackay scores were not significantly different between the two groups (p > 0.05). In group A, one patient showed polyp recurrence. In group B, one patient showed extensive granulation tissue, two patients showed uncontrolled purulent discharge, three patients showed extensive granulation tissues and uncontrolled purulent discharge, and one patient showed recurrent polyps (p = 0.03). In addition, total endoscopic scores in the 3rd month were significantly different between groups A and B (p = 0.01). CONCLUSION: Maxillary sinus saline irrigation may be effective in the prevention of poor prognostic factors, such as persistent purulent discharge, at the early stages after ESS.

A new rat model for investigation of subglottic stenosis.

CONCLUSION: This study attempted to develop a new rat model of subglottic stenosis (SGS), resulting from subglottic mucosal injury administered by electrocauterization. Despite failure of the posterior SGS model, the anterior SGS model was considered feasible. OBJECTIVE: To investigate the feasibility of using rats as an animal model for SGS. METHODS: Thirty-seven female Sprague-Dawley rats were assigned to the control group or to the anterior or posterior subglottic injury group. Electrical cauterization was performed on the anterior or posterior 180° of the subglottic mucosa. Animals were euthanized at 4 weeks after injury. Histologic features of the subglottis were evaluated as regards changes in the subglottic lumen, lamina propria, cartilage, and epithelium after hematoxylin and eosin and Masson trichrome staining. RESULTS: Survival in the anterior injury group was 80% (13/15) until 4 weeks, and results of histologic evaluation showed an increase in thickness of lamina propria with fibrosis and cartilage damage, resulting in luminal narrowing. A high rate of mortality was observed in the posterior injury group.

Comparison of tonsillar biofilms between patients with recurrent tonsillitis and a control group.

CONCLUSION: The results of the study suggest that biofilms play a causative role in recurrent tonsillitis. OBJECTIVE: To analyze the association between tonsillar biofilms and recurrent tonsillitis. METHODS: The recurrent tonsillitis group comprised patients with a history of at least five episodes of tonsillitis per year over the previous 2 years. The control group comprised volunteers scheduled for laryngeal microsurgery with no history of tonsillitis over the previous 2 years. Between October 2009 and August 2010, specimens were obtained from 20 patients with recurrent tonsillitis and 20 volunteers (controls). Scanning electron microscopy (SEM) was used to confirm the presence of biofilms. Biofilms were graded at a magnification of ×500 by SEM and classified into five grades. The percentages of subjects affected and biofilm grades were compared between the recurrent tonsillitis and control groups. RESULTS: The two groups were matched for age and sex. SEM revealed that biofilms were significantly more prevalent in the recurrent tonsillitis group than in the control group. Furthermore, the biofilms in the recurrent tonsillitis group were of significantly higher grade than those in the control group.

Effect of Asian sand dust on mucin production in NCI-H292 cells and allergic murine model.

OBJECTIVE: To investigate the effect of Asian sand dust (ASD) on mucin production in human respiratory epithelial cells in vitro and in allergic murine nasal epithelial cells. STUDY DESIGN: Controlled, in vitro. SETTING: Academic research laboratory. MATERIALS AND METHODS: Human NCI-H292 cells were treated with ASD and analyzed by immunostaining, reverse transcriptase-polymerase chain reaction for MUC5AC mRNA expression, and Periodic Acid Schiff (PAS) staining. Forty female BALB/c mice were classified into 4 groups. Two groups were sensitized with ovalbumin (OVA), and 1 of these was treated with ASD (ASD+OVA). The 2 nonsensitized groups were treated with ASD or saline. Then the murine nasal mucosal tissues were evaluated by hematoxylin and eosin (H&E) staining, PAS staining, and immunostaining for MUC5AC and transforming growth factor (TGF)-α proteins. RESULTS: The numbers of MUC5AC-immunopositive NCI-H292 cells and PAS-positive NCI-H292 cells were significantly higher in the ASD-treated cells than in the control cells (P = .039 and P = .029, respectively). MUC5AC mRNA expression in the cells increased with increasing concentrations of ASD. In the murine nasal epithelial tissues, the numbers of eosinophils and PAS-positive cells were significantly higher in the ASD+OVA group than in the OVA group (H&E staining, P = .037; PAS staining, P = .019). At 2 weeks, the numbers of MUC5AC- and TGF-α-positive cells in the nasal epithelial tissue were significantly higher in the ASD+OVA group than in the OVA group (P = .031 and P = .033, respectively). CONCLUSION: ASD can induce mucin production in respiratory epithelial cells.

