Objective: We investigated the proportions of and reclassified BRCA1/2 variants of unknown significance (VUS) in Korean patients with epithelial ovarian, tubal, and primary peritoneal cancers. Methods: Data from 805 patients who underwent genetic testing for BRCA1/2 from January 1, 2006 to August 31, 2018 were included. The VUS in BRCA1/2 were reclassified using the 2015 American College of Medical Genetics and Genomics and the Association for Molecular Pathology standards and guidelines. Results: A BRCA1 pathogenic variant was found in 17.0% (137/805) of the patients, and BRCA1 VUS were found in 15.9% (128/805) of the patients. Further, 8.7% (69/805) of the patients possessed a BRCA2 pathogenic variant and 18.4% (148/805) of the patients possessed BRCA2 VUS. Fifty-three specific BRCA1 VUS were found and 20 were further reclassified as benign (n=11), likely benign (n=5), likely pathogenic (n=3), and pathogenic (n=1). The remaining 33 remained classified as VUS. For BRCA2, 55 specific VUS were detected; among these, 14 were reclassified as benign or likely benign, and 2 were reclassified as likely pathogenic. Among the 805 patients, 195 were found to have only VUS and no pathogenic variants (PV), and 41.5% (81/195) were reclassified as benign or likely benign, and 10.3% (20/195) as pathogenic or likely pathogenic variants. Conclusions Approximately 33.3% (36/108) of the specific BRCA1/2 variants analyzed in this study that were initially classified as VUS over a 13-year period were reclassified. Among these, 5.6% (6/108) were reclassified as pathogenic or likely pathogenic variants.

BACKGROUND AND OBJECTIVES: Vestibular evoked myogenic potentials (VEMP) have become a good diagnostic tool to evaluate the integrity of the vestibulocollic reflex. To investigate the standard recording of VEMP response in normal hearing subjects, the authors studied the effects of test positions and different acoustic stimulations on the VEMP. SUBJECTS AND METHOD: We performed VEMP on both ears of thirty normal hearing volunteers. Three acoustic stimulations (clicks and 500 Hz and 1,000 Hz short tone bursts) and four test positions were presented alternately to evoke VEMP. The latencies of peak p13 and n23, p13n23 interpeak latency (IPL) and amplitude were measured by EMG equipment and compared by statistical program. We also made up questions for the compliance of the test positions. RESULTS: The effects of test positions p13 latency had no significant difference on all test positions except between test position 2 and 4, n23 latency and p13n23 IPL had shortest waveform on test position 2, p13n23 amplitude had the largest waveform in test position 4. Acoustic stimulations on all test positions were influenced that clicks had shorter waveform about 2-3 ms than STBs on p13 latency and n23 latency, STBs had larger waveform than clicks on p13n23 amplitude. And the compliance of the test positions exhibited highest comfort in test position 1. CONCLUSION: Test position 1 had higher VEMP response rates and compliance, 500 Hz STB had a largest p13n23 amplitude. Therefore we recommend that the ideal conditions were position 1 and 500 Hz STB for acoustic stimulations to evoke VEMP.
Acoustics* ; Compliance ; Ear ; Hearing ; Reflex ; Vestibular Evoked Myogenic Potentials* ; Volunteers

Bronchopulmonary infections caused by trichomonads have been reported principally in patients with pre-existing pulmonary diseases, such as bronchial carcinoma, lung abscess, or bronchiectasis. Pulmonary trichomoniasis is most often caused by Trichomonas tenax, which is usually regarded as a harmless commensal organism of the human mouth. However, pulmonary infection may rarely be caused by other trichomonas species, including Trichomonas vaginalis from the genitourinary tract and Trichomonas hominis from the intestines. Because of the rarity of trichomonas pulmonary infection, and because of its close association with underlying lung and systemic disease, pulmonary trichomoniasis is considered an opportunistic infection. We recently treated a case of pulmonary trichomoniasis occurring in a young, healthy male without obvious underlying pulmonary or systemic illness. To our knowledge, there has been only one reported case of pulmonary trichomoniasis in Korea, and there have been only two reported cases of pulmonary trichomoniasis occurring in normal lung worldwide.
Bronchiectasis ; Carcinoma, Bronchogenic ; Humans ; Intestines ; Korea ; Lung ; Lung Abscess ; Lung Diseases ; Male ; Mouth ; Opportunistic Infections ; Polymers ; Trichomonas ; Trichomonas vaginalis

