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Ethylene response factors (ERFs) comprise one of the largest transcription factor families in many plant species. Tobacco (Nicotiana tabacum) ERF3 (NtERF3) and other ERF‐associated amphiphilic repression (EAR) motif‐containing ERFs are known to function as transcriptional repressors. NtERF3 and several repressor‐type ERFs induce cell death in tobacco leaves and are also associated with a defence response against tobacco mosaic virus (TMV).We investigated whether transcriptional activator‐type NtERFs function together with NtERF3 in the defence response against TMV infection by performing transient ectopic expression, together with gene expression, chromatin immunoprecipitation (ChIP) and promoter analyses.Transient overexpression of NtERF2 and NtERF4 induced cell death in tobacco leaves, albeit later than that induced by NtERF3. Fusion of the EAR motif to the C‐terminal end of NtERF2 and NtERF4 abolished their cell death‐inducing ability. The expression of NtERF2 and NtERF4 was upregulated at the early phase of N gene‐triggered hypersensitive response (HR) against TMV infection. The cell death phenotype induced by overexpression of wild‐type NtERF2 and NtERF4 was suppressed by co‐expression of an EAR motif‐deficient form of NtERF3. Furthermore, ChIP and promoter analyses suggested that NtERF2, NtERF3 and NtERF4 positively or negatively regulate the expression of NtERF3 by binding to its promoter region.Overall, our results revealed the cell death‐inducing abilities of genes encoding activator‐type NtERFs, including NtERF2 and NtERF4, suggesting that the HR‐cell death signalling via the repressor‐type NtERF3 is competitively but coordinately regulated by these NtERFs. [ABSTRACT FROM AUTHOR]

Aim: To clarify the prevalence and degree of maternal microchimerism in Japanese children with type 1 diabetes, as well as its effect on phenotypic variation. Methods: We studied 153 Japanese children with type 1 diabetes, including 124 children positive for β‐cell autoantibodies, and their 71 unaffected siblings. The number of circulating microchimeric cells per 105 host cells was estimated by the use of quantitative‐polymerase chain reaction targeting non‐transmitted maternal human leukocyte antigen alleles. The results were compared to previous data from white European people. Phenotypic comparison was performed between maternal microchimerism carriers and non‐carriers with diabetes. Results: Maternal microchimerism was detected in 15% of children with autoantibody‐positive type 1 diabetes, 28% of children with autoantibody‐negative type 1 diabetes, and 16% of unaffected siblings. There were no differences in the prevalence or levels of maternal microchimerism among the three groups or between the children with type 1 diabetes and their unaffected siblings. Furthermore, maternal microchimerism carriers and non‐carriers exhibited similar phenotypes. Conclusions: Maternal microchimerism appears to be less common in Japanese children with type 1 diabetes than in white European people. Our data indicate that maternal microchimerism is unlikely to be a major trigger or a phenotypic determinant of type 1 diabetes in Japanese children and that the biological significance of maternal microchimerism in type 1 diabetes may differ among ethnic groups. What's new?: Maternal microchimerism appears to be less common in Japanese children with type 1 diabetes than in white European people with this condition.Circulating microchimeric cells are unlikely to be a major trigger or a phenotypic determinant of type 1 diabetes in Japanese children.The biological significance of maternal microchimerism in type 1 diabetes may differ among ethnic groups. [ABSTRACT FROM AUTHOR]

Genetic abnormalities in mitochondrial complex assembling factors are associated with leukoencephalopathy. We present a 1‐year‐old girl with consciousness disturbance after a respiratory infection. Brain MRI revealed leukoencephalopathy with bilaterally symmetrical hyperintensity in the substantia nigra, medial thalamic nuclei, and basal nuclei, as well as cavities in the cerebral white matter and corpus callosum. Lactate levels in the spinal fluid were high, while magnetic resonance spectroscopy of the cerebral white matter and basal nuclei showed high peak lactate levels, suggesting mitochondrial dysfunction. The respiratory enzyme activity of complex I was reduced to 17% to 21% in skeletal muscle. Whole exome sequencing identified compound heterozygous variations in NDUFAF3, involved in the assembly of mitochondrial complex I (c.342_343insGTG:p.117Valdup, c.505C > A:p.Pro169Thr). Two‐dimensional, blue‐native polyacrylamide gel electrophoresis (PAGE) and sodium dodecyl sulfate‐PAGE revealed reductions in Q‐module (NDUFS2, NDUFS3, and NDUFA9) and P‐module (NDUFB10 and NDUFB11) subunits, indicating disruption of mitochondrial complex I assembly. Our report expands the spectrum of clinical phenotypes associated with pathogenic variants of NDUFAF3. [ABSTRACT FROM AUTHOR]

