Hearing loss is one of the most common sensorineural disorder. More than half of congenital bilateral profound deafness cases have been estimated to be attributed to genetic cause. Identification of genetic cause can provide valuable information. We developed new diagnostic strategy combining phenotype-driven candidate gene approach and targeted exome sequencing to find out the causative mutation of hearing loss. The causative mutation detection rates of this strategy were 78.1% and 54.8% in Korean multiplex families and sporadic severe to profound hearing loss families, respectively. The most frequent causative genes of Korean multiplex families were SLC26A4 and POU3F4. The other causative genes were MRNR1, WFS1, COCH, TECTA, MYO6, COL11A2, EYA4, GJB3, OTOF, STRC, MYO3A, and GJB2. The most frequent causative gene of Korean sporadic severe to profound hearing loss families was SLC26A4 followed by GJB2, CHD7, and CDH23. Based upon the results, the value of this strategy as a diagnostic tool seems to be promising. Although whole genome and exome sequencing have advanced as the development of next-generation sequencing, this new strategy could be a good screening and diagnostic tool to find the causative mutations.
Deafness ; Exome ; Genome ; Hearing Loss ; Hearing Loss, Sensorineural* ; Humans ; Mass Screening*

The ureteral fistula is the most common urologic complication and it usually occurs within the first 3 weeks after renal transplantation. The dominant cause is damage to the arterial supply of the transplanted ureter by close dissection at time of donor nephrectomy. The signs and symptoms of ureteral fistula can mimmic acute rejection, which is oliguria, anuria, fever, wound tenderness, swelling and decreased renal function. It was well established that open intervention was standardized for such problem. Recently nonoperative percutaneous approaches to the placement of stents and tubes are used. Herein we report a case of ureteral fistula, misdiagnosed as acute rejection after renal transplantation, which was healed with Silastic drain insertion in a 22-year-old male recipient.
Anuria ; Fever ; Fistula* ; Humans ; Kidney Transplantation* ; Male ; Nephrectomy ; Oliguria ; Stents ; Tissue Donors ; Ureter* ; Wounds and Injuries ; Young Adult

OBJECTIVE: Recently, there are many reports that glutamate receptors have close relationships with a pathophysiology of schizophrenia. The purpose of this study was to assess the effects of D-cycloserine, which is glycine site partial agonist in NMDA receptor on psychopathologic symptoms and cognitive functions. METHODS: This study was done for chronic schizophrenic inpatients taking typical antipsychotics for more than 4 months. Exclusion criteria were patients with over 8 points according to Simpson-Angus scale for EPS or those with over 17 points of Hamilton Depression Scale. Patients were randomized to classify into two groups; D-cycloserine group (n=13) and placebo group (n=13). Each group received D-cycloserine 100 mg or placebo separately for 8 weeks. Psychopathology was evaluated with PANSS at baseline, 2nd week, fourth week and eighth week. Cognitive function was evaluated with KWIS at baseline and eighth week. RESULTS: Total 26 patients completed this trial. The average period of morbidity was 10.39+/-3.87 years and the average doses of antipsychotic was 1228.35+/-720.30 mg based on chlorpromazine equivalent. In positive subscale, negative subscale, general psychopathology subscale, total PANSS scale and KWIS, there were no significant differences between D-cycloserine and placebo groups. However, negative subscale scores had decreased from 24.92+/-3.64 (Baseline) to 23.46+/-3.41 (week 8) (p=0.077). CONCLUSION: There were no clear changes in positive symptom, negative symptom, memory, language function, and performance intelligence when D-cycloserine 100 mg was given with antipsychotic medication. However, some patients showed clear improvement in negative symptom, especially blunted affect. Therefore, D-cycloserine combination therapy could be effective for negative symptom. In future, study that can show effectiveness in psychopathology and cognitive function according to drug dosage is needed.
Antipsychotic Agents ; Chlorpromazine ; Cognition* ; Depression ; Glycine ; Humans ; Inpatients ; Intelligence ; Memory ; N-Methylaspartate ; Psychopathology ; Receptors, Glutamate ; Schizophrenia*

