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.

Treatment of Facial Neuralgia Developed after Inferior Meatal Antrostomy by Narrowing of the Inlet with Endoscopic Cartilage Graft

Inferior meatal antrostomy (IMA) is a widely performed surgical technique to treat postoperative maxillary mucocele. The method is safe and easy to perform, without major complications compared with other approaches. Facial pain after IMA is a rare clinical entity that can be challenging to diagnose and treat. The authors present an unusual case of acute facial neuralgia triggered by cold air that developed after IMA. The antrostomy was located at the anterior-most part of the inferior meatus, and the inlet size was relatively large compared with the size of the remaining sinus. Surgical narrowing of the antrostomy inlet using endoscopy dramatically reduced the symptoms, and symptom relief was maintained for up to one year after surgery.

Common Sites, Etiology, and Solutions of Persistent Septal Deviation in Revision Septoplasty

OBJECTIVES: To investigate the common causes of persistent septal deviation in revision septoplasty and to report the surgical techniques and results to correct them. METHODS: A total of 100 consecutive patients (86 males) who had revision septoplasty due to persistent septal deviation from 2008 and 2014 were included in the study. Their mean age was 35.6 years and the mean follow-up duration was 9.1 months. Presenting symptoms, sites of persistent septal deviation, techniques used to correct the deviation, and surgical results were reviewed. RESULTS: The mean interval between primary and revision surgery was 6.2 years. Forty-eight patients received revision septoplasty and 52 received revision septoplasty combined with rhinoplasty. Nasal obstruction was the most presenting symptom in almost all patients. The most common site of persistent septal deviation was middle septum (58%) followed by caudal septum (31%). Correcting techniques included further chondrotomy and excision of deviated portion in 76% and caudal batten graft in 39%. Rhinoscopic and endoscopic exams showed straight septum in 97% and 92 patients had subjective symptom improvement postoperatively. CONCLUSION: Middle septum and caudal septum were common sites of persistent deviation. Proper chondrotomy with excision of deviated middle septum and correction of the caudal deviation with batten graft are key maneuvers to treat persistent deviation.

Evaluation and Treatment of Nasal Obstruction Developed after Rhinoplasty / 대한이비인후과학회지

Nasal airway obstruction is one of the most frequent causes of revision rhinoplasty despite the golden rule that nasal function should not be sacrificed because of cosmetic reason. Nasal function is jeopardized due to diverse reasons including inaccurate diagnosis or inadequate surgical technique. Detailed and thorough evaluation of the nose with review of previous operative technique is necessary to find out exact causes of obstruction. Septum, middle vault, tip, nostril, and nasal mucosa are common anatomic areas of obstruction after rhinoplasty. They are often weakened, damaged, or even destroyed losing their original shape, strength, or position. Changes in these anatomic structures are strongly related to static and/or dynamic obstruction. In this article, authors reviewed the common locations, anatomic causes, and treatment strategies of nasal obstruction after rhinoplasty.

Reconstruction of Subtotal Nasal Defect with Radial Forearm Free Flap and Forehead Flap: A Case Report

Reconstructive rhinoplasty is one of the unique areas of rhinoplasty, but its concept and technique have not been widely established in Korea compared to cosmetic rhinoplasty. Nasal reconstruction poses a challenging problem when the defect is large and involves all 3 layers of the nose including the septum. We report a patient who underwent nasal reconstruction due to subtotal, full thickness defect of the nose after repeated failed rhinoplasties including use of a nasolabial flap. A staged operation was planned. First, a radial forearm free flap was used to reconstruct the inner layer. After 4 months, the bulk of the forearm tissue was reduced and used as inner lining at the second operation. In the second operation, the framework of the lower 2/3 of the nose was formed of autologous rib cartilage, and the outer skin defect was covered with a forehead flap. Six weeks later, the forehead flap was divided. One year after the last operation, the patient can breathe well, and his nose has better esthetics than before surgery. We believe this is the first report of nasal reconstruction using a radial forearm free flap and a forehead flap to restore a subtotal, full thickness defect of a nose.