Aim To examine the contribution of PTPN2 coding variants to the risk of childhood-onset Type 1A diabetes. Methods PTPN2 mutation analysis was carried out for 169 unrelated Japanese people with childhood-onset Type 1A diabetes. We searched for coding variants that were absent or extremely rare in the general population and were scored as damaging by multiple in silico programs. We performed mRNA analysis and three-dimensional structural prediction of the detected variants, when possible. We also examined possible physical links between these variants and previously reported risk SNPs as well as clinical information from variant-positive children. Results One frameshift variant (p.Q286Yfs*24) and two probably damaging missense substitutions (p.C232W and p.R350Q) were identified in one child each. Of these, p.Q286Yfs*24 and p.C232W were hitherto unreported, while p.R350Q accounted for 2/121,122 alleles of the exome datasets. The p.Q286Yfs*24 variant did not encode stable mRNA, and p.C232W appeared to affect the structure of the tyrosine-protein phosphatase domain. The three variants were physically unrelated to known risk SNPs. The variant-positive children manifested Type 1A diabetes without additional clinical features and invariably carried risk human leukocyte antigen alleles. Conclusions The results provide the first indication that PTPN2 variants contribute to the risk of Type 1A diabetes, independently of known risk SNPs. PTPN2 coding variants possibly induce non-specific Type 1A diabetes phenotypes in individuals with human leukocyte antigen-mediated disease susceptibility. Our findings warrant further validation. [ABSTRACT FROM AUTHOR]

Azoospermia affects up to 1% of adult men. Non-obstructive azoospermia is a multifactorial disorder whose molecular basis remains largely unknown. To date, mutations in several genes and multiple submicroscopic copy-number variations ( CNVs) have been identified in patients with non-obstructive azoospermia. The aim of this study was to clarify the contribution of nucleotide substitutions in known causative genes and submicroscopic CNVs in the genome to the development of non-obstructive azoospermia. To this end, we conducted sequence analysis of 25 known disease-associated genes using next-generation sequencing and genome-wide copy-number analysis using array-based comparative genomic hybridization. We studied 40 Japanese patients with idiopathic non-obstructive azoospermia. Functional significance of molecular alterations was assessed by in silico analyses. As a result, we identified four putative pathogenic mutations, four rare polymorphisms possibly associated with disease risk, and four probable neutral variants in 10 patients. These sequence alterations included a heterozygous splice site mutation in SOHLH1 and a hemizygous missense substitution in TEX11, which have been reported as causes of non-obstructive azoospermia. Copy-number analysis detected five X chromosomal or autosomal CNVs of unknown clinical significance, in addition to one known pathogenic Y chromosomal microduplication. Five patients carried multiple molecular alterations. The results indicate that monogenic and oligogenic mutations, including those in SOHLH1 and TEX11, account for more than 10% of cases of idiopathic non-obstructive azoospermia. Furthermore, this study suggests possible contributions of substitutions in various genes as well as submicroscopic CNVs on the X chromosome and autosomes to non-obstructive azoospermia, which require further validation. [ABSTRACT FROM AUTHOR]

Aims A majority of children with Type 1 diabetes in Japan are registered with the government-subsidized Specified Pediatric Chronic Disease Treatment Research Projects ( SPCDTRP). In this study, the incidence and prevalence of childhood-onset (< 15 years) Type 1 diabetes in Japan were estimated by drawing on SPCDTRP data. Methods Data available for 2005-2012 from the SPCDTRP and Statistics Bureau, Ministry of Internal Affairs and Communications were used to estimate the incidence of Type 1 diabetes for 2005-2010, adjusted to cover those registered within 3 years of disease onset and stratified by sex, age at onset and period of onset. Results The incidence of Type 1 diabetes for 2005-2010 was 2.25/100,000 persons [95% confidence intervals (95% CI), 2.14-2.36] (boys: 1.91, 95% CI, 1.83-1.98; girls: 2.52, 95% CI, 2.34-2.69), with that for the age brackets 0-4, 5-9 and 10-14 years being 1.48 (95% CI, 1.29-1.66), 2.27 (95% CI, 2.08-2.47) and 3.00 (95% CI, 2.74-3.25), respectively. The onset of disease was shown to peak at age 13 among boys (3.28, 95% CI, 3.02-3.55) and at age 10 among girls (3.28, 95% CI, 3.02-3.55). The peak periods of disease onset were April/May and December. The number of children aged < 15 years with Type 1 diabetes for 2005-2012 was estimated to be 2326 (95% CI, 2202-2450) with the prevalence estimated as 13.53/100,000 persons (95% CI, 12.63-14.43). Conclusions Study findings demonstrated no increase in the incidence of Type 1 diabetes, although suggesting, in agreement with earlier reports, that the onset of disease peaks in adolescence with a female predominance. In addition, the incidence of childhood-onset diabetes exhibited an annual bimodal pattern in this study. [ABSTRACT FROM AUTHOR]

