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Biomedical subjects

Y S Shin

Publications and source records attributed to Y S Shin.

At least 19 recordsLinked to original sources
PubMed2006

Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia.

BACKGROUND: Hypophosphatasia (HP) is an inborn error of bone metabolism characterized by a genetic defect in the gene encoding the tissue-nonspecific alkaline phosphatase (TNSALP). There is a lack of knowledge as to how the variability and clinical severity of the HP phenotype (especially pain and walking impairment) are related to metabolic disturbances or impairments, subsequent to the molecular defect. METHODS: We analyzed the changes in clinical symptoms and the prostaglandin (PG) metabolism in response to treatment with non-steroidal anti-inflammatory drugs (NSAIDs) in six children affected by childhood HP. In addition, by exposing HP fibroblasts to pyridoxal phosphate and/or calcium pyrophosphate in vitro, we analyzed whether the alterations in PG levels are sequelae related to the metabolic defect. RESULTS: Childhood HP patients, who often complain about pain in the lower limbs without evident fractures, have systemic hyperprostaglandinism. Symptomatic anti-inflammatory treatment with NSAIDs significantly improved pain-associated physical impairment. Calcium pyrophosphate, but not pyridoxal phosphate, induced cyclooxygenase-2 (COX-2) gene expression and PG production in HP and normal fibroblasts in vitro. CONCLUSION: Clinical features of childhood HP related to pain in the lower legs may be, at least in part, sequelae related to elevated PG levels, secondary to the primary metabolic defect. Consequently, NSAID treatment does improve the clinical features of childhood HP.

Adolescent↗
PubMed2005

Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.

Glycogenosis type II (Pompe disease) is a lysosomal storage disease caused by deficiency of acid alpha-glucosidase (acid maltase). The disease is autosomal recessive inherited and is clinically and genetically heterogenous. The authors describe a 30-year-old woman affected by late-onset Pompe disease with vascular affection resembling atherosclerotic angiopathy of the elderly. Genetic analysis revealed two novel mutations (Ala237Val and Gly293Arg) in the acid alpha-glucosidase gene in this patient.

Adult↗
PubMed2004

Treatment of vertebral artery dissecting aneurysms presenting with progressive myelopathy.

Two patients with vertebral artery dissecting aneurysm are presented in which the posterior inferior cerebellar artery (PICA) arose from the wall of the aneurysm. The patients presented with progressive myelopathy due to mass effect on the medulla. One patient was treated with proximal occlusion of the vertebral artery using Guglielmi detachable coils (GDCs). The other patient underwent complete excision of the aneurysm, with reimplantation of the PICA into the vertebral artery proximal to the dissecting aneurysm. We obtained good results with improvement of myelopathy in both patients, but the patient who underwent bypass surgery suffered longstanding palsy of the lower cranial nerves. This report emphasizes that complete aneurysm clipping or excision for such patients is the gold standard of treatment, but preservation of PICA flow may require technically sophisticated surgical techniques. However, even if the aneurysm is not completely eliminated, the myelopathy can be dramatically improved with conservative endovascular treatment with proximal occlusion. Therefore, the choices for treatment in such lesions varies with the angiographic findings, degrees of mass effect on the brainstem, and the patient's physical condition.

Adult↗
PubMed2003

Measuring the burden of premature death due to smoking in Korea from 1990 to 1999.

This study estimated the burden of premature death due to smoking in Korea between 1990 and 1999 using the years of life lost (YLL) due to premature death method. To implement this study, age-group-specific YLL due to premature death were calculated by employing the standard expected years of life lost method. YLL due to smoking were calculated based on assumptions and methods developed by the Global Burden of Disease Study Group. The burden of premature death due to smoking was estimated by multiplying the population attributable risk by the YLL of smoking-related diseases. In 1999, the burden of premature death due to smoking was 57.7% in males and 11.4% in females in Korea. The burden of premature death due to smoking increased from 1643 person years per 100,000 in 1990 to 1888 person years in 1999 for males, and increased from 151 person years in 1990 to 225 person years in 1999 for females in Korea. Our results suggest that the method employed in this study, generated in quantified terms, enabled the burden of premature death due to smoking to be obtained comparably with methods used by other international studies in this field, and thus can provide a rational basis for national health policy planning regarding premature death from smoking and the related risk factors in Korea.

