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Junji Takaya

Publications and source records attributed to Junji Takaya.

14 recordsLinked to original sources
PubMed2007

Usefulness of diffusion-weighted MRI in human herpesvirus-6 encephalitis.

UNLABELLED: We report a patient with human herpesvirus-6 (HHV-6) encephalitis diagnosed by diffusion-weighted magnetic resonance imaging (DW-MRI). A previously healthy 10-month-old girl developed acute encephalopathy. HHV-6 DNA was detected in her cerebrospinal fluid during the acute phase of the disease by polymerase chain reaction. The patient demonstrated cortical diffusion abnormalities in affected brain parenchyma, partially as the initial or most sensitive sign of encephalitis that could be detected not by conventional MRI but by DW-MRI. Serial imaging showed that the diffusion abnormality DW-MRI returned to normal after 45 days. CONCLUSION: DW-MRI may be a valuable tool for early detection and diagnosis of HHV-6 encephalitis and is more sensitive than conventional MRI to detect a subtle edematous change in the brain.

Diagnostic Errors↗
PubMed2006

Novel diagnostic approach to citrin deficiency: analysis of citrin protein in lymphocytes.

Citrin deficiency induces two clinical features; namely neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset type II citrullinemia. Hypercitrullinemia is the most characteristic feature, whereas there are non-citrullinemic individuals. Diagnosis of citrin deficiency is performed by genetic analysis, although the 12 known mutations in the alleles are not detected in about 15% of cases. Thus, we aimed to examine citrin protein in lymphocytes isolated from peripheral blood as an alternative diagnostic method. We examined 38 children having an episode of cholestatic liver dysfunction, 8 heterozygotes, and 11 healthy individuals. All subjects were evaluated for citrin protein by Western blotting and for the 12 known mutations by gene analysis. Citrin protein was detected in 15 of 38 children with cholestatic liver dysfunction. Fourteen of them were negative for 12 known mutations in both alleles, whereas one patient was found to have a known mutation in one allele. Citrin protein was absent in 23 of the 38 patients. Among these 23, gene analysis diagnosed citrin deficiency in 19, whereas 2 patients were later revealed to be NICCD with novel mutations. In the remaining 2 patients, who exhibit the clinical features of NICCD, a known mutation was detected in one allele but no mutation was identified in another allele. Citrin protein was also detected in the 8 heterozygotes and 11 healthy individuals. We disclosed that citrin was deficient in lymphocytes among patients with citrin deficiency. Analysis of citrin is useful to diagnose citrin deficiency even in patients without known mutations or hypercitrullinemia.

Blood Preservation↗
PubMed2006

Usefulness of magnetic resonance cholangiopancreatography in biliary structures in infants: a four-case report.

In this paper, we report the usefulness of magnetic resonance cholangiopancreatography (MRCP) in excluding biliary atresia (BA) as the cause of neonatal cholestasis. MRCP with a 1.5-T magnetic resonance (MR) imaging unit was performed on four jaundiced neonates and infants aged from 38 days to 106 days. The diagnosis of BA (n=2) was confirmed with surgery, liver biopsy and surgical cholangiography. Diagnosis of neonatal hepatitis (NH, n=2) was confirmed with clinical follow-up until jaundice resolved, while one of them was diagnosed with surgical cholangiography. In all discoloured acholic stools, increased direct bilirubin (4.4-11.3 mg/dl) with positive lipoprotein X prompted technetium 99mTc disofenin scanning, which showed no excretion. Computed tomography (CT) showed a gallbladder in one with hepatitis but no intrahepatic bile duct in two with BA. The Kasai operation was performed in two patients with BA. In two patients with BA, neither the common bile duct nor the common hepatic ducts were visible at MRCP. In two patients with NH, MRCP clearly depicted both the common hepatic and the common bile ducts. MRCP was accurate in excluding BA as the cause of neonatal cholestasis, while 99mTc disofenin cholescintigraphic findings were false-positive in two patients with non-obstructive cholestasis. We conclude that MRCP can be used to depict the major biliary structures of neonates and small infants and to exclude BA as the cause of neonatal cholestasis by allowing visualisation of the biliary tract.

Biliary Atresia↗
PubMed2005

Variant clinical courses of 2 patients with neonatal intrahepatic cholestasis who have a novel mutation of SLC25A13.

