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Objectives. To evaluate the factors that limit post-cochlear implantation (CI) speech perception in prelingually deaf children. Methods. Patients with CI were divided into two groups according to Category of Auditory Performance (CAP) scores 3 years post-CI: the poor performance group (poor performance group, CAP scores≤4, n=41) and the good performance group (good performance group, CAP scores≥5, n=85). The distribution and contribution of the potential limiting factors related to post-CI speech perception was compared. Results. Perinatal problems, inner ear anomalies, narrow bony cochlear nerve canal (BCNC), and intraoperative problems was significantly higher in the poor performance group than the good performance group (P=0.010, P=0.003, P=0.001, and P=0.045, respectively). The mean number of limiting factors was significantly higher in the poor performance group (1.98±1.04) than the good performance group (1.25±1.11, P=0.001). The odds ratios for perinatal problems and narrow bony cochlear nerve canal in the poor performance group in comparison with the good performance group were 4.878 (95% confidence interval, 0.067 to 0.625; P=0.005) and 4.785 (95% confidence interval, 0.045 to 0.972; P=0.046). Conclusion. This study highlights the comprehensive prediction of speech perception after CI and provides otologic surgeons with useful information for individualized preoperative counseling of CI candidates.

Aim The aim of this study was to investigate the effect of yttrium-90 radioembolization on the outcome of Asian patients with early to advanced stage hepatocellular carcinoma (HCC). Methods Sixty-two patients were screened and 50 patients (80.6%) were eligible. Response was evaluated using the Response Evaluation Criteria in Solid Tumors (RECIST), and overall survival was estimated using the Kaplan–Meier method. Results The Barcelona Clinic Liver Cancer (BCLC) stage was A in 40% of patients, B in 24%, and C in 36%; 66% of patients had hepatitis B virus infections. According to RECIST criteria, partial responses occurred in 40% of patients, and stable disease was achieved in 46%. Tumor response was significantly associated with BCLC stage (P = 0.003). The median overall time to progression was 5.8 months (range, 0.9–46.1 months). Follow-up treatments after radioembolization were carried out in 31 patients due to remnant HCC (n = 18) or HCC progression (n = 13). The median overall survival was 40.9 months (95% confidence interval, 10.2–71.6 months). Treatment was tolerable except for one lung toxicity and two hepatic toxicities. Conclusion Yttrium-90 radioembolization appears to be well tolerated and effective in Asian patients with BCLC stage A–C HCC. Follow-up treatments after radioembolization can be safely provided.

BACKGROUND AND AIM We aimed to subclassify hepatocellular carcinoma (HCC) using Barcelona Clinic Liver Cancer intermediate and advanced stages, which include a highly heterogeneous population. METHODS From two registries ("random" and "voluntary" cohorts in the Korean Liver Cancer Study Group), patients who were newly diagnosed as HCC with intermediate or advanced stage between 2003 and 2005 were considered eligible. Overall survival (OS) was analyzed using Kaplan-Meier method with comparison by log-rank test. RESULTS Patients with intermediate-stage HCC (n = 994) were subclassified according to tumor size and Child-Pugh class. Patients with tumor size

Objective We analyzed audiologic and surgical findings in patients with conductive hearing loss (CHL) with an intact tympanic membrane (TM) that was of a non-inflammatory origin. Methods We reviewed data from patients who underwent exploratory tympanotomy for CHL with intact TM from January 1995 to November 2012. Patients with diseases of non-inflammatory origin were enrolled (69 patients; 79 ears). Patients were categorized into two groups: non-trauma (50 ears) and trauma (29 ears). Demographic data, intraoperative findings, and audiologic results were obtained and analyzed. Results Overall, the second decade was the most common age of diagnosis in both the non-trauma and trauma groups. Operative findings showed that ossicular dislocation was more prevalent than ossicular fixation; all trauma group subjects had ossicular dislocation. Short columellization or partial ossicular replacement was the most frequently adopted surgical procedures in both groups. Overall, audiologically, air-conduction thresholds (ACs) and air–bone gaps were significantly improved over the short- and long-term period in both groups. However, the non-trauma group had significantly higher preoperative ACs than the trauma group, especially at low frequencies. Conclusion This study provides clinicians with useful information regarding the clinical characteristics of CHL with intact TM of non-inflammatory origin.