Adult↗
PubMed2002

Diagnosis of fructose-1,6-bisphosphatase deficiency using cultured lymphocyte fraction: a secure and noninvasive alternative to liver biopsy.

We report the result of enzymatic and molecular analyses, using cultured lymphocyte fractions (cultivated monocytes), of six Japanese patients (from five families) and one Italian patient with fructose-1,6-bisphosphatase (FBPase) deficiency. Enzymatic analysis demonstrated FBPase deficiency in all seven patients, including the Italian patient whose fructose-1,6-bisphosphatase activity has been reported to be normal in leukocytes but deficient in liver. Molecular analysis of the FBPase gene identified pathogenic mutations in only 8 among the total 12 alleles of six families. We have thus demonstrated the validity of using cultured monocytes as a secure and noninvasive alternative to liver biopsy for accurate diagnosis of FBPase deficiency.

Alleles↗
PubMed2001

[Early childhood cataract in hereditary UDP-galactose-4-epimerase deficiency--a case report].

BACKGROUND: Increased plasma galactitol levels may lead to development of bilateral pediatric cataract. PATIENT: A 3-year-old boy was found to suffer from a bilateral zonular cataract. Extracapsular lensectomy with posterior capsulotomy, transpupillar anterior vitrectomy and posterior chamber lens implantation were performed during a 4-month-interval. RESULTS: The epimerase-activity in red cells of the index patient was found to be significantly decreased (11.2 mumol/h/g Hb; normal range; 19-35). From other family members, such as the brother (16.8), the father (16.0) and the grandfather (15.6), a diminished red cell activity was observed. The mother whose epimerase activity was considerably lower than that of the above mentioned family members (13.3) showed also a zonular bilateral cataract. CONCLUSIONS: Investigation of enzymes and polyols of galactose metabolism as well as consultation of the concerned families are recommended for clarification of cataract development.

Cataract↗
PubMed2001

Thyroxine treatment induces upregulation of renin-angiotensin-aldosterone system due to decreasing effective plasma volume in patients with primary myxoedema.

BACKGROUND: In experimental animals and humans, hypothyroidism is associated with fluid retention and generalized oedema, increased antidiuretic hormone (ADH), decreased atrial natriuretic hormone (ANH), and decreased renin-angiotensin-aldosterone system (RAAS), which subsequently can be corrected by thyroid hormone replacement. The purpose of this study was to determine the effect of thyroxine therapy on RAAS and neurohormones affecting water and electrolyte metabolism and the reason for these changes in patients with primary myxoedema. METHODS: We measured changes in the plasma renin activity (PRA), serum aldosterone (Aldo), ADH, ANH levels, serum and 24 h urinary electrolytes and osmolalities, and cardiac function in 22 female patients with primary myxoedema before and after correction of hypothyroidism. We also evaluated age-, sex-, and BMI-matched 15 healthy control subjects (Cont). RESULTS: It took an average of 4.3 months (range, 3-9 months) to normalize thyroid function. The mean reductions of body weight and estimated plasma volume were 1.8+/-1.0 kg (P=0.002) and 8.5% (P<0.001), respectively. In addition, serum Na+ and osmolality and the haematocrit were significantly elevated after correction of hypothyroidism (P<0.01 and P<0.001, respectively). Increased F(E)Na and C(OSM) (P<0.05) levels in patients with hypothyroidism (Ho) compared with those in Cont did not change after thyroxine therapy (Eu). However, C(H(2)O), U(E)K, F(E)K, and TTKG levels as well as creatinine clearance (Ccr) were markedly increased in Eu compared with Ho and Cont (P<0.01, respectively). Increased plasma ADH concentration and decreased plasma ANH concentration were normalized compared to Cont after thyroxine therapy (P<0.001 and P<0.01, respectively). Low PRA and serum Aldo concentration in Ho were significantly increased in Eu (P<0.001 and P<0.01, respectively). In addition, increased left ventricular mass index and decreased cardiac output in Ho were normalized compared to Cont after thyroxine therapy (P<0.01, respectively) CONCLUSIONS: These findings suggest that the exaggerated upregulation of RAAS after correction of hypothyroidism in patients with primary myxoedema is associated with an increase in Ccr and a decrease in plasma volume resulting from water diuresis, natriuresis, osmotic diuresis and inappropriate changes in plasma ADH and ANH levels. The improved renal function coincided with an amelioration of cardiac function. These changes seem to be an adaptive response for preventing excessive plasma volume and weight loss after thyroxine therapy.

