We present the first case report of fragile X-associated tremor ataxia syndrome (FXTAS) in the Republic of Korea. A 75-year-old male developed progressive gait ataxia, parkinsonism, and a mood disorder. Magnetic resonance imaging revealed T2 high signal intensity within the middle cerebellar peduncles. Analysis of the fragile X mental retardation 1 gene revealed a CGG trinucleotide repeat number of 136. FXTAS should be considered when a patient has atypical parkinsonism, cerebellar ataxia, and specific MRI abnormalities.

The back pain is increasingly becoming a major problem in the elderly people. The cause of back pain in the elderly patient is quite different from in the young subject. And relationship of the occurrence of osteoporosis with the incidence of fractures in general is currently regarded as a major factor. The authors performed clinical observation on 194 elderly patients who were treated for back pain during 5 years period from April, 1983 to April, 1988 at the Department of Orthopaedic Surgery, Severance Hospital and relationship between osteoporosis and compression fracture of spine was reviewed. The results were as follows : l. Among the 194 cases of back pain(28.3% of total admission cases), whose age were over 50: 142 cases were female and 52 cases were male, being more common in female. 2. Most common cause of back pain was the compression fracture of spine : 86 cases(44.3 %). Osteoporosis was associated with 66 cases(76.7%) out of 86 cases. 3. The number of compression fracture in same patient was more frequent in osteoporotic patient and thoracolumber junction (T12, Ll) was the major site of fracture (45.6%). Compression fracture of spine caused by osteoporosis occured at multiple level in 60.6%. 4. Twenty three cases(34.8%) of compression fracture of spine with osteoporosis were found to have previous history of fractures of spine and/or extremities by radiological examination. Regarding this results, compression fractures of spine was not infrequent cause of back pain in the elderly. It was thought that re-fracture of spine should be prevented by vigorous approach against osteoporosis along with the treatment of presenting fracture in these patients.
Aged ; Back Pain ; Clinical Study ; Extremities ; Female ; Fractures, Compression ; Humans ; Incidence ; Male ; Osteoporosis ; Spine

Since 1952, Ilizarov external fixator has been developed and used for more than 30 years in Russia and world-wide interest on it has been prevalent during last 2-3 years. The fixation of the tension applied thin wires to the metal frame resist flexional and translational deformity just like other extenal fixators. But, it allows cyclic axial micro-motion at the fracture site without loss of reduction so that it can provide good environment for the fracture healing biologically and biomechanically. Another advantage of Ilizarov external fixator is that it permits mobilization of the adjacent joints and weight bearing of the fractured limb during the application of it and shortens the duration of administration. Since 1988, We applied the Ilizarov external fixator for the treatment of diffcult tibial fractures (open comminuted, segmented and comminuted fractures, nonunion, maunion) and obtained good results in 7 cases. So we report our results even if we had limited cases and experiences.
Congenital Abnormalities ; External Fixators ; Extremities ; Fracture Healing ; Fractures, Comminuted ; Joints ; Russia ; Tibia ; Tibial Fractures ; Weight-Bearing

Slipped capital femoral epiphysis is a rare hip disorder that mainly occurs in pubertal children. Although the exact cause of this disorder is unknown, it is known to be associated with obesity, trauma, delayed sexual development, delayed bone maturation, chronic renal failure, genetic diseases, endocrine disorders (growth hormone deficiency, hypothyroidism, hypogonadism), growth hormone therapy, and gonadotropin releasing hormone agonist (GnRH agonist) therapy. We report 2 cases of slipped capital femoral epiphysis in adolescent females who were receiving growth hormone therapy. The first case is of a 16 year-old-girl with chronic renal failure and renal osteodystrophy. The second case is of an 11 year-old-girl with idiopathic precocious puberty who had received GnRH agonist and growth hormone therapy. Unilateral or bilateral slipped capital femoral epiphysis developed at 1 year 3 months after treatment in both the cases. The chief complaints were pain in the hip joint and lower extremities. Growth hormone and/or GnRH agonist therapy was stopped, and in situ screw fixations of the involved hip epiphyses were performed.
Adolescent ; Child ; Endocrine System Diseases ; Epiphyses ; Female ; Gonadotropin-Releasing Hormone ; Growth Hormone ; Hip ; Hip Joint ; Humans ; Hypothyroidism ; Kidney Failure, Chronic ; Lower Extremity ; Obesity ; Puberty, Precocious ; Renal Osteodystrophy ; Sexual Development ; Slipped Capital Femoral Epiphyses