Deficiency of citrin due to mutations of the SLC25A13 gene causes not only adult-onset type II citrullinemia, but also neonatal intrahepatic cholestasis. Neonatal intrahepatic cholestasis is a self-limiting condition and spontaneously disappears by 12 months of age without special treatment. The natural history of patients with SLC25A13 mutations is not clear. Two patients with infantile hepatic dysfunction were found to have a novel mutation of the SLC25A13 gene. DNA analyses of SLC25A13 disclosed that the first patient was a compound heterozygote for the Ex16+74_IVS17-32del516 (del516-Ex16/IVS17) and IVS11+1G-->A mutations and the second one a homozygote for the del516-Ex16/IVS17 mutation. It is predicted that the 516-base pair deletion mutation leads to a frameshift from codons 556 to 564, a premature termination at codon 565, and a truncated form of the citrin protein (normal, 675 amino acids). The first patient had disseminated intravascular coagulation associated with hepatic dysfunction in the neonatal period. The other patient had persistent cholestatic jaundice and underwent an operation to rule out bile duct atresia. Without specific treatment, both patients had a favorable clinical course. In conclusion, citrin deficiency resulting from the mutation of SLC25A13 presented variant clinical courses, followed by hypercitrullinemia and intrahepatic cholestasis in infancy. The conditions in the patients were self-limiting and spontaneously disappeared.

Cholestasis, Intrahepatic↗
PubMed2005

Long-term follow-up of a girl with primary aldosteronism: effect of potassium supplement.

UNLABELLED: We followed up a girl with primary aldosteronism for 8 y, which was diagnosed at 6 y of age when she was referred to us for evaluation of heart murmur and growth failure. The diagnosis of bilateral adrenal hyperplasia was made by selective adrenal venous sampling. Following potassium supplement, her retarded growth was corrected dramatically, and she attained a normal adult height. Puberty developed normally and menarche occurred at 12 y of age. Blood pressure was also controlled adequately. Myocardial hypertrophy associated with aortic damage was noted at 13 y of age. Chronic renal failure developed with proteinuria and enlarged renal cysts. CONCLUSION: Serum electrolytes should be included in the evaluation of children with impaired growth. Although primary aldosteronism is a rare occurrence in children, the condition appears to deserve special attention not only from the viewpoint of growth failure and hypokalaemia but from the occurrence of late organ damage to the kidney and heart.

Adolescent↗
PubMed2005

[Fetus and magnesium].

Chronic magnesium deficiency in pregnant women is frequently seen because of inadequate or low intake of magnesium. Magnesium deficiency during pregnancy can induce not only maternal and fetal nutritional problem, but also pediatric consequences that might last throughout life. Many epidemiological studies have disclosed that restricted fetal growth, i.e., intrauterine growth retardation (IUGR) is associated with an increased risk of insulin resistance in adult life. We previously postulated that intracellular magnesium of cord blood platelets is lower in the small for gestational age than in the appropriate for gestational age group, suggesting chronic intrauterine magnesium deficiency may result in IUGR. Taken together, chronic intrauterine magnesium deficiency in the fetus may lead to or program the insulin resistance after birth. Prospective study whether the children born with magnesium induced IUGR are at high-risk for metabolic syndrome in childhood or adulthood is currently undertaken.

Female↗
PubMed2004

Relationship of intracellular magnesium of cord blood platelets to birth weight.

Magnesium (Mg(2+)) has an important role in insulin action, and insulin stimulates Mg(2+) uptake in insulin-sensitive tissues. Impaired biologic responses to insulin are referred to as insulin resistance. Diabetic patients and obese subjects are reported to have intracellular magnesium ([Mg(2+)](i)) deficiency. Many epidemiologic studies have disclosed that restricted fetal growth has been associated with increased risk of insulin resistance in adult life. We studied the relationship of [Mg(2+)](i) in cord blood platelets to birth weight. The subjects were 19 infants who were small for gestational age (SGA) and 45 who were appropriate for gestational age (AGA). By using a fluorescent probe, mag-fura-2, we examined the basal and insulin-stimulated [Mg(2+)](i) of platelets in the cord blood. Cord plasma insulin-like growth factor-1 (IGF-1)and leptin levels were determined with the use of enzyme-linked immunosorbent assay (ELISA). Birth weight was correlated with cord plasma IGF-1 (P < .001) and leptin (P < .005). Mean basal [Mg(2+)](i), but not plasma Mg(2+), was lower in the SGA than in the AGA group (291 +/- 149 micromol/L v 468 +/- 132 micromol/L, P < .001). The basal [Mg(2+)](i) was significantly correlated with the birth weight (P < .001) as well as birth length (P < .001). At 60 seconds after stimulation with insulin, there was no significant difference in stimulated [Mg(2+)](i) between the SGA and AGA groups. Although the SGA group had low [Mg(2+)](i), the platelets had good potentiality to compensate for low [Mg(2+)](i). [Mg(2+)](i) reflects the extent of fetal growth. Decreased [Mg(2+)](i) in SGA might underlie the initial pathophysiologic events leading to insulin resistance.

Birth Weight↗
PubMed2004

Intracellular magnesium and insulin resistance.