Three Cases of Hereditary Hemorrhagic Telangiectasia Treated with Bevacizumab / 대한이비인후과학회지

Hereditary hemorrhagic telangiectasia (HHT) is a hereditary, autosomal dominant, vascular dysplasia characterized by mucocutaneous telangiectasia, epistaxis, gastrointestinal bleeding, and iron deficiency anemia. Epistaxis in HHT is a recurrent and debilitating symptom, which is difficult to manage. Many methods have been tried with little success. Bevacizumab (Avastin®), a VEGF inhibitor, has been recently tried intranasally or systemically to control the recurrent epistaxis. We report three patients with HHT who were treated with intranasal bevacizumab application together with cauterization. In all three patients, recurrent epistaxis decreased considerably with improvement in quality of life. Here we describe the application methods, treatment results, and complications with literature review. We believe that this is the first report of treating epistaxis in HHT with intranasal application of bevacizumab in South Korea.

Cryopreservation of Cartilage for Transplantation in Rhinoplasty: A Literature Review / 대한이비인후과학회지

Although many rhinosurgeons still use cryopreserved septal or rib cartilage for grafts in rhinoplasty, there is no consensus whether it is an effective method preserving the chondrocyte viability. To propose a best option in the ex-vivo preservation of cartilage by literature review. A critical review of the published literature using PubMed, EMBASE, and Cochrane Central Register of Controlled Trials (CENTRAL) with particular emphasis on studies which include cartilage cryopreservation was performed. Using databases, articles published from 1956 through 2011 for all available studies reporting cryopreservation of cartilage were investigated. Keywords used in this search were "cryopreservation", "nasal cartilage", "articular cartilage", "chondrocytes", and "rhinoplasty". We could confirm that isolated chondrocytes can be effectively cryopreserved, yet the survival of chondrocytes in cryopreserved intact cartilage tissue is inadequate and extremely variable. Hypothermic preservation of intact cartilage in culture media showed good cell viability and function up to 2 weeks only. Though it is possible to cryopreserve one cell-layer tissue with the preservation of a high percentage of the initial cells, successful methods for cryopreservation of whole cartilage have not been achieved despite numerous efforts world-wide. Preserving the whole cartilage tissue at 4℃ in culture media proved that the tissue showed good viability with metabolic activity for 2 weeks.

Clinical Implications of Septal Deviation in Lateralized Olfaction

OBJECTIVES: Results of butanol threshold tests (BTTs) have shown that birhinal olfaction tends to converge toward monorhinal olfaction of the dominant nostril. However, birhinal olfaction may also be worse than dominant-side monorhinal olfaction. The goal of our study was to investigate the effect of deviated nasal septum on birhinal olfaction in patients with lateralized olfaction and to examine the effect of septoplasty in these patients. METHODS: A retrospective study with planned data collection was conducted in 518 patients who underwent BTTs. Lateralized olfaction was defined as monorhinal BTT scores that differed by >2 between sides. Underestimated birhinal olfaction was defined as a birhinal BTT score >2 lower than the dominant nostril monorhinal BTT score. Patients with lateralized olfaction were divided into 2 groups: group 1, underestimated birhinal olfaction; and group 2, without underestimated birhinal olfaction. RESULTS: Among 518 patients, 112 with lateralized olfaction were enrolled in this study. Group 1 included 23 patients (20.5%) and group 2 included 89 patients (79.5%). The severity of septal deviation (ratio of the distance of narrower side to wider side) did not differ between the 2 groups. Septal deviation to the dominant nostril was more common in group 1 than group 2 (73.9% vs. 37.6%; P=0.002). Five patients with septal deviation to the dominant nostril with underestimated birhinal olfaction underwent septoplasty. Improved lateralized olfaction occurred in all 5 patients postoperatively (P=0.041). CONCLUSION: Septal deviation of the dominant nostril in patients with lateralized olfaction is associated with underestimated birhinal olfaction. Septoplasty may improve olfaction by increasing airflow in the dominant olfactory side.