Cardiomyopathy is becoming the leading cause of death in patients with Duchenne muscular dystrophy because mechanically assisted lung ventilation and assisted coughing have helped resolve respiratory complications. To clarify cardiopulmonary function, we compared cardiac function between the home ventilator-assisted and non-ventilator-assisted groups.We retrospectively reviewed patients with Duchenne muscular dystrophy from January 2010 to March 2016 at Gangnam Severance Hospital. Demographic characteristics, pulmonary function, and echocardiography data were investigated.Fifty-four patients with Duchenne muscular dystrophy were divided into 2 groups: home ventilator-assisted and non-ventilator-assisted. The patients in the home ventilator group were older (16.25±1.85 years) than those in the nonventilator group (14.73±1.36 years) (Noninvasive ventilator assistance can help preserve cardiac function. Therefore, early utilization of noninvasive ventilation or oxygen may positively influence cardiac function in patients with Duchenne muscular dystrophy.

Intestinal metaplasia (IM), a premalignant lesion, is associated with an increased risk of gastric cancer. Although estrogen exposure, including tamoxifen, has been studied in correlation with gastric cancer, little has been investigated about its effects on IM.Therefore, we investigated whether chronic tamoxifen use was associated with the risk of IM in human stomach.We evaluated 512 gastric biopsies from 433 female breast cancer patients that underwent endoscopic gastroduodenoscopy (EGD) ≥6 months after breast surgery. Histopathological findings were scored according to the updated Sydney classification. Demographic and clinical characteristics were also included to identify predictive factors for IM.In a multivariate logistic regression analysis, age at EGD (odds ratio [OR], 1.04; P = 0.002), biopsies from antrum (OR 2.08; P0.001), and Helicobacter pylori positivity (OR 1.68; P = 0.016) were significantly associated with an increased risk of IM, whereas chronic tamoxifen use (≥3 months) was associated with a decreased risk of IM (OR 0.59; P = 0.025). After stratifying by biopsy site, association between tamoxifen use and IM persisted for corpus (OR 0.42; P = 0.026) but not for antrum (OR 0.74; P = 0.327). In analysis limited to patients with follow-up EGD, chronic tamoxifen use also correlated with improved IM score compared to no tamoxifen use (improved, 77.8 vs. 22.2%; no change, 65.4 vs. 34.6%; worsened, 30.0 vs. 70.0%; P = 0.019).This study suggests that chronic tamoxifen use can decrease the risk of IM in human stomach. The effect of tamoxifen is predominantly observed in the corpus.

In the present study, we report a new method of manganese enhanced magnetic resonance imaging (MEMRI) using intratympanic (IT) manganese administration. We explore Mn²⁺ uptake from the middle ear cavity into the cochlea through mechanically gated ion channels of the hair cell and also functional auditory tract tracing without the use of excessive auditory stimuli for a long time period outside the scanner. After manganese administration in animals with normal hearing and unilateral deafness, T1-weighted MR images were obtained for up to 48 h with a 3.0 T MR imager. In normal rats, the mean signal-to-noise ratio (SNR) at each region of interest on the auditory pathway was significantly higher in the IT injection group than in the intraperitoneal (IP) injection group (P

Hypertrophic pachymeningitis is a progressive disease resulting in a diffuse thickening of dura mater due to inflammation, tumor or autoimmune diseases, but most cases are idiopathic. It is seldom reported to be related to sensorineural hearing loss, but it can cause sensorineural hearing loss which can be potentially reversed through treatment. Here, we report the case of a 54-year-old woman who had progressive, bilateral, worse in the left, sensorineural hearing loss and visual disturbance with an accompanying headache over several months. Brain MRI showed diffusely thickened dura mater, highly enhanced after gadolinium administration, which was consistent with pachymeningitis. It was assumed to be related to autoimmune pathogenesis on the basis of elevated serum myeloperoxidase-antineutrophil cytoplasmic antibody (MPO-ANCA) titers. After empirical steroid and cyclophosphamide therapy, auditory impairment improved, especially in the high frequency region of the pure tone audiogram, and significant improvement in the word recognition test. Moreover, a follow-up MRI revealed much decreased enhancement of the dura mater, and the MPO-ANCA titer decreased to within the normal range. In the case of rapidly progressive sensorineural hearing loss or hearing impairment accompanying other cranial neuropathy, pachymeningitis should be taken into consideration, and brain MRI with gadolinium enhancement is the best method of detecting it. Also, to ensure proper treatment, a cautious evaluation including an ANCA work-up should be performed.