PURPOSE: To investigate the efficacy and safety of naftopidil for benign prostatic hyperplasia (BPH) patients, mainly focusing on changes in blood pressure (BP). MATERIALS AND METHODS: Of a total of 118 patients, 90 normotensive (NT) and 28 hypertensive (HT) patients were randomly assigned to be treated with naftopidil 50 mg or 75 mg for 12 weeks, once-daily. Safety and efficacy were assessed by analyzing changes from baseline in systolic/diastolic BP and total International Prostate Symptom Score (IPSS) at 4 and 12 weeks. Adverse events (AEs), obstructive/irritative subscores, quality of life (QoL) score, maximum urinary flow rate (Qmax), and benefit, satisfaction with treatment, and willingness to continue treatment (BSW) questionnaire were also analyzed. RESULTS: Naftopidil treatment decreased mean systolic BP by 18.7 mm Hg for the HT 50 mg group (p<0.001) and by 18.3 mm Hg for the HT 75 mg group (p<0.001) and mean diastolic BP by 17.5 mm Hg for the HT 50 mg group (p<0.001) and by 14.7 mm Hg for the HT 75 mg group (p=0.022). In the NT groups (both naftopidil 50 mg and 75 mg), naftopidil elicited no significant changes in BP from baseline values. After 12 weeks, naftopidil 50 and 75 mg groups showed significant improvements in IPSS scores (total, obstructive/irritative subscores, QoL score) and Qmax from baseline. AEs were reported in 7.8% (50 mg group) and 2.9% (75 mg group) of patients. In both the 50 mg and 75 mg groups, >86% of all patients agreed to continue their current medications. CONCLUSION: Our results suggest that naftopidil treatment in BPH patients with hypertension allows for optimal management of BP within the normal range.
Blood Pressure ; Humans ; Hypertension* ; Prospective Studies* ; Prostate ; Prostatic Hyperplasia* ; Quality of Life ; Reference Values ; Treatment Outcome*

OBJECTIVE: To compare the accuracy of three-dimensional (3-D) ultrasound-assessed fetal thigh volumetry in predicting birth weight with that of other commonly used formulas composed of biparietal dimeter (BPD), abdominal circumference (AC), and femur length (FL) by two-dimentional (2-D) ultrasonography. METHODS: From May 1999 to February 2000 we performed a prospective study of ultrasonography on 100 pregnant women. We assessed the thigh volume of 100 fetuses using 3-D ultrasonography. Meanwhile their BPD, AC, and FL were measured by 2-D ultrasonography. All infants were delivered within 48 hours after the ultrasound examinations. RESULTS: The thigh volume assessed by 3-D ultrasonography was highly correlated with birth weight (r=0.414, n=100, p<0.0001). The 3-D formula had small mean values of absolute mean error (gm) (64.26), absolute mean error (%) (10.20+/-0.80). As well, the 2-D formulas had similar mean values. However, no significant differences in predicting birth weight were found between 3-D formula and 2-D formulas. CONCLUSION: The 3-D ultrasound method assessed by thigh volume showed better accuracy in predicting birth weight than 2-D methed. Further studies may be needed to confirm our conclusions.
Birth Weight* ; Female ; Femur ; Fetus ; Humans ; Infant ; Parturition* ; Pregnant Women ; Prospective Studies ; Thigh* ; Ultrasonography*

PURPOSE: To evaluate the effectiveness of digital rectal-compression immediately after transrectal prostate biopsy (P-bx) for improving the accuracy of prostate cancer (PCa) staging. MATERIALS AND METHODS: Between July 2008 and June 2010, 94 consecutive patients who had a radical prostatectomy were included in our retrospective analysis. The exclusion criteria included a history of previous P-bx and surgery, a biopsy performed in another hospital, a number of biopsy cores different from 12, or a condition interfering with bleeding assessment. The subjects were divided into two groups, compression and non-compression. All enrolled patients took magnetic resonance imaging (MRI) for PCa staging. RESULTS: The compression and non-compression groups were comparable with respect to several baseline characteristics. However, the total hemorrhage score of intraprostatic bleeding was significantly different between the groups, even with adjustment for the time from biopsy to MRI (compression:15.4+/-2.32, non-compression: 24.9+/-2.43, p<0.001). The intra-prostatic cancer location matching rate was higher in the compression group (78.0%) than in the non-compression group (70.2%) (p=0.011). Overall accuracy of staging in compression and non-compression groups was 84.7% and 77.3%, respectively. CONCLUSION: Our results demonstrate that digital rectal compression performed immediately after prostate biopsy to reduce intraprostatic hemorrhage improves the accuracy for detection of PCa using MRI.
Aged ; *Biopsy ; Biopsy, Needle ; *Digital Rectal Examination ; Hemorrhage/prevention & control ; Hemostasis ; Humans ; *Magnetic Resonance Imaging ; Male ; Middle Aged ; Neoplasm Staging/*methods ; Pressure ; Prostate/pathology ; Prostatic Neoplasms/*diagnosis/*pathology ; Reproducibility of Results ; Retrospective Studies