Comparison of 1-point fixation with 2-point fixation in treating tripod fractures of the zygoma.

PURPOSE: Zygomatic tripod fracture is relatively common and generally requires open reduction-internal fixation through several incisions. However, lateral eyebrow incisions have sometimes left unsightly scars, and thus we have used 1-point fixation through a buccogingival incision so as not to leave scars in selected cases. The aim of this study was to compare 1-point fixation in the zygomaticomaxillary (ZM) area with 2-point fixation in the ZM and frontozygomatic (FZ) areas in tripod fractures. MATERIALS AND METHODS: This study is retrospective and was approved by the institutional review board of our hospital. From November 2005 to March 2010, 30 patients were enrolled in this study. We investigated 14 patients with 1-point fixation in the ZM area (group 1), 1 of whom had bilateral tripod fractures, and 16 patients with 2-point fixation in the ZM and FZ area (group 2). We postoperatively checked for 1) unfavorable scars; 2) bony movement, pain, and palpability in the FZ area; 3) satisfaction with surgical outcomes; 4) presence or absence of surgeries for plate removal; and 5) anxiety about no fixation of the FZ area. RESULTS: Of 16 patients in group 2, 10 (63%) complained of unsightly scars in the lateral eyebrow incision site, whereas none of the patients in group 1 complained of external scarring. None of the patients complained of bony movement and pain in the FZ area in either group. In group 2, 4 of 16 patients (25%) complained of palpability in the FZ area, whereas none in group 1 complained of palpability. The satisfaction score for surgery was 9.4 ± 1.6 in group 1 and 7.7 ± 2.6 in group 2 (P < .05). Two patients underwent surgery for plate removal in group 2. None of the patients in group 1 complained of any cosmetic problems, with no fixation in the FZ area. CONCLUSIONS: One-point fixation in the ZM area in zygomatic tripod fractures can avoid unsightly scars and give high satisfaction with surgical outcomes in selected patients with tripod fractures.

The effect of expandable polyvinyl acetate packing for preventing stenosis of the frontal sinus ostium.

BACKGROUND: The aim of this study was to evaluate the effect of repeated expandable polyvinyl acetate (EPA) packing for preventing stenosis of the frontal sinus ostium after patients undergo functional endoscopic sinus surgery (FESS). METHODS: A nonrandomized, prospective study of 20 patients with chronic frontal sinusitis was conducted based on the Lund-Mackay scoring system. EPA was packed, for 3 days/week, in total, three times for 3 weeks, into the left frontal sinus ostium right after FESS. For the control, the right side frontal sinus ostium was left unpacked. After 6 months, the patency of the frontal sinus ostium was measured with a ruler under endoscopic guidance and the patency was classified as obstructed, stenotic, or patent according to the size. RESULTS: Obstruction developed in the right side in four patients and in the left side in two patients. Stenosis was found in the right side in eight patients and in the left side in one patient. The ostium of the frontal sinus was patent in the right side in 8 patients and patent in the left side in 17 patients. The sizes of the ostia were significantly different between the frontal sinuses on both sides 6 months after FESS (p < 0.05). CONCLUSION: The outcome of repeated EPA packing was favorable in patients undergoing FESS.

The effect of high-dose topical corticosteroid therapy on prevention of recurrent nasal polyps after revision endoscopic sinus surgery.

BACKGROUND: Topical corticosteroid spray is widely used after endoscopic sinus surgery (ESS) to reduce the recurrence of polyposis. However, it has not always shown satisfactory results in clinical practice. We compared the effects of topical spray and high-dose topical steroid gauze packing on the prevention of recurrent nasal polyps after ESS. METHODS: We selected 32 patients with recurrent nasal polyps after ESS. In group 1, 18 patients were treated with topical steroid spray and in group 2, 14 patients were treated with triamcinolone acetonide-soaked (40 mg) gauze packing once a week for 2 months after revision ESS. We observed the recurrence of polyps between the two groups for 12 months. RESULTS: Polyps recurred in 8 of 18 patients in group 1 compared with 1 of 14 patients in group 2 (p = 0.044). CONCLUSION: High-dose topical corticosteroid therapy may be more effective than low-dose topical therapy in preventing recurrent nasal polyps.

Clinical use of subjective visual horizontal and vertical in patients of unilateral vestibular neuritis.

OBJECTIVES: Subjective visual horizontal (SVH) and subjective visual vertical (SVV) used to assess otolith dysfunction and ipsilesional deviation of SVV and SVH in unilateral vestibular dysfunction is well known. The goal of this study was to investigate the clinical use of SVH/SVV and a dizziness scale in the clinical setting of acute unilateral vestibular neuritis. METHODS: Thirty-five patients with unilateral vestibular neuritis were investigated. Every patient was diagnosed by physical examination and electronystagmography. Subjective visual horizontal and SVV were assessed during the acute or subacute period; the Dizziness Handicap Inventory (DHI) and Vestibular Disorder Activities of Daily Living Scale (VADL) were used for a self-dizziness scale at the same time. All patients underwent rehabilitation therapy. Subjective visual horizontal/SVV and DHI/VADL were assessed again approximately 4 weeks later. Postrehabilitation SVH/SVV and DHI/VADL data were compared with initial data. RESULTS: Dizziness Handicap Inventory and VADL were improved after 4 weeks of rehabilitation, and the deviation toward ipsilesional side SVH and SVV was also improved. CONCLUSION: These results demonstrate that SVH and SVV correlated with clinical dizziness symptoms in patients with acute unilateral vestibular neuritis. Therefore, SVH and SVV would be useful tools for the evaluation of clinical manifestations of unilateral vestibular neuritis.

Polymorphism at the glutathione S-transferase P1 locus in Korean patients with perennial allergic rhinitis.

BACKGROUND: Oxidative stresses, which induce the reactive oxygen species (ROS), can cause airway inflammation. The glutathione S-transferases (GSTs) protect cells against the effects of ROS. GSTP1 polymorphism may have some effect on allergic rhinitis. Therefore, we have compared the effects of GSTP1 polymorphisms on the perennial allergic rhinitis in Koreans. METHODS: Patients with perennial allergies (149 patients) were selected. The control group included 156 healthy people. Genotypes were evaluated via polymerase chain reaction and restriction fragment length polymorphism, using the Alw26I restriction enzyme. RESULTS: There was no significant difference between groups in the proportions of the Ile/Ile (wild type) and Ile/Val (heterozygote) genotypes. However, the Val/Val (mutant type homozygote) was expressed in only one case (0.7%) in the perennial allergic rhinitis group, as compared with 11 cases (7.1%) in the controls (p < 0.05). CONCLUSION: Our results indicate that the Val/Val genetic polymorphism of GSTP1 may exert some protective effects in allergic inflammation.

Effect of mitomycin C on the size of antrostomy after endoscopic sinus surgery.

OBJECTIVES: Mitomycin C (MMC) is an antibiotic-antineoplastic agent that decreases fibroblast proliferation and scar formation. We aimed to evaluate the effect of MMC on the size of antrostomy and the mucociliary clearance rate. METHODS: We selected 20 patients with chronic sinusitis on both sides. After middle meatal antrostomy, we selected one side, and a piece of Merocel soaked with 1.5 mL of MMC (0.4 mg/mL) was applied for 5 minutes. On the other side, normal saline solution was applied for a control. The size of the antrostomy was measured serially after surgery with a ruler. Mucociliary clearance was assessed by the saccharin test. RESULTS: The effect of MMC in maintaining the size of the antrostomy was only significant during the first month. The relative size (the ratio of the remaining antrostomy area compared to the area in the immediate postoperative period) in the first month was significantly greater on the MMC-treated side than on the control side. The results of the saccharin test were not different between the two sides. CONCLUSIONS: Topical MMC application may have a short-term effect in maintaining the patency of the antrostomy site. However, it does not seem to improve the relative size over an extended period of time.

Comparison between polymerase chain reaction and fungal culture for the detection of fungi in patients with chronic sinusitis and normal controls.

CONCLUSION: PCR using panfungal gene primers is a more sensitive method for fungus detection than fungus culture, both in patients with chronic sinusitis and in normal controls. The presence of fungi alone, however, was insufficient to implicate them as pathogens in chronic sinusitis. OBJECTIVE: Previous findings have suggested that polymerase chain reaction (PCR)-based methods are more sensitive and reliable than conventional culture methods for the detection of fungal DNA. We therefore compared these methods in 82 patients with chronic sinusitis and 40 normal controls. MATERIAL AND METHODS: The noses of the subjects were irrigated with sterile saline, and the samples collected. The sediment from each irrigation was used for fungus culture and PCR analysis. RESULTS: PCR analysis using panfungal gene primers showed that 76/82 (92.5%) patients with chronic sinusitis and 39/40 (97.5%) normal controls were positive. In contrast, fungus cultures were positive in 19/82 (23.2%) patients with chronic sinusitis and 12/40 (30.0%) normal controls. We observed no significant between-group differences in the prevalence of fungus or in the fungal species detected.