Although complex chromosomal rearrangements were thought to reflect the accumulation of DNA damage over time, recent studies have shown that such rearrangements frequently arise from 'all-at-once' catastrophic cellular events. These events, designated chromothripsis, chromoanasynthesis, and chromoanagenesis, were first documented in the cancer genome and subsequently observed in the germline. These events likely result from micronucleus-mediated chromosomal shattering and subsequent random reassembly of DNA fragments, although several other mechanisms have also been proposed. Typically, only one or a few chromosomes of paternal origin are affected per event. These events can produce intrachromosomal deletions, duplications, inversions, and translocations, as well as interchromosomal translocations. Germline complex rearrangements of autosomes often result in developmental delay and dysmorphic features, whereas X chromosomal rearrangements are usually associated with relatively mild clinical manifestations. The concept of these catastrophic events provides novel insights into the etiology of human genomic disorders. This review introduces the molecular characteristics and phenotypic outcomes of catastrophic cellular events in the germline. [ABSTRACT FROM AUTHOR]

Aim To examine the contribution of the FUT2 gene and ABO blood type to the development of Type 1 diabetes in Japanese children. Methods We analysed FUT2 variants and ABO genotypes in a total of 531 Japanese children diagnosed with Type 1 diabetes and 448 control subjects. The possible association of FUT2 variants and ABO genotypes with the onset of Type 1 diabetes was statistically examined. Results The se2 genotype (c.385A>T) of the FUT2 gene was found to confer susceptibility to Type 1A diabetes in a recessive effects model [odds ratio for se2/se2, 1.68 (95% CI 1.20-2.35); corrected P value = 0.0075]. Conclusions The FUT2 gene contributed to the development of Type 1 diabetes in the present cohort of Japanese children. [ABSTRACT FROM AUTHOR]

Aims The aim of this study was to clarify the significance of previously reported susceptibility variants in the development of autoimmune Type 1 diabetes in non-white children. Tested variants included rs2290400, which has been linked to Type 1 diabetes only in one study on white people. Haplotypes at 17q12-q21 encompassing rs2290400 are known to determine the susceptibility of early-onset asthma by affecting the expression of flanking genes. Methods We genotyped 63 variants in 428 Japanese people with childhood-onset autoimmune Type 1 diabetes and 457 individuals without diabetes. Possible association between variants and age at diabetes onset was examined using age-specific quantitative trait locus analysis and ordered-subset regression analysis. Results Ten variants, including rs2290400 in GSDMB, were more frequent among the people with Type 1 diabetes than those without diabetes. Of these, rs689 in INS and rs231775 in CTLA4 yielded particularly high odds ratios of 5.58 (corrected P value 0.001; 95% CI 2.15-14.47) and 1.64 (corrected P value 5.3 × 10-5; 95% CI 1.34-2.01), respectively. Age-specific effects on diabetes susceptibility were suggested for rs2290400; heterozygosity of the risk alleles was associated with relatively early onset of diabetes, and the allele was linked to the phenotype exclusively in the subgroup of age at onset ≤ 5.0 years. Conclusions The results indicate that rs2290400 in GSDMB and polymorphisms in INS and CTLA4 are associated with the risk of Type 1 diabetes in Japanese children. Importantly, cis-regulatory haplotypes at 17q12-q21 encompassing rs2290400 probably determine the risk of autoimmune Type 1 diabetes predominantly in early childhood. [ABSTRACT FROM AUTHOR]