OBJECTIVE To determine normal values for the amplitude ratio of sensory nerve action potential (SNAP) from an ulnar sensory segmental nerve conduction study, and to the evaluate usefulness in the diagnosis of mild-degree ulnar neuropathy at the elbow (UNE). DESIGN Segmental sensory conduction study of the ulnar nerve was performed in 71 healthy subjects. Peak latency and baseline to peak amplitudes were measured. The amplitude ratio of below-elbow to wrist (BE/W) stimulations and above-elbow (AE) to below-elbow stimulations (BE) were calculated. Normal cutoff values were obtained by subtracting 2 SD from the mean value, and these values were applied to 22 symptomatic UNE cases. The amplitude ratio was also obtained in six subjects with C8 radiculopathy. RESULTS The amplitude ratios of BE/W and AE/BE were 0.61 +/- 0.08 and 0.82 +/- 0.08, respectively. The cutoff value of BE/W was 0.45, and that of AE/BE was 0.65. The amplitude ratio of BE/W showed a weak correlation to the length of the forearm segment (r = -0.25, P < 0.05). Five of the 22 UNE patients revealed only reduced amplitude ratios of SNAP across the lesion, whereas all the patients with C8 radiculopathy showed normal amplitude ratios of ulnar SNAP. CONCLUSIONS The amplitude ratio of ulnar SNAPs may be useful in the diagnosis of mild ulnar neuropathy with only sensory symptoms and normal segmental motor conduction.

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder that is characterized by branchial cysts or fistulae, external ear malformations and/or preauricular pits, hearing loss and renal anomalies. Recent advances in molecular genetics have shown a human homologue of the Drosophila 'eyes absent' gene (EYA1) on chromosome band 8q13.3 to be the most common cause of BOR syndrome. Several mutations have been identified in the EYA1 gene in patients with BOR syndrome worldwide. Here, we report a second Korean family with BOR syndrome with a novel nonsense EYA1 mutation.

The aim of this study was to investigate the efficacy of preoperative and intraoperative steroid administration for inner ear protection in cochlear implantation (CI). Nineteen subjects who underwent CI were included in the study, and 10 subjects were enrolled as controls (steroid-administered group, n = 19; control group, n = 10). Dexamethasone (dexamethasone sodium phosphate, 5 mg/ml) was systemically administered preoperatively (1 ml) and topically applied during CI (0.5 ml). The extent of hearing preservation (HP) after CI and the change in the bithermal caloric response were evaluated. Hearing level was calculated using mean thresholds [(250 Hz + 500 Hz + 1,000 Hz + 2,000 Hz)/4]. Preoperative hearing thresholds were similar in the steroid-administered and control groups (100.92 ± 12.60 vs. 103.29 ± 14.39 dB, p = 0.650). The mean thresholds significantly increased in both groups after surgery (108.46 ± 14.08 dB, p = 0.006, for the steroid-administered group; 117.50 ± 6.34 dB, p = 0.027, for the control group), and the difference between the groups was also significant (p = 0.027). The postoperative shift in the hearing thresholds at frequencies of 500 and 1,000 Hz was significant in the steroid-administered group and that at the frequencies of 500, 1,000 and 2,000 Hz was significant in the control group. However, the extent of the shift in hearing threshold levels at each frequency was not significantly different between the groups. Preservation of hearing thresholds was compared between the groups, and there were significantly more subjects with complete and partial HP in the steroid-administered group than in the control group (p = 0.008). The preoperative caloric response was maintained after CI in the steroid-administered group. This study suggests that the perioperative use of a steroid could minimize the inner ear damage after CI.

The prevention of noise induced hearing loss is very important, because there is no treatment for it. There are some kinds of devices for hearing protection, and those are effective in preventing a noise induced hearing loss. However, people often resist the use of hearing protection devices because it is difficult to have a conversation. Therefore, a hearing protection device is must effective not only in hearing protection but also in preserving communication ability. In this paper, we proposed a small acoustic filter for ITE type noise protector to solving the problem about the difficulties of conversation. That is applied a principle of acoustic filters that have been used for a muffler of automobiles, guns, and etc. To find out the sound transmission characteristic at the eardrum, we regarded an acoustic filter and external ear canal as a coupled system. So, we simulated the coupled system with OrCad, and experimented with a designed acoustic filter and a 2 cc coupler which has the same transmission characteristic as the external ear canal has. We confirmed that it is possible to adjustment acoustic transmission characteristics through simulation of electrical model for acoustic filter and external ear and experiments using designed small acoustic filters.

