Both Gitelman syndrome and Bartter syndrome are autosomal recessively inherited renal tubular disorders characterized by hypokalemic metabolic alkalosis, salt wasting and normal to low blood pressure. Gitelman syndrome is caused by mutations in the thiazide-sensitive Na- Cl cotransporter (NCCT) and distinguished from Bartter syndrome, which is associated with mutations of several genes, by the presence of hypomagnesemia and hypocalciuria. In most of the patients with Gitelman syndrome, the disease manifests with transient episodes of muscular weakness and tetany in the adult period, but, often, is asymptomatic. We report here an 11 years-old female with Gitelman syndrome who presented with aggravation of epileptic seizure. The diagnostic work-up showed typical clinical features of metabolic alkalosis, hypokalemia, hypomagnesemia and hypocalciuria. We also identified a heterozygote mutation(642CGC(Arg)>TGC(Cys)) and an abnormal splicing in the SLC12A3 gene encoding NCCT.
Adult ; Alkalosis ; Bartter Syndrome ; Child ; Epilepsy* ; Female ; Gitelman Syndrome* ; Heterozygote ; Humans ; Hypokalemia ; Hypotension ; Muscle Weakness ; Tetany

PURPOSE: The distribution of pollens in the air is mainly related to the weather conditions, especially temperature and humidity. This study focused on the evaluation of the relationship between pollen count and the outbreak of allergic diseases (symptom index) from allergic patients in Korea in order to determine Korean own allergy risk grade for the pollen forecasting system. METHODS: Airborne particles carrying allergens were collected daily in nationwide 8 stations (Seoul, Guri, Daejeon, Daegu, Kwangju Busan, Kangneung, and Jeju) by using 7 day- Burkard sampler in South Korea for 8 months (March 1, 2008-October 31, 2008). They were counted and recorded along with weather factors. Symptom index was calculated and recorded by phone calling to allergic patients 3 times a week. RESULTS: Airborne pollens have 2 peak seasons (May and September) in Korea. In the skin prick test, ragweed was the highest sensitization rate (5.9%), followed by mugwort (5.8 %), alder (4.9%), birch (4.8%) and oak grasses among the pollen extracts in Korean school-aged children. There are significant relationship between symptom index of allergic patients and allergic pollen concentrations. Korean own risk grade of pollen allergy was made by using the data from this study. CONCLUSION: Risk grade of pollens for allergy pollen forecast among each allergic plant was established. Further studies are needed to confirm it our result.
Allergens ; Alnus ; Ambrosia ; Artemisia ; Betula ; Child ; Forecasting ; Humans ; Humidity ; Hypersensitivity ; Korea ; Lifting ; Plants ; Poaceae ; Pollen ; Republic of Korea ; Rhinitis, Allergic, Seasonal ; Seasons ; Skin ; Weather

PURPOSE: The distribution of pollens in the air is mainly related to the weather conditions, especially temperature and humidity. This study focused on the evaluation of the relationship between pollen count and the outbreak of allergic diseases (symptom index) from allergic patients in Korea in order to determine Korean own allergy risk grade for the pollen forecasting system. METHODS: Airborne particles carrying allergens were collected daily in nationwide 8 stations (Seoul, Guri, Daejeon, Daegu, Kwangju Busan, Kangneung, and Jeju) by using 7 day- Burkard sampler in South Korea for 8 months (March 1, 2008-October 31, 2008). They were counted and recorded along with weather factors. Symptom index was calculated and recorded by phone calling to allergic patients 3 times a week. RESULTS: Airborne pollens have 2 peak seasons (May and September) in Korea. In the skin prick test, ragweed was the highest sensitization rate (5.9%), followed by mugwort (5.8 %), alder (4.9%), birch (4.8%) and oak grasses among the pollen extracts in Korean school-aged children. There are significant relationship between symptom index of allergic patients and allergic pollen concentrations. Korean own risk grade of pollen allergy was made by using the data from this study. CONCLUSION: Risk grade of pollens for allergy pollen forecast among each allergic plant was established. Further studies are needed to confirm it our result.
Allergens ; Alnus ; Ambrosia ; Artemisia ; Betula ; Child ; Forecasting ; Humans ; Humidity ; Hypersensitivity ; Korea ; Lifting ; Plants ; Poaceae ; Pollen ; Republic of Korea ; Rhinitis, Allergic, Seasonal ; Seasons ; Skin ; Weather

We report an unusual case of acute myelogenous leukemia in a patient who showed an extramedullary relapse in her uterus, without bone marrow recurrence, two years after an allogeneic bone marrow transplant. She complained of irregular vaginal spotting, and magnetic resonance imaging demonstrated a uterine mass. A biopsy revealed a massive infiltration of immature myeloid cells. A variable number of tandem repeats (VNTR) based on an examination of peripheral blood cells showed full donor chimerism. After receiving chemotherapy, her uterine mass had completely resolved. She has remained in complete remission for more than 6 months. This case suggests that physicians should be aware of the possibility of a uterine relapse in female bone marrow transplant recipients with acute myelogenous leukemia.
Adult ; Female ; Hematopoietic Stem Cell Transplantation/*adverse effects ; Human ; Leukemia, Myelocytic, Acute/*pathology/*therapy ; Neoplasm Recurrence, Local ; Sarcoma, Granulocytic/etiology/*pathology ; Uterine Neoplasms/etiology/*pathology