PURPOSE: To analyze the effect of allogeneic blood transfusion on clinical outcome in 119 patients with stage IIB cervical cancer who were treated with radiotherapy +/- chemotherapy. PATIENTS AND METHODS: Medical records were examined for hemoglobin levels before and during radiotherapy, history of allogeneic blood transfusions and the time point when transfusions were given. These factors were retrospectively analyzed along with other clinical risk factors for influences on the patients' clinical outcomes. RESULTS: Thirty-two patients (26.9%) received packed red blood cell transfusion (mean, 3.4 units; range, 1-12 units) before or during radiotherapy. Median follow-up period was 39.3 months (range, 7.6-58.4 months). Patients with history of transfusion showed poorer metastasis-free survival and a trend toward poorer overall survival than non-transfused patients. When patients who received transfusions were sub-divided by the time of transfusion, those who received transfusions before radiotherapy had significantly poorer clinical outcome than those who received transfusions during radiotherapy. In a multivariable analysis, patients with pretreatment transfusion showed a higher risk of distant metastasis (HR = 3.75, 95% CI: 1.28-12.15, p = 0.017) and decreased overall survival rates (HR = 4.62, 95% CI: 1.15-18.54, p = 0.031) compared with those of other patients. CONCLUSION: Our results suggest that allogeneic blood transfusions given before radiotherapy may be associated with higher incidence of distant metastases and decreased survival in patients with stage IIB cervical cancer.
Adult ; Aged ; Aged, 80 and over ; Anemia/etiology/therapy ; Blood Transfusion/*adverse effects ; Carcinoma, Squamous Cell/complications/radiotherapy/secondary/therapy ; Female ; Humans ; Middle Aged ; Prognosis ; Treatment Outcome ; Uterine Cervical Neoplasms/complications/*radiotherapy/*therapy ; Young Adult

PURPOSE: To report a case of phacoanaphylactic uveitis presenting as endophthalmitis. CASE SUMMARY: A 77-year-old woman presented with sudden visual disturbance and painful red right eye. She did not have a history of trauma or surgery in her right eye. Her best corrected visual acuity was hand movement in the right eye and log MAR 0.22 in the left eye; intraocular pressure was 27 mm Hg in the right eye and 15 mm Hg in the left eye. Slit-lamp examination revealed corneal edema and prominent inflammation with hypopyon in the anterior chamber. B-scan showed vitreous opacity behind the lens. Based on the diagnosis of endophthalmitis, anterior chamber paracentesis and irrigation were performed. After irrigation, a hypermature cataract with intact anterior capsule was observed. Therefore, we performed extracapsular cataract extraction and intravitreal antibiotics injection. Gram staining of the aqueous humor revealed numerous macrophages filled with lens protein but no organisms. She was treated with hourly topical corticosteroid and an antibiotic agent. One month later, the anterior chamber is clear, and the cultures remained negative. CONCLUSIONS: We report a case of spontaneous phacoanaphylactic uveitis presenting as endophthalmitis in a patient with no history of eye trauma or surgery.
Aged ; Anterior Chamber ; Anti-Bacterial Agents ; Aqueous Humor ; Cataract ; Cataract Extraction ; Corneal Edema ; Diagnosis ; Endophthalmitis* ; Female ; Hand ; Humans ; Inflammation ; Intraocular Pressure ; Macrophages ; Paracentesis ; Uveitis* ; Visual Acuity

