OBJECTIVE: To describe the classification and prognosis of the patients with spinal muscular atrophy (SMA). METHOD: The medical records of thirty one patients, who were diagnosed as SMA by electromyography or muscle biopsy from January 1987 to December 1999, were reviewed retrospectively. Classification of SMA was mainly based on age at onset and achieved milestones. RESULTS: Patients with SMA type I, II and III were 17 (54.8%), 7 (22.6%) and 3 (9.7%) respectively. Four patients were unclassifiable due to functional improvements. Two patients who were classified as SMA type I, had achieved ability to sit unaided at last follow up (at 20 months and 24 months old). Two patients who were classified as SMA type II, could walk independently at last follow up (at 34 month and 26 years old). In three of SMA type I patients, functional improvements of rolling over and head control were achieved. CONCLUSION: Classification of SMA based on age at onset and achieved milestones was helpful in prediction of prog nosis. But 12.9% of SMA patients were not classifiable due to unexpeceted functional improvement.
Biopsy ; Classification* ; Electromyography ; Follow-Up Studies ; Head ; Humans ; Medical Records ; Muscular Atrophy, Spinal* ; Prognosis ; Retrospective Studies

OBJECTIVE: To investigate the relationship the electrodiagnostic findings with the functional outcomes in spina bifida patients and to assess usefulness of follow up electrodiagnostic study. METHOD: Initial and follow up electrodiagnostic data of 100 patients who had been diagnosed as spina bifida were obtained retrospectively. Electrophysiological diagnosis and neurological level were investigated by the findings of needle electromyography. Each patients were divided into no change, improvement and deterioration group according to follow up study. The change of urodynamic study findings and clinical findings were also investigated. The recent functional outcomes and the presence of complications were evaluated by recent outpatient record. RESULTS: 56 patients had no change, 15 patients had improvement and 29 patients had deterioration electrophysiologically. The initial electrodiagnostic findings were associated with the functional outcomes in patients with spina bifida (p<0.05). However, neurological level by electrodiagnostic findings cannot predict functional outcomes except ambulation activities. The change of electrodiagnostic findings of follow up study were related with the change of clinical findings statistically (p<0.05). CONCLUSION: Follow up electrodiagnostic study as well as initial study is necessary for the evaluation of the change of neurological states in the patients with spina bifida.
Diagnosis ; Electrodiagnosis ; Electromyography ; Follow-Up Studies ; Humans ; Needles ; Outpatients ; Retrospective Studies ; Spinal Dysraphism ; Urodynamics ; Walking

OBJECTIVES: During the past few years, the development of functional brain imaging techniques has allowed to describe brain impairment in cognitive disorders. Among them, based on the observation of bilateral parietotemporal hypoperfusion in Alzheimer's disease(AD), single photon emission computed tomography(SPECT) is advocated by some as powerful diagnostic tool in the evaluation of demented patients. The aim of this study is to investigate the usefulness of SPECT in the diagnosis of AD and to clarify the associated factors of parietotemporal hypoperfusion, the typical SPECT pattern of Alzheimer's disease(AD). METHODS: We reviewed the SPECT scans of 26 patients fulfilling NINCDS-ADRDA criteria for probable AD, 14 with typical pattern of SPECT and 12 with atypical pattern of SPECT. Dementia severity was assessed by the Mini-Mental State Examination. Image interpretation was done visually by the consensus opinion of 2 experienced nuclear medicine physicians who were blind to clinical information. To estimate the association of typical pattern of SPECT with other variables of interest, discriminant function analysis was done. RESULTS: Though the overall diagnostic sensitivity of SPECT in AD was 53.8%, it was 76.9%, in early-onset AD patients. Typical pattern of SPECT was more frequent in the patients with early onset of the symptoms. Duration of symptoms, duration of education, sex, severity of disease was not associated with this SPECT pattern. CONCLUSION: These findings may be useful in the clinical setting and point to heterogeneity of AD according to age at onset.
Alzheimer Disease* ; Brain* ; Consensus ; Dementia ; Diagnosis ; Functional Neuroimaging ; Humans ; Nuclear Medicine ; Population Characteristics ; Sex Education ; Tomography, Emission-Computed, Single-Photon*

Renal angiomylipomas are uncommon benign neoplasms composed of mature fat tissue, thick-walled blood vessels and smooth muscle in varying proportions, which can be commonly diagnosed by those unique fat nature in abdominal ultrasonography and abdominal CT scan. Renal angiomyolipomas without demonstrable fat component are rarely reported which is difficult to differentiate from renal cell carcinoma. We report a case of renal angiomyolipoma without demonstrable fat component which was proven to positive HMB-45 stain after partial nephrectomy.
Angiomyolipoma* ; Blood Vessels ; Carcinoma, Renal Cell ; Muscle, Smooth ; Nephrectomy ; Tomography, X-Ray Computed ; Ultrasonography

