Maple syrup urine disease(MSUD) is an autosomal recessive disorder involving the metabolism of the branched-chain amino acids(BCAA) such as leucine, isoleucine and valine. The disorder is due to a defect in branched-chain alpha-ketoacid dehydrogenase(BCKAD) and the classic form causes rapid progressive and overwhelming illness beginning in the first weeks of life, present with poor feeding, lethargy, change in muscle tone, acidosis, seizures and coma. The goal of therapy in acutely ill patients with MSUD is an immediate reduction in the plasma levels of the BCAAs and branched-chain ketoacids. In this report, we describe an infant with MSUD who was treated by dietary therapy alone. During the therapy, acrodermatitis enteropathica-like syndrome developed with low plasma isoleucine concentration while she was receiving a formula deficient in BCAAs.
Acer* ; Acidosis ; Acrodermatitis* ; Amino Acids, Branched-Chain ; Coma ; Diet Therapy* ; Diet* ; Humans ; Infant ; Isoleucine ; Lethargy ; Leucine ; Maple Syrup Urine Disease* ; Metabolism ; Plasma ; Seizures ; Valine

No abstract available.
Craniocerebral Trauma* ; Head* ; Humans ; Tomography, Emission-Computed, Single-Photon*

Mineralocorticoids influences on acid-base homeostasis by the regulation of urine acidification. But its mechanism of acion is not well known in human. This study compared the acid-base status and the indices of urine acidification before and after mineralocorticoid administration in human, and analyzed the effect of mineralocorticoids on human acid-base homeostasis. We administered 9a-fludrocortisone in 6 chronic renal failure patients and 6 normal controls 0.5mg daily for 7 days. The results were as following: 1) After administration of 9a-fludrocortisone in patients group, serum aldosterone level changed from 120.2+/-71.0pg/mL to 44.8+/-32.2pg/mL(mean+/-SD, p< 0.05). Serum HCO- level was not changed. Urine ammonium excretion was incresed from 24.6+/-12.3 mmol/day to 43.7+/-19.0 (p<0.05), but there were no change in urine pH and urine anion gap, Serum potassium level decreased from 5.5+/-0.7mBq/L to 4.1+/-0.5mEq/L (p<0.05), and TTKG increased from 3.9 to 8.9(p<0.05). 2) After administration of 9a-fludrocortisone in control group, serum aldosterone level changed from 99.7+/-44.5pg/mL to 25.1+/-3 mL(p<0.05). Serum HCO- level was not changed. Urine ammonium excretion was incresed from 44.3+/-21.6mmoVday to 76.3+/-19.6(p<0.05), but there were no change in urine pH and urine anion gap. Serum potassium level decreased from 4.8+/-0.5mEq/L to 3.9+/-0.2mHq/L(p< 0.05), but there was no change in TTKG. 3) No patient or control showed any discomfort after 9-fludrocortisone administration, and there was no elevation in diastolic blood pressure, increase in body weight, electrolyte abnormality. In summary, after 9alpha-fludrocortisane administration, urinary ammonium excretion increased in both patients and control group, and this phenomenon occured with correction of hyperkalemia without urine pH change. This result implies urinary ammonium excretion increase by mineralocorticoid. In human increase in renal distal acidification by mineralocorticoid is due to increase in renal ammoniagenesis rather than stimulation on proton excretion.
Acid-Base Equilibrium ; Aldosterone ; Ammonium Compounds* ; Blood Pressure ; Body Weight ; Homeostasis ; Humans ; Hydrogen-Ion Concentration ; Hyperkalemia ; Kidney Failure, Chronic ; Mineralocorticoids ; Potassium* ; Protons

Angiosarcoma is a very rare form of neoplasm derived from soft tissue. It is reported even more rarely in hepatobiliary system. Because of its nonspecific symptoms and difficulty in diagnosis, angiosarcoma is often presented in a progressed state and often results in poor prognosis. To our best knowledge, there has been no report regarding angiosarcoma in common bile duct worldwide. We report a case of 77-year-old-woman presented with right upper abdominal pain diagnosed as angiosarcoma in common bile duct.
Abdominal Pain ; Common Bile Duct* ; Diagnosis ; Hemangiosarcoma* ; Prognosis

BACKGROUND: The antidiuretic action of oxytocin in human has been controversial. To investigate whether oxytocin directly acts on water balance in human, we evaluated the parameters of urinary concentration in response to administration of oxytocin in ten healthy male volunteers. METHODS: Oxytocin was infused intravenously at a rate of 20 mU/hour for 2.5 hours and urine was collected during the last 2 hours of oxytocin infusion. Changes in urine volume, urine osmolality, excretions of urine electrolytes and free water clearance after the administrartion of oxytocin were compared with the baseline data. RESULTS: The changes in the levels of serum electrolytes and osmolality after the administration of oxytocin were not significant compared with the baseline data. The volume of 2 hours' urine were 446+/-75 mL and 289+/-53 mL in the basal state and after the administration of oxytocin, respectively. The urine osmolality was increased significantly by the infusion of oxytocin(427+/-63 mOsm/kg) compared with that in the basal state(223+/-25 mOsm/kg)(p < 0.05). The free water clearance was 110+/-51 mL/2 hours in the basal state and decreased significantly to -57+/-51 mL/2 hours(p < 0.05). CONCLUSION: We conclude that administration of oxytocin to normal men enhances urinary concentration, evidenced by increased urinary osmolality and decreased free water clearance. In human, oxytocin may play an important role in the regulation of renal water excretion as an antidiuretic hormone.
Electrolytes ; Humans ; Male ; Osmolar Concentration ; Oxytocin* ; Volunteers ; Water