Adult↗
PubMed2001

The monitoring of somatosensory evoked potentials and neurologic complications in aneurysm surgery.

Somatosensory evoked potential (SSEP) changes during cerebral aneurysm surgery and their relationship to postoperative neurologic complications have been studied on many occasions. However, it is still a matter of debate whether SSEP monitoring is really helpful in detecting or preventing neurologic complications. We studied 87 patients undergoing aneurysm surgery of the anterior cerebral circulation and SSEPs were monitored in 60 of these patients. All patients were grade 2 by the subarachnoid hemorrhage (SAH) grading system. Median nerve SSEP was monitored for middle cerebral or internal carotid artery aneurysms and posterior tibial nerve SSEP for anterior cerebral artery aneurysms. A decrease in the cortical amplitude of more than 50%, compared with control, was considered significant and interventions were then taken to reverse the SSEP. The pre- and postoperative neurologic deficits of each patient were evaluated immediately before and after surgery. No significant difference was found in the incidence of postoperative neurologic complications in the SSEP monitored (15% [9/60]) and unmonitored patients (22% [6/27]). In the SSEP monitored patients, the amplitudes of SSEPs decreased significantly in 14 patients and 4 of these showed neurologic complications. However, SSEP amplitudes were not significantly changed in 46 patients, and 5 of these showed neurologic complications. Significant changes in the amplitude of SSEP might represent neuronal injury, but the absence of change in the SSEP cannot guarantee patient safety. Our results suggest that SSEP monitoring may be useful for detecting the danger of neuronal injury, but that it does not reduce the incidence of neurologic complications in aneurysm surgery.

Adult↗
PubMed2001

Clinical significance of anti-endothelial cell antibody in renal transplant recipients.

In order to evaluate the role of anti-endothelial cell antibody (AECA) in acute rejection in renal transplantation, serum AECA IgG titers were measured in 68 healthy controls, 111 chronic hemodialysis (HD) patients and 58 first renal transplant recipients. The AECA titer in hemodialysis patients was higher than in healthy controls (13.9 +/- 5.0 vs. 4.8 +/- 2.3 U/mL, p < 0.01). In transplant recipients, AECA titers were not affected by dialysis mode (HD vs. CAPD vs. non-dialysis; 9.6 +/- 7.6 vs. 7.9 +/- 3.9 vs. 11.9 +/- 3.1 U/mL, p > 0.05). After renal transplantation, AECA titer was decreased significantly (vs. 4.7 +/- 3.6 U/mL. p < 0.01). The serum AECA IgG titers increased significantly in recipients with acute rejection (6.9 +/- 3.1 vs. 13.5 +/- 9.9 U/mL, p < 0.01), but decreased to 5.6 +/- 3.0 U/mL (p < 0.01) after formal rejection therapy. In the recipients with acute rejection (n = 27), the pre-renal transplant AECA titer was higher than in that without acute rejection (14.0 +/- 8.6 vs. 7.7 +/- 3.8 U/mL, p < 0.01). The results of this study lead us to conclude that pre- and post-renal transplant AECA titer might be a useful predictor for acute rejection and useful for monitoring acute rejection in renal transplant recipients.

Adult↗
PubMed2000

The effect of C677T mutation of methylene tetrahydrofolate reductase gene and plasma folate level on hyperhomocysteinemia in patients with meningomyelocele.