BACKGROUND AND OBJECTIVES: To determine the clinical application of otoacoustic emissions (OAE) in screening of cochlear function, author studied changes of OAE in Meniere's disease patients. MATERIALS AND METHODS: The author has measured several parameters of OAE with 34 meniere's patients and 15 normal persons. Pass rate, response amplitude, reproducibility were recorded at TEOAE. Amplitude of DP-gram were measured at 2 F2 frequencies-1000, 2000 Hz. The input/output functions of DPOAE were recorded at 2 F2 frequencies -1001, 2002 Hz (respectively DP-1000, DP-2000). Input/output function were determined based on 2 parameters- maximal level and Detection threshold of DPOAE. RESULTS: 1) TEOAE: Significant lower rate of positive finding was recorded at involved ears (55.8%, 19/34) than normal ears (100%, 30/30). 2) DP-gram: At frequency was 2000 Hz, amplitude of involved ears (n=28, 6.3+/-.5 dB/SPL) was significant smaller than normal ears (n=30, 6.3+/-.5 dB/SPL). 3) DP-input/output function: At maximum DP level of DP-2000, response of involved ears (n=11, 51.6+/-.9 dB/SPL) was significant larger than normal ears (n=22, 48.5+/-.0 dB/SPL). CONCLUSION: Parameters of OAE, such as pass rate of TEOAE, amplitude of DP-gram at 2000 Hz, and maximum DP level of DP-2000 was considered to good indicators for monitoring cochlear function of Meniere's disease. Furthermore, evaluation by changes in the TEOAE & DPOAE combined parameters, appeared to be very useful for detection of subtle change in cochlear function of Meniere's disease.
Ear ; Humans ; Mass Screening ; Meniere Disease*

BACKGROUND AND OBJECTIVES: To determine the clinical application of otoacoustic emissions (OAE) in screening of cochlear function, author studied changes of OAE in Meniere's disease patients. MATERIALS AND METHODS: The author has measured several parameters of OAE with 34 meniere's patients and 15 normal persons. Pass rate, response amplitude, reproducibility were recorded at TEOAE. Amplitude of DP-gram were measured at 2 F2 frequencies-1000, 2000 Hz. The input/output functions of DPOAE were recorded at 2 F2 frequencies -1001, 2002 Hz (respectively DP-1000, DP-2000). Input/output function were determined based on 2 parameters- maximal level and Detection threshold of DPOAE. RESULTS: 1) TEOAE: Significant lower rate of positive finding was recorded at involved ears (55.8%, 19/34) than normal ears (100%, 30/30). 2) DP-gram: At frequency was 2000 Hz, amplitude of involved ears (n=28, 6.3+/-.5 dB/SPL) was significant smaller than normal ears (n=30, 6.3+/-.5 dB/SPL). 3) DP-input/output function: At maximum DP level of DP-2000, response of involved ears (n=11, 51.6+/-.9 dB/SPL) was significant larger than normal ears (n=22, 48.5+/-.0 dB/SPL). CONCLUSION: Parameters of OAE, such as pass rate of TEOAE, amplitude of DP-gram at 2000 Hz, and maximum DP level of DP-2000 was considered to good indicators for monitoring cochlear function of Meniere's disease. Furthermore, evaluation by changes in the TEOAE & DPOAE combined parameters, appeared to be very useful for detection of subtle change in cochlear function of Meniere's disease.
Ear ; Humans ; Mass Screening ; Meniere Disease*

