Valve-sparing replacement of the aortic root after repair of tetralogy of Fallot.

Progressive aortic root dilatation is a common feature after surgical repair of tetralogy of Fallot. This report describes a successful valve-sparing replacement of the aortic root in a patient with significant dilated aortic root and aortic regurgitation after repair of tetralogy of Fallot.

Case Report: Adjuvant Therapy with a High Dose of Mitotane for Adrenocortical Carcinoma in a 4-year-old Boy.

This report concerns control of adrenocortical carcinoma in a 4-yr-old boy by adjuvant mitotane therapy. He presented precocious puberty and was diagnosed with adrenocortical carcinoma. He underwent surgical resection, and adjuvant mitotane therapy was initiated, leading to a final dose of 5.

PD-1 gene haplotype is associated with the development of type 1 diabetes mellitus in Japanese children.

Interaction between Programmed cell death-1 (PD-1), a member of costimulatory molecules, and its receptors Programmed cell Death-1 Ligand 1 (PD-L1) and Programmed cell Death-1 Ligand 2 (PD-L2), play an important role in the negative regulation of immune reactions. It was shown that a polymorphism in a regulatory site of the PD-1 gene was associated with susceptibility to several autoimmune diseases in various ethnic groups, whereas the contribution of the PD-1 gene or its ligand genes to the onset of type 1 diabetes (T1D) mellitus in the Japanese population remains unknown. We first screened PD-1, PD-L1, and PD-L2 genes for polymorphisms in the Japanese population, and then investigated the frequencies of polymorphisms in patients with T1D mellitus in comparison with healthy controls.

Late-onset ornithine transcarbamylase deficiency in male patients: prognostic factors and characteristics of plasma amino acid profile.

Background: The occurrence of male patients with ornithine transcarbamylase (OTC) deficiency during adolescence or in adulthood has now been recognized. The aim of this study was to determine the prognostic factors that affect the prognosis of life, to explore a basis for therapeutic strategy.

Methods: In 10 patients, nine of whom carried the R40H mutation and the other one carrying the Y55D mutation in the OTC gene, 32 demographic and laboratory data were first compared between survivors and non-survivors, using the unpaired t-test.

Improved diabetes control by using 'close adjustment algorithms'.

Background: Intensive insulin therapy increases the frequency of severe hypoglycemia despite markedly improved glycemic control in patients with type 1 diabetes mellitus. To determine the optimal dose of insulin, the authors designed algorithms based on self-monitored blood glucose levels.

Methods: Each dose of insulin was composed of two components: a basal dose determined on the basis of blood glucose levels over the previous two days and an additional dose determined on the basis of blood glucose level just before insulin injection.

Association study of human MTH1 gene polymorphisms with type 1 diabetes mellitus.

Reactive oxygen species are considered to play a role in the development of diabetes mellitus and its complications. Human MTH1 (mutT homologue 1) has 8-oxo-7,8-dihydrodeoxyguanosine triphosphatase activity, which repairs oxidized forms of dGTP. This enzyme is known to have a thermolabile Met83 variant.

Identification of a novel type 1 diabetes susceptibility gene, T-bet.

The gene encoding interferon (IFN)-gamma, IFNG, is known as one of the candidate susceptibility genes for type 1 diabetes. In addition, cytokines, including IFN-gamma, play important roles in the pathogenesis of type 1 diabetes. Therefore, we focused on the Th1-specific T-box transcription factor gene (T-bet), which contributes to the induction of the hallmark Th1 cytokine, IFN-gamma.

Quantification of circulating varicella zoster virus-DNA for the early diagnosis of visceral varicella.

Varicella zoster virus (VZV)-DNA was quantified in peripheral blood of 2 patients with visceral varicella due to endogenous reactivation. An 18-year-old male contracted varicella following the courses of chemotherapy for T cell lymphoma. Another 18-year-old male suffered from varicella 16 months after the complete engraftment of hematopoietic stem cell transplantation.

A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetes.

FOXP3/Scurfin, a member of forkhead/winged-helix proteins, is involved in the regulation of T-cell activation, and essential for normal immune homeostasis. The FOXP3/Scurfin gene is located on chromosome Xp11.23, which includes one of the type 1 diabetes susceptible loci.

Association study between interleukin-12 receptor beta1/beta2 genes and type 1 diabetes or asthma in the Japanese population.

Interleukin-12 (IL-12) secreted from macrophages or dendritic cells plays an important role in the protection against intracellular pathogens as well as the developmental commitment of T helper 1 cells. IL-12 exerts its biological effects through binding to specific IL-12 receptors (IL-12Rs) termed IL-12Rbeta1 and IL 12Rbeta2. In this paper, we performed association studies between the three reported polymorphisms (Q214R, M365T and G378R) of the IL-12Rbeta1 gene or the newly identified polymorphisms (P238L, IVS9 -7G>A, IVS13 -121G>A, A643T, P779P and c.

Association study of the NRAMP1 gene promoter polymorphism and early-onset type 1 diabetes.

Natural resistance-associated macrophage protein 1 (NRAMP1) has an important role in regulating macrophage functions that affect innate resistance as well as immune responses. We analyzed the microsatellite polymorphism in the promoter region of the human NRAMP1 gene in 206 type 1 diabetes patients and 200 normal children to determine whether this polymorphism might be associated with type 1 diabetes in the Japanese population. The frequency of allele 2 (180 bp) of the promoter microsatellite polymorphism of the NRAMP1gene was slightly lower in the early-onset population (2-10 years of age) of type 1 diabetes patients than in controls, although the difference did not reach statistical significance.

Changes in adiposity and excess body weight correlate with growth responses but not with decreases in low-density lipoprotein cholesterol levels during GH treatment in GH-deficient children.

Background And Aims: GH has profound effects on body composition and lipid metabolism in children as well as in adults. The relationship between such metabolic effects and the growth-promoting effects of GH has not been studied thoroughly in children with GH deficiency. This prospective study was designed to determine the relationship between growth and lipid metabolism during long-term GH treatment.

A case of growth hormone and gonadotropin deficiency associated with unilateral anophthalmia, microphallus, cryptorchidism, and mental retardation.

We report a rare case of growth hormone and gonadotropin deficiency associated with dysmorphic features. A 16-year-old boy had left anophthalmia, microphallus, bilateral cryptorchidism, and mental retardation. His chromosomal karyotype was normal, 46, XY.