PURPOSE: There were a lot of reports regarding associations of polymorphisms in the estrogen receptor alpha (ESR1). with many disorders. But, those with constitutional delay of growth and puberty (CDGP) are not known. Our aim is to find out any association between CDGP and ESR1. METHODS: In a total of 27 subjects, we compared 7 CDGP patients with 20 healthy controls with their heights and sexual maturity rates were within normal range. We selected three single nucleotide polymorphisms from intron 1 of ESR1 (rs3778609, rs12665044, and rs827421) as candidates, respectively. RESULTS: In genotype analyses, the frequency of G/G genotype at rs827421 in intron 1 of ESR1 was increased in CDGP boys (P=0.03). CONCLUSION: The genetic variation of ESR1 can be a contributing factor of tempo of growth and puberty.
Cyclic N-Oxides ; Estrogen Receptor alpha ; Estrogens ; Genetic Variation ; Genotype ; Humans ; Introns ; Polymorphism, Single Nucleotide ; Puberty ; Reference Values

PURPOSE: There were a lot of reports regarding associations of polymorphisms in the estrogen receptor alpha (ESR1). with many disorders. But, those with constitutional delay of growth and puberty (CDGP) are not known. Our aim is to find out any association between CDGP and ESR1. METHODS: In a total of 27 subjects, we compared 7 CDGP patients with 20 healthy controls with their heights and sexual maturity rates were within normal range. We selected three single nucleotide polymorphisms from intron 1 of ESR1 (rs3778609, rs12665044, and rs827421) as candidates, respectively. RESULTS: In genotype analyses, the frequency of G/G genotype at rs827421 in intron 1 of ESR1 was increased in CDGP boys (P=0.03). CONCLUSION: The genetic variation of ESR1 can be a contributing factor of tempo of growth and puberty.
Cyclic N-Oxides ; Estrogen Receptor alpha ; Estrogens ; Genetic Variation ; Genotype ; Humans ; Introns ; Polymorphism, Single Nucleotide ; Puberty ; Reference Values

Sparganum is a parasite infesting principally in the cats or dogs, but human infestation was also not uncommonly reported. In Korea, the reported cases of sparganosis are over 70. We experienced a case of sparganosis in scrotum. This patient, 47 year-old man, had had episodes of intake raw snakes for 6 years as a tonic since 12 years before. The removed larvae of the parasite revealed milkish-white color, flat, and glistening appearance. Life cycle and route of infection of sparganum mansoni are discussed with review of the literatures.
Animals ; Cats ; Dogs ; Humans ; Korea ; Larva ; Life Cycle Stages ; Middle Aged ; Parasites ; Scrotum* ; Snakes ; Sparganosis* ; Sparganum

BACKGROUND: Pneumonia is a common medical complication after acute stroke, and makes a considerable influence on the prognosis. It is potentially preventable or treatable if early recognized. Thus, the identification of which patients are at risk for the development of pneumonia is clinically significant. METHODS: A total of 240 patients with an acute stroke who were consecutively admitted to a Seoul National University Hospital were studied. The following prognostic factors were accounted for in the statistical analyses: age, sex, hypertension, diabetes, cardiac disease, smoking, recurrent stroke, NIHSS, modified Rankin scale (mRS), the presence of dysphagia, blood pressure, body temperature, white blood cell count, blood sugar, fibrinogen, Levin tube insertion, Foley catheter insertion, and subtype of stroke. RESULTS: Pneumonia was diagnosed in 36 (17.0%) patients during the acute stage of stroke, particularly within 2 weeks. Average admission stay of patients with pneumonia was 38.7 days, whereas it was 19.3 days for those without pneumonia. By multivariate analysis, Levin tube insertion, body temperature, recurrent stroke, and mRS were significant predictor of pneumonia development. Forty percent of patients with four or five points of mRS developed pneumonia, compared to 6% in less than four points. CONCLUSIONS: Our results show that the patients who have Levin tube, high mRS, or recurrent stroke tend to develop pneumonia after acute stroke. It is important for early detection and prevention of pneumonia in patients with high mRS.
Blood Glucose ; Blood Pressure ; Body Temperature ; Catheters ; Deglutition Disorders ; Fibrinogen ; Heart Diseases ; Humans ; Hypertension ; Leukocyte Count ; Multivariate Analysis ; Pneumonia* ; Prognosis ; Seoul ; Smoke ; Smoking ; Stroke*