BACKGROUND: We report a case of a spray painter who developed malignant fibrous histiocytoma (MFH) of the maxillary sinus following long-term exposure to chromium, nickel, and formaldehyde, implying that these agents are probable causal agents of MFH. CASE REPORT: The patient developed right-sided prosopalgia that began twenty months ago. The symptom persisted despite medical treatment. After two months, he was diagnosed with MFH through imaging studies, surgery, and pathological microscopic findings at a university hospital in Seoul. His social, medical, and family history was unremarkable. The patient had worked for about 18 years at an automobile repair shop as a spray painter. During this period, he had been exposed to various occupational agents, such as hexavalent chromium, nickel, and formaldehyde, without appropriate personal protective equipment. He painted 6 days a week and worked for about 8 hours a day. Investigation of the patient's work environment detected hexavalent chromium, chromate, nickel, and formaldehyde. CONCLUSIONS: The study revealed that the patient had been exposed to hexavalent chromium, formaldehyde, and nickel compounds through sanding and spray painting. The association between paranasal cancer and exposure to the aforementioned occupational human carcinogens has been established. We suggest, in this case, the possibility that the paint spraying acted as a causal agent for paranasal cancer.
Automobiles* ; Carcinogens ; Chromium ; Formaldehyde ; Histiocytoma, Malignant Fibrous* ; Humans ; Maxillary Sinus* ; Nickel ; Occupational Exposure ; Paint ; Paintings ; Seoul ; Silicon Dioxide

OBJECTIVES: The Korean Dizziness Handicap Inventory (KDHI), which includes 25 patient-reported items, has been used to assess self-reported dizziness in Korean patients with Parkinson disease (PD). Nevertheless, few studies have examined the KDHI based on item-response theory within this population. The aim of our study was to address the feasibility and clinimetric properties of the KDHI instrument using polytomous Rasch measurement analysis. METHODS: The unidimensionality, scale targeting, separation reliability, item difficulty (severity), and response category utility of the KDHI were statistically assessed based on the Andrich rating scale model. The utilities of the orderedresponse categories of the 3-point Likert scale were analyzed with reference to the probability curves of the response categories. The separation reliability of the KDHI was assessed based on person separation reliability (PSR), which is used to measure the capacity to discriminate among groups of patients with different levels of balance deficits. RESULTS: Principal component analyses of residuals revealed that the KDHI had unidimensionality. The KHDI had satisfactory PSR and there were no disordered thresholds in the 3-point rating scale. However, the KDHI showed several issues for inappropriate scale targeting and misfit items (items 1 and 2) for Rasch model. CONCLUSIONS: The KDHI provide unidimensional measures of imbalance symptoms in patients with PD with adequate separation reliability. There was no statistical evidence of disorder in polytomous rating scales. The Rasch analysis results suggest that the KDHI is a reliable scale for measuring the imbalance symptoms in PD patients, and identified parts for possible amendments in order to further improve the linear metric scale.
Dizziness ; Humans ; Parkinson Disease ; Principal Component Analysis ; Weights and Measures

PURPOSE: Internal mammary lymph node (IMLN) metastasis is an important prognostic indicator in breast cancer. However, the necessity of internal mammary sentinel lymph node biopsy for accurate staging, for choosing adjuvant treatment, and as a prognostic indicator, has remained controversial. METHODS: From January 2001 to December 2006, 525 female breast cancer patients underwent radical surgery after preoperative lymphatic scintigraphy. We retrospectively analyzed the follow-up results, recurrences, and deaths of all patients. RESULTS: There was no significant difference in the clinicopathological characteristics between the axilla and the IMLN groups. The median follow-up period was 118.8 months (range, 7-122 months) in the axilla group and 107.7 months (range, 14-108 months) in the IMLN group. During the median follow-up period, the breast cancer-related death rate in the axilla group was 3.6%, which was not significantly different from that of the IMLN group (1.3%) (p=0.484). The five-year survival rates did not differ between the two groups (p=0.306). The overall recurrence rate and the locoregional recurrence rate also did not differ between the two groups (p=0.835 and p=0.582, respectively). The recurrence rate of IMLN (both ipsilateral and contralateral) metastasis was very low, accounting for 0.5% in the axilla group and 1.3% in the IMLN group (p=0.416). CONCLUSION: The long-term follow-up results showed that there was no significant difference in both overall outcome and regional recurrence between the two groups. Therefore, the requirement for identification of nodal basins outside the axilla or IMLN sentinel biopsy should be reconsidered.
Accounting ; Axilla ; Biopsy ; Breast ; Breast Neoplasms ; Female ; Follow-Up Studies ; Humans ; Lymph Nodes ; Lymphoscintigraphy ; Neoplasm Metastasis ; Nitriles ; Prognosis ; Pyrethrins ; Recurrence ; Retrospective Studies ; Sentinel Lymph Node Biopsy ; Survival Rate