Diffusion tensor imaging is a new in vivo tool not only for the assessment of white matter structural integrity but also for diagnosis and assessment of disease conditions which disturb tissue structural coherence. In this study, we investigated the integrity of auditory pathway in patients of sensorineural hearing loss by means of fractional anisotropy of water diffusion to see any subtle changes of auditory pathways resulting from sensorineural hearing loss. In addition, this study suggests that the diffusion anisotropy measured by diffusion tensor imaging is highly sensitive to otherwise subtle disease processes not normally seen with conventional magnetic resonance imaging or computed tomography contrast.

Purpose Cardiomyopathy is becoming the leading cause of death in patients with Duchenne muscular dystrophy because mechanically assisted lung ventilation and assisted coughing have helped resolve respiratory complications. To clarify cardiopulmonary function, we compared cardiac function between the home ventilator-assisted and non-ventilator-assisted groups. Methods We retrospectively reviewed patients with Duchenne muscular dystrophy from January 2010 to March 2016 at Gangnam Severance Hospital. Demographic characteristics, pulmonary function, and echocardiography data were investigated. Results Fifty-four patients with Duchenne muscular dystrophy were divided into 2 groups: home ventilator-assisted and non-ventilator-assisted. The patients in the home ventilator group were older (16.25±1.85 years) than those in the nonventilator group (14.73±1.36 years) (P=0.001). Height, weight, and body surface area did not differ significantly between groups. The home ventilator group had a lower seated functional vital capacity (1,038±620.41 mL) than the nonventilator group (1,455±603.12 mL). Mean left ventricular ejection fraction and fractional shortening were greater in the home ventilator group, but the data did not show any statistical difference. The early ventricular filling velocity/late ventricular filling velocity ratio (1.7±0.44) was lower in the home ventilator group than in the nonventilator group (2.02±0.62). The mitral valve annular systolic velocity was higher in the home ventilator group (estimated β, 1.06; standard error, 0.48). Patients with Duchenne muscular dystrophy on a ventilator may have better systolic and diastolic cardiac functions. Conclusion Noninvasive ventilator assistance can help preserve cardiac function. Therefore, early utilization of noninvasive ventilation or oxygen may positively influence cardiac function in patients with Duchenne muscular dystrophy.

Contains fulltext : 155167.pdf (Publisher’s version ) (Closed access) Hereditary sensorineural hearing loss is an extremely clinical and genetic heterogeneous disorder in humans. Especially, syndromic hearing loss is subdivided by combinations of various phenotypes, and each subtype is related to different genes. We present a new form of progressive hearing loss with migraine found to be associated with a variant in the ATP1A2 gene. The ATP1A2 gene has been reported as the major genetic cause of familial migraine by several previous studies. A Korean family presenting progressive hearing loss with migraine was ascertained. The affected members did not show any aura or other neurologic symptoms during migraine attacks, indicating on a novel phenotype of syndromic hearing loss. To identify the causative gene, linkage analysis and whole-exome sequencing were performed. A novel missense variant, c.571G>A (p.(Val191Met)), was identified in the ATP1A2 gene that showed co-segregation with the phenotype in the family. In silico studies suggest that this variant causes a change in hydrophobic interactions and thereby slightly destabilize the A-domain of Na(+)/K(+)-ATPase. However, functional studies failed to show any effect of the p.(Val191Met) substitution on the catalytic rate of this enzyme. We describe a new phenotype of progressive hearing loss with migraine associated with a variant in the ATP1A2 gene. This study suggests that a variant in Na(+)/K(+)-ATPase can be involved in both migraine and hearing loss.