PURPOSE: To evaluate usefulness of volume rendering technique using 3D visualization software on PC in patients with suspected intracranial aneurysm on brain MRA. MATERIALS AND METHODS: We analyzed prospectively 21 patients with suspected aneurysms on the routine MIP images which were obtained 15 degree increment along axial and sagittal plane, among 135 patients in whom brain MRA was done due to stroke symptoms for recent 5 months. The locations were the anterior communicating artery (A-com) in 8 patients, the posterior communicating artery (P-com) in 3, the ICA bifurcation in 5, the MCA bifurcation in 4, and the basilar tip in one. Male to female ratio was 14:7 and mean age was 62 years. MRA source images were sent to PC through LAN, and the existence of aneurysm was evaluated with volume rendering technique using 3D visualization software on PC. The presence or absence of aneurysm on MIP and volume rendering images was decided by the consensus of two radiologists. RESULTS: We found the aneurysms with volume rendering technique, from 1 patient among 8 patients with suspected aneurysm at A-com and also 1 patient among 3 patients with suspected aneurysm at P-com on routine MIP images. Confirmative angiography and interventional procedures were done in these 2 patients. The causes for mimicking the aneurysm on MIP were flow displacement artifact in 9, normal P-com infundibulum in 2, and overlapped or narrowed vessels in 8 patients, and among them confirmative angiography was done in 2 patients. CONCLUSION: Volume rendering technique using visualization software on PC is useful to scrutinize the suspected aneurysm on routine MIP images and to avoid further invasive angiography.
Aneurysm* ; Angiography ; Angiography, Digital Subtraction ; Arteries ; Artifacts ; Brain* ; Consensus ; Female ; Humans ; Intracranial Aneurysm ; Local Area Networks ; Male ; Prospective Studies ; Stroke

BACKGROUND: Fosinopril is a new phosphorous containing angiotensin converting enzyme inhibitor. To assess the antihypertensive efficacy and safety of fosinopril, the clinical trial was done in patients with mild to moderate hypertension. METHODS: In 30 patients with mild to moderate essential hypertension, we administered fosinopril 10-20mg once daily for 10 weeks and checked their blood pressure every 2 weeks. RESULTS: The blood pressure decreased from 158+/-12.3/103.4+/-4.2mmHg to 139+/-7.5/88.4+/-5.9mmHg at the end of treatment(p<0.05). Heart rate did not change significantly during therapeutic period. Of 30 patients, the efficacy of fosinopril therapy disclosed 25 patients(83.7%) with normal diastolic pressure of more than 10mmHg decline of diastolic blood pressure. But two patients had no effects and three patients were not followed up. The adverse reactions due to fosinopril were reported in 3 patients(10%) with dry cough, 2 patients with palpitation(6.7%) and 1 patient with weakness(3.3%), but there were no patients who discontinued fosinopril due to adverse effect. CONCLUSION: Fosinopril has an excellent antihypertensive effect at low dosage as a first line antihypertensive agent or as a substituting agent for other antihypertensives in patients with mild to moderate essential hypertension.
Antihypertensive Agents ; Blood Pressure ; Cough ; Fosinopril* ; Heart Rate ; Humans ; Hypertension ; Peptidyl-Dipeptidase A

PURPOSE: The objective of this study was to evaluate the role of microsatellite instability (MSI) in upper tract transitional cell carcinomas (TCC). MATERIALS AND METHODS: A total of 48 surgically treated renal pelvis and ureteral TCC patients were included in this study. MSI was determined by polymerase chain reaction (PCR) for amplification of the microsatellite sequences at mononucleotides BAT25 and BAT26, and dinucleotides D17S250, D2S123 and D5S346 in DNA and hMLH1 protein, p53 and Ki-67 expressions were determined by immunohistochemistry on retrieved tumor tissue. RESULTS: Twenty seven (56.2%) and 21 (43.8%) of the 48 patients had renal pelvis and ureteral TCC, respectively. Eighteen (37.5%) and 30 (62.5%) patients had superficial and invasive TCC, according to the pathological stage, while 24 each (50%) had low and high grade TCC, respectively. MSI was observed in 20.8% of tumors at mono-MSI and 22.9% at di-MSI. MSI-high and -low (instability >2 and <2 loci, respectively) were observed in 12.5 and 22.9%, respectively. From a univariate analysis, age, stage, tumor grade, tumor recurrence and the expressions of hMLH1 and Ki-67 were not related to MSI. However, in recurred cases, infiltrative tumors had 100% MSI compared to superficial tumors, and the expressions of p53 and Ki-67 were related to the stage and tumor grade, respectively (p<0.05). CONCLUSIONS: These results suggest that MSI may occur in upper tract TCC, as observed in other tumors. MSI was more frequently expressed in ureteral than renal pelvis tumors. However, MSI was not correlated with stage or grade, but was significantly correlated with the stage in recurred cases; and the expressions of p53 and Ki-67 were related to the stage and tumor grade.
Carcinoma, Transitional Cell* ; DNA ; Gene Expression ; Humans ; Immunohistochemistry ; Kidney Pelvis ; Microsatellite Instability* ; Microsatellite Repeats* ; Polymerase Chain Reaction ; Recurrence ; Ureter ; Urinary Tract* ; Urologic Neoplasms

