No abstract available.
Myxoma*

Acute intermittent porphyria (AIP) is a rare disorder characterized biochemically by the increased excretion of porphyrins and porphyrin precursors, including delta-aminolevulinic acid (ALA) and porphobilinogen (PBG). AIP has variable clinical manifestations, such as acute abdominal pain, vomiting, nausea, constipation, peripheral neuropathy, seizures, tachycardia, and hypertension. A 16-year-old girl presented with recurrent abdominal pain, vomiting, hypertension, seizures, hypercholesterolemia, and red urine. AIP was confirmed by clinical features and increased 24-hour urine ALA and PBG. AIP should be considered in the differential diagnosis of patients who have abdominal pain, hypertension, and seizures when the results of all other tests are normal.
Abdominal Pain ; Adolescent ; Aminolevulinic Acid ; Constipation ; Diagnosis, Differential ; Humans ; Hypercholesterolemia ; Hypertension ; Nausea ; Peripheral Nervous System Diseases ; Porphobilinogen ; Porphyria, Acute Intermittent ; Porphyrins ; Seizures ; Tachycardia ; Vomiting

No abstract available.
Colitis, Ulcerative* ; Ulcer*

Phospholipase C (PLC) plays a role in ligand-mediated signal transduction for cellular activity such as proliferation and differentiation. A recent observation that PLC- gamma1 is highly expressed in some kinds of human cancer tissue supports the view that PLC-gamma1 may be involved in proliferation and carcinogenesis. PLC-gamma2 is known to be involved in B cell differentiation and maturation. However, there have been few studies about the expressions of PLC-gamma1 and gamma2 in human lymphoid malignancy. In the present study, we examined the contents of PLC-gamma1 and gamma2 in 10 cases of B cell, 10 cases of T cell non-Hodgkin's lymphoma and 5 cases of Hodgkin's lymphoma to find out whether these enzymes play any role in the carcinogenesis by immunohistochemistry and immunoprecipitation. Immunoprecipitation analysis revealed that in contrast to increased expression of PLC-gamma2 only in B cell lymphoma, a considerably higher level of PLC-gamma1 was detected in both B and T cell lymphoma. Immunohistochemical finding confirmed this observation. PLC-gamma1 and PLC-gamma2 were expressed in the cytoplasm of most tumor cells. PLC-gamma2 was also expressed in mature B cells, while PLC-gamma1 was not expressed in reactive non-tumor cells. These results suggest that PLC-gamma1 mediated signal transduction implicates a significant role in the carcinogenesis of all types of lymphoid tissue, and PLC-gamma2 may play a role in the carcinogenesis of B cell lymphoma as well as B cell differentiation.
B-Lymphocytes ; Carcinogenesis ; Cell Differentiation ; Cytoplasm ; Hodgkin Disease* ; Humans ; Immunohistochemistry ; Immunoprecipitation ; Lymphoid Tissue ; Lymphoma, B-Cell ; Lymphoma, Non-Hodgkin ; Lymphoma, T-Cell ; Phospholipases* ; Signal Transduction ; Type C Phospholipases

PURPOSE: Vitamin D deficiency is common in Crohn disease (CD). The aim of the study was to examine the prevalence of vitamin D deficiency and evaluate the association between vitamin D status and growth outcome in Korean pediatric CD patients. METHODS: In this retrospective study, 17 children younger than 18 years old diagnosed with CD were enrolled and their serum 25-hydroxy vitamin D (25[OH]D) was checked between 2011 and 2015. We categorized the patients into two groups, Group 1 and Group 2. Group 1 included patients with serum 25(OH)D levels below 10 ng/mL, and Group 2 was for patients with a 25(OH)D serum levels between 10 ng/mL and 30 ng/mL. The z-scores for height (Htz), weight (Wtz), and body mass index (BMIz) were measured at baseline, 6 months, and 12 months. RESULTS: The mean serum 25(OH)D levels of the total 65 CD patients and 17 enrolled patients were 15.64±6.9 ng/mL and 13.1±5.1 ng/mL, respectively. There was no correlation at the beginning of the study between vitamin D level and growth parameters (Htz, Wtz, BMIz) or other variables including laboratory data and Pediatric Crohn Disease Activity Index. The Htz, Wtz, and BMIz in Group 1 showed no significant improvement at 6 months and 12 months follow-up. In Group 2, Wtz and BMIz showed significant improvements sustained until 12 months of follow-up. Htz showed no significant improvement at 6 months but there was significant improvement at 12 months. CONCLUSION: It seems that baseline vitamin D status affects growth outcome in pediatric CD.
Body Mass Index ; Child ; Crohn Disease* ; Follow-Up Studies ; Humans ; Prevalence ; Retrospective Studies ; Vitamin D Deficiency ; Vitamin D* ; Vitamins*

