Menkes disease is an X-linked recessively inherited neurodegenerative disorder of copper metabolism leading to death in early childhood. This disease is characterized by low serum, liver and brain Cu levels, whereas the Cu content in nearly all other organs is increased. The main clinical features are irregular kinky hair, characteristic face, progresssive degeneration of the central nervous system, bone changes, arterial rupture and thrombosis, and instability of temperature. We have experienced a case of Menkes disease in a eight months old male patient, who manifested by seizure, developmental delay, hypotonia, characteristic hair and face along with low levels of serum copper and ceruloplasmin. We report the characteristic findings of cranial MRI and MR angiography in this Menke's patient. In cranial MRI, he showed progressive brain atrophy with subdural hemorrhage and effusion. MR angiography revealed tortuosity of vessels clearly obviating necessity of more invasive conventional arteriography in diagnosis of this disease. This study suggested that cranial MRI and especially MR angiography might be helpful in making early diagnosis of this disease.
Angiography ; Atrophy ; Brain ; Central Nervous System ; Ceruloplasmin ; Copper ; Diagnosis ; Early Diagnosis ; Hair ; Hematoma, Subdural ; Humans ; Liver ; Magnetic Resonance Imaging ; Male ; Menkes Kinky Hair Syndrome ; Metabolism ; Muscle Hypotonia ; Neurodegenerative Diseases ; Rupture ; Seizures ; Thrombosis

BACKGROUND: Elecsys 2010 immunoassay system is based on the electrochemiluminescence immunoassay using a ruthenium (II) tris (bipyridyl) label. Since it was the first time to use the system in our laboratory, we would like to evaluate the analytical performances (precision, linearity and recovery rate) and correlation with radioimmunoassay (RIA) and microparticle enzyme immunoassay (MEIA) methods. METHODS: We used precicontrol tumor marker (TM1, TM2) for alpha-fetoprotein (AFP), prostatic specific antigen (PSA) and carcinoembryonic antigen (CEA), Precicontrol universal (Ul, U2) for triiodothyronine (T3) and thyroxine (T4), Precicontrol-TSH for thyrotropin (TSH) and pooled serum for the evaluation of precision and recovery rate. Patients' sera were used for the linearity and comparison study. RESULTS: The coefficients of variatron of Imprecision study were below; 4.0%, 8.7% and 10.2%, respectively in the within-run, within-day and between-day analysis. The recovery rates were 100.5%, 96.1% and 102.5%, respectively in T4, TSH, and AFP. The linearity were y=1.02x-0.182(r=0.99) for T4, y=1.01x+0.12 (r=0.99) for TSH and y=1.01x+0.54(r=1.00) for AFP. T3, T4, TSH, CEA and PSA results showed good correlation with RIA (r>0.90), but AFP showed r=0.88. Also, AFP, CEA and PSA results showed excellent correlation with AxSYM (r>0.99). CONCLUSION: Elecsys 2010 immunoassay system showed excellent precision, recovery rate, clinically acceptable linearity and good correlation with the results obtained by RIA and MEIA methods.
alpha-Fetoproteins ; Carcinoembryonic Antigen ; Immunoassay* ; Immunoenzyme Techniques ; Radioimmunoassay ; Ruthenium ; Thyrotropin ; Thyroxine ; Triiodothyronine