Background/aims This study was designed to determine whether bile aspiration before contrast injection cholangiogram prevent of post-ERCP cholangitis, liver function worsening, cholecystitis and pancreatitis. Methods One hundred and two patients in the bile aspiration group before contrast injection from December 1, 2008 to December 30, 2009 and 115 patients in the conventional control group from January 1, 2010 to June 30, 2010 were analyzed. The incidence of post-ERCP cholangitis, liver function worsening, cholecystitis, pancreatitis, and hyperamylasemia only were compared between these two groups. Results In the 102 patients with the bile aspiration group, post-ERCP cholangitis in 3 patients (2.9%), liver function worsening in 4 patients (3.9%), cholecystitis and pancreatitis in none, and hyperamylasemia only in 6 patients (5.8%) occurred. In the 115 patients with control group, post-ERCP cholangitis in 1 patient (0.4%), liver function worsening in 9 patients (7.8%), cholecystitis in none, pancreatitis in 3 patients (2.6%), hyperamylasemia only in 10 patients (8.6%) developed. The two groups did not significantly differ in terms of the incidence of post-ERCP cholangitis, liver function worsening, pancreatitis, and hyperamylasemia only (p>0.05). Conclusions Initially bile juice aspiration just before contrast injection into the bile duct rarely prevented post-ERCP cholangitis, liver function worsening, and pancreatitis in patients with the extrahepatic bile duct obstruction.

Pendred syndrome (PS) is an autosomal recessive disorder characterized by congenital bilateral sensorineural hearing loss, goiter, and incomplete iodide organification. Patients with PS also have structural anomalies of the inner ear such as enlarged vestibular aqueducts (EVA) and Mondini's malformation. The goiter, which is a major clinical manifestation of PS, usually develops around adolescence. PS is caused by biallelic mutations of the SLC26A4 gene, while nonsyndromic bilateral EVA is associated with zero or one SLC26A4 mutant allele. We report here a Korean family including a young female with PS who had goiter and progressive, fluctuating sensorineural hearing loss that could be partially recovered by oral steroid treatment. Genetic investigation revealed compound heterozygous mutations for p.R677AfsX11, a novel frameshift mutation, and p.H723R in the SLC26A4 gene. Our findings provide detailed information regarding the distribution of mutant alleles for PS and may serve as a foundation for studies to comprehend the genetic portion of syndromic hearing loss.

Noise induced hearing loss (NIHS) is caused by impaired hearing cells due to abrupt severe noise or continuous environmental noise. The prevention of NIHS is very important, because the impaired hearing cells are not recoverable. There are some kinds of devices for hearing protection, but people often resist the use of hearing protection devices because they have some difficulties during conversation in wearing devices. To solve that problem, a small acoustic filter can be used for hearing protector. In this paper, we analyzed the characteristics of small acoustic filters which vary according to change of length and diameter using Finite Element Analysis (FEA). From analysis results, transmission characteristics of the designed small acoustic filters are suitable for communication and the general tendencies are same as acoustic experiment results of small acoustic filters. Also, it can be accomplished that various transmission characteristics of small acoustic filters according to the characteristic of environment noise.

The authors performed two-stage ear reconstruction using autogenous costal cartilage alone or combined with canaloplasty of the acoustic meatus to improve the functional results with minimal operative stages.In the first stage, lobule transposition, fabrication of the cartilage framework, and implantation of the framework were performed. In the second stage, elevation of the auricle, coverage with the mastoid fascia flap and skin graft, and concha excavation were performed. Canaloplasty was combined simultaneously in 27 patients with radiologic and audiometric evidence of cochlear function.A total of 37 cases in 36 consecutive patients with microtia were treated. Results of external ear reconstruction were evaluated by ear contour, quality of detail, and projection of the ear. Thirty-three cases presented acceptable ear contour after ear reconstruction. Unfavorable results were lack of detail of the reconstructed auricle in two patients and deformation of the constructed helix in one patient. Six patients exhibited improved hearing over 30 dB pure-tone average and three patients exhibited improved hearing below 30 dB after canaloplasty in the concha type. In the lobule type, seven patients demonstrated a greater than 30-dB gain in pure-tone average, six patients demonstrated a gain below 30 dB, and there was no improvement in five patients. Complications related to canaloplasty were chronic drainage of the auditory meatus in three cases and meatal stenosis in six cases.The results of the contour of the reconstructed auricle with reduced operative stages combined with canaloplasty were acceptable to the patients. However, in lobule-type deformities, meticulous manipulation is necessary to reduce complications after canaloplasty.