Recent studies have suggested that disomic oocyte-mediated uniparental disomy 15 ( UPD(15)mat) is increased in patients with Prader-Willi syndrome ( PWS) born after medically assisted reproduction ( MAR). However, it remains unknown whether the increase is primarily due to MAR procedure itself or advanced maternal childbearing ages as a predisposing factor for the disomic oocyte production. To examine this matter, we studied 122 naturally conceived PWS patients ( PWS-NC group) and 13 MAR-conceived patients ( PWS-MAR group). The relative frequency of disomic oocyte-mediated UPD(15)mat was significantly higher in PWS-MAR group than in PWS-NC group (7/13 vs 20/122, p = 0.0045), and the maternal childbearing ages were significantly higher in PWS-MAR group than in PWS-NC group [median (range), 38 (26-45) vs 30 (19-42), p = 0.0015]. However, the logistic regression analysis revealed no significant association between the occurrence of disomic oocyte-mediated UPD(15)mat and MAR, after adjusting for childbearing age (p = 0.25). Consistent with this, while the frequency of assisted reproductive technology ( ART)-conceived livebirths was higher in the PWS patients than in the Japanese general population (6.4% vs 1.1%, p = 0.00018), the distribution of childbearing ages was significantly skewed to the increased ages in the PWS patients (p < 2.2 × 10−16). These results argue against a positive association of MAR procedure itself with the development of UPD(15)mat. [ABSTRACT FROM AUTHOR]

We previously reported that one of the ethylene response factors ( ERFs), Nt ERF3, and other members of the subgroup VIII-a ERFs of the AP2/ ERF family exhibit cell death-inducing ability in tobacco leaves. In this study, we focused on the involvement of Nt ERF3 in a cell death signalling pathway in tobacco plants, particularly downstream of Nt SIPK/Nt WIPK and Nt WRKY1, which are mitogen-activated protein kinases and a phosphorylation substrate of Nt SIPK, respectively. An ERF-associated amphiphilic repression ( EAR) motif-deficient Nt ERF3b mutant ( Nt ERF3bΔ EAR) that lacked cell death-inducing ability suppressed the induction of cell death caused by Nt ERF3a. The transient co-expression of Nt ERF3bΔ EAR suppressed the hypersensitive reaction ( HR)-like cell death induced by Nt SIPK and Nt WRKY1. The induction of cell death by Nt SIPK and Nt WRKY1 was also inhibited in transgenic plants expressing Nt ERF3bΔ EAR. Analysis of gene expression, ethylene production and cell death symptoms in salicylic acid-deficient tobacco plants suggested the existence of some feedback regulation in the HR cell death signalling pathway mediated by SIPK/ WIPK and WRKY1. Overall, these results suggest that Nt ERF3 functions downstream of Nt SIPK/ Nt WIPK and Nt WRKY1 in a cell death signalling pathway, with some feedback regulation. [ABSTRACT FROM AUTHOR]

The IGF2/ H19-imprinting control region ( ICR1) functions as an insulator to methylation-sensitive binding of CTCF protein, and regulates imprinted expression of IGF2 and H19 in a parental origin-specific manner. ICR1 methylation defects cause abnormal expression of imprinted genes, leading to Beckwith-Wiedemann syndrome ( BWS) or Silver-Russell syndrome ( SRS). Not only ICR1 microdeletions involving the CTCF-binding site, but also point mutations and a small deletion of the OCT-binding site have been shown to trigger methylation defects in BWS. Here, mutational analysis of ICR1 in 11 BWS and 12 SRS patients with ICR1 methylation defects revealed a novel de novo point mutation of the OCT-binding site on the maternal allele in one BWS patient. In BWS, all reported mutations and the small deletion of the OCT-binding site, including our case, have occurred within repeat A2. These findings indicate that the OCT-binding site is important for maintaining an unmethylated status of maternal ICR1 in early embryogenesis. [ABSTRACT FROM AUTHOR]

Stoppa-Vaucher S, Ayabe T, Paquette J, Patey N, Francoeur D, Vuissoz J-M, Deladoëy J, Samuels ME, Ogata T, Deal CL. 46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism. Familial recurrence risks are poorly understood in cases of de novo mutations. In the event of parental germ line mosaicism, recurrence risks can be higher than generally appreciated, with implications for genetic counseling and clinical practice. In the course of treating a female with pubertal delay and hypergonadotropic hypogonadism, we identified a new missense mutation in the SRY gene, leading to somatic feminization of this karyotypically normal XY individual. We tested a younger sister despite a normal onset of puberty, who also possessed an XY karyotype and the same SRY mutation. Imaging studies in the sister revealed an ovarian tumor, which was removed. DNA from the father's blood possessed the wild type SRY sequence, and paternity testing was consistent with the given family structure. A brother was 46, XY with a wild type SRY sequence strongly suggesting paternal Y-chromosome germline mosaicism for the mutation. In disorders of sexual development (DSDs), early diagnosis is critical for optimal psychological development of the affected patients. In this case, preventive karyotypic screening allowed early diagnosis of a gonadal tumor in the sibling prior to the age of normal puberty. Our results suggest that cytological or molecular diagnosis should be applied for siblings of an affected DSD individual. [ABSTRACT FROM AUTHOR]