Pollinosis is one of the allergic diseases which caused by airborne pollens from allergic plants, such as allergic rhinitis, asthma, and allergic conjunctivitis. The distribution of pollens in the air is fully related to weather condition, especially temperature and humidity, etc. This study is focused on the evaluation of the relation between pollen count and the outbreak of allergic diseases (symptom index) from allergic patients in Korea and this data would be necessary to evaluate Korean own allergy index for pollen forecasting system. Airborne particles carrying allergens were collected daily from nationwide 8 stations (Seoul, Guri, Daejeon, Daegu, Kwangju, Busan, Kangneung, and Jeju) by using 7 days-Burkard sampler (Burkard Manufacturing Co Ltd, Hertfordshire, UK) for 10 year in South Korea (March 1, 2008-October 30, 2008). They were counted and recorded along with the weather factors. Symptom index was evaluated and recorded by calling to allergic patients daily. Airborne pollen has two peak seasons that is May and September in Korea. The peak season for mold was June. There was the tree pollen seasons from the middle of February to late July, then followed during the grasses and weed season from the middle of July to the end of October. Ragweed was one of the most common pollen of autumn in Korea. In skin prick test, Ragweed was the highest sensitization rate (5.9%), followed by Mugwort (5.8%), alder (4.9%), birch (4.8%), oak grasses among the pollen extracts in Korean school aged children. Ragweed pollen counts were gradually increased since 2000. In same period, sensitization rates for airborne pollen, especially weeds in Korean children were increased annually (1999: 4.4%, 2000: 7.1%, 2001: 7.4%, 2002: 8.5%, 2003: 7.7%). There are significantly related between symptom index from allergic patients and allergic pollen concentrations. Sensitization rates for pollens are increased in Korean children with age. There are significantly related between symptom index from allergic patients and allergic pollen concentrations. Risk Grade of pollen for allergy pollen forecast among each allergic plant was established and still remain to confirm it.
Aged ; Allergens ; Alnus ; Ambrosia ; Antigens, Plant ; Artemisia ; Asthma ; Betula ; Child ; Conjunctivitis, Allergic ; Forecasting ; Fungi ; Humans ; Humidity ; Hypersensitivity ; Korea ; Lifting ; Plant Extracts ; Plants ; Poaceae ; Pollen ; Republic of Korea ; Rhinitis ; Rhinitis, Allergic, Perennial ; Rhinitis, Allergic, Seasonal ; Seasons ; Skin ; Weather

Hepatitis B virus (HBV) reactivation is the frequent complication after cytotoxic chemotherapy in HBsAg-positive non-Hodgkin's lymphoma (NHL) patients. Pre-chemotherapy viral load may be a risk factor and HBeAg-positive status is associated with increased viral load. The aim of this study was to investigate the long-term treatment outcome of lamivudine in preventing HBV reactivation and its associated morbidity according to HBeAg status. Twenty-four adult HBsAg-positive NHL patients were taken 100mg of lamivudine daily before the initiation of chemotherapy. The median duration of lamivudine therapy was 11.5 months (range: 1-54 months) and the median number of chemotherapy cycles was 6 (range: 1-16 cycles). The steroid containing chemotherapy regimens were used in 18 patients (75%), and the anti-CD20 monoclonal antibody containing chemotherapy regimen was used in 6 patients (25%). Four patients received autologous peripheral blood stem cell transplantation without resultant HBV reactivation. Hepatitis related to HBV reactivation was developed in 1 patient among 14 HBeAg-positive patients and no one among 10 HBeAg-negative. One patient developed HBV reactivation after lamivudine withdrawal, and 4 patients developed the YMDD (tyrosine-methionine-aspartate-aspartate) mutation during lamivudine therapy. There were no statistical differences in HBV reactivation rate during chemotherapy according to the HBeAg status. Our results demonstrate that lamivudine should be considered preemptively before the chemotherapy for all HBsAg-positive NHL patients to prevent HBV reactivation, regardless of pre-chemotherapy HBeAg status. Finally, compared with the chronic hepatitis B patients, similar rate of HBV reactivation after lamivudine withdrawal and development of YMDD mutation was observed in NHL patients.