Combined Endoscopic Sinus Surgery and Rhinoplasty: Efficacy and Limitation / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: Combined endoscopic sinus surgery (ESS) and rhinoplasty may benefit patients but can pose a considerable task to the surgeon at the same time. The aim of this study is to analyze the surgical outcomes of the concurrent ESS and rhinoplasty with emphasis on the efficacy and limitation. SUBJECTS AND METHOD: Consecutive 21 patients who underwent concurrent ESS and rhinoplasty (combined group) were identified. For comparison, rhinoplasty group who had only rhinoplasty and ESS group who had only ESS over the same period were selected. Medical records, endoscopic findings, and CT scans were reviewed. A telephone survey was done to evaluate subjective outcomes of the surgery. Objective aesthetic outcomes of rhinoplasty were evaluated by comparing the preoperative and postoperative photos by two rhinoplasty surgeons. RESULTS: In the combined group, ten patients (24%) had ESS-related complications and one patient (5%) had rhinoplasty-associated complications. On the other hand, only one patient (5%) had recurred rhinosinusitis in the ESS group but three patients (14%) had complications including revision surgery in rhinoplasty group. Subjective functional satisfaction score after ESS and subjective aesthetic satisfaction score after rhinoplasty did not show any significant difference between the combined group and each matching group. Objective aesthetic evaluation did not show any difference either. CONCLUSION: Concurrent ESS and rhinoplasty have similar subjective functional improvement and objective surgical outcome compared with ESS alone or rhinoplasty alone. However, concurrent surgery had a tendency to show poorer surgical outcome in ESS than in rhinoplasty warranting a cautious approach with patient selection.

Otorhinolaryngologic Application of Stem Cells

Stem cells can be isolated from almost any tissue in the body and are capable of proliferating in an undifferentiated manner and, under appropriate inductive conditions, differentiating into multiple cell lineages. Numerous studies are being conducted around the world using stem cells in various medical fields, including otorhinolaryngology. This review provides a brief overview of the method used for human stem cell isolation, the current status of clinical applications in the field of otorhinolaryngology as well as in general medicine, and lastly, suggests the future potential of stem cells in otorhinolaryngologic surgery. Within the field of otorhinolaryngology, stem cells have been clinically used or studied in four main areas: bony framework reconstruction, soft tissue augmentation, cartilage repair and wound healing. Outcomes of stem cell application appear promising; however, further basic research and clinical studies with longer follow-up periods are needed to develop safe and successful clinical applications.

Simultaneous Sliding Osteotomy Genioplasty and Rhinoplasty / 대한이비인후과학회지

Chin retrusion and micrognathia are deformities that are commonly encountered in patients desiring rhinoplasty. Augmentation genioplasty in these patients improves the profile and enhances cosmetic result of rhinoplasty. For chin augmentation, either sliding osteotomy or implant insertion can be used. In alloplastic chin augmentation, rejection, infection of the materials, or resorption of the mandible can be a major problem. Horizontal sliding osteotomy of the mandibular symphysis with advancement of the mobilized segment can be the technique of choice to avoid these disadvantages. Here we report 2 cases of acquired nasal deformity and chin retrusion treated with simultaneous rhinoplasty and sliding genioplasty with a brief literature review.

Clinical Characteristics and Comorbidities of Hereditary Hemorrhagic Telangiectasia / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: Hereditary hemorrhagic telangiectasia (HHT), often manifested as epistaxis, is also manifested in combination with serious comorbid diseases. The authors reviewed 12 cases of HHT and investigated the manifestations and comorbid diseases of HHT in the Korean population. SUBJECTS AND METHOD: Medical records of the HHT patients in our department from July 2004 to December 2011 were reviewed retrospectively. Twelve patients who had been classified as definite or possible HHT according to the Curacao criteria were enrolled in this study. Clinical manifestations, treatment methods, results, and comorbid diseases were investigated. RESULTS: Recurrent epistaxis occurred in 100% of the patients. Epistaxis was managed by bipolar or laser cauterization (n=9), embolization of the feeding vessel (n=1), intranasal application of bevacizumab (Avastin(R))(n=2) or septodermoplasty (n=1). The symptoms of seven patients showed much improvement while the other two did not. Comorbid diseases included pulmonary arteriovenous malformation (AVM) in 5 patients (41.7%) and cerebral AVM in 2 patients (16.7%). Three patients with pulmonary AVM received embolization and one patient with cerebral AVM received gamma knife surgery with good prognosis. CONCLUSION: Epistaxis by HHT can be improved by active treatment using various methods. Pulmonary and cerebral AVMs are common comorbid diseases and should be considered in the management of HHT.