BACKGROUND AND OBJECTIVES: A distortion product otoacoustic emission (DPOAE) is a non-invasive method which is commonly used to assess the hearing function of the cochlea and to reflect objective information of specific frequency in the cochlea. We hypothesize that after applying a broad band noise (BBN), the outer hair cell's function will change and cause reduction in the amplitude of DPOAEs and signal to noise ratio (SNR). SUBJECTS AND METHOD: We performed the examination on 40 subjects (80 ears) who have a normal hearing function. DPOAEs were recorded before and after BBN stimulation (intensity: 90 dB HL, duration: 10 minutes). RESULTS: After the BBN stimulation, the amplitude of DPOAEs and SNR were decreased at all frequencies. The amplitude of DPOAEs and SNR decreased 0.3-1.6 dB SPL, 0.6-1.5 dB SPL, respectively. Decreases in the amplitude had statistical significances after 3 and 6 minutes in 1 kHz, 3 and 6 minutes in 2 kHz, immediately after noise exposure, and after 3 and 6 minutes in 6 kHz. However, the SNR changes had statistical significance only after 3 minutes in 1 kHz. After the stimulation, pure tone threshold at 4 kHz increased 3.2+/-3.9 dB HL. After the BBN exposure, the amplitude of DPOAEs and SNR decreased at all frequencies and most of them recovered within 12 minutes. CONCLUSION: These results suggest that DPOAE could be a clinically useful method for the purpose of screening, managing and assessing the prognosis of acoustic trauma and noise induced sensorineural hearing loss.
Auditory Fatigue ; Cochlea ; Hair ; Hearing ; Hearing Loss, Noise-Induced ; Hearing Loss, Sensorineural ; Mass Screening ; Noise ; Prognosis ; Signal-To-Noise Ratio

BACKGROUND AND OBJECTIVES: Stapedial reflex (SR) threshold is of considerable diagnostic significance in the evaluation of audiological function, especially under sedation or general anesthesia since anesthetic drugs often act on neurotransmitters or neuromodulators. The aim of this study was to evaluate the changes in the SR threshold according to the depth of anesthesia. SUBJECTS AND METHOD: Sixty patients with normal hearing who were scheduled for operation under general anesthesia were included in this study. Anesthetic agent used was propofol and the depth of anesthesia was monitored by the bispectral index (BIS). SR was measured five times according to depth of anesthesia. RESULTS: Both ipsilateral and contralateral SR thresholds were increased according to the depth of anesthesia using propofol. In particular, ipsilateral SR showed no response at BIS 60 and contralateral SR at BIS 40. However, there were no significant differences between age groups and gender. CONCLUSION: Propofol significantly increased both ipsilateral and contralateral SR threshold according to depth of anesthesia. When it is necessary to measure SR under general anesthesia, we should consider the effect on SR threshold according to the depth of anesthesia.
Anesthesia ; Anesthesia, General ; Anesthetics ; Cellulose ; Hearing ; Humans ; Neurotransmitter Agents ; Propofol ; Reflex ; Reflex, Acoustic

BACKGROUND AND OBJECTIVES: Recurrent laryngeal papillomatosis (RRP) have been divided into juvenile or aggressive forms, and adult or non-aggressive forms. This study attempted to characterize these two forms of RRP in our series and to detect human papilloma virus (HPV) using polymerase chain reaction (PCR). MATERIALS AND METHOD: Authors reviewed the records of 60 patients treated for RRP over a 16-year period from 1983 to 1999 at the Department of otolaryngology, Pusan National University Hospital. Clinical parameters included sex, age, chief complains, location and type of lesion, tracheotomy state, number of operation, aggressiveness, outcome of treatment and complications after operation. Twenty-three paraffinembedded tissues were selected to PCR using type-specific primer pairs. RESULTS: 1) Subglottic extension, tracheotomy, time of operation and aggressiveness were more common in juvenile form than the adult form. 2) The multiple type was also common in the adult form. 3) Non-aggressive and single types showed better response for treatment. 4) There are no significant differences of cure rate according to age and treatment modality, but preoperative alpha-interferon therapy showed more effective in the case of compromised airway. 5) HPV type 6, 11 in 10 cases(43.5%) were detected out of 23 cases. Most detected cases were non-improvement group. CONCLUSION: The significant difference of treatment results are found in comparison between aggressive and non-aggressive forms and alpha-interferon may be an effective therapy for aggressive respiratory papillomatosis. HPV subtype may be related to the prognosis factor.
Adult ; Busan ; Humans* ; Interferon-alpha ; Otolaryngology ; Papilloma* ; Polymerase Chain Reaction* ; Prognosis ; Tracheotomy