Gap junctions, which mediate rapid intercellular communication, consist of connexins, small transmembrane proteins that belong to a large family of proteins found throughout the species. Mutations in the GJB2 gene, encoding Connexin 26, can cause nonsyndromic autosomal recessive or dominant hearing loss with or without skin manifestations. A 3-yr-old Korean female and her mother presented to our clinic with diffuse hyperkeratosis of the palms and soles (May 3, 2007). Skin biopsies from the soles of both patients demonstrated histopathological evidence of palmoplantar keratoderma. The patient and a number of her maternal family members also had congenital hearing loss. The combination of congenital hearing loss and palmoplantar keratoderma, inherited as an autosomal dominant trait, led us to test for a mutation in the GJB2 gene in both patients. The results showed the R75W mutation of the GJB2 gene in both. In conclusion, the simultaneous occurrence of a GJB2 mutation in a mother and daughter suggests that R75W mutation cause autosomal dominant hearing loss presenting with palmoplantar keratoderma. To the best of our knowledge, this is the first report of a GJB2 mutation associated with syndromic autosomal dominant hearing loss and palmoplantar keratoderma in a Korean family.
Adult ; Alleles ; Amino Acid Substitution ; Child, Preschool ; Connexins/*genetics ; DNA Mutational Analysis ; Deafness/complications/*genetics ; Female ; Humans ; Keratoderma, Palmoplantar/complications/*genetics/pathology ; *Mutation ; Pedigree ; Skin/pathology

PURPOSE: There are still debates on the benefit of mass screening for prostate cancer (PCA) by prostate specific antigen (PSA) testing, and on systemized surveillance protocols according to PSA level. Furthermore, there is a paucity of literature on current practice patterns according to PSA level in the Korean urologic field. Here, we report the results of a nationwide, multicenter, retrospective chart-review study. MATERIALS AND METHODS: Overall 2122 Korean men (>40 years old, PSA >2.5 ng/mL) were included in our study (from 122 centers, in 2008). The primary endpoint was to analyze the rate of prostate biopsy according to PSA level. Secondary aims were to analyze the detection rate of PCA, the clinical features of patients, and the status of surveillance for PCA according to PSA level. RESULTS: The rate of prostate biopsy was 7.1%, 26.3%, 54.2%, and 64.3% according to PSA levels of 2.5-3.0, 3.0-4.0, 4.0-10.0, and >10.0 ng/mL, respectively, and the PCA detection rate was 16.0%, 22.2%, 20.2%, and 59.6%, respectively. At a PSA level >4.0 ng/mL, we found a lower incidence of prostate biopsy in local clinics than in general hospitals (21.6% vs. 66.2%, respectively). A significant proportion (16.6%) of patients exhibited high Gleason scores (> or =8) even in the group with low PSA values (2.5-4.0 ng/mL). CONCLUSION: We believe that the results from this nationwide study might provide an important database for the establishment of practical guidelines for the screening and management of PCA in Korean populations.
Aged ; Asian Continental Ancestry Group ; Biopsy ; Humans ; Male ; Middle Aged ; Physicians ; Prostate-Specific Antigen/*blood ; Prostatic Neoplasms/*blood/*diagnosis ; Retrospective Studies ; Urology

BACKGROUND AND OBJECTIVES: Supracricoid partial laryngectomy (SCPL) and supraglottic partial laryngectomy (SPL) are considered as a good surgical procedure for satisfactory results on oncological and functional aspects in locally advanced laryngeal cancer. The purpose of this study is to research oncological and functional results to know the efficacy and safety of SCPL and SPL in locally advanced laryngeal cancer. SUBJECTS AND METHOD: We retrospectively reviewed the medical records of 76 patients with locally advanced squamous cell carcinoma of larynx from March 1993 to May 2006, who underwent SCPL (N=64), SPL (N=8), extened supraglottic laryngectomy (ESPL)(N=4). We investigated retrospectively recurrence and survival rate to evaluate oncological safety and decannulation, oral feeding, voice analysis to evaluate preservation of laryngeal function. RESULTS: Seventy three patients had over 12 months follow up. In the oncologic aspect, the overall recurrence rate was 23.2% (17/73), but for the surgery only group, it was 18% (7/38). In the advanced T stage, the recurrence rate was increased without significant difference; more regional recurrence was observed in the N positive group without significant difference. Decannulation was achieved at the mean postoperative period of 23.0 days and oral diet was achieved for all patients starting at mean postoperative period 28.3 days. In the voice analysis, SCPL showed somewhat unsatisfactory results compared with SPL, but it allowed social interaction by maintaining fundamental frequency. CONCLUSION: The oncologic aspect of both SCPL and SPL showed that they are effective methods in treating locally advanced laryngeal cancer.
Carcinoma, Squamous Cell ; Diet ; Follow-Up Studies ; Humans ; Interpersonal Relations ; Laryngeal Neoplasms* ; Laryngectomy ; Larynx ; Medical Records ; Organ Preservation ; Postoperative Period ; Recurrence ; Retrospective Studies ; Survival Rate ; Voice