Recently the results of alpha-interferon treatement in hepatitis B virus associated glomerulonephritis showed a reduction of proteinuria and a loss of HBeAg in some treated patients. But, alpha- interferon therapy was mainly tried in membranous nephropathy of children. So, we treated 13 adults patients with recombinant alpha-interferon who were diagnosed as HBV associated membranous nephropathy(2) and membranoproliferative GN(11) at Seoul National unversity hospital. All of them had nephrotic range proteinuria and HBe antigenemia for more than 6 months, normal serum creatinine level and had no other systemic disease. Three million units of recombinant alpha-interferon was given six times a week for 16 weeks intramuscularly and the therapeutic effect was analyzed during treatment periods, especially in terms of changes in urine protein excretion and serum HBeAg. And we compared them with 14 control patients who had received conservative therapy only. As a results, at the end of interferon therapy, serum HBeAg disappeared in 4 of 13 treated patients, and serum HBsAg disappeared in 1 of 4. At the end of therapy, proteinuria diminished to non-nephrotuc range in 6 of 13 treated patients and decrement of proteinuria was accompanied with disappearance of serum HBeAg in 3 patients. And proteinuria diminished in 5 of 11 MPGN patients and serum HBeAg disappread in 3 of them. But in 14 controls there were no significant changes in 24 hour urine protein excretion and serum HBeAg. During interferon therapy, mild febrile reaction was developed in 8 patients, anemia in 3 patients, and cytopenia in 7 patients, but most of these adverse effects resolved spontaneously after discontinuation of interferon therapy. During follow up periods over 1 years, proteinuria relapsed to nephrotic range in 3 of 6 patients and serum HBeAg reappreared in 2 of them. In conclusion, the alpha-interferon at the dose induced a clearance of HBeAg and the decrement of the proteinuria in some adult MN and MPGN patients. And these results suggested the possibilities that HBeAg might be involved in the pathogenesis of HBV associated MPGN and alpha-interferon might be effective in some HBV associated MPGN.
Adult ; Anemia ; Child ; Creatinine ; Follow-Up Studies ; Glomerulonephritis ; Glomerulonephritis, Membranoproliferative ; Glomerulonephritis, Membranous ; Hepatitis B e Antigens ; Hepatitis B Surface Antigens ; Hepatitis B virus ; Humans ; Interferon-alpha ; Interferons ; Nephrotic Syndrome ; Proteinuria ; Seoul

In 2016, the clinical chemistry proficiency-testing program consisted of 21 programs, including the general chemistry program of the Korean Association of External Quality Assessment Service. The general chemistry program consisted of 28 test items and was conducted using two level control materials four times per year. Based on the information and results for each test item entered by each institution, statistical analysis data according to test method, instrument, and reagent were reported. The report comprised a general statistics report showing the characteristics of all participating institutions and a separate institutional report showing the evaluation data of individual institutions. The statistics included the number of participating institutions and the mean, standard deviation, coefficient of variation, median, minimum, and maximum values for each group. Each report was composed of a table, histogram, and Levey-Jennings chart showing the statistics for each test item. The results of each institution and the statistics for each classification are presented in the table showing the statistics, and a standard deviation index is presented together with a method classification and a classification by reagent companies. A total of 14 items, including albumin, were evaluated by more than 1,000 institutions. There was no significant difference in the distribution of the measurement methods compared with those used in the previous year. The coefficient of variation showed a tendency to increase as the concentration of the level control material decreased and as the number of participating institutions decreased for each test item. Most of them showed a coefficient of variation within 10%. These statistical data will be useful when interpreting the survey results from the institutions and selecting a test method.
Chemistry ; Chemistry, Clinical* ; Classification ; Korea* ; Methods

