Congenital inner ear malformations without sensorineural hearing loss in children.

Inner ear malformations are frequently found in patients with congenital hearing loss. It has been reported that normal hearing is rare in patients with severe inner ear vestibular malformations. A 9-year-old boy had had complained of recurrent dizziness and disequilibrium for 2 months.

MafB restricts M-CSF-dependent myeloid commitment divisions of hematopoietic stem cells.

While hematopoietic stem cell (HSC) self-renewal is well studied, it remains unknown whether distinct control mechanisms enable HSC divisions that generate progeny cells with specific lineage bias. Here, we report that the monocytic transcription factor MafB specifically restricts the ability of M-CSF to instruct myeloid commitment divisions in HSCs. MafB deficiency specifically enhanced sensitivity to M-CSF and caused activation of the myeloid master-regulator PU.

Translocation (1;10)(p34;p15) in infant acute myeloid leukemia with extramedullary infiltration in multiple sites.

Primary acute myeloid leukemia (AML) with extramedullary infiltration (EMI) in multiple sites is rare. Herein, we describe a case of infant AML with EMI in multiple sites. She had dyspnea and hypofibrinogenemia at diagnosis, and systemic computed tomography revealed EMI in the orbit, gingiva, bronchial pathway, and urinary tract.

The effective time and concentration of nitrous oxide to reduce venipuncture pain in children.

Study Objective: To investigate the time of administration and concentration of inhaled nitrous oxide (N(2)O) needed to reduce the pain associated with intravenous (i.v.) cannulation in children.

Escherichia coli O-157-induced hemolytic uremic syndrome: Usefulness of SCWP score for the prediction of neurological complication.

Background: Hemolytic uremic syndrome (HUS) is commonly caused by hemorrhagic colitis with Shiga toxin-producing Escherichia coli O-157. Central nervous system (CNS) involvements, including seizures, encephalopathy and brain infarction, are serious complications, but there are no useful scores for the prediction of CNS complications.

Methods: Routine laboratory data at onset of HUS were re-evaluated in 14 patients to find useful parameters for the prediction of CNS complication.

Diallyl sulfides in garlic activate both TRPA1 and TRPV1.

We searched for novel agonists of TRP receptors especially for TRPA1 and TRPV1 in foods. We focused attention on garlic compounds, diallyl sulfide (DAS), diallyl disulfide (DADS), and diallyl trisulfide (DATS). In TRPA1 or TRPV1 heterogeneously expressed CHO cells, all of those compounds increased [Ca(2+)](i) in concentration-dependent manner.

Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes.

Aims/hypothesis: Glucose-stimulated insulin secretion is defective in patients with type 2 diabetes. We sought to acquire new information about enzymes of glucose metabolism, with an emphasis on mitochondrial enzymes, by comparing pancreatic islets of type 2 diabetes patients with those of non-diabetic controls.

Methods: Expression of genes encoding 13 metabolic enzymes was estimated with microarrays and activities of up to nine metabolic enzymes were measured.

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

Mucolipidosis (ML) II alpha/beta and III alpha/beta are autosomal recessive diseases caused by a deficiency of alpha and/or beta subunits of the enzyme N-acetylglucosamine-1-phosphotransferase, which is encoded by the GNPTAB gene. We analyzed the GNPTAB gene in 25 ML II and 15 ML III Japanese patients. In most ML II patients, the clinical conditions 'stand alone', 'walk without support' and 'speak single words' were impaired; however, the frequency of 'heart murmur', 'inguinal hernia' and 'hepatomegaly and/or splenomegaly' did not differ between ML II and III patients.

Various expression patterns of alpha1 and alpha2 genes in IgA deficiency.

Background: IgA deficiency (IgAD) is the most common immunodeficiency, however the pathogenesis in most cases of IgAD is unknown. There are 2 subclasses of IgA, IgA1 and IgA2, and its heavy chains are encoded by 2 different genes, the alpha1 and alpha2 genes. To investigate the molecular pathogenesis of IgA deficiency, it is important to evaluate each of the expressions of IgA1 and IgA2 separately.

Age-related changes of transforming growth factor beta1 in Japanese children.

Background: Transforming growth factor beta1 (TGF beta 1) is an important factor in immunomodulation. The expression of TGF beta 1 has been shown to be influenced by the C-509T polymorphism in the TGF beta 1 gene. We investigated age-related changes of plasma TGF beta 1 levels in a birth-cohort study.

Comparison of mitochondrial A3243G mutation loads in easily accessible samples from a family with maternally inherited diabetes and deafness.

The mitochondrial A3243G mutation is most commonly related to the MELAS syndrome, but can cause many different clinical manifestations at various ages. Here, we present a family with maternally inherited diabetes and deafness (MIDD), the proband of which exhibits hearing loss, diabetes mellitus, cardiomyopathy and short stature. Four easily accessible samples (whole blood, hair roots, buccal scrapings and urinary sediment) from the proband and her 3 sons were simultaneously analyzed for heteroplasmic percentages of the A3243G mutation in their DNA.

A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD.

We studied 11 Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and found a common mutation, c.449-452delCTGA, which accounted for 45% of the mutations. Seven of 10 independent patients carried at least one copy of this mutation.