The vicinal diketones (VDK), such as diacetyl and 2,3-pentandione, impart an unpleasant butter-like flavour to beer. Typically, these are required to be reduced below the flavour thresholds during the maturation (lagering) stages of the brewing process. To shorten beer maturation time, we constructed a self-cloning, bottom-fermenting yeast with low VDK production by integrating ILV5, a gene encoding a protein that metabolizes α-acetolactate and α-aceto- α-hydroxybutyrate (precursors of VDK). A DNA fragment containing Saccharomyces cerevisiae-type ILV5 was inserted upstream of S. cerevisiae-type ILV2 in bottom-fermenting yeast to construct self-cloning strains with an increased copy number of ILV5. Via transformation, ILV2 was replaced with the sulfometuron methyl (SM) resistance gene SMR1B, which differs by a single nucleotide, to create SM-resistant transformants. The wort fermentation test, using the SC- ILV5-homo inserted transformant, confirmed a consecutive reduction in VDK and a shortening period during which VDK was reduced to within the threshold. The concentrations of ethyl acetate, isoamyl acetate, isoamyl alcohol, 1-propanol, isobutyl alcohol and active isoamyl alcohol (flavour components) were not changed when compared with the parent strain. We successfully constructed self-cloning brewer's yeast in which SC- ILV5 was homo-inserted. Using the transformed yeast, the concentration of VDK in fermenting wort was reduced, whereas the concentrations of flavour components were not affected. This genetically stable, low VDK-producing, self-cloning bottom-fermenting yeast would contribute to the shortening of beer maturation time without affecting important flavour components produced by brewer's yeast. Copyright © 2012 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Although the involvement of cytomegalovirus (CMV) infections in the development of thrombotic microangiopathy (TMA) in HIV patients and transplant recipients has been reported, it is still controversial whether CMV itself can cause TMA. We report herein a rare case with rapid improvement of TMA by ganciclovir treatment in a patient who is neither HIV-positive nor a transplant recipient, suggesting a pathogenic role for CMV in TMA. [ABSTRACT FROM AUTHOR]

Kallmann syndrome (KS) is the combination of hypogonadotropic hypogonadism and anosmia or hyposmia, two features that are also frequently present in CHARGE syndrome. CHARGE syndrome is caused by mutations in the CHD7 gene. We performed analysis of CHD7 in 36 patients with KS and 20 patients with normosmic idiopathic hypogonadotropic hypogonadism (nIHH) in whom mutations in KAL1, FGFR1, PROK2 and PROKR2 genes were excluded. Three of 56 KS/nIHH patients had de novo mutations in CHD7. In retrospect, these three CHD7-positive patients showed additional features that are seen in CHARGE syndrome. CHD7 mutations can be present in KS patients who have additional features that are part of the CHARGE syndrome phenotype. We did not find mutations in patients with isolated KS. These findings imply that patients diagnosed with hypogonadotropic hypogonadism and anosmia should be screened for clinical features consistent with CHARGE syndrome. If such features are present, particularly deafness, dysmorphic ears and/or hypoplasia or aplasia of the semicircular canals, CHD7 sequencing is recommended. [ABSTRACT FROM AUTHOR]

Aim: Mechanical stimuli are important for maintaining organ structure and tissue function. To elucidate signalling pathways activated by mechanical stimuli, the contribution of mRNA stabilization to induction of egr-1 mRNA by medium flow was examined and the mechanisms responsible for stabilization were analysed. An early-response gene that encodes a transcription factor, egr-1, activates transcription of several genes in response to mechanical stimuli, and was therefore selected to resolve how early-induced signals are integrated and connected to subsequent response. Methods: Mouse osteoblast-like MC3T3E1 cells were stably transfected with the chloramphenicol acetyltransferase (CAT) gene linked to the egr-1 promoter, and inductions of endogenous egr-1 and transfected CAT mRNA following medium flow were compared using real-time reverse transcriptase PCR. The mechanism of induction was examined using a transcription inhibitor and mitogen-activated protein (MAP) kinase inhibitors. Activation of MAP kinases by medium flow was investigated using western blotting. Results: Induction of egr-1 mRNA by medium flