No abstract available.
Carbon Dioxide* ; Carbon* ; Foreign Bodies* ; Foreign-Body Reaction ; Granuloma ; Lasers, Gas* ; Lip*

BACKGROUND: We intended to find the mutations of von Willebrand factor (VWF) gene as the most important contributing factor of von Willebrand disease (VWD) in Korean patients. METHODS: In 40 known vWD patients mutations of vWF gene were sought by direct sequencing of PCR products targeting exons 18, 19, 20, 26, 28 and 52 frequently implicated as the locations of mutation. For factors other than VWF gene contributing to VWD phenotype, we tested ABO blood group and measured ADAMTS13 activity in VWD patients. RESULTS: Twenty-seven cases (67.5%) were type 1 vWD, 3 cases (7.5%) type 3, and 5 cases (12.5%) type 2A. Three cases were type 2A or 2B (7.5%) and 2 cases were suspected to be type 2N (5.0%). Among them six candidate missense mutations were found: V1279I, R1306W, R1308C, and V1316M were previously reported in type 2B and type 1 vWD, and C858W and T1477I were novel findings. All patients were heterozygotes. Blood group O was overly represented in VWD patients, while ADAMTS13 activity of the patients was not significantly different from that of normal control. CONCLUSIONS: Mutation of VWF gene detected by genetic studies can significantly improve the diagnostic accuracy, especially in subtype assignment of VWD. Two novel mutations, C858W and T1477I associated with VWD were found and expected to contribute to the elucidation of its pathophysiology.
ABO Blood-Group System ; ADAM Proteins/analysis ; Heterozygote ; Humans ; Korea ; *Mutation, Missense ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Sequence Analysis, DNA ; von Willebrand Disease/classification/diagnosis/*genetics ; von Willebrand Factor/analysis/*genetics

BACKGROUND: The Coapresta 2000 (Sekisui Medical CO., LTD, Japan) is a fully automated random-access multiparameter hemostasis coagulation analyzer, which is equipped with a photo-optical clot detection unit and a cap-piercing system. It is able to perform clotting time assays as well as colorimetric assays (synthetic substrate method and latex turbidimetric method). In this study, we evaluated the analytical performance of the Coapresta 2000 for coagulation test items and compared with that of the ACL-TOP (Instrumentation Laboratory, Lexingtion, MA, USA) analyzer, which is currently used for routine coagulation test items in our hospital. METHODS: The Coapresta 2000 was evaluated with respect to its technical characteristics in the determination of 8 routine coagulation test items: prothrombin time, activated partial thromboplastin time, fibrinogen, fibrin-degradation product (FDP) antithrombin III, D-dimer, factors VIII and IX. Analyse-it (Analyse-it Software Ltd, UK) and SigmaStat (Systat Software, Inc., USA) were used for statistical analysis between items on the Coapresta 2000 and the ACL-TOP analyzer. RESULTS: The intra-assay and inter-assay coefficients of variation (CV) were below 5% for both groups of samples having values within the reference interval and outside the reference interval. Significant interference was observed with hemolytic and icteric samples. Carryover was not detected. The results obtained by Coapresta 2000 were well correlated with those obtained by the ACL-TOP analyzer (r2 in the range from 0.781 to 0.969). CONCLUSIONS: We concluded that Coapresta 2000 analyzer was well correlated with ACL-TOP analyzer for the routine coagulation test items tested.
Antithrombin III ; Fibrin Fibrinogen Degradation Products ; Fibrinogen ; Hemostasis ; Latex ; Partial Thromboplastin Time ; Prothrombin Time

OBJECTIVE: To investigate the serum vitamin D level and its determinant factors in stroke patients. METHODS: Fifty-one stroke patients who had documented serum level of 25-hydroxyvitamin D(25(OH)D) were included. Patients were divided into subacute (n=23) and chronic groups (n=28). The mean levels of 25(OH)D of the two groups were compared. Correlations between each 25(OH)D level and post-stroke duration were also analyzed. To assess other possible influencing factors, patients were subdivided by ambulation ability and feeding methods for comparison of 25(OH)D level. RESULTS: The mean level of 25(OH)D was significantly lower in the chronic group than in the subacute group (12.3 vs. 16.3 ng/mL; p < 0.05). The serum 25(OH)D level decreased according to the duration after stroke (r=−0.52, p=0.01). Patients with a history of total parenteral nutrition had lower 25(OH)D levels than subjects who had enteral nutrition in the subacute group (7.3 vs. 18.8 ng/mL; p < 0.01). However, the levels of 25(OH)D were not different between the oral feeding and tube feeding groups. Among the chronic group subjects, patients who could walk without assistance had higher 25(OH)D levels than non-ambulatory patients (ambulatory vs. non-ambulatory group; 18.3 vs. 11.3 ng/mL; p < 0.05). CONCLUSION: After stroke onset, serum vitamin D level decreases with time regardless of feeding methods, and total parenteral nutrition may aggravate its deficiency. In terms of long-term care, non-ambulatory patients might be at a higher risk of vitamin D deficiency. Supplementation of vitamin D should be considered especially for stroke patients who are non-ambulatory and on total parenteral nutrition.
Enteral Nutrition ; Feeding Methods ; Humans ; Long-Term Care ; Parenteral Nutrition, Total ; Stroke* ; Vitamin D Deficiency ; Vitamin D* ; Vitamins* ; Walking