This study was performed to develop a useful nerve conduit which provides favorable environment for Schwann cell viability and proliferation. Milipore membrane of 0.45um pore size was selected because it permits nutritional inflow from the outside of the conduit and prevents from invading the fibrotic tissue into the conduit. The membrane was rolled and sealed to form a conduit of 2mm diameter and 20mm length. To improve the axonal regeneration and to render better environment for endogenous and exogenous Schwann cell behaviour, the microgeometry and surface of conduit was modified by coating with thin film of calcium phosphate. Cellular viability within the conduit and attachment to its wall were assessed with MTT assay and SEM study. Milipore filter conduit showed significantly higher rate of Schwann cell attachment and viability than the culture dish. However, the reverse was true in case of fibroblast. Coating with thin film of low crystalline calcium phosphate made more favorable environment for both cells with minimal change of pore size. These findings means the porous calcium phosphate coated milipore nerve conduit can provide much favorable environment for endogenous Schwann cell proliferation and exogenous ones, which are filled within the conduit for the more advanced strategy of peripheral nerve regeneration, with potential of reducing fibrotic tissue production.
Axons ; Calcium* ; Cell Proliferation ; Cell Survival ; Crystallins ; Fibroblasts ; Membranes ; Nerve Regeneration ; Peripheral Nerves* ; Regeneration ; Schwann Cells

BACKGROUND/AIMS: Polyethyleneglycol (PEG) is safe but its large volume and bad taste reduces patients' compliance. Sodium phosphate (NaP) is a hyperosmotic agent and its small volume can increase patients' compliance but electrolyte imbalance is a problem. Therefore, we conducted a study to determine whether patients' compliance can be enhanced and electrolyte imbalance reduced by combining these two agents. METHODS: Forty-one admitted patients receiving colonoscopy at Korea University Hospital from June 28, 2004 to August 14, 2004 were randomly divided into two groups for colon cleansing with either PEG 4 L (n=21) or PEG 2 L plus NaP 45 mL (n=20). Patients were assessed for patient tolerance, quality of preparation, and changes of biochemical parameters. RESULTS: Overall discomfort was statistically lower in the combination group, PEG 2 L plus NaP 45 mL (p=0.035). Although patients in the combination group reported less fullness (p=0.076) and nausea (p=0.087), the findings were not statistically significant. The quality of the preparation was comparable between the two groups (p=0.872). The phosphorus level in the combination group showed a statistically significant increase (0.58+/-0.46) after colon cleansing (p=0.020) but was not clinically significant. CONCLUSIONS: The combination of NaP 45 mL and PEG 2 L showed less overall discomfort with comparable quality of preparation and without serious electrolyte abnormality compared to 4 L of PEG. Therefore, the combination of NaP 45 mL and PEG 2 L could be used as an alternative colonoscopic colon cleansing agent when patients have trouble taking 4 L of PEG alone.
Colon* ; Colonoscopy* ; Compliance ; Detergents ; Humans ; Korea ; Nausea ; Phosphorus ; Prospective Studies* ; Sodium*

Ameloblastomas are generally considered to be benign tumors of odontogenic epithelial origin with high local recurrence. Rarely ameloblastomas exhibit malignant behavior with development of metastases. In this report, we present a 19-year-old woman with ameloblastoma in the right ascending ramus and multiple recurrences. Eleven years after first therapy, ameloblastoma metastasized to ipsilateral submandibular lymph node. We also review literature about cause, treatment and work-up of malignant ameloblastoma.
Ameloblastoma* ; Female ; Humans ; Lymph Nodes* ; Mandible* ; Neoplasm Metastasis* ; Recurrence ; Young Adult

Allografts ; Autografts ; Cranial Nerves ; Facial Nerve ; Hand ; Incidence ; Mandibular Nerve ; Molar, Third ; Nerve Regeneration ; Orthognathic Surgery ; Peripheral Nerves ; Sural Nerve ; Transplants ; Trigeminal Nerve

Animals ; Axons ; Brain-Derived Neurotrophic Factor ; Cell Separation ; Ganglia, Spinal ; Intercellular Signaling Peptides and Proteins ; Neurons ; Peripheral Nerves ; Peripheral Nervous System ; Rats ; Regeneration ; Spinal Nerve Roots

