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Biomedical subjects

R Kuromaru

Publications and source records attributed to R Kuromaru.

At least 19 recordsLinked to original sources
PubMed2005

A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: a pitfall in enzymatic diagnosis for hyperammonaemia.

We report a patient who was first diagnosed as having congenital carbamoyl-phosphate synthetase-1 (CPS-1) deficiency on the basis of significantly low CPS-1 activity in the liver at 1 year of age. We then started therapy against hyperammonaemia with little effect and, at the age of 15 years, we analysed the GLUD1 gene and found a previously reported gain-of-function mutation in the gene, resulting in a change of her diagnosis to hyperinsulinism/hyperammonaemia (HI/HA) syndrome. This case demonstrates that low CPS-1 activity in liver, however significant it might be, does not always come from a primary CPS-1 deficiency and that we have to take into consideration the possibility of a secondary CPS-1 deficiency, such as HI/HA syndrome.

Adolescent↗
PubMed2002

Association study between CD30 and CD30 ligand genes and type 1 diabetes in the Japanese population.

CD30-CD30 ligand (CD30L) signal transduction appears to protect against autoimmune diabetes by preventing expansion of autoreactive T cells and suppressing Th1-cytokine response. The purpose of this study was to determine whether CD30 or CD30L genes serve as a novel susceptibility gene for type 1 diabetes in humans. We screened CD30 and CD30L genes for polymorphisms in Japanese patients with type 1 diabetes and control subjects. Then, association studies were performed between each of the identified polymorphisms and type 1 diabetes. Direct-sequencing analysis of the CD30 and CD30L genes revealed four polymorphisms: one in the CD30 gene (-201G/A from the transcription start site), and three in the CD30L gene [CA repeat in the promoter, 276G/A in the exon 3, -73T/C in the intron 3 (IVS3 -73T/C)]. Association studies revealed no association between the CD30 and CD30L genes and type 1 diabetes in the whole population. In the female and male subpopulations, however, the frequency of (CA)(9) allele of the CD30L gene promoter or T allele of IVS3 -73T/C polymorphism in the CD30L gene was slightly higher in female patients with type 1 diabetes than that in control females. In conclusion, we could not find significant association between CD30 or CD30L genes and type 1 diabetes, but (CA)(9) allele in the promotor or T allele of -73T/C in intron 3 in CD30L gene might play a minor role in the pathogenesis of type 1 diabetes, only in the Japanese female population.

Adolescent↗
PubMed2001

Association studies of CTLA-4, CD28, and ICOS gene polymorphisms with type 1 diabetes in the Japanese population.

Co-stimulatory molecules of CD28, cytotoxic T lymphocyte-associated antigen-4 (CTLA-4), and the newly identified inducible co-stimulator (ICOS) are expressed on cell surfaces and provide regulatory signals for T-cell activation. Their genes are candidate susceptibility genes for type 1 diabetes because they co-localize to Chromosome 2q33 with the IDDM12 locus. After determining the genomic structure and screening for polymorphisms of the ICOS gene, we performed association studies between newly identified polymorphisms of the ICOS gene, together with known polymorphisms of CD28 and CTLA-4 genes, and type 1 diabetes. The 49A/G dimorphism in exon 1 and the (AT)n in the 3' untranslated region of the CTLA-4 gene were significantly associated with type 1 diabetes. Evaluation of the CTLA-4 49A-3'(AT)n 86-bp haplotype frequency in patients and controls confirmed the results from the analysis of each polymorphic site. Dimorphism in intron 3 of the CD28 gene was associated with type 1 diabetes only in the early-onset group. In contrast, there was no association with the microsatellite polymorphisms in the ICOS gene or dimorphisms in the promotor region of CTLA-4. Of the three genes encoding co-stimulatory molecules, the CTLA-4 gene appears to confer risks for the development of type 1 diabetes.

Abatacept↗
PubMed2001

Association between birthweight and body mass index at 3 years of age.

