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Penicillium marneffei is the only dimorphic fungus among Penicillium spp. that can cause a fatal infection in immunocompromised patients. P. marneffei is endemic in Southeast Asia and eastern China. P. marneffei infection is an AIDS-defining illness and the third most common opportunistic infection in the endemic regions. Here, the authors report a case of disseminated P. marneffei infection in a patient who underwent liver transplantation in China. During the hospital stay, the mold form of the fungus that produced a red wine-colored pigment on the agar plate was isolated from the patient's urine, transtracheal aspirate, and blood. The fungus was identified as P. marneffei by direct sequencing of the D1-D2 and ITS regions. Thermal dimorphism was also confirmed by subculturing the colony at 37 degrees C. To the best of our knowledge, this is the first Korean case of disseminated P. marneffei infection in a liver transplant recipient.

Background: Bisalbuminemia is a hereditary or an acquired condition characterized by the presence of 2 albumin variants with different mobilities on serum protein electrophoresis (SPE). The clinical significance of bisalbuminemia has not been clearly established. However, some regions of the albumin variant may affect the biochemical analysis of biomolecules such as steroid or thyroid hormones by altering their albumin-binding affinities. In this study, we analyzed the clinical manifestations, genetic variations, and the albumin-binding characteristics in Korean patients with bisalbuminemia., Methods: We performed SPE for samples from 580 Korean subjects and identified bisalbuminemia on the basis of the results of SPE. The clinical and biochemical characteristics, ALB gene mutations, and the structures of the albumin variants of patients with bisalbuminemia were analyzed., Results: SPE showed bisalbuminemia in 2 patients. One patient showed a genetic variation known as Nagasaki-1 (Asp293Gly) and the other showed a hitherto unreported missense mutation (c.593A>T; Lys198Ile). In both cases, the serum concentrations of the substances with binding affinity for albumin were not affected, and the mutation sites of the albumin were not located with the protein-binding loci., Conclusions: The 2 Korean patients with bisalbuminemia showed genetic variations, including a novel missense mutation. The ALB gene analysis with 3D modeling is useful for determining the nature of bisalbuminemia and for predicting the effects on the albumin-binding affinity of other biochemical compounds.

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.

Background: Becton Dickinson (BD) Vacutainer tubes are the most widely used vacuum system for collection of blood in clinical laboratories. We compared the performance of two new tubes, Sekisui INSEPACK tube and Green Cross Green Vac-Tube, with the existing BD Vacutainer tubes for 49 common analytes., Methods: A total of 20 apparently healthy volunteers were recruited for this study. For rountine chemistry and thyroid function tests, we compared the results of two new vacutainer tubes and BD Vacutainer tubes with those of BD glass tubes at t=0 hr by student paired t test. Hematology and coagulation test results of the two new vacutainer tubes were compared with those of BD Vacutainer tubes at t=0 hr. To study the stability of each analyte, results at t=24 +/- 2 hr, t=72 +/- 2 hr, and t=168 +/- 2 hr were compared with those at t=0 hr for each tube., Results: Although paired t test analysis revealed statistically significant differences between two tested tubes and existing BD Vacutainer tube in several tests (total protein, total bilirubin, alkaline phosphatase, glucose, uric acid, calcium, inorganic phosphorus, direct bilirubin, triglyceride, HDL-cholesterol, LDL-cholesterol, lactate dehydrogenase, triiodothyronine, and thyroxine), these differences were not considered clinically significant. Stability of two new vacuum tubes for each analyte was similar to that of the BD Vacutainer tube., Conclusions: Sekisui INSEPACK tube and Green Cross Green-Vac Tube showed a satisfactory analytical performance compared with existing BD Vacutainer tubes. We conclude that these two new plastic vacutainer tubes are acceptable for the commonly ordered laboratory tests.