PURPOSE OF STUDY: Peripheral nerve regeneration depends on neurotrophism of distal nerve stump, recovery potential of neuron, supporting cell like Schwann cell and neurotrophic factors such as BDNF. Peripheral nerve regeneration can be enhanced by the conduit which connects the both sides of transected nerve. The conduit maintains the effects of neurotrophism and BDNF produced by Schwann cells which can be made by gene therapy. In this study, we tried to enhance the peripheral nerve regeneration by using calcium phosphate coated porous conduit and BDNF-Adenovirus infected Schwann cells in sciatic nerve of rats. MATERIALS AND METHODS: Microporous filter which permits the tissue fluid essential for nerve regeneration and does not permit infiltration of fibroblasts, was made into 2mm diameter and 17mm length conduit. Then it was coated with calcium phosphate to improve the Schwann cell adhesion and survival. The coated filter was evaluated by SEM examination and MTT assay. For effective allogenic Schwann cell culture, dorsal root ganglia of 1-day old rat were extracted and treated with enzyme and antimitotic Ara-C. Human BDNF cDNA was obtained from cDNA library and amplified using PCR. BDNF gene was inserted into adenovirus shuttle vector pAACCMVpARS in which E1 was deleted. We infected the BDNF-Ad into 293 human mammary kidney cell-line and obtained the virus plaque 2 days later. RT-PCR was performed to evaluate the secretion of BDNF in infected Schwann cells. To determine the most optimal m.o.i of BDNF-Ad, we infected the Schwann cells with LacZ adenovirus in 1, 20, 50, 75, 100, 250 m.o.i for 2 hours and stained with beta-galactosidase. Rats(n=24) weighing around 300g were used. Total 14mm sciatic nerve defect was made and connected with calcium phosphate coated conduits. Schwann cells(1x10(6)) or BDNF-Ad infected Schwann cells(1x10(6)) were injected in conduit and only media(MEM) was injected in control group. Twelve weeks after surgery, degree of nerve regeneration was evaluated with gait analysis, electrophysiologic measurements and histomorphometric analysis. RESULTS: 1. Microporous Millipore filter was effective conduit which permitted the adhesion of Schwann cells and inhibited the adhesion of fibroblast. We could enhance the Schwann cell adhesion and survival by coating Millipore filter with calcium phosphate. 2. Schwann cell culture technique using repeated treatment of Ara-C and GDNF was established. The mean number of Schwann cells obtained 1 and 2 weeks after the culture were 1.54+/-4.0*10(6) and 9.66+/-9.6*10(6). 3. The mRNA of BDNF in BDNF-Ad infected Schwann cells was detected using RT-PCR. In Schwann cell 0.69 microgram/microliter of DNA was detected and in BDNF-Adenovirus transfected Schwann cell 0.795 microgram/microliter of DNA was detected. The most effective infection concentration was determined by LacZ Adenovirus and 75 m.o.i was found the most optimal. CONCLUSION: BDNF-Ad transfected Schwann cells successfully regenerated the 14mm nerve gap which was connected with calcium phosphate coated Millipore filter. The BDNF-Ad group showed better results compared with Schwann cells only group and control group in aspect to sciatic function index, electrophysiologic measurements and histomorphometric analysis.
Adenoviridae ; Animals ; beta-Galactosidase ; Brain-Derived Neurotrophic Factor* ; Calcium* ; Cell Adhesion ; Cell Culture Techniques ; Cytarabine ; DNA ; DNA, Complementary ; Fibroblasts ; Gait ; Ganglia, Spinal ; Gene Library ; Genetic Therapy ; Genetic Vectors ; Glial Cell Line-Derived Neurotrophic Factor ; Humans ; Kidney ; Micropore Filters ; Nerve Growth Factors ; Nerve Regeneration ; Neurons ; Peripheral Nerves ; Polymerase Chain Reaction ; Rats* ; Regeneration* ; RNA, Messenger ; Schwann Cells ; Sciatic Nerve*

Purpose: The Advanced Prostate Cancer Consensus Conference (APCCC) 2015 was based on topics withcontroversy in the field of advanced prostate cancer. To understand the Korean urologists perspective regardingthe issues, we have conducted a questionnaire named Prostate Cancer Summit (PCAS) 2016, with 9 importantsubtopics. Materials and Methods: Total 9 subtopics have been decided and questions were developed regarding eachsubtopic. The questions were based on that of APCCC 2015 and translated into Korean for better understanding.Total 51 panelists have voted online on 85 different questions. Results: The survey concluded that testosterone should be measured as a diagnostic criterion for castrationresistance prostate cancer (CRPC) and that consensus was reached on issues such as the use of androgenreceptor pathway inhibitors in the treatment of predocetaxel and postdocetaxel in CRPC patients. In addition,76% of the participants agreed that imaging tests were needed before new treatment in CRPC patients, anda majority of participants agreed that periodic imaging tests are necessary regardless of symptoms during treatmentfor CRPC. However, some issues, such as the use of prostate-specific antigen-based triggers for remediationin CRPC patients, the endocrine manipulation in nonmetastatic CRPC patients, and the onset of treatment inasymptomatic metastatic CRPC patients, were not agreed. Conclusions The results from PCAS 2016 has addressed some of the issues with controversy. Although thevoting results are subjective, it will help guide treatment decisions in topics with less evidence.