OBJECTIVE: To investigate the serum vitamin D level and its determinant factors in stroke patients. METHODS: Fifty-one stroke patients who had documented serum level of 25-hydroxyvitamin D(25(OH)D) were included. Patients were divided into subacute (n=23) and chronic groups (n=28). The mean levels of 25(OH)D of the two groups were compared. Correlations between each 25(OH)D level and post-stroke duration were also analyzed. To assess other possible influencing factors, patients were subdivided by ambulation ability and feeding methods for comparison of 25(OH)D level. RESULTS: The mean level of 25(OH)D was significantly lower in the chronic group than in the subacute group (12.3 vs. 16.3 ng/mL; p < 0.05). The serum 25(OH)D level decreased according to the duration after stroke (r=−0.52, p=0.01). Patients with a history of total parenteral nutrition had lower 25(OH)D levels than subjects who had enteral nutrition in the subacute group (7.3 vs. 18.8 ng/mL; p < 0.01). However, the levels of 25(OH)D were not different between the oral feeding and tube feeding groups. Among the chronic group subjects, patients who could walk without assistance had higher 25(OH)D levels than non-ambulatory patients (ambulatory vs. non-ambulatory group; 18.3 vs. 11.3 ng/mL; p < 0.05). CONCLUSION: After stroke onset, serum vitamin D level decreases with time regardless of feeding methods, and total parenteral nutrition may aggravate its deficiency. In terms of long-term care, non-ambulatory patients might be at a higher risk of vitamin D deficiency. Supplementation of vitamin D should be considered especially for stroke patients who are non-ambulatory and on total parenteral nutrition.
Enteral Nutrition ; Feeding Methods ; Humans ; Long-Term Care ; Parenteral Nutrition, Total ; Stroke* ; Vitamin D Deficiency ; Vitamin D* ; Vitamins* ; Walking

BACKGROUND: Although the pericentric inversion of chromosome 9, inv(9)(p11q13), is generally considered a normal variation, it is also associated with solid tumors and several hematologic malignancies such as biphenotypic acute leukemia, ALL, AML, and myeloproliferative neoplasms. However, to the best of our knowledge, there have been no reports that suggest an association between CML and constitutional pericentric inversion of chromosome 9. The purpose of this retrospective study was to investigate the frequency and clinical features of CML patients with concomitant inv(9) and t(9;22)(q34;q11.2) variation at our institution. METHODS: We reviewed the bone marrow chromosome database entries between October 2006 and December 2008 to identify patients with concomitant inv(9) and t(9;22) variations. Laboratory and clinical data of the patients were obtained from the electronic medical record system. RESULTS: Among the 51 CML patients, 4 (7.8%) had concomitant inv(9) and t(9;22) variations. CONCLUSIONS: Although the association between inv(9) variation and CML is still controversial, we believe that hematologists should consider the role of constitutional inv(9) variation in CML patients to avoid overlooking the impaired engraftment potential of hematopoietic stem cells harboring inv(9). Therefore, we suggest that more effort should be invested to develop cytogenetic tests for detecting constitutional inv(9) variation in CML patients.
Adult ; Asian Continental Ancestry Group/*genetics ; Centrosome ; *Chromosome Inversion ; *Chromosomes, Human, Pair 9 ; Female ; Humans ; Karyotyping ; Leukemia, Myeloid, Acute/diagnosis/*genetics ; Male ; Middle Aged ; Republic of Korea ; Retrospective Studies ; Translocation, Genetic

BACKGROUND: Exon deletions of Duchenne muscular dystrophy (DMD) gene account for most of the alterations found in DMD and Becker muscular dystrophy (BMD). This study was to evaluate the usefulness of dual priming oligonucleotide multiplex PCR (DPO PCR) in detection of exon deletions of DMD gene. METHODS: Thirty-seven DMD or BMD patients who had known exon deletions detected by conventional multiplex PCR (conventional PCR) and nine control subjects were enrolled in this study. When a discrepancy was shown between the results of conventional PCR and DPO PCR, the multiplex ligation-dependent probe amplification (MLPA) technique was performed as a confirmation test. RESULTS: The same deletions previously identified by conventional PCR in 32 out of 37 subjects were also detected by DPO PCR. For the five subjects (13.5%) showing discrepant results between the conventional PCR and DPO PCR, MLPA was performed and its results were found to correlate better with those of DPO PCR. The discrepancies were due to false positive or false negative results of the conventional PCR. CONCLUSIONS: DPO PCR shows a high agreement of results with the conventional PCR and is considered an adequate method to be used as a primary genetic test for the diagnosis of DMD. Because of an improved accuracy, especially for determining the boundaries of DMD gene deletions, DPO PCR can be very useful as a supplement to the conventional PCR.
*DNA Mutational Analysis ; DNA Primers ; Dystrophin/*genetics ; Female ; Gene Deletion ; Genetic Screening ; Humans ; Male ; Muscular Dystrophy, Duchenne/*diagnosis/genetics ; Nucleic Acid Amplification Techniques ; Oligonucleotide Probes ; Polymerase Chain Reaction/*methods ; Reagent Kits, Diagnostic ; Reproducibility of Results