Frequently Used Grafts in Korean Rhinoplasty: Nomenclature and Definitions / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: No definite concepts or nomenclature have yet been established in Korean for a number of different grafts used frequently in Korean rhinoplasty. The aims of this study were to define indications and usages of grafts frequently used in Korean rhinoplasty and to suggest appropriate Korean nomenclatures for these grafts. MATERIALS AND METHOD: We prepared diagrams and explanations for the grafts frequently used in rhinoplasty in Korea and suggested Korean nomenclature that were considered the most appropriate. We carried out a survey on the rhinoplasty experts in order to reach a consensus on the nomenclature. We also reviewed recent Korean articles on rhinoplasty to investigate how names of each graft had been translated into Korean nomenclature. RESULTS: We classified grafts according to anatomical locations; the nasal dorsum, the nasal tip, the alar region, and the alar base. Grafts of the nasal dorsum included radix graft, dorsal onlay graft, dorsal sidewall onlay graft, and spreader graft. Grafts of the nasal tip were the columellar strut, shield graft, buttress graft, cap graft, and septal extension graft. The alar batten graft, alar rim graft, composite alar rim graft, lateral crural onlay graft, and lateral crural strut graft belonged to grafts of the alar region. Grafts of the alar base included the columellar plumping graft, premaxillary graft, and alar base graft. The names of all these grafts were translated into Korean. CONCLUSION: We set definitions, indications, and usages of each graft, and suggested the most appropriate Korean nomenclature. We hope that this nomenclature can be widely accepted and used in future papers and books on Korean rhinoplasty.

Usefulness of Intraoperative Computed Tomography in Facial Bone Fracture Repair and Sinus Surgery / 대한이비인후과학회지

BACKGROUND AND OBJECTIVE: The usefulness of intraoperative CT (iCT) in rhinologic surgery including reduction of facial bone fracture and sinus surgery was evaluated. SUBJECTS AND METHOD: Medical records and radiological findings of 17 patients who took iCT at the Medical Center between December 2008 and February 2010 were reviewed retrospectively. The mean follow-up period was 2.2 months. The 17 patients included 14 facial bone fractures and three sinus surgeries. Indications for iCT and the need for additional procedure after iCT were investigated. All operations were performed by the senior author. RESULTS: Indications for iCT were comminuted nasal bone fracture with or without septal fracture, displaced zygoma fracture and orbital blowout fracture. The complex frontal sinus anatomy either by anatomic variation or tumor invasion was an indication for iCT in sinus surgery cases. Additional surgeries were necessary after iCT for five patients (29.4%) as follows: nasal bone reduction (2), zygomatic bone reduction (1), and the removal of meningioma (1) and inverted papilloma (1). Except for one patient, all patients showed satisfactory surgical outcomes in terms of completeness of fracture reduction or surgical removal of sinus pathology. CONCLUSION: In complex facial bone fracture or sinus diseases, an iCT helps to evaluate the completeness of fracture reduction or sinus dissection during the surgery and to decide the necessity for further surgery.

Surgical Correction of Dynamic Nasal Valve Collapse / 대한이비인후과학회지

Collapse of the nasal valve is a rare cause of nasal obstruction in Asians, though it is relatively common in Caucasians. The thick skin and wide internal nasal valve angle were considered to contribute to the rarity of this entity. However, it does exist in Asians, especially who have thin skin and weak, collapsible nasal cartilages. The authors treated 2 patients with dynamic nasal valve collapse with cartilage grafts reinforcing the epicenter of valve collapse. This paper presents 2 cases of dynamic nasal valve collapse and introduces surgical maneuvers which were successfully applied to these cases.

Effect of Staphylococcal Enterotoxin on the Development of Allergic Rhinitis in Mice

BACKGROUND AND OBJECTIVES: The aim of this study is to investigate the role of staphylococcal enterotoxin B (SEB) in the development of allergic rhinitis. MATERIALS AND METHODS: Nasal mucosa and serum were obtained from sensitized mice and control groups, and the frequencies of allergic symptoms, such as sneezing and nasal rubbing, were counted. Eosinophil counts in the nasal mucosa were compared between the study groups. The serum levels of ovalbumin-specific IgE were measured by ELISA. Differences between the sensitized and control groups were statistically analyzed using the Kruskal-Wallis test and the Mann-Whitney U test. RESULTS: The frequencies of sneezing and serum levels of ovalbumin-specific IgE were significantly higher in the groups locally sensitized with SEB than in the control group. On the other hand, they sneezed less frequently and showed lower serum levels of ovalbumin-specific IgE than those in the group locally sensitized with ovalbumin. CONCLUSION: SEB may participate in the pathogenesis of allergic rhinitis although it is a less potent inducer than ovalbumin.