To evaluate the relationship between genotypes of methylene tetrahydrofolate reductase (MTHFR), and plasma folate and homocysteine (Hcy) levels in meningomyelocele, 21 Korean patients, 47 of their family members, and 43 healthy controls were recruited. The presence of C677T mutation in the MTHFR gene and plasma concentrations of folate/Hcy were investigated. The genotype frequency of C677T mutation was not higher in study groups (patients and family members). The plasma folate concentration showed no difference either between the study and the control groups or among MTHFR-genotypic groups. The plasma Hcy concentration in homozygotes in the study group was higher than that in the control group, and higher than that in heterozygotes when plasma folate levels were low (P=0.006). Although neither MTHFR genotype nor plasma folate/Hcy level plays a definite part on its own, they seem to have an additive effect on the occurrence of meningomyelocele. Our results support folate supplementation for the prevention of hyperhomocysteinemia and meningomyelocele.

Alleles↗
PubMed2000

High glucose-induced intercellular adhesion molecule-1 (ICAM-1) expression through an osmotic effect in rat mesangial cells is PKC-NF-kappa B-dependent.

AIMS/HYPOTHESIS: Infiltration of mononuclear cells and glomerular enlargement accompanied by glomerular cell proliferation are very early characteristics of the pathophysiology of diabetes. To clarify the mechanism of early diabetic nephropathy, we measured [3H]-thymidine incorporation and cell numbers to show the influence of a high ambient glucose concentration and the osmotic effect on rat mesangial cell proliferation. We also measured the effect of high glucose on the expression of intercellular adhesion molecule-1 and vascular adhesion molecule-1 by flow cytometry and semiquantitative RT-PCR in mesangial cells and the adhesion of leukocytes to mesangial cells. METHODS/RESULTS: Cells exposed to high D-glucose (30 mmol/l) caused an increase in [3H]-thymidine incorporation and cell numbers at 24 and 48 h and normalized at 72 h (p < 0.05), whereas these changes were not found in high mannitol (30 mmol/l), IL-1 beta, or TNF alpha-stimulated mesangial cells. Cells exposed to high-glucose (15, 30, or 60 mmol/l) or osmotic agents (L-glucose, raffinose and mannitol) showed that intercellular adhesion molecule-1 expression began to increase after 24 h, reached its maximum at 24 and 48 h and gradually decreased afterwards. The stimulatory effects of high glucose and high mannitol on mRNA expression were observed as early as 6 h and reached its maximum at 12 h. Up-regulation of ICAM-1 protein and mRNA was also found in IL-1-beta and TNF-alpha-stimulated mesangial cells. Neither vascular adhesion molecule-1 protein nor mRNA expression was, however, affected by high glucose and high mannitol. Notably, the protein kinase C inhibitors calphostin C and staurosporine reduced high glucose- or high mannitol-induced intercellular adhesion molecule-1 mRNA expression and high glucose-induced proliferation. Furthermore, the NF-kappa B inhibitor N-tosyl-L-phenylalanine chloromethyl ketone reduced high glucose- or high mannitol-induced intercellular adhesion molecule-1 mRNA expression and high glucose-induced proliferation. Results showed that high glucose (15, 30 mmol/l) or high concentrations of osmotic agents remarkably increased the number of adherent leukocytes to mesangial cells (p < 0.01) compared with control cells (5 mmol/l D-glucose). Functional blocking of intercellular adhesion molecule-1 on mesangial cells with rat intercellular adhesion molecule-1 monoclonal antibody, calphostin C, staurosporine, or N-tosyl-L-phenylalanine chloromethyl ketone significantly inhibited high glucose- or high mannitol-induced increase in leukocyte adhesion (p << 0.05). CONCLUSION/INTERPRETATION: These results suggest that high glucose can upregulate intercellular adhesion molecule-1 protein and mRNA expression but not vascular adhesion molecule-1 expression in mesangial cells and promote leukocyte adhesion through up-regulation of intercellular adhesion molecule-1 through osmotic effect, possibly depending on the protein kinase C nuclear factor-kappa B (PKC-NF-kappa B) pathway. High glucose itself can also promote mesangial cell proliferation through the PKC-NF-kappa B pathways. We conclude that hyperglycaemia in itself seems to be an important factor in the development of early diabetic nephropathy.