BACKGROUND: Disturbances in apoptosis through phosphoinositide 3-kinase(PI3K)/Akt pathway is thought to be crucial in cancer cell immortality. Enhanced expression and activation of Akt was investigated in several malignancies but not in acute leukemia. We investigated the expression of Akt and phospho-Akt in acute leukemia cells and clinical characteristics of expression and non-expression group. METHODS: Bone marrow cells from patients who were newly diagnosed as acute leukemia and healthy volunteer were obtained and analyzed by Western blot analysis using monoclonal antibody against Akt, phospho-Akt (Ser473), and phospho-Akt (Thr308). Clinical data were obtained retrospectively. RESULTS: The expression of Akt was demonstrated in 27 of 43 cases (63%) and phospho- Akt(Ser473) was noted in 24 of 27 (54%) Akt-positive cases, respectively. Phospho-Akt (Ser473)-expression group showed significantly higher initial WBC counts compared to negative group (P=0.003). By chromosomal analysis, patients with Akt expression did not show any good prognostic karyotype (P=0.001). CONCLUSION: This result suggests that Akt overexpression and activation is detected in acute leukemia cells and might have a role in molecular pathogenesis of acute leukemia.
Apoptosis ; Blotting, Western ; Bone Marrow Cells ; Healthy Volunteers ; Humans ; Karyotype ; Leukemia* ; Retrospective Studies

Acquired Hemophilia A is a rare and considerably life-threatening coagulopathy, which is caused by the development of autoantibodies against factor VIII (FVIII) in non-hemophilic adults. Acquired FVIII inhibitors can be associated with diverse conditions, such as malignant disorders, medications, autoimmune diseases, postpartum states and others. These autoantibodies inhibit normal coagulation, had results in bleeding complications, which can contribute to mortality in a high percentages of cases. Effective control of the disorder can be achieved by prompt diagnosis and appropriate managements. Generally, the managements of acquired hemophilia A are aimed at treating the acute bleeding and eliminating inhibitors by immunosuppression. Although a range of treatment options exists for patients with acquired hemophilia A, there is no consensus with regard to the optimal therapies for this disorder. Herein, two cases, an 82-year-old man and a 78-year-old man who were successfully treated by steroid or danazol, which is a relatively mild immunosuppressive agent, are reported.
Adult ; Aged ; Aged, 80 and over ; Autoantibodies ; Autoimmune Diseases ; Consensus ; Danazol* ; Diagnosis ; Factor VIII ; Hemophilia A* ; Hemorrhage ; Humans ; Immunosuppression ; Mortality ; Postpartum Period

There have been reports that hyperammonemia and amino acid disturbance can cause loss of consciousness in patients with multiple myelomas and normal liver function. We experienced a case of a 71-years-old female patient with amyloidosis, who had shown disturbance of consciousness. At that time, the serum ammonia level was elevated; serum amino acids disturbance was also noted. In particular, the decrease in branched-chain amino acids and increase in aromatic amino acids results in a low Fisher ratio. The Fisher ratio, the ratio of branched-chain to aromatic amino acids, has been suggested as an important indicator of consciousness disturbance. We report, for the first time in Korea, a case of amyloidosis, with mental disturbance due to serum amino acid disturbance.
Amino Acids ; Amino Acids, Aromatic ; Amino Acids, Branched-Chain ; Ammonia ; Amyloidosis* ; Consciousness ; Female ; Humans ; Hyperammonemia* ; Korea ; Liver ; Multiple Myeloma ; Unconsciousness

BACKGROUND: AC133 antigen is a cell surface antigen which is selectively expressed on hematopoietic stem and progenitor cells. It has been reported that AC133 antigen is expressed on the subsets of CD34+ acute leukemia, and occasionally on CD34- acute leukemia. We investigated the clinical and biological characteristics of AC133 antigen-positive acute leukemia. METHODS: Thirty-six adult acute leukemia patients were analyzed using a cut-off criterion of 20% or more gated leukemic blasts expressing the AC133 antigen for AC133+ leukemia. The biological characteristics focused on apoptosis were examined using multicolor flow cytometry and Western blot analysis. RESULTS: AC133 antigen was expressed in 12 cases (33.3%). Eleven of 21 (52.4%) acute myelogenous leukemia (AML) patients and 1 of 15 (6.7%) acute lymphoblastic leukemia patients were positive for AC133 antigen, and the difference was significant. None of the clinical prognostic markers were significantly different between AC133+ and AC133- AML. Median disease free and overall survival time were not significantly different between AC133+ and AC133- AML. The expression rate of CD34 was significantly higher in AC133+ AML patients compared to those of AC133- AML (P=0.045). Among the apoptosis-related proteins, the Fas expression on the leukemic blasts was higher in the AC133+ AML (P=0.048), but Fas ligand, Bcl-2, caspase-3 expression rates were not significantly different between AC133+ and AC133- AML. The apoptosis rate was significantly lower in the Ara-C treated AC133+ AML (P=0.049), but the apoptosis rates to other apoptosis-inducing agents (doxorubicin, TNF-alpha) were not different between AC133+ and AC133- AML cells. We thought that there were some associations between a trend toward higher caspase-3 expression rates and lower Ara-C induced apoptosis rates in the AC133+ AML. CONCLUSION: There was no significant correlation between AC133 antigen expression and various clinical characteristics of acute leukemia, but the AC133 antigen might provide different biological characteristics including apoptosis from other immature cell surface markers. However, to verify the prognostic usefulness of AC133 antigen and the basis of the biological characteristics of AC133 antigen-positive acute leukemia, further study is needed.
Adult ; Antigens, Surface ; Apoptosis ; Blotting, Western ; Caspase 3 ; Cytarabine ; Fas Ligand Protein ; Flow Cytometry ; Humans ; Leukemia* ; Leukemia, Myeloid, Acute ; Population Characteristics* ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Stem Cells