OBJECTIVE: To identify different contributions of motor and sensory variables for independent ambulation of patients with incomplete spinal cord injury (SCI), and reveal the most significant contributors among the variables. METHODS: The retrospective study included 30 patients with incomplete SCI and lesions were confirmed by magnetic resonance imaging. Motor and sensory scores were collected according to the International Standards for Neurological Classification of Spinal Cord Injury. The variables were analyzed by plotting ROC (receiver operating characteristic) curves to estimate their differential contributions for independent walking. The most significant functional determinant was identified through the subsequent logistic regression analysis. RESULTS: Motor and sensory scores were significantly different between the ambulators and non-ambulators. The majority was associated to the function of lower extremities. Calculation of area under ROC curves (AUC) revealed that strength of hip flexor (L2) (AUC=0.905, p < 0.001) and knee extensor (L3) (AUC=0.820, p=0.006) contributed the greatest to independent walking. Also, hip flexor strength (L2) was the single most powerful predictor of ambulation by the logistic regression analysis (odds ratio=6.3, p=0.049), and the model fit well to the data. CONCLUSION: The most important potential contributor for independent walking in patients with incomplete SCI is the muscle strength of hip flexors, followed by knee extensors compared with other sensory and motor variables.
Classification ; Gait* ; Hip ; Humans ; Knee ; Locomotion ; Logistic Models ; Lower Extremity ; Magnetic Resonance Imaging ; Muscle Strength ; Rehabilitation ; Retrospective Studies ; ROC Curve ; Sensation ; Spinal Cord Injuries* ; Spinal Cord* ; Walking

PURPOSE: To introduce a novel adjuvant technique to locate cyclodialysis cleft using a laser pointer in a gonioscopic view. CASE SUMMARY: A 36-year-old man complaining of blurred vision in his left eye after blunt trauma 2 weeks prior was referred to our hospital. Gonioscopy showed a cyclodialysis cleft from 3 to 4 o'clock and fundus revealed hypotonic maculopathy. After the failure of medical treatment, we tried various interventions such as injection of viscoelastic agent into the anterior chamber and intravitreal gas tamponade with transconjunctival cryotherapy. Since those were not successful, we decided to treat the patient with direct cyclopexy. For the preoperative localization of the cleft, we tried a new technique that uses a laser pointer. On gonioscopic examination, an assistant shot the laser toward the limbal area where the suspicious cleft was located. We were able to precisely locate the cyclodialysis cleft if the laser pointer light was seen through the cleft in the gonioscopic view. With the aid of a laser a pointer, the cleft was successfully closed. CONCLUSIONS: Localization with a laser pointer is simple, safe, rapid, and helpful for planning surgical repair of a cyclodialysis cleft without expensive equipment.
Adult ; Anterior Chamber ; Cryotherapy ; Gonioscopy ; Humans ; Methods*

The coexistence of CCND1/IGH and MYC rearrangements in mantle cell lymphoma (MCL) is a rare finding associated with a very poor prognosis. In this study, a patient with blastoid variant (MCL) is reported. The disease was clinically aggressive and refractory to chemotherapy, and the patient only survived for 1 month following diagnosis. Conventional cytogenetic study, FISH, and multicolor FISH (mFISH) demonstrated the involvement of the BCL1/CCND1 locus in a complex translocation, t(3;11)(q25;p15)t(11;14)(q13;q32). In addition, subclonal abnormalities in the 8q24 region, manifested as a t(8;14)(q24;q32)/MYC rearrangement, were identified. To the best of our knowledge, this is the first MCL case in Korea bearing these complex genomic aberrations.
Aged, 80 and over ; Antigens, CD5/*metabolism ; Bone Marrow/immunology/metabolism ; Chromosomes, Human, Pair 11 ; Chromosomes, Human, Pair 14 ; Chromosomes, Human, Pair 3 ; Gene Rearrangement ; Humans ; Immunophenotyping ; In Situ Hybridization, Fluorescence ; Lymphoma, Mantle-Cell/*diagnosis/genetics/immunology ; Male ; Oncogene Proteins, Fusion/*genetics ; Proto-Oncogene Proteins c-myc/*genetics ; Translocation, Genetic