RESUMEN
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.
Asunto(s)
Anciano de 80 o más Años , Humanos , Masculino , Antígenos CD5/metabolismo , Médula Ósea/inmunología , Cromosomas Humanos Par 11 , Cromosomas Humanos Par 14 , Cromosomas Humanos Par 3 , Reordenamiento Génico , Inmunofenotipificación , Hibridación Fluorescente in Situ , Linfoma de Células del Manto/diagnóstico , Proteínas de Fusión Oncogénica/genética , Proteínas Proto-Oncogénicas c-myc/genética , Translocación GenéticaRESUMEN
BACKGROUND: Toxin immunoassay is widely used for rapid diagnosis of Clostridium difficile-associated diarrhea. The aim of this study was to evaluate the performance of Tox A/B Quik Chek test (TECHLAB, Blacksburg, VA, USA) compared to toxigenic culture. METHODS: From September 2006 to August 2007, 959 stools were examined by Tox A/B Quik Chek test and toxigenic culture (C. difficile culture plus tcdB PCR using colonies obtained from culture). RESULTS: Compared to the results of toxigenic culture, the sensitivity and specificity of Tox A/B Quik Chek test were 47.5% and 97.5%, respectively. CONCLUSION: The sensitivity of Tox A/B Quik Chek test was not high, but the specificity was high. Although Tox A/B Quik Chek test alone is not sufficient to diagnose Clostridium difficile-associated diarrhea, it may aid rapid diagnosis, early treatment and prevention of nosocomial spread of the infection, if supplemented by C. difficile culture or tissue culture cytotoxin assay.
Asunto(s)
Proteínas Bacterianas , Toxinas Bacterianas , Compuestos de Boro , Clostridium , Clostridioides difficile , Diarrea , Diagnóstico Precoz , Enterotoxinas , Inmunoensayo , Técnicas para Inmunoenzimas , Reacción en Cadena de la Polimerasa , Sensibilidad y EspecificidadRESUMEN
BACKGROUND: Cystic fibrosis is a chronic progressive autosomal recessive disorder caused by the CFTR gene mutations. It is quite common in Caucasians, but very rare in Asians. Sweat chloride test is known to be a screening test for the cystic fibrosis due to the fact that electrolyte levels in sweat are elevated in patients. In this study, sweat chloride levels in Korean population were measured and analyzed by using standardized pilocarpine iontophoresis sweat chloride test. METHODS: The sweat chloride test was performed in 47 patients referred to Yondong Severance Hospital from August, 2001 to April, 2007 and 41 healthy volunteers. The sweat chloride tests were conducted according to the CLSI C34-A2 guideline using pilocarpine iontophoresis method, and the chloride concentrations in sweat were measured by mercurimetric titration. RESULTS: Four patients showed sweat chloride concentrations higher than 60 mmol/L. Reference interval was calculated as 1.4-44.5 mmol/L by analysis of the results of healthy volunteers (n=41). Four patients who exhibited high sweat chloride levels, had characteristic clinical features of cystic fibrosis and their diagnoses were confirmed either by repeated sweat chloride test or genetic analysis. CONCLUSIONS: Standardized sweat chloride test can be utilized as a useful diagnostic tool for cystic fibrosis in Koreans. In cases of sweat chloride levels higher than 40 mmol/L, the test should be repeated for the possible diagnosis of cystic fibrosis. All the confirmed Korean cases of cystic fibrosis showed sweat chloride level above 60 mmol/L.
Asunto(s)
Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Cloruros/análisis , Fibrosis Quística/diagnóstico , Iontoforesis/métodos , Corea (Geográfico) , Pilocarpina/química , Análisis de Secuencia de ADN , Sudor/químicaRESUMEN
BACKGROUND: Detection of the viral load of Human Immunodeficiency Virus type 1 (HIV-1) RNA is important for clinical decision making and for determining the prognosis of HIV-infected patients. The aim of the study is to compare the performance of real-time RT-PCR (COBAS AmpliPrep/COBAS TaqMan HIV-1, CAP/CTM, Roche Diagnostics) and the Nucleic Acid Sequence Based Amplification (NucliSens EasyQ HIV-1, NucliSens, BioMerieux) methods for testing Korean HIV-infected patients. METHODS: Among the specimens that were requested to undergo HIV-1 RNA viral load detection from 2005 to 2006, 153 specimens were selected based on the status of the specimens. The CAP/CTM and NucliSens tests were performed according to the manufacturer's instruction. RESULTS: HIV-1 RNA was detected by both tests in 93 specimens. Among the remainder, CAP/CTM detected HIV-1 RNA in 10 specimens, while the same specimens showed results lower than the detection limit with using the NucliSens. Though the results were appropriately correlated (r=0.85, P<0.0001), the mean differences between the two test results were -0.1321 log(10) IU/mL on the Bland-Altman test. CONCLUSION: The methodologic difference or the presence of a HIV subtype may affect the agreement between the two tests. The standardization of methods and the establishment of a linear range for the individual laboratory results may be helpful to obtain accurate test results.