PURPOSE: Mucinous carcinoma (MC) of the breast is a rare histologic type of mammary neoplasm. The objective of this study was to evaluate the long-term disease-free survival (DFS) and overall survival (OS) of MC. METHODS: We conducted a retrospective analysis of all MC cases reported to a database between 1994 and 2010. Clinicopathological characteristics and survival of 268 MC cases were reviewed and compared with 2,455 invasive ductal carcinoma-not otherwise specified (IDC-NOS) cases. RESULTS: The MC cases were of a younger age, involved less lymph nodes, lower stage, more expression of hormonal receptors, and less HER2 overexpression compared to the IDC-NOS cases. The 5-year DFS rate for MC was 95.2% compared to 92.0% for IDC-NOS. The 5-year OS rate for MC was 98.9% compared to 94.9% for IDC-NOS. Multivariate analysis using Cox regression revealed that the mucinous type was a significant prognostic factor for DFS with lower nodal status (N stage) and hormonal therapy. For OS, only N stage was the most significant prognostic factor followed by adjuvant chemotherapy and adjuvant hormonal therapy. CONCLUSION: MC was shown to be associated with a better DFS than IDC-NOS, but it had a similar OS. Nodal status and adjuvant therapy appear to be more significant predictors of prognosis than histologic subtype.
Adenocarcinoma ; Adenocarcinoma, Mucinous ; Animals ; Breast ; Chemotherapy, Adjuvant ; Disease-Free Survival ; Lymph Nodes ; Mammary Neoplasms, Animal ; Mucins ; Multivariate Analysis ; Prognosis ; Retrospective Studies

Occult breast cancer is a type of breast cancer without any symptoms on the breasts or any abnormalities upon radiologic examination such as mammography. In males, there are few cases of breast cancer, the rate of diagnosis of occult breast cancer is very low, and little is known about this disease. We experienced two cases of occult breast cancers manifesting as axillary lymph node metastasis in men. They had a palpable lesion on axillary area several years ago and had not seen a doctor about it. As such there was no abnormality on evaluations for cancer except for axillary lymph node showing signs of carcinoma (primary or metastatic) on biopsy and estrogen receptor-positive and progesterone receptor-positive on immunohistochemistry. The patients were diagnosed with occult breast cancer, and treatments were performed. Herein, we report the rare cases of occult breast cancers in men.
Axilla ; Biopsy ; Breast ; Breast Neoplasms ; Estrogens ; Humans ; Immunohistochemistry ; Lymph Nodes ; Male ; Mammography ; Neoplasm Metastasis ; Neoplasms, Unknown Primary ; Progesterone

BACKGROUND: Prospective access flow measurement is the preferred method for vascular access surveillance in hemodialysis (HD) patients. We studied the effect of intradialytic change in blood pressure and ultrafiltration volume on the variation in access flow measured by ultrasound dilution. METHODS: Access flow was measured 30 minutes, 120 minutes, and 240 minutes after the start of HD by ultrasound dilution in 30 patients during 89 HD sessions and evaluated for variation. RESULTS: The mean age of the 30 patients was 62 +/- 11 years: 19 were male. The accesses comprised 16 fistulae and 14 grafts. The mean access flow over all sessions decreased by 6.1% over time (1265 +/- 568 mL/min after 30 minutes, 1260 +/- 599 mL/min after 120 minutes, and 1197 +/- 576 mL/min after 240 minutes, P < 0.01 by repeated measures ANOVA). In addition, a > or = 5% decrease in mean arterial pressure during HD significantly reduced access flow (P = 0.014). However, no other variable (ultrafiltration volume, sex, age, presence of diabetes, type or location of access, body surface area, hemoglobin, serum albumin level) interacted significantly with the effect of time on access flow. Furthermore, mean arterial pressure did not correlate with ultrafiltration volume. CONCLUSION: We conclude that the variation in access flow during HD is relatively small. Decreased blood pressure is a risk factor for variation in access flow measured by ultrasound dilution. In most patients whose blood pressures are stable during HD, the access flow can be measured at any time during the HD treatment.
Arterial Pressure ; Arteriovenous Fistula ; Blood Pressure ; Body Surface Area ; Fistula ; Hemoglobins ; Humans ; Male ; Renal Dialysis ; Risk Factors ; Serum Albumin ; Transplants ; Ultrafiltration