Wilson disease (WD) is one of the most common inborn errors of metabolism characterized by degenerative changes in the brain, liver and kidney dysfunction, and Kayser-Fleischer rings due to toxic accumulation of copper. We investigated a Korean family with WD occurred in two consecutive generations. The proband, a 14-yr-old girl, was noticed to have abnormal liver function on a routine health examination at school and was diagnosed of having WD by further laboratory tests and liver biopsy. Molecular genetic analysis of ATP7B gene demonstrated that she was homozygous for Ala-874Val mutation, one of the three common mutations in Korean patients with WD. Further study for her family members revealed that the proband's father, a paternal uncle, and the youngest sister were compound heterozygous for Ala874Val and Asn1270Ser mutations of the ATP7B gene. In addition, the proband's mother and a younger sister were heterozygous carriers of Ala874Val mutation. Therefore, WD occurred in two consecutive generations due to a WD father and a heterozygous mother. Actually, abnormal results on liver function tests were found in the proband's father and a paternal uncle a few years ago but a diagnosis of WD has not been made. Therefore, although WD has been thought to be uncommon in Korea, it should be considered in a differential diagnosis of patients exhibiting abnormal liver function with unknown cause.

Background: With the progress of the Human Genome Project, genetic testing has become widely available and useful for the confirmation and treatment planning of various conditions. Additionally, the need for genetic counseling and consultation service has been increasing. We tried to establish and manage a medical genetic clinic within the department of laboratory medicine by using a genetic testing network., Methods: An Inter-laboratory network has been organized between Soonchunhyang University Bucheon Hospital and Samsung Medical Center since January, 2005. As clinical laboratory physicians, we provide medical services ranging from genetic counseling to genetic testing. In this study we surveyed the need and demand for genetic consultation services using a questionnaire., Results: Of the 30 cases that were requested to receive a genetic consultation, 24 were referred to the genetic clinic during the last 11 months. Of these, 18 underwent genetic tests. The request for genetic consultation came mainly from neurology, obstetrics, and pediatrics departments and the distribution of requested disease entities was very heterogeneous. Operating processes became more settled compared to the early period and specific work fields were secured in the genetic consultation services. Over 80% of the respondents replied that a medical genetic clinic was important and that public relations campaign should be continued., Conclusions: Establishment of a medical genetic clinic by using a genetic testing network has led to important changes that the department of laboratory medicine is most suitable for genetic testing and medical genetic consultations and laboratory physicians should be concerned in that field. A medical genetic consultation system based on extensive genetic information and knowledge could enhance opportunities for cooperation in genetic research.

Background: Glucometer is a most widely-used point-of-care testing (POCT) analyzer and plays an important role in diabetes management. We evaluated the performance of the recently developed glucometer, COSMOsensor (Cosmogenome Inc., Seoul, Korea), comparing it with three foreign-made glucometers., Methods: COSMOsensor was evaluated for linearity, precision, comparison of method and analysing time as well as the effect of operator. Other glucometers, Accu-Chek inform (Roche Diagnostics LTD., Mannheim, Germany), Precision(TM)PCx (Abbott Laboratories, Bedford, MA, USA), and SureStep(R)Flexx (LifeScan Inc., Milpitas, CA, USA) were evaluated for the same categories according to NCCLS guidelines., Results: All four glucometers showed a good linearity (r>/=0.9814) and the within-run and total-run coefficients of variation (CVs) were within 3.5%. A high correlation (r>/=0.9659) was also found between the glucometers and Hitachi 7600 (Hitachi Co., Tokyo, Japan) in the central laboratory. Although differences with the reference method were within an allowable range, all glucometers showed variable bias compared with the reference method., Conclusions: The COSMOsensor showed a good analytical performance in linearity, precision, and correlation with the reference method, when compared with other foreign-made glucometers. Its rapid turnaround time and easy operation are appropriate for diabetes management and a rapid POCT analyzer. All glucometers showed variable biases, which might be due to different calibration status.