UNLABELLED: Magnesium, the second most abundant intracellular divalent cation, is a cofactor of many enzymes involved in glucose metabolism. Magnesium has an important role in insulin action, and insulin stimulates magnesium uptake in insulin-sensitive tissues. Impaired biological responses to insulin is referred to as insulin resistance. This review was designed to reach a better understanding of the mechanism involved in the correlation between magnesium and insulin resistance. Intracellular magnesium concentration is low in type 2 diabetes mellitus and in hypertensive patients. In patients with type 2 diabetes an inverse association exists between the plasma magnesium and insulin resistance due to intracellular changes. The suppressed intracellular magnesium concentration may result in defective tyrosine kinase activity and modify insulin sensitivity by influencing receptor activity after binding or by influencing intracellular signaling and processing. Intracellular magnesium deficiency may affect the development of insulin resistance and alter the glucose entry into the cell. CONCLUSIONS: Magnesium is required for both proper glucose utilization and insulin signaling. Metabolic alterations in cellular magnesium, which may play the role of a second messenger for insulin action, contribute to insulin resistance.

Blood Cells↗
PubMed2003

Transmesenteric hernia: report of two patients with diagnostic emphasis on plain abdominal X-ray findings.

UNLABELLED: Transmesenteric hernia is a rare cause of small bowel obstruction and is seldom diagnosed preoperatively, partly because of unfamiliarity with this type of internal hernia. The clinical symptoms of internal hernia may be intermittent and nonspecific, making the diagnosis extremely difficult. We report two patients, 7- and 5-year-old girls, with mesenteric hernia of the ileum. Because of the difficulty of clinical diagnosis of internal hernia, imaging studies played a crucial role. We would like to stress the importance of plain radiological findings as diagnostic aids. CONCLUSION: a consistent intestinal gas imaging after some interval suggests the possibility of an internal hernia, especially accompanied with a circular or oval defect of the gas shadows in the middle of the abdomen. A serial abdominal X-ray study can be helpful in the diagnosis of internal hernia.

Child↗
PubMed2003

Congenital dilatation of the bile duct: changes in diagnostic tools over the past 19 years.

BACKGROUND: Because of recent improvements in diagnostic procedures, many cases of congenital dilatation of the bile duct (CDBD) have been diagnosed in early life. To determine the mode of presentation and changes in diagnostic tools, medical records of 34 children (25 girls, nine boys) with CDBD who were treated between 1982 and 2000 were reviewed. RESULTS: The age at presentation ranged from 0 to 16 years (median 4.9 +/- 0.7 years), with two patients being diagnosed using prenatal ultrasonography. Of the 32 patients diagnosed post-natally, 21 (66%) complained of abdominal pain. There were also 21 (66%) cases of vomiting. Sixteen patients (50%) experienced both these symptoms. Ten (31%) cases presented with jaundice and three (9%) presented with a palpable mass. Ultrasonography was used as a diagnostic tool in 29 cases (85%). The finding of a dilated common bile duct on abdominal ultrasonography was helpful for early diagnosis. Spiral computed tomography was also a useful and accurate imaging method for diagnosis. Anomalous pancreaticobiliary junction (PBJ) was demonstrated in 44% of patients with CDBD. Magnetic resonance cholangiopancreatography, which can be performed non-invasively, is useful for the diagnosis and pre-operative assessment of CDBD in children. The average length of time from presentation to diagnosis could be shortened from 46 days (1982-1988) to 13 days (1995-2000). CONCLUSION: Recent improvements in diagnostic procedures make immediate, non-invasive diagnosis of CDBD and PBJ possible.

Adolescent↗
PubMed2003

Intracellular magnesium of platelets in children with diabetes and obesity.

Magnesium (Mg(2+)), the second most abundant intracellular cation, is a critical cofactor in numerous enzymatic reactions. By using a fluorescent probe, mag-fura-2, we examined the basal levels and changes in intracellular Mg(2+)([Mg(2+)](i)) of platelets in diabetic and obese children. Under the basal condition, the platelet [Mg(2+)](i) of both type 1 and type 2 diabetes mellitus (DM) and the obesity groups was significantly lower than the values in the nondiabetic control group (377 +/- 62 micromol/L, 312 +/- 72 micromol/L, 373 +/- 35 micromol/L v 594 +/- 62 micromol/L, respectively, P <.05). [Mg(2+)](i) was increased after the stimulation with 100 microU/mL of insulin. After 60 seconds of insulin stimulation, the value of [Mg(2+)](i) was lower in the type 1 DM group compared with the control group (729 +/- 85 micromol/L v 1,078 +/- 67 micromol/L, P <.005). The increase in percentage over the resting [Mg(2+)](i) was higher in the type 2 DM group than in the stimulated control group (222% +/- 51% v 98% +/- 18 %, P <.05), although the stimulated [Mg(2+)](i) did not reach the level of the control group. The diabetic patients and obese subjects have [Mg(2+)](i) deficiency. In the type 2 DM and obese groups, platelets responded well to insulin. In children under insulin-resistant states, [Mg(2+)](i) decreases before the poor reactivity to insulin occurs in platelets. Decreased [Mg(2+)](i) might underlie the initial pathophysiologic events leading to insulin resistance and abnormality of platelet coagulation.

Adolescent↗