BACKGROUND: Obesity in children is one of the risk factors for adulthood obesity, which then leads to the development of chronic diseases such as hypertension, hyperlipidemia and diabetes. In this study, we identified significant factors associating with the body mass index (BMI) at 3 years of age from the perinatal characteristics of children. METHODS: A total of 588 children were included in the study. The BMI at 3 years of age was examined in conjunction with the possible variables such as parents' smoking status during pregnancy, parents' age at birth, gestational age, sibling number and live birth order, sex, birthweight, BMI at 1 month of age, weight gain during the first month of life and feeding method at 1 month of age. RESULTS: Univariate analysis showed that birthweight (P<0.0001), weight gain during the first month of life (P=0.0012) and BMI at 1 month of age (P<0.0001) were significantly associated with the BMI at 3 years of age. Of these factors, birthweight and weight gain during the first month of life were the independent factors correlating with the BMI at 3 years by multivariate analysis (P<0.0001 and P=0.0095, respectively). CONCLUSIONS: Infants with higher birthweight and/or greater weight gain during the first month of life may have a risk of being overweight at 3 years of age.

Age Factors↗
PubMed2001

Hypothalamic hamartoma associated with an arachnoid cyst.

A hypothalamic hamartoma associated with an arachnoid cyst in an 8-year-old boy is reported herein. He presented with precocious puberty, and neuroimaging studies demonstrated a solid mass in the prepontine cistern and a huge arachnoid cyst in the left cranial fossa. The mass appeared isointense to the surrounding cerebral cortex on T1-weighted magnetic resonance images, hyperintense on T2-weighted images, and was not enhanced after administration of Gd-DTPA. The patient underwent a left frontotemporal craniotomy and a cyst-peritoneal shunt was inserted. Histological features of the cyst wall and the mass were characteristic of an arachnoid cyst and hamartoma, respectively. While a hypothalamic hamartoma associated with an arachnoid cyst is rare, such a case may help clarify the geneses of both anomalous lesions.

Arachnoid↗
PubMed1999

Rubinstein-Taybi syndrome: a girl with a history of neuroblastoma and premature thelarche.

A 7-year-old girl with Rubinstein-Taybi syndrome (RTS) who had a history of neuroblastoma and premature thelarche is reported. The neuroblastoma was detected at age 6 months on a nation-wide neuroblastoma screening program, surgically removed, and took a favorable clinical course with minimal therapy. She developed isolated breasts at age 6 years, had normal plasma levels of estradiol, follicular-stimulating hormone (FSH), and luteinizing hormone (LH), and showed a FSH-predominant pattern on the LH-releasing hormone stimulation test. In view of these findings, she was diagnosed to have premature thelarche. Premature thelarche may not be uncommon in girls with RTS.

Breast↗
PubMed1999

High-intensity basal ganglia lesions on T1-weighted images in two toddlers with elevated blood manganese with portosystemic shunts.

We report two toddlers with portosystemic shunts who had symmetrical high-signal globus pallidus lesions on T1- but not T2-weighted MRI, and measurement of whole blood manganese at 2 years of age. These cases suggest that portosystemic shunts can cause elevation of blood manganese and result in manganese accumulation in the globus pallidus, causing high signal on T1-weighted images even in asymptomatic toddlers.

Brain Diseases↗
PubMed1999

Long-term effect of growth hormone (GH) treatment on body composition in children with GH deficiency.