Envelope glycoprotein 1 (G1) and glycoprotein 2 (G2) of Hantaan (HTN) virus are believed to be major viral antigens that can induce neutralizing immunity against HTN virus infection. The purpose of this study is to clone and express G1 gene in an E. coli expression system. The truncated G1 gene (amino acid residues 35 to 123) of the HTN virus strain 76-118 was amplified by polymerase chain reaction (PCR). The 0.28 kb PCR product was cloned into pCR2.1 vector and named as pCGS1. The truncated G1 gene was excised from the pCGS1 and subcloned into the BamHI and SalI sites of pGEX-4T-2 and named pGGS1. The nucleotide sequence of the 0.28 kb truncated G1 gene was determined. It is revealed four non-silent nucleotide substitutions between the published sequence of strain HTN virus strain 76-118 and our stock of HTN virus strain 76-118 (passaged several times in our laboratory). The first G1 mutation was found to constitute an A to G nucleotide substitution, giving raise to an asparagine to serine mutation at residue 64. The second G1 mutation was found to constitute an A to C nucleotide substitution, giving raise to an lysine to threonine mutation at residue 112. The third G1 mutation was found to constitute an A to C nucleotide substitution, giving raise to an lysine to threonine mutation at residue 112. The fourth G1 mutation was found to constitute an G to A nucleotide substitution, giving raise to an glutamic acid to lysine mutation at residue 117. The truncated G1 gene was expressed as a 37 kDa protein fused to glutathione-S-transferase (GST). The GST fusion protein was purified by Glutathione Sepharose 4B affinity chromatography and reacted with the sera from patients of hemorrhage fever with renal syndrome (HFRS). One of 12 serum samples from HFRS patients was reactive with the 37 kDa fusion protein strongly. Three sera reacted moderately with the fusion protein. Six sera reacted only weakly with the protein, while remaing two were non-reactive. Control sera from patients with scrub typhus leptospirosis, or negative HFRS did not react with the recombinant fusion protein.
Antigens, Viral ; Asparagine ; Base Sequence ; Blotting, Western ; Chromatography, Affinity ; Clone Cells ; Fever ; Glutamic Acid ; Glutathione ; Glycoproteins* ; Hantaan virus* ; Hemorrhage ; Hemorrhagic Fever with Renal Syndrome ; Humans ; Leptospirosis ; Lysine ; Polymerase Chain Reaction ; Scrub Typhus ; Sepharose ; Serine ; Threonine

Satoyoshi syndrome(generalized Komuragaeri disease) is a rare disorder of unknown cause, characterized by progressive, painful, intermittent muscle spasms and alopecia. Endocrinopathy with amenorrhea, secondary skeletal abnormalities, and diarrhea or unusual malabsorption are frequently seen. It seems that autoimmunity may play a role in its pathogenesis. We report a 13-year-old girl with characteristic manifestations of the syndrome. She was treated with intravenous gammaglobulin and Prednisolone. Painful muscle cramps were gradually improved, but the scalp condition did not change. Satoyoshi syndrome should be considered in children with unexplained muscle spasms and alopecia.
Adolescent ; Alopecia* ; Amenorrhea ; Autoimmunity ; Child ; Diarrhea ; Female ; Humans ; Muscle Cramp ; Prednisolone ; Scalp ; Spasm*

PURPOSE: Apurinic/apyrimidinic endonuclease 1/redox factor-1 (APE1/Ref-1) is a multifunctional protein involved in DNA repair and redox modulation. Recently, serum and urinary APE1/Ref-1 levels were reported to be increased in patients with bladder cancer. Genetic variations of APE/Ref-1 are associated with the risk of cancer. However, the effect of APE1/Ref-1 variants on its secretory activity is yet unknown. METHODS: APE1/Ref-1 variants were evaluated by DNA sequencing analysis of reverse transcription polymerase chain reaction products in coding DNA sequences (CDS) of APE1/Ref-1 in bladder tissue samples from patients with bladder cancer (n=10). Secretory activity of APE1/Ref-1 variants was evaluated with immunoblot and enzyme-linked immunosorbent assay of the culture medium supernatants. RESULTS: Four different substitution mutants (D148E, I64V/D148E, W67R/D148E, and E86G/D148E) of APE1/Ref-1 were identified in bladder cancer specimens. However, deletion mutants of APE1/Ref-1 CDS were not found. The secretory activity of the APE1/Ref-1 variants (D148E, I64V/D148E, and E86G/D148E) was increased compared to that of wild type APE1/Ref-1. Furthermore, the secretory activity in basal or hyperacetylated conditions was much higher than that in APE1/Ref-1 D148E-transfected HEK293 cells. CONCLUSIONS: Taken together, our data suggest that the increased secretory activity of D148E might contribute to increased serum levels of APE1/Ref-1 in patients with bladder cancer.
Base Sequence ; Clinical Coding ; DNA Repair ; Enzyme-Linked Immunosorbent Assay ; Genetic Variation ; HEK293 Cells ; Humans* ; Oxidation-Reduction ; Point Mutation ; Polymerase Chain Reaction ; Reverse Transcription ; Sequence Analysis, DNA ; Urinary Bladder Neoplasms* ; Urinary Bladder*

Phlebectasia is an abnormal dilatation of an isolated vein and a rare venous anomaly and is usually asymptomatic. Clinically internal jugular phlebectasia is a self limited benign condition and usually no treatment is required after initial diagnosis. So suspection of this disease and appropriate diagnostic approaches are essential to avoid unnecessary surgical intervention. We present three cases of internal jugular phlebectasia of which diagnosis was made by neck sonography and CT.
Diagnosis ; Dilatation ; Neck ; Veins

PURPOSE: Liver function test abnormalities have been reported frequently in patients receiving total parenteral nutrition (TPN). In adults, it is known that liver complications decrease with the use of cyclic parenteral nutrition (CPN), especially if the shift to cycling was not too late. However, there are few studies about the effects of cycling on liver injury in children beyond the neonatal period. The aim of this study is to evaluate the effect of the early use of CPN on total parenteral nutrition induced hepatic dysfunction. METHODS: Twelve sets of CPN in 11 children (2 months to 17 years) were included in this study. Data on underlying diseases, age, length of time on TPN, macronutrient intake, complications, and biochemical parameters were collected from clinical records. All children had received CPN in the early period of persistent transaminase elevation or cholestasis complicated by previous continuous PN. The duration of infusion off-time in CPN was 2 hours in patients less than 3 months of age and 4 hours in the older children. RESULTS: All 12 cases showed elevated aminotransferase and 5 of them also showed cholestasis. Serum total bilirubin concentration was normalized in all 5 cases with median periods of 8 days (p<0.05) after initiation of CPN. ALT either decreased significantly or was normalized in all cases with median periods of 30 days (p<0.05) on CPN. The CPN was well tolerated without significant complication except for one case of hyperglycemia. CONCLUSION: The early use of cyclic parenteral nutrition had a beneficial effect in improving hepatic dysfunction complicated by TPN in children.
Adult ; Bilirubin ; Child ; Cholestasis ; Humans ; Hyperglycemia ; Liver ; Liver Function Tests ; Parenteral Nutrition* ; Parenteral Nutrition, Total*