Prepubertal Sertoli cell tumor of testis is very rare and most of them are benign. The choice of treatment is radical orchiectomy but careful follow-up for possible retro peritoneal spread is appropriate. We report a rare case of Sertoli cell tumor of testis in a 8-year-old boy. His chief complaint was a painless left testicular swelling from birth. Serum levels of tumor markers were within normal limits. Radical orchiectomy was performed, and cut surface of testis was yellowish and was completely displaced by lobulated tumor mass. Postoperative CT and chest x-ray showed no evidence of metastasis. The patient is alive without evidence of disease for 8 months postopera tively.
Child* ; Follow-Up Studies ; Humans ; Male ; Neoplasm Metastasis ; Orchiectomy ; Parturition ; Sertoli Cell Tumor* ; Testis* ; Thorax ; Biomarkers, Tumor

Purpose: The guidelines for pathological evaluation of early gastric cancer (EGC) recommend wider section intervals for surgical specimens (5–7 mm) than those for endoscopically resected specimens (2–3 mm). Studies in surgically resected EGC specimens showed not negligible lymph node metastasis risks in EGCs meeting the expanded criteria for endoscopic submucosal dissection (ESD). Materials and Methods: This retrospective study included 401 EGC lesions with an endoscopic size of ≤ 30 mm detected in 386 patients. Pathological specimens obtained by ESD or surgery were cut into 2-mm section intervals for reference. Submucosal or lymphovascular invasion (LVI) was evaluated arbitrarily in 4- or 6-mm section intervals. McNemar's tests compared the differences between submucosal and LVI. Results: Submucosal invasion was detected in 29.2% (117/401) and LVI in 9.5% (38/401) at 2-mm interval. The submucosal invasion detection rates in 4-mm intervals decreased to 88.0% or 90.6% (both P<0.001), while the LVI detection rates decreased to 86.8% or 57.9% (P=0.025 and P<0.001, respectively). In 6-mm intervals, the submucosal and LVI detection rates decreased further to 72.7–80.3% (P<0.001 for all three sets) and 55.3–63.2% (P<0.001 for all three sets), respectively. Among 150 out-of-indication cases at 2-mm interval, 4–10 (2.7%–6.7%) at 4-mm intervals, and 10–17 (6.7%–11.3%) at 6-mm intervals were misclassified as lesions meeting the curative resection criteria due to the underestimation of submucosal or LVI. Conclusions After ESD, the 2-mm wide section interval was suitable for the pathological evaluation of focal submucosal or LVI. Thus, if an EGC lesion meets the expanded criteria for the ESD specimen pathological evaluation, it could be safely followed up.

Purpose: Recently, non-exposure simple suturing endoscopic full-thickness resection (NESSEFTR) was developed to prevent tumor exposure to the peritoneal cavity. This study aimed to evaluate the feasibility of NESS-EFTR with sentinel basin dissection for early gastric cancer (EGC). Materials and Methods: This was the prospective SENORITA 3 pilot. From July 2017 to January 2018, 20 patients with EGC smaller than 3 cm without an absolute indication for endoscopic submucosal dissection were enrolled. The sentinel basin was detected using Tc 99m -phytate and indocyanine green, and the NESS-EFTR procedure was performed when all sentinel basin nodes were tumor-free on frozen pathologic examination. We evaluated the complete resection and intraoperative perforation rates as well as the incidence of postoperative complications. Results: Among the 20 enrolled patients, one dropped out due to large tumor size, while another underwent conventional laparoscopic gastrectomy due to metastatic sentinel lymph nodes. All NESS-EFTR procedures were performed in 17 of the 18 other patients (94.4%) without conversion, and the complete resection rate was 83.3% (15/18). The intraoperative perforation rate was 27.8% (5/18), and endoscopic clipping or laparoscopic suturing or stapling was performed at the perforation site. There was one case of postoperative complications treated with endoscopic clipping; the others were discharged without any event. Conclusions NESS-EFTR with sentinel basin dissection is a technically challenging procedure that obtains safe margins, prevents intraoperative perforation, and may be a treatment option for EGC after additional experience.