Received August 19, 2014 Revised October 7, 2014 Accepted October 23, 2014 Address for correspondence Jeong Hun Jang, MD Department of OtorhinolaryngologyHead and Neck Surgery, School of Medicine, Kyungpook National University, 130 Dongdeok-ro, Jung-gu, Daegu 700-721, Korea Tel +82-53-420-5781 Fax +82-53-423-4524 E-mail jangjh@knu.ac.kr Background and ObjectivesZZThe aim of this study was to compare the degree of satisfaction of the patients, hearing loss type and severity, and satisfactory and unsatisfactory factors between closed fit hearing aid (HA) and receiver in the canal (RIC) HA. Subjects and MethodZZSeventeen patients with hearing loss participated in this study. All patients had used closed fit HAs prior to the study, with the ratio of those using in the canal (ITC) types and completely in the canal (CIC) types being 4:13. After a 2-week trial period of using RIC HAs, patients were evaluated for their satisfaction of using RIC HAs by filling out the questionnaire on the Korean version International Outcome Inventory for hearing aids (K-IOI-HA). ResultsZZThe visual analogue scale (VAS) score of closed fit HA was higher in the RIC-HAdissatisfied group (≤5, n=8) than in the RIC-HA-satisfied group (>5, n=9). The K-IOI-HA score of closed fit HA was higher than that of RIC HA in the RIC-HA-dissatisfied group and similar in the RIC-HA-satisfied group. Audiologically, air conduction and bone conduction thresholds at 500 Hz were lower in the RIC-HA-satisfied group than in the RIC-HA-dissatisfied group. In addition, the VAS score of RIC HA was negatively correlated with air and bone conduction thresholds and the K-IOI-HA score of RIC HA was positively correlated with speech discrimination score, whereas the VAS and K-IOI-HA scores of closed fit HA were not. ConclusionZZAmong the patients with closed fit HA, some patients indicated RIC HA to be suitable and showed intention to change. The HA should be prescribed firstly based on audiologic criteria, which could increase the subjective satisfaction and prevent poor compliance due to incongruity. Korean J Otorhinolaryngol-Head Neck Surg 2015;58(4):249-56

Chronic hepatitis B (CHB) infection is a major public health problem associated with significant morbidity and mortality worldwide. Twenty-three percent of patients with CHB progress naturally to liver cirrhosis, which was earlier thought to be irreversible. However, it is now known that cirrhosis can in fact be reversed by treatment with oral anti-nucleotide drugs. Thus, early and accurate diagnosis of cirrhosis is important to allow an appropriate treatment strategy to be chosen and to predict the prognosis of patients with CHB. Liver biopsy is the reference standard for assessment of liver fibrosis. However, the method is invasive, and is associated with pain and complications that can be fatal. In addition, intra- and inter-observer variability compromises the accuracy of liver biopsy data. Only small tissue samples are obtained and fibrosis is heterogeneous in such samples. This confounds the two types of observer variability mentioned above. Such limitations have encouraged development of non-invasive methods for assessment of fibrosis. These include measurements of serum biomarkers of fibrosis; and assessment of liver stiffness via transient elastography, acoustic radiation force impulse imaging, real-time elastography, or magnetic resonance elastography. Although significant advances have been made, most work to date has addressed the diagnostic utility of these techniques in the context of cirrhosis caused by chronic hepatitis C infection. In the present review, we examine the advantages afforded by use of non-invasive methods to diagnose cirrhosis in patients with CHB infections and the utility of such methods in clinical practice.

Purpose Post-polypectomy bleeding is the most common colonoscopic polypectomy complication. However, the risk of post-polypectomy bleeding in liver cirrhosis is unknown. We aimed to evaluate the risk of post-polypectomy bleeding in patients with liver cirrhosis. Materials and Methods We included 89 patients with liver cirrhosis who received colonoscopic polypectomy between January 2006 and October 2012. Three hundred forty-eight subjects without liver disease who underwent colonoscopic polypectomy comprised the control group. Risks of post-polypectomy bleeding were analyzed according to patient- and polyp-related factors. Results Among 89 patients, 75 (84.3%) were Child-Pugh class A, 10 (11.2%) were class B, and 4 (4.5%) were class C. Incidence of immediate post-polypectomy bleeding was significantly increased in cirrhosis with Child-Pugh class B or C compared to liver cirrhosis with Child-Pugh class A or control group [hazard ratio (HR) 3.5; p