IL-10 plays an important role as an immune-modulator in the pathogenesis of atopic diseases.

Interleukin (IL)-10 has anti-inflammatory activities in various immune reactions and plays an important role in the regulation of immune diseases. In the present study, we examined the role of IL-10 in atopic diseases. Peripheral blood mononuclear cells (PBMCs) from healthy control subjects, patients with atopic dermatitis and patients with bronchial asthma were cultured with lipopolysaccharide (LPS).

Submergence tolerance conferred by Sub1A is mediated by SLR1 and SLRL1 restriction of gibberellin responses in rice.

Submergence-tolerant rice maintains viability during complete submergence by limiting underwater elongation until floodwaters recede. Acclimation responses to submergence are coordinated by the submergence-inducible Sub1A, which encodes an ethylene-responsive factor-type transcription factor (ERF). Sub1A is limited to tolerant genotypes and sufficient to confer submergence tolerance to intolerant accessions.

Evolutionary analysis of the Sub1 gene cluster that confers submergence tolerance to domesticated rice.

Background And Aims: Tolerance of complete submergence is recognized in a small number of accessions of domesticated Asian rice (Oryza sativa) and can be conferred by the Sub1A-1 gene of the polygenic Submergence-1 (Sub1) locus. In all O. sativa varieties, the Sub1 locus encodes the ethylene-responsive factor (ERF) genes Sub1B and Sub1C.

[QOL questionnaire for pediatric patients with bronchial asthma and their parents or caregivers. Preparation and evaluation of the short form version 2008 (Gifu)].

Background: The QOL questionnaire version 2001 for pediatric patients with bronchial asthma and their parents or caregivers includes 15 questions for patients under the age of 4 years and 20 questions for patients over the age of 4 years. We have already reported that the QOL questionnaire version 2001 reflects reliability (including reproducibility), factorial validity, and changes in paroxysmal attacks of asthma. In this study, we revised the questionnaire for use in routine medical practice.

Study of deep intronic sequence exonization in a Japanese neonate with a mitochondrial trifunctional protein deficiency.

Mitochondrial trifunctional protein (MTP) comprises heterooctamer alpha4beta4 and a deficiency in this protein causes a mitochondrial long-chain beta-oxidation defect. Here, we describe the molecular basis of an MTPbeta-subunit deficiency in a Japanese neonate. Mutation screening at the genomic level including all exons and exon-intron boundaries identified a novel c.

Hypothermia augments NF-kappaB activity and the production of IL-12 and IFN-gamma.

Background: The differentiation of Th1 and Th2 is strictly regulated by humoral and cellular factors. The imbalance between Th1 and Th2 is considered to be the pathogenesis of allergic and autoimmune disorders. It is important to elucidate the effect of environmental factors, such as temperature, on the expression of cytokines of Th1 and Th2.

Liver-specific silencing of the human gene encoding succinyl-CoA: 3-ketoacid CoA transferase.

The human succinyl-CoA: 3-ketoacid CoA transferase (SCOT) gene encodes the ketolytic enzyme that functions in the mitochondrial matrix. The activation of acetoacetate to acetoacetyl-CoA by SCOT is essential for the use of ketone bodies as an energy source. The ketolytic capacity of tissues is proportional to their level of SCOT activity.

A novel single-base substitution (c.1124A>G) that activates a 5-base upstream cryptic splice donor site within exon 11 in the human mitochondrial acetoacetyl-CoA thiolase gene.

Most mutations related to aberrant splicing occur in conserved splice acceptor and donor sites. Some exonic mutations also affect splicing. We identified and characterized a point mutation (c.

Inducible expression of microRNA-194 is regulated by HNF-1alpha during intestinal epithelial cell differentiation.

Maintenance of the intestinal epithelium is based on well-balanced molecular mechanisms that confer the stable and continuous supply of specialized epithelial cell lineages from multipotent progenitors. Lineage commitment decisions in the intestinal epithelium system involve multiple regulatory systems that interplay with each other to establish the cellular identities. Here, we demonstrate that the microRNA system could be involved in intestinal epithelial cell differentiation, and that microRNA-194 (miR-194) is highly induced during this process.

Induction of α1 and α2 gene expression in selective immunoglobulin A deficiency.

Immunoglobulin A deficiency (IgAD) is the most common immunodeficiency, but the pathogenesis of most cases of IgAD is poorly understood. The gene and protein expression levels of members of the IgA subclasses in IgAD patients were analyzed by a reverse transcriptase (RT)-PCR method that could differentiate between α1 and α2 gene expression. Three selective, 5 partial and 2 secondary IgAD patients were examined.

Protein-losing enteropathy associated with egg allergy in a 5-month-old boy.

Protein-losing enteropathy (PLE), the manifestation of a diverse set of disorders, is characterized by excessive loss of plasma proteins into the affected portions of the gastrointestinal tract, and this results in hypoalbuminemia. A 5-month-old breastfed boy presented severe PLE with hypogammaglobulinemia, hypocalcemia, and hypomagnesemia induced by an egg allergy. He developed hypocalcemic convulsions.