Drash syndrome, which was first reported by Denys et al. in 1967 is a complex disorder which associates a nephropathy, Wilms' tumor, and male pseudohermaphroditism. The common denominator is a nephropathy. The nephropathy may be associated with either genital abnormalities or Wilms' tumor, and these associations are called incomplete form of Drash syndrome. This syndrome appears early in life and the first sign usually is genital ambiguity. The nephropathy presents with proteinuria, hematuria and hypertension, and eventually progresses to end stage renal failure. Renal biopsy may reveal a variety of glomerular and interstitial changes. Wilms' tumor may appear as s mass on ultrasound or it may not be recognized until nephrectomy or even autopsy. We report on a boy with nephropathy and genital abnormalities. A nephrotic syndrome with hypertension was present when first seen at 15 days of age. The karyotype was 46, XY and external genitalia was ambiguous. The nephrotic syndrome and signs of renal insufficiency persisted and he died at the age of 40 days. Histopathologic findings of kidney at autopsy revealed those of diffuse mesangial sclerosis. The case was presented with brief review of literatures.
46, XY Disorders of Sex Development ; Autopsy ; Biopsy ; Denys-Drash Syndrome* ; Disorders of Sex Development ; Genitalia ; Hematuria ; Humans ; Hypertension ; Karyotype ; Kidney ; Male ; Nephrectomy ; Nephrotic Syndrome ; Proteinuria ; Renal Insufficiency ; Sclerosis ; Ultrasonography ; Wilms Tumor

PURPOSE: To evaluate the usefulness of transperineal sonography of the prostate in patients with previousabdominoperineal resection. MATERIALS AND METHODS: Transperineal prostatic sonograms were obtained from ninepatients with abdominoperineal resection. The shortest distance between the probe and the prostate gland, itsvolume, and its internal and external structures were evaluated for image quality, shape, border, and the degreeof distortion in internal echo. Because the number of patients was small, statistical analysis was not performed. RESULTS: Transperineal sonography of the prostate in eight patient was obtained at ease, except that one of ninepatients was not able to continue the procedure because of severe tenderness of the perineum and poor cooperation.Acceptable images of the prostate gland and their adjacent structures were obtained in one patient with less than1cm between the probe and prastate gland, three of four with between 1cm and 1.5cm, and one of three with morethan 1.5cm. CONCLUSION: In patients with previous abdominoperineal resection, transperineal sonography of theprostate may be a good imaging modality.
Humans ; Perineum ; Prostate*

Clinical features of corticobasal degeneration (CBD) can be characterized by an asymmetric akinetic-rigid syndrome with variable combinations of other deficits (corticospinal tract signs, supranuclear gaze palsy, cerebellar ataxia, cortical sensory loss, alien limb behavior, dystonia and myoclonus). Such unique combination of clinical features of CBD have lead to the general agreement that clinical diagnosis of CBD is reliable. We describe 6 patients presenting with clinical features compatible with CBD. Three had characteristic clinical features of CBD; one showed clinical features compatible with progressive supranuclear palsy, but also had apraxia and cortical sensory disturbances; one had an early CBD. The remaining one had clinical features compatible with CBD, but brain magnetic resonance imaging study showed multiple small lesions involving periventricular white matter and basal ganglia bilaterally.
Apraxias ; Basal Ganglia ; Brain ; Cerebellar Ataxia ; Diagnosis ; Dystonia ; Emigrants and Immigrants ; Extremities ; Humans ; Magnetic Resonance Imaging ; Paralysis ; Supranuclear Palsy, Progressive

No abstract available.
Nephritis, Hereditary*

BACKGROUND: Right ventricular apical (RVA) pacing induces left ventricular (LV) dyssynchrony, increases the risk of persistent atrial fibrillation in the long term. The aim was to investigate the effects of RVA pacing on left atrial (LA) function, which are unknown. METHODS: Echocardiographic evaluation including LV dyssynchrony based on conventional Doppler, tissue Doppler imaging and speckle tracking strain echocardiography was done before and after (12 months) single-chamber ventricular pacemaker implantation in 40 patients with sick sinus syndrome. Patients were divided to 2 groups, according to the RVA pacing frequency (group I had higher pacing rate of more than 50% and group II, less than 50%). RESULTS: There was no significant difference in LV ejection fraction, however, mean global LV strain, myocardial performance index, and parameters of LV dyssynchrony had shown significant changes after 12 months of RVA pacing. There were also significant increase in the LA volume index and the reduction of peak systolic LA strain and strain rate (SR), peak early and late diastolic SR after RVA pacing. Moreover, there was significant deterioration of LV dyssynchrony and both LA and LV longitudinal function in even group II. LA functional deterioration and LA volume was significantly correlated with the frequency of RVA pacing. CONCLUSION: LV dyssynchrony, induced by RVA pacing, significantly impaired active LA contraction and passive stretching, and these findings were shown in the patients with even less than 50% of RVA pacing. Impairment of LA strain/SR was significantly correlated with the frequency of RVA pacing.
Atrial Fibrillation ; Atrial Function ; Atrial Function, Left ; Contracts ; Echocardiography ; Humans ; Muscle Stretching Exercises ; Sick Sinus Syndrome ; Sprains and Strains ; Track and Field