Animals↗
PubMed2000

Characteristics of L-ornithine: 2-oxoacid aminotransferase and potential prenatal diagnosis of gyrate atrophy of the choroid and retina by first trimester chorionic villus sampling.

A deficiency of the mitochondrial matrix enzyme L-ornithine: 2-oxoacid aminotransferase causes gyrate atrophy of the choroid and retina with hyperornithinemia (MIM 258870), a blinding degenerative disease, which is inherited as an autosomal recessive trait. We have developed a sensitive microradioisotopic method for enzyme assay by using 2-oxo-[5-14C] glutarate as the substrate and performing the separation of the product, [5-14C] glutamate from the substrate on a cation-exchange column. The enzyme activity was determined in human and rat tissues and in cultured cells. The enzyme activity in fibroblasts from a patient was deficient and that of the parents ranged between 25 and 60% of the control values. In addition we have found the enzyme expressed in native and cultured chorionic villi indicating a potential detection of the disease during the first trimester of pregnancy.

Animals↗
PubMed2000

Emergency surgical recanalisation of A1 segment occluded by a Guglielmi detachable coil.

We describe a case of A1 segment occlusion caused by a tangled Guglielmi detachable coil (GDC) during an endovascular treatment for a ruptured anterior communicating aneurysm. Immediate surgical recanalisation of the occluded artery and clipping of the aneurysm rescued the patient. This case demonstrates that an emergency surgical team, as well as an operating room, should be available during any complicated intra-aneurysmal procedure, so that timely surgical intervention could be carried out without delay.

Cerebral Angiography↗
PubMed2000

Prednisolone-induced muscle dysfunction is caused more by atrophy than by altered acetylcholine receptor expression.

UNLABELLED: Large doses of glucocorticoids can alter muscle physiology and susceptibility to neuromuscular blocking drugs by mechanisms not clearly understood. We investigated the effects of moderate and large doses of prednisolone on muscle function and pharmacology, and their relationship to changes in muscle size and acetylcholine receptor (AChR) expression. With institutional approval, 35 Sprague-Dawley rats were randomly allocated to receive daily subcutaneous doses of 10 mg/kg prednisolone (P10 group), 100 mg/kg prednisolone (P100 group), or an equal volume of saline (S group) for 7 days. A fourth group of rats was pair fed (food restricted) with the P100 rats for 7 days (FR group). On Day 8, the nerve-evoked peak twitch tensions, tetanic tensions, and fatigability, and the dose-response curves of d-tubocurarine in the tibialis cranialis muscle were measured in vivo and related to muscle mass or expression of AChRs. Rate of body weight gain was depressed in the P100, FR, and P10 groups compared with the S group. Tibialis muscle mass was smaller in the P100 group than in the P10 or S groups. The evoked peak twitch and tetanic tensions were less in the P100 group than in the P10 or S groups, however, tension per milligram of muscle mass was greater in the P100 group than in the S group. The 50% effective dose of d-tubocurarine (microg/kg) in the tibialis muscle was smaller in the P10 (33.6 +/- 5.4) than in the S (61.9 +/- 5.0) or the P100 (71.3 +/- 9.6) groups. AChR expression was less in the P10 group than in the S group. The evoked tensions correlated with muscle mass (r(2) = 0.32, P < 0.001), however, not with expression of AChR. The 50% effective dose of d-tubocurarine did not correlate with muscle mass or AChR expression. Our results suggest that the neuromuscular dysfunction after prednisolone is dose-dependent, and derives primarily from muscle atrophy and derives less so from changes in AChR expression. IMPLICATIONS: The mechanisms by which chronic glucocorticoid therapy alters neuromuscular physiology and pharmacology are unclear. We suggest that the observed effects are dose-dependent and derive primarily from muscle atrophy and derive less from changes in acetylcholine receptor expression.

Animals↗