PURPOSE: This study was tried to evaluate the potential benefits of concurrent chemoradiation therapy (low dose daily cisplatin combined with split course radiation therapy) compared with conventional radiation therapy alone in stage III non-small cell lung cancer. The end points of analyses were response rate, overall survival, survival without locoregional failure, survival without distant metastasis, prognostic factors affecting survival and treatment related toxicities. MATERIAL AND METHODS: Between April 1992 and March 1994, 32 patients who had stage III non-small cell lung cancer were treated with concurrent chemoradiation therapy. Radiation therapy for 2 weeks (300cGy given 10 times up to 3000cGy) followed by a 3 weeks rest period and then radiation therapy for 2 more weeks (250cGy given 10 times up to 2500cGy) was combined with 6mg/M2 of cisplatin. Follow-up period ranged from 13 months to 48 months with median of 24 months. Historical control group consisted of 32 patients who had stage III non-small cell lung cancer were received conventionally fractionated (daily 170-200cGy) radiation therapy alone. Total radiation dose ranged from 5580cGy to 7000cGy with median of 5940 cGy. Follow-up period ranged from 36 months to 105 months with median of 62 months. RESULTS: Complete reponse rate was higher in chemoradiation therapy (CRT) group than radiation therapy (RT) group (18.8% vs. 6.3%). CRT group showed lower in-field failure rate compared with RT group (25% vs. 47%). The overall survival rate had no significant differences in between CRT group and RT group (17.5% vs. 9.4% at 2 years). The survival without locoregional failure (16.5% vs. 5.3% at 2 years) and survival without distant metastasis (17% vs. 4.6% at 2 years) also had no significant differences. In subgroup analyses for patients with good performance status (Karnofsky performance scale 80), CRT group showed significantly higher overall survival rate compared with RT group (62.5% vs. 15.6% at 2 years). The prognostic factors affecting survival rate were performance status and pathologic subtype (squamous cell cancer vs. nonsquamous cell cancer) in CRT group. In RT alone group, performance status and stage (IIIa vs IIIb) were identified as a prognostic factors. RTOG/EORTC grade 2-3 nausea and vomiting (22% vs. 6%) and bone marrow toxicities (25% vs. 15.6%) were significantly higher in CRT group compared with RT alone group. The incidence of RTOG/EORTC grade 3-4 pulmonary toxicity had no significant differences in between CRT group and RT group (16% vs. 6%). The incidence of WHO grade 3-4 pulmonary fibrosis also had no significant differences in both group (38% vs. 25%). In analyses for relationship of field size and pulmonary toxicity, the patients who treated with field size beyond 200cm2 had significantly higher rates of pulmonary toxicities. CONCLUSION: The CRT group showed significantly higher local control rate than RT group. There were no significant differences of survival rate in between two groups. The subgroup of patients who had good performance status showed higher overall survival rate in CRT group than RT group. In spite of higher incidence of acute toxicities with concurrent chemoradiation therapy, the survival gain in subgroup of patients with good performance status were encouraging. CRT group showed higher rate of early death within 1 year, higher 2 year survival rate compared with RT group. Therefore, to evaluate the accurate effect on survival of concurrent chemoradiation therapy, systematic follow-up for long term survivors are needed.
Bone Marrow ; Carcinoma, Non-Small-Cell Lung* ; Cisplatin ; Follow-Up Studies ; Humans ; Incidence ; Nausea ; Neoplasm Metastasis ; Pulmonary Fibrosis ; Survival Rate ; Survivors ; Vomiting

Mucin-hypersecreting biliary neoplasm excretes excessive mucin that fills the biliary tree and results in marked dilatation of the bile ducts and obstructive jaundice. In these neoplasm, the mucin produced by the tumor rather than the tumor itself plays an important role in clinical course and radiologic patterns. The purpose of this paper is to report characteristic radiologic patterns of mucin-hypersecreting biliary neoplasms in two cases. These neoplasms were characterized by not only multilocular cystic hepatic mass or extra-hepatic bile duct mass resulting in marked biliary dilatation distal to the mass on US or CT, but also change of shape and extent of amorphous filling defects in the markedly dilated bile duct on serial cholangiograms.
Bile Ducts ; Biliary Tract ; Dilatation ; Jaundice, Obstructive ; Mucins

The purpose of this study was to investigate the intakes and perceptions of convenient breakfast related to age and family type. The survey included 545 men and women living in Seoul from June to July. Questionnaire items covered their age, gender, family types, breakfast intakes and preference for convenient breakfast menu. As a result, there were significant differences in the number of breakfast intakes per week according to family types; large families recorded the highest frequency in "I have breakfast everyday" and the couple-only families and nuclear families scored relatively high numbers. In terms of the type of breakfast, the first choice was "rice and side dishes" across all the age groups (69.3%). There were differences in the preference of convenient breakfast in "bread", "cereal", "rice cake", "sunsik", and "rice gruel" by different age. The teens exhibited the highest preference of bread (5.63), and cereal (5.53) for breakfast; those who were in their fifties for rice cake (5.42). Both forties and fifties showed the higher preference of sunsik (4.58, 4.76) and rice gruel (5.89, 5.77) than other age groups. As for the preference for convenient breakfast according to family types, single person families displayed the highest preference of bread (5.42) and cereal (5.75). Couple families showed higher preference of rice gruel (5.82) than other family groups. The preference level for "rice cake" was similar among all the family types. As a result, it is suggested that the development of various breakfast menus considering age groups and family types is needed so that modern people can enjoy breakfast in terms of quality and quantity in their busy daily life.
Adolescent ; Bread ; Breakfast ; Edible Grain ; Female ; Humans ; Male ; Nuclear Family ; Surveys and Questionnaires ; Single Person

This study is concerned with a comparison of lower tibial and fibular epiphyseal growth and deformities of the ankles in normal and paralysed children. The data were based on 87 children with residual paralysis due to poliomyelitis an 20 non-paralysed children who were admitted to Severance Hospital and Sam Yook Children's Rehabilitation Center. The difference in level between the lower tibial and fibular ends and between the lower epiphysial lines of the tibia and fibula in X-rays of the ankles were measured in order to investigate the growth pattern of the lower tibio-fibular epiphysis. The difference between the level of the lower ends of the fibula was an avergage of 15.3mm in the normal and 6.2mm in paraysed children. Thus the fibular ends in paralysed limbs was an average of 9.1mm less than that of the normal. The difference between the level of the lower epiphyseal lines of the tibia and the fibula was an average of 13.7mm in normal and 5.5mm in paralysed children. Therefore, the level of the fibular epiphyseal lines in paralysed limbs was sn average of 8.2mm less than that of normal. In paralysed limbs, the lower tibial epiphyses showed lateral epical wedge shaped deformities. The tilting angle of the ankles and the wedging angle of the of the lower tibial epiphyses were measured in erder to investigate the degree of deformities of the ankles and the lower tibial epiphyses in paralysed limbs. The tilting angle of the ankles averaged 1.3° in normal and 7.6° in paralysed limbs. The wedging angle of the lower tibial epiphyses averaged 3.7° in normal and 11.5° in paralysed limbs. In paralysed children, muscle strength examination was performed to clarify the relationship between the degree of growth disturbance and the severity of the muscular paraysis. This lead us to conclude that: 1. In paralysed children, the growth disturbance of the lower fibular epiphyses was greater than that of the lower tibial epiphyses. 2. The difference of the growth disturbance between the tibial and fibular epiphyses was not due to muscle imbalance of the foot invertors and evertors but to muscle weakness. 3. In paraysed children, the shape of the lower tibial epiphyses changed to a wedge shape, a deformity which might be considered secondary to growth disturbance of the fibula. 4. In paralysed children, the lower tibial ends were tilted upward and laterally. This was thought to be the cause of valgus deformities of the ankles. 5. The relationship between the degree of muscle paralysis and the deformities of the ankles was not proved in this study.
Ankle ; Child ; Congenital Abnormalities ; Epiphyses ; Extremities ; Fibula ; Foot ; Humans ; Muscle Strength ; Muscle Weakness ; Paralysis ; Poliomyelitis ; Rehabilitation Centers ; Tibia

No abstract available.
Amnesia, Transient Global* ; Posterior Leukoencephalopathy Syndrome*

PURPOSE: To assess the patterns of myelodysplastic syndrome(MDS) and aplastic anemia(AA) on MRI of the spinal bone marrow and to find the differential points between the two groups. MATERIALS AND METHODS: Fourteen patients with MDS(n=7) and AA(n=7) were studied using magnetic resonance imaging. Sagittal images from the lower thoracic and lumbar vertebral marrow were evaluated on Tl-weighted and STIR images. Five distinct patterns of signal intensity of the Tl-weighted and STIR images were classified. T1 and T2 relaxation times and T1 marrow/fat signal intensity ratio were measured and analyzed (t-test). The cellularity of bone marrow was evaluated on histologic slides. RESULTS: MDS showed homogeneously low signal intensity on T1WI and high signal intensity on STIR image, indicating hypercellular marrow, whereas AA showed relative high signal intensity on T1WI and low signal intensity on STIR image, representing fatty marrow. T1 and T2 relaxation time(T1 for MDS=750.26msec +/- 177.50, T1 for AA= 413.21 msec +/- 167.39 (p<0.000), T2 for MDS=91.86 msec +/- 14.16, T2 for AA=81.44msec +/- 15.31 (p< 0.001) and T1 marrow/fat signal intensity ratio(0.22 +/- 0.048 in MDS, 0.30 +/- 0.083 in AA(p<0.000)) revealed statistically significant difference between the two groups. CONCLUSION: Although the marrow aspiration and needle biopsy are mandatory in hematologic disease for diagnosis, there are limited in assessing the change of total marrow mass. Therefore MRI of bone marrow might be useful in distinguishing MDS from AA because of its ability of representation of total marrow mass.
Anemia, Aplastic* ; Biopsy, Needle ; Bone Marrow ; Diagnosis ; Diagnosis, Differential* ; Hematologic Diseases ; Humans ; Magnetic Resonance Imaging* ; Myelodysplastic Syndromes* ; Relaxation