BACKGROUND: Right ventricular apical (RVA) pacing induces left ventricular (LV) dyssynchrony, increases the risk of persistent atrial fibrillation in the long term. The aim was to investigate the effects of RVA pacing on left atrial (LA) function, which are unknown. METHODS: Echocardiographic evaluation including LV dyssynchrony based on conventional Doppler, tissue Doppler imaging and speckle tracking strain echocardiography was done before and after (12 months) single-chamber ventricular pacemaker implantation in 40 patients with sick sinus syndrome. Patients were divided to 2 groups, according to the RVA pacing frequency (group I had higher pacing rate of more than 50% and group II, less than 50%). RESULTS: There was no significant difference in LV ejection fraction, however, mean global LV strain, myocardial performance index, and parameters of LV dyssynchrony had shown significant changes after 12 months of RVA pacing. There were also significant increase in the LA volume index and the reduction of peak systolic LA strain and strain rate (SR), peak early and late diastolic SR after RVA pacing. Moreover, there was significant deterioration of LV dyssynchrony and both LA and LV longitudinal function in even group II. LA functional deterioration and LA volume was significantly correlated with the frequency of RVA pacing. CONCLUSION: LV dyssynchrony, induced by RVA pacing, significantly impaired active LA contraction and passive stretching, and these findings were shown in the patients with even less than 50% of RVA pacing. Impairment of LA strain/SR was significantly correlated with the frequency of RVA pacing.
Atrial Fibrillation ; Atrial Function ; Atrial Function, Left ; Contracts ; Echocardiography ; Humans ; Muscle Stretching Exercises ; Sick Sinus Syndrome ; Sprains and Strains ; Track and Field

Hodgkin's disease primarily involves the lymphoreticular system with characteristic tumor cells and infiltration of reactive lymphocytes, eosinophils and plasma cells. The present study investigates the incidence of the disease by subtypes and by geographic differences, its clinicopathologic features and properties of the tumor cells. Fifty-eight cases were retrospectively reviewed, and the results were as follows; 1) Histopathologic classification by the Rye modification were; lymphocyte predominance(LP) 4 cases, nodular sclerosis (NS) 12 cases, mixed cellularity (MC) 26 cases and lymphocyte depletion(LD) 16 cases 2) The geographic difference in the distribution of subtypes of Hodgkin's disease between the Seoul and Wonju areas was noted and in Seoul, the ratio of NS was higher than in Wonju, and the ratio of LD was higher in Wonju than in Seoul 3) Age distribution was between 6 and 7O years with a mean age of 37 years. The peak incidence was seen between the 3rd and 5th decades. The male to female ratio was 2.9:1 with 43 male patients and 15 female 4) Utilizing the Ann Arbor staging method, 75-87.5% of LP, MC and NS were classified as stage I or II and 81.3% of LD were stage III or IV 5) The initial biopsy sites most commonly seen were in the peripheral lymph nodes (54 cases) and one case each in the mediastinal lymph node, thymus, tonsil and stomach 6) The most frequent initial chief complaint was a palpable mass (60.3%), other complaints included fever, cough, dyspnea, anorexia general weakness and hematemesis 7) Among 58 cases, 32 cases were studied using an immunoperoxidase stain. The Reed-Stemberg (R-S) cells and/or Hodgkin's cells were positive for Kappa and Lambda light chains, simultaneously. One case was positive for lysozyme and all were negative for S-100 protein. For the (C)u-antichymotrypsin, 13 cases exhibited a positive reaction. These findings suggest that R-S cells might be the histiocytic origin.
Adolescent ; Adult ; Aged ; Biopsy ; Child ; Female ; Histiocytes/pathology ; Hodgkin Disease/*pathology ; Human ; Immunoenzyme Techniques ; Lymph Nodes/pathology ; Male ; Middle Age ; Neoplasm Staging ; Support, Non-U.S. Gov't

OBJECTIVE: To investigate and compare the effect of low-dye taping (LDT) and figure-8 modification of LDT (MLDT) on peak plantar pressure and heel pain in patients with heel pad atrophy. METHODS: There were reviewed 32 feet of 19 patients who have been diagnosed with heel pad atrophy who were enrolled in this study. The patients were diagnosed with heel pad atrophy with clinical findings, and loaded heel pad thickness measured by ultrasonography. At the first visit, patients were taught how to do LDT and MLDT. They were instructed to do daily living with barefoot, LDT and MLDT at least one time per day. Patients performed pedobarography with barefoot, LDT and MLDT within 2 weeks. The severity of heel pain was also checked with the visual analogue scale (VAS) during daily living with barefoot, LDT and MLDT. RESULTS: VAS of hindfoot were significantly decreased after LDT and MLDT (p < 0.01). Peak plantar pressure under hindfoot were also decreased after LDT and MLDT (p < 0.01). The effect of MLDT in decreasing peak plantar pressure of hindfoot (p < 0.01) and pain relief (p=0.001) was better than the effect of LDT. CONCLUSION: The LDT technique is clinically useful for pain management and reducing peak plantar pressure of hindfoot in patients with heel pad atrophy. MLDT is more effective than LDT in reducing peak plantar pressure and heel pain in patients with heel pad atrophy.
Atrophy* ; Foot ; Gait ; Heel* ; Humans ; Pain Management ; Ultrasonography

BACKGROUND/AIMS: Few studies have investigated the prognosis of non-gastric gastrointestinal stromal tumors (GISTs) under the modified National Institutes of Health (NIH) consensus criteria in Korea. This study aims to clarify the clinical usefulness of the modified NIH criteria for risk stratification. METHODS: From January 2000 through October 2012, 88 patients who underwent curative resection for primary GISTs were included in this study. The enrolled patients were stratified to predict recurrence by the original NIH criteria and modified NIH criteria. RESULTS: In all, 88 patients had non-gastric GISTs, including 82 and 6 patients with GISTs of the small intestine and colorectum, respectively. The mean age was 57.3+/-13.0 years, and the median follow-up duration was 3.40 years (range, 0.02-12.76 years). All patients who were placed in the intermediate-risk category according to the original NIH criteria were reclassified into the high-risk category according to the modified NIH criteria. Therefore, the proportion of cases in the intermediate-risk category declined to 0.0% from 25.0% (22/88), and the proportion of cases in the high-risk category increased to 43.2% (38/88) from 18.2% (16/88) under the modified NIH criteria. Among the 22 reclassified patients, 6 (27.3%) suffered a recurrence during the observational period, and the recurrence rate of high-risk category patients was 36.8% (14/38). CONCLUSIONS: Patients in the high-risk category according to the modified NIH criteria had a high GIST recurrence rate. Therefore, the modified NIH criteria are clinically useful in selecting patients who need imatinib adjuvant chemotherapy after curative surgical resection.
Chemotherapy, Adjuvant ; Consensus ; Follow-Up Studies ; Gastrointestinal Stromal Tumors* ; Humans ; Imatinib Mesylate ; Intestine, Small ; Korea ; National Institutes of Health (U.S.)* ; Prognosis ; Recurrence*

OBJECTIVE: This study aims to evaluate the degree of inter- and intraobserver agreement when characterizing breast abnormalities using the Breast Imaging Reporting and Data System (BI-RADS)-ultrasound (US) lexicon, as defined by the American College of Radiology (ACR). MATERIALS AND METHODS: Two hundred ninety three female patients with 314 lesions underwent US-guided biopsies at one facility during a two-year period. Static sonographic images of each breast lesion were acquired and reviewed by four radiologists with expertise in breast imaging. Each radiologist independently evaluated all cases and described the mass according to BI-RADS-US. To assess intraobserver variability, one of the four radiologists reassessed all of the cases one month after the initial evaluation. Inter- and intraobserver variabilities were determined using Cohen's kappa (k) statistics. RESULTS: The greatest degree of reliability for a descriptor was found for mass orientation (k = 0.61) and the least concordance of fair was found for the mass margin (k = 0.32) and echo pattern (k = 0.36). Others descriptive terms: shape, lesion boundary and posterior features (k = 0.42, k = 0.55 and k = 0.53, respectively) and the final assessment (k = 0.51) demonstrated only moderate levels of agreement. A substantial degree of intraobserver agreement was found when classifying all morphologic features: shape, orientation, margin, lesion boundary, echo pattern and posterior feature (k = 0.73, k = 0.68, k = 0.64, 0.68, k = 0.65 and k = 0.64, respectively) and rendering final assessments (k = 0.65). CONCLUSION: Although BI-RADS-US was created to achieve a consensus among radiologists when describing breast abnormalities, our study shows substantial intraobserver agreement but only moderate interobserver agreement in the mass description and final assessment of breast abnormalities according to its use. A better agreement will ultimately require specialized education, as well as self-auditing practice tests.
Adenocarcinoma/classification/*diagnosis ; Adenocarcinoma, Mucinous/classification/*diagnosis ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biopsy ; Breast Neoplasms/classification/*diagnosis ; Carcinoma, Ductal, Breast/classification/*diagnosis ; Carcinoma, Intraductal, Noninfiltrating/classification/*diagnosis ; Female ; Follow-Up Studies ; Humans ; Middle Aged ; Observer Variation ; Predictive Value of Tests ; Radiology ; Reproducibility of Results ; Sensitivity and Specificity ; Societies, Medical ; Terminology as Topic ; Ultrasonography, Doppler, Color/statistics & numerical data ; Ultrasonography, Mammary/*statistics & numerical data