Transient elastography (TE) of liver and hepatic venous pressure gradient (HVPG) allows accurate prediction of cirrhosis and its complications in patients with chronic liver disease. There is no study on prediction of minimal hepatic encephalopathy (MHE) using TE and HVPG in patients with cirrhosis.Consecutive cirrhotic patients who never had an episode of hepatic encephalopathy (HE) were enrolled. All patients were assessed by psychometry (number connection test (NCT-A and B), digit symbol test (DST), serial dot test (SDT), line tracing test (LTT)), critical flicker frequency test (CFF), TE by FibroScan and HVPG. MHE was diagnosed if there were two or more abnormal psychometry tests (± 2 SD controls).150 patients with cirrhosis who underwent HVPG were screened; 91 patients (61%, age 44.0 ± 11.4 years, M:F:75:16, Child's A:B:C 18:54:19) met the inclusion criteria. Fifty three (58%) patients had MHE (Child A (7/18, 39%), Child B (32/54, 59%) and Child C (14/19, 74%)). There was no significant difference between alanine aminotranferease (ALT), aspartate aminotransferase (AST) and total bilirubin level in patients with MHE versus non MHE. Patients with MHE had significantly lower CFF than non MHE patients (38.4 ± 3.0 vs. 40.2 ± 2.2 Hz, P = 0.002). TE and HVPG in patients with MHE did not significantly differ from patients with no MHE (30.9 ± 17.2 vs. 29.8 ± 18.2 KPas, P = 0.78; and 13.6 ± 2.7 vs. 13.6 ± 3.2 mmHg, P = 0.90, respectively).There was significant correlation of TE with Child's score (0.25, P = 0.01), MELD (0.40, P = 0.001) and HVPG (0.72, P = 0.001) while no correlation with psychometric tests, CFF and MHE.TE by FibroScan and HVPG cannot predict minimal hepatic encephalopathy in patients with cirrhosis.

Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can cause sensorineural deafness with goiter (Pendred syndrome, OMIM 274600) or NSRD with goiter (at the DFNB4 locus, OMIM 600791). H723R (2168A>G) is the most commonly reported SLC26A4 mutations in Korean and Japanese and known as founder mutation. We recently experienced one patient with enlarged vestibular aqueduct syndrome. The genetic study showed H723R homozygous in the proband and H723R heterozygous mutation in his family members. The identification of a disease-causing mutation can be used to establish a genotypic diagnosis and provide important information to both families and their physicians.

Osteogenesis imperfecta is a systemic heritable disorder of connective tissues with the predominant manifestation of spontaneous bone fractures. It features an abnormal biosynthesis of collagen with the formation of pathologic, immature collagen, resulting in a triad of brittle bones, blue sclera and hearing impairment. A 39-year-old woman with osteogenesis imperfecta began noticing hearing loss as a teenager. At the time of her presentation, she was aided by a hearing aid, which she had been using for 25 years but had not been benefited from. Her temporal CT shows severe otospongiosis, with radiolucent bone surrounding the cochlea. The patient underwent cochlear implantation to her left ear with no postoperative complication. She has obtained significant hearing improvement after the cochlear implantation. Cochlear implantation in cases of osteogenesis imperfecta with otospongiosis appears to be extremely rare and we present this case with a review of the related literature. (Korean J Otorhinolaryngol-Head Neck Surg 2009;52:289-92)

Background Hereditary hearing loss is one of the most common heterogeneous disorders, and genetic variants that can cause hearing loss have been identified in over sixty genes. Most of these hearing loss genes have been detected using classical genetic methods, typically starting with linkage analysis in large families with hereditary hearing loss. However, these classical strategies are not well suited for mutation analysis in smaller families who have insufficient genetic information. Methods Eighty known hearing loss genes were selected and simultaneously sequenced by targeted next-generation sequencing (NGS) in 8 Korean families with autosomal dominant non-syndromic sensorineural hearing loss. Results Five mutations in known hearing loss genes, including 1 nonsense and 4 missense mutations, were identified in 5 different genes (ACTG1, MYO1F, DIAPH1, POU4F3 and EYA4), and the genotypes for these mutations were consistent with the autosomal dominant inheritance pattern of hearing loss in each family. No mutational hot-spots were revealed in these Korean families. Conclusion Targeted NGS allowed for the detection of pathogenic mutations in affected individuals who were not candidates for classical genetic studies. This report is the first documenting the effective use of an NGS technique to detect pathogenic mutations that underlie hearing loss in an East Asian population. Using this NGS technique to establish a database of common mutations in Korean patients with hearing loss and further data accumulation will contribute to the early diagnosis and fundamental therapies for hereditary hearing loss.