OBJECTIVE: It is important for GH-deficient children to treat abnormal body composition associated with a metabolic consequence, not only short stature. In this study we evaluated long-term effects of GH therapy on body composition in GH-deficient boys and girls. SUBJECTS AND METHODS: Forty-nine subjects with GH deficiency, 35 boys and 14 girls, 6 to 14 years of age, were studied. All the subjects were treated for three years with recombinant human GH at a weekly dosage of 0.5 IU/kg by subcutaneous daily injection. Body composition was measured by bioelectrical impedance analysis (BIA 101, Spectrum II 287, RJL Systems, Detroit, Mich). RESULTS: Body fat (%) decreased significantly during the first three months of GH treatment. These values were maintained low thereafter in boys, in contrast to those which continued to tend upward in girls from the second year of the treatment. Lean body mass (kg) increased significantly with increasing extracellular water (kg) and body cell mass (kg) in both sexes during GH treatment. CONCLUSION: Our data demonstrate that GH can reduce body fat mass in GH-deficient boys and girls. The gender difference in changes in body fat with age during the course of this study is compatible with that observed in normal children. The rapid increase in extracellular water and the gradual increase in body cell mass both contributed to the steady increase in LBM during GH treatment.

Adipose Tissue↗
PubMed1998

Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib.

Glycogen storage disease (GSD) type Ib is an autosomal recessive disorder caused by a deficiency in microsomal glucose 6-phosphate (G6P) translocase. A gene mutated in GSD type Ib patients has recently been isolated. We have determined the entire sequence of the human G6P translocase gene by PCR-directed sequencing. The gene spans approximately 5 kb of genomic DNA and contains eight exons. Analysis of DNA from a Japanese patient with GSD type Ib revealed new compound heterozygous mutations; a T to C transition at cDNA position 521 resulting in W118R, and an A to C transversion at the -2 splicing acceptor site of intron 1. Reverse transcription (RT)-PCR from leukocyte RNA of the patient revealed the abnormally spliced transcript. These results further support the suggestion that the gene is causative for GSD Ib and should be useful in the molecular diagnosis of such patients.

Antiporters↗
PubMed1998

Prevention of hypoglycaemia in a patient with type Ib glycogen storage disease by an amylase (alpha-glucosidase) inhibitor.

Patients with type Ib glycogen storage disease (GSD Ib) are susceptible to hypoglycaemic episodes. To determine whether an amylase (alpha-glucosidase) inhibitor, voglibose, can be useful in the control of hypoglycaemia, we tried it in a 14-y-old male with GSD Ib. Oral administration of voglibose prolonged the duration of normoglycaemia and reduced the incidence of hypoglycaemia attacks. These findings indicate that voglibose may be useful for preventing hypoglycaemia in GSD Ib patients.

Adolescent↗
PubMed1998

Long-term prospective study of body composition and lipid profiles during and after growth hormone (GH) treatment in children with GH deficiency: gender-specific metabolic effects.

GH has many effects on metabolism in addition to promoting growth. We studied changes in body composition and lipid profiles during and after GH treatment in 94 children with GH deficiency. Sixty-two subjects (46 boys and 16 girls) were evaluated at the beginning and during 36 months of GH treatment. The other 32 (21 boys and 11 girls) who had already been treated with GH were examined after the discontinuation of GH for a 6-month period. The height SD scores at the beginning and the discontinuation of GH treatment were -2.81 and -1.34 in boys and -3.14 and -1.38 in girls, respectively. The percent body fat (BF) significantly decreased from 16.5% to 11.7% in boys and from 16.7% to 11.6% in girls during the first 6 months of GH treatment (P < 0.01). BF subsequently remained constant in boys, but started to increase in girls from the 18th month of treatment. Lean body mass (kilograms) increased linearly throughout the treatment in both sexes (P < 0.01). Mean total cholesterol (TC) values decreased as a result of marked declines in low density lipoprotein cholesterol in both sexes, although statistical significance was detected only in boys (P < 0.01). High density lipoprotein cholesterol (HDLC) and apolipoprotein AI (Apo-AI) rapidly increased only in boys (P < 0.01). Triglyceride, Apo-AII, Apo-B, Apo-CII, Apo-CIII, Apo-E, and lipoprotein(a) showed no significant changes compared with baseline levels. Mean TC/HDLC and Apo-B/Apo-AI ratios decreased during treatment in both sexes, but the difference from baseline was significant only in boys (P < 0.01). After discontinuation of GH treatment, BF increased, and lean body mass decreased in boys (P < 0.01), whereas these variables did not change in girls. TC and low density lipoprotein cholesterol increased in boys within 6 months of discontinuing GH (P < 0.05). Other lipoproteins did not change in either sex, except for lipoprotein(a), which decreased significantly 6 months after the cessation of GH treatment in boys (P < 0.01). The mean TC/HDLC and Apo-B/Apo-AI ratios increased in boys slightly, but insignificantly. We concluded that GH treatment has beneficial effects on body composition and lipid profiles in both boys and girls with GH deficiency, although there are considerable gender differences. These beneficial effects of GH were reversed after the discontinuation of GH treatment, suggesting an important role of GH for GH-deficient children in the maintenance of normal metabolism even after the completion of linear growth.