PURPOSE: To assess the patterns of myelodysplastic syndrome(MDS) and aplastic anemia(AA) on MRI of the spinal bone marrow and to find the differential points between the two groups. MATERIALS AND METHODS: Fourteen patients with MDS(n=7) and AA(n=7) were studied using magnetic resonance imaging. Sagittal images from the lower thoracic and lumbar vertebral marrow were evaluated on Tl-weighted and STIR images. Five distinct patterns of signal intensity of the Tl-weighted and STIR images were classified. T1 and T2 relaxation times and T1 marrow/fat signal intensity ratio were measured and analyzed (t-test). The cellularity of bone marrow was evaluated on histologic slides. RESULTS: MDS showed homogeneously low signal intensity on T1WI and high signal intensity on STIR image, indicating hypercellular marrow, whereas AA showed relative high signal intensity on T1WI and low signal intensity on STIR image, representing fatty marrow. T1 and T2 relaxation time(T1 for MDS=750.26msec +/- 177.50, T1 for AA= 413.21 msec +/- 167.39 (p<0.000), T2 for MDS=91.86 msec +/- 14.16, T2 for AA=81.44msec +/- 15.31 (p< 0.001) and T1 marrow/fat signal intensity ratio(0.22 +/- 0.048 in MDS, 0.30 +/- 0.083 in AA(p<0.000)) revealed statistically significant difference between the two groups. CONCLUSION: Although the marrow aspiration and needle biopsy are mandatory in hematologic disease for diagnosis, there are limited in assessing the change of total marrow mass. Therefore MRI of bone marrow might be useful in distinguishing MDS from AA because of its ability of representation of total marrow mass.
Anemia, Aplastic* ; Biopsy, Needle ; Bone Marrow ; Diagnosis ; Diagnosis, Differential* ; Hematologic Diseases ; Humans ; Magnetic Resonance Imaging* ; Myelodysplastic Syndromes* ; Relaxation

PURPOSE: The purpose of this study was to measure energy expenditure (EE) the metabolic equivalents (METs) of 13 common physical activities by using a portable telemetry gas exchange system (K4b2) and to assess the accuracy of the accelerometer (Actigraph GT3X+) by gender in Korean adults. METHODS: A total of 109 adults (54 males, 55 females) with normal BMI (body mass index) participated in this study. EE and METs of 13 selected activities were simultaneously measured by the K4b2 portable indirect calorimeter and predicted by the GT3X+ Actigraph accelerometer. The accuracy of the accelerometer was assessed by comparing the predicted with the measured EE and METs. RESULTS: EE (kcal/kg/hr) and METs of treadmill walking (3.2 km/h, 4.8 km/h and 5.6 km/h) and running (6.4 km/h) were significantly higher in female than in male participants (p < 0.05). On the other hand, the accelerometer significantly underestimated the EE and METs for all activities except descending stairs, moderate walking, and fast walking in males as well as descending stairs in females. Low intensity activities had the highest rate of accurate classifications (88.3% in males and 91.3% females), whereas vigorous intensity activities had the lowest rate of accurate classifications (43.6% in males and 27.7% in females). Across all activities, the rate of accurate classification was significantly higher in males than in females (75.2% and 58.3% respectively, p < 0.01). Error between the accelerometer and K4b2 was smaller in males than in females, and EE and METs were more accurately estimated during treadmill activities than other activities in both males and females. CONCLUSION: The accelerometer underestimated EE and METs across various activities in Korean adults. In addition, there appears to be a gender difference in the rate of accurate accelerometer classification of activities according to intensity. Our results indicate the need to develop new accelerometer equations for this population, and gender differences should be considered.
Adult* ; Calorimetry, Indirect ; Classification ; Energy Metabolism* ; Female ; Hand ; Humans ; Male ; Metabolic Equivalent ; Motor Activity* ; Running ; Telemetry ; Walking