BACKGROUND: Dipeptidyl peptidase-4 (DPP-4) inhibitors are widely used in the treatment of patients with type 2 diabetes and have proven protective effects on diabetic kidney disease (DKD). Whether DPP-4 inhibitors have renoprotective effects on insulin-deficient type 1 diabetes has not been comprehensively examined. The aim of this study was to determine whether gemigliptin, a new DPP-4 inhibitor, has renoprotective effects in streptozotocin (STZ)-induced type 1 diabetic mice. METHODS: Diabetes was induced by intraperitoneal administration of a single dose of STZ. Mice with diabetes were treated without or with gemigliptin (300 mg/kg) for 8 weeks. Morphological changes of the glomerular basement membrane (GBM) were observed by electron microscopy and periodic-acid Schiff staining. In addition, we measured blood glucose and urinary albumin excretion and evaluated fibrotic markers using immunohistochemical staining, quantitative reverse transcription polymerase chain reaction analysis, and Western blot analysis. RESULTS: Gemigliptin did not reduce the blood glucose levels of STZ-treated mice. In gemigliptin-treated mice with STZ, a significant reduction in urinary albumin excretion and GBM thickness was observed. Immunohistological examination revealed that gemigliptin attenuated renal fibrosis induced by STZ and decreased extracellular matrix protein levels, including those of type I collagen and fibronectin, and Smad3 phosphorylation. In cultured rat renal cells, gemigliptin inhibited transforming growth factor β-stimulated type I collagen and fibronectin mRNA and protein levels via down-regulation of Smad3 phosphorylation. CONCLUSION: Our data demonstrate that gemigliptin has renoprotective effects on DKD, regardless of its glucose-lowering effect, suggesting that it could be used to prevent DKD, including in patients with type 1 diabetes.
Animals ; Blood Glucose ; Blotting, Western ; Collagen Type I ; Diabetes Mellitus, Type 1 ; Diabetic Nephropathies ; Down-Regulation ; Extracellular Matrix ; Fibronectins ; Fibrosis ; Glomerular Basement Membrane ; Humans ; Mice* ; Microscopy, Electron ; Phosphorylation ; Polymerase Chain Reaction ; Rats ; Reverse Transcription ; RNA, Messenger ; Streptozocin ; Transforming Growth Factors

Clinicians are faced with many difficulties when planning prosthodontic restorations with implants in a complete edentulous patient. When planning fixed implant prosthetics, it is often necessary to have additional surgery due to highly reduced alveolar bone, as well as high treatment costs and long-term treatment durations can be required. In addition, lack of interocclusal space can be a problem when planning implant supported overdentures. In this study, we planned to place a small number of implants on the anterior maxilla and used them as the abutments for distal-extension removable partial dentures on the posterior side in a maxillary fully edentulous patient. This would reduce the possibility of additional invasive operations such as alveolar bone graft, shorten the treatment time, and be relatively easy for elderly patients to burden. In this case, the patient was provided with a distal-extension removable partial denture and anterior implant fixed prostheses, which was similar to the previous one, and showed good adaptation, and chewing efficiency and esthetics was recovered.
Aged ; Denture, Overlay ; Denture, Partial, Removable* ; Esthetics ; Health Care Costs ; Humans ; Mastication ; Maxilla ; Prostheses and Implants* ; Transplants

BACKGROUND: Renal tubulointerstitial fibrosis is a common feature of the final stage of nearly all cause types of chronic kidney disease. Although classic peroxisome proliferator-activated receptor γ (PPARγ) agonists have a protective effect on diabetic nephropathy, much less is known about their direct effects in renal fibrosis. This study aimed to investigate possible beneficial effects of lobeglitazone, a novel PPARγ agonist, on renal fibrosis in mice. METHODS: We examined the effects of lobeglitazone on renal tubulointerstitial fibrosis in unilateral ureteral obstruction (UUO) induced renal fibrosis mice. We further defined the role of lobeglitazone on transforming growth factor (TGF)-signaling pathways in renal tubulointerstitial fibrosis through in vivo and in vitro study. RESULTS: Through hematoxylin/eosin and sirius red staining, we observed that lobeglitazone effectively attenuates UUO-induced renal atrophy and fibrosis. Immunohistochemical analysis in conjunction with quantitative reverse transcription polymerase chain reaction and Western blot analysis revealed that lobeglitazone treatment inhibited UUO-induced upregulation of renal Smad-3 phosphorylation, α-smooth muscle actin, plasminogen activator inhibitor 1, and type 1 collagen. In vitro experiments with rat mesangial cells and NRK-49F renal fibroblast cells suggested that the effects of lobeglitazone on UUO-induced renal fibrosis are mediated by inhibition of the TGF-β/Smad signaling pathway. CONCLUSION: The present study demonstrates that lobeglitazone has a protective effect on UUO-induced renal fibrosis, suggesting that its clinical applications could extend to the treatment of non-diabetic origin renal disease.
Actins ; Animals ; Atrophy ; Blotting, Western ; Collagen Type I ; Diabetic Nephropathies ; Fibroblasts ; Fibrosis* ; In Vitro Techniques ; Mesangial Cells ; Mice* ; Peroxisomes* ; Phosphorylation ; Plasminogen Activator Inhibitor 1 ; Polymerase Chain Reaction ; Rats ; Renal Insufficiency, Chronic ; Reverse Transcription ; Transforming Growth Factor beta ; Transforming Growth Factors ; Up-Regulation ; Ureter* ; Ureteral Obstruction*