Adolescent↗
PubMed1997

An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme: a carboxylase deficiency detected by newborn screening for maple syrup urine disease.

UNLABELLED: We describe an asymptomatic male infant with isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency who came to medical attention by newborn mass screening due to elevated blood leucine. The diagnosis was made by abnormal urinary organic acids at 20 days of age and was confirmed by assay of the carboxylase activities in cultured skin fibroblasts. CONCLUSION: More attention should be paid to slight elevations of leucine levels in newborn mass screening. Urinary organic acid analysis should be performed in conspicuous cases.

Carbon-Carbon Ligases↗
PubMed1997

The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients.

Ornithine transcarbamylase (OTC) deficiency is an X-linked trait and is one of the most frequent of the inherited urea cycle enzyme deficiencies. Most male patients with OTC deficiency develop a hyperammonemic crisis and die in the neonatal period or in early infancy. In contrast to those patients, in some male patients the disease first becomes overt in adolescence or during the reproductive age period. In the present report, we describe six such male patients who first developed clinical signs at ages ranging from 6 to 58 years, all of whom came from a limited area of the northern part of Kyushu Island in southern Japan. The mutation analysis disclosed a R40H mutation in exon 2 of the OTC gene in each of these patients. Transmission of this mutant gene through paternal lineage as well as through maternal lineage was documented in one family. The levels of mRNA of the mutant OTC gene expressed in transfected Cos 1 cells and in the liver tissue obtained by biopsy in one patient were both similar to those of the wild-type gene. The activity of the mutant OTC was, however, decreased to a level of 28% of the wild-type OTC, and the levels of the mutant OTC protein expressed in Cos 1 cells were decreased, as assessed by western blot analysis. Apparent Km values of the mutant enzyme for ornithine (1.1 mM) and carbamylophosphate (2.0 mM) were similar to those of the wild-type enzyme. Both enzymes gave similar pH-dependency profiles, giving a maximal activity at pH 7.8-7.9. Activity of wild-type OTC expressed in Cos 1 cells did not change after five cycles of freezing and thawing, whereas that of the mutant OTC decreased to 17% by this treatment. These results suggest that deficiency is due to inactivation of the mutant OTC under certain conditions.

Adolescent↗
PubMed1997

A simple WWW interface and quick response system-information query system for cross-sectional body dimensions.

We developed a query and analysis system for normal growth measurement of Japanese children on our WWW server using CGI. It has two subsystems. The first shows standard height and standard weight calculated by height. This subsystem can calculate the difference between measured height and the standard along with deviation and the ratio of measured weight to the standard weight. The second shows standard height, weight, head circumference, and chest circumference. This subsystem can calculate differences between the measurements and the standard as well as deviation. Because of the low amount of output required, very short turn-around time was required. This system also allows use of the same interface no matter which brand terminal is used and has wide reusability. This system will save doctors and nurses the difficulty of looking up a child's data, then having to make the calculation. We also compare the merits of CGI and Java.

Adolescent↗