The Surgical Outcome of Endoscopic Dacryocystorhinostomy According to the Obstruction Levels of Lacrimal Drainage System

OBJECTIVES: Many factors influence the outcome of endoscopic dacryocystorhinostomy (DCR). One of the most important prognostic factors is the level of obstruction in the lacrimal drainage system. The main objective of this report is to evaluate both the frequency of obstruction by anatomical region of the lacrimal drainage system on dacryocystography (DCG) and the surgical outcome of endoscopic DCR according to the obstruction level. METHODS: A retrospective series of 48 patients (60 eyes) who had undergone endoscopic DCR from January 2005 to November 2007 were enrolled. Preoperative evaluation consisted of a standard examination which included lacrimal irrigation, probing, DCG and osteomeatal unit (OMU) computed tomography. Patients were classified into four groups according to the obstruction level on DCG. Surgical outcome was evaluated postoperatively by subjective improvement of epiphora and patent rhinostomy opening on nasal endoscopic exam. RESULTS: Of 60 eyes, the levels of obstruction were the common canaliculus in 14 eyes (23.3%), the lacrimal sac in 13 eyes (21.7%), the duct-sac junction in 13 eyes (21.7%) and the nasolacrimal duct (NLD) in 20 eyes (33.3%). The ductsac junction obstruction was treated most successfully (100%), followed by NLD obstruction (90%), common canaliculus obstruction (78.6%) and saccal obstruction (69.2%). CONCLUSION: In patients with lacrimal drainage system obstruction, preoperative evaluation of obstruction level using DCG may be helpful for predicting the surgical outcome of endoscopic DCR. The saccal obstruction may have a worse prognosis than the other obstruction levels.

Endoscopic Reduction of Anterior Wall Frontal Sinus Fractures: A Case Report / 대한이비인후과학회지

Traditionally, the repair of displaced anterior wall fractures of the frontal sinus has involved open reduction and internal fixation. Recent development of instrument and techniques for endoscopic brow-lifting has allowed access to anterior wall fractures of the frontal sinus without the need for a coronal incision. A 32-year-old man presented with a depressed anterior wall of the frontal sinus and underwent endoscopic reduction of the fracture. Through two small incisions above the hairline, an endoscope and instruments were inserted after the elevation of the forehead skin over the depressed anterior wall. Depressed bone fragments were successfully reduced with a bone hook inserted through a small incision over the forehead. The authors report this case with a brief literature review focusing on the endoscopic reduction of the anterior wall fracture of the frontal sinus.

Delayed Reduction of Pure Medial Blowout Fracture of the Orbital Wall / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: The timing of surgery is an important consideration point in the management of blowout fracture (BOF) of the orbit. This study aimed to compare the surgical outcome of early and delayed reduction and to suggest the best timing of surgery in the pure medial BOF of the orbit. SUBJECTS AND METHOD: Fifty-two patients who had endoscopic endonasal reduction of medial BOF were studied retrospectively. Patients were divided into an early group (N=42) who had surgery within one month after the trauma and a delayed group (N=10) who had surgery after one month from the trauma. Surgical indications, results of the surgery, and complications were compared between the two groups. RESULTS: The surgical indications in the early group were persistent diplopia, large defect expecting later enophthalmos and limitation of EOM, whereas the delayed group complained mainly of enophthalmos and diplopia. There were no significant differences in surgical outcomes and the rate of complications between the two groups. CONCLUSION: When patients with pure medial BOF have large defects without any persistent diplopia and limitation of EOM, surgery would be safely deferred until significant enophthalmos occurs.

Septoplasty; Current Concept and Technique

Septoplasty is one of the most commonly performed operations in Otolaryngology. It is often considered an easy operation. Yet it is still accompanied by a relatively high rate of failure and complications. It is definitely not an operation in which one surgical technique can suffice for all circumstances. Rather it requires a variety of techniques in accordance to the various septal pathologies in order to achieve a favorable outcome. This study provides a comprehensive review of septoplasty including current concepts, historical background, classification, updated surgical techniques, and management of complications. In particular, the surgical techniques that ensure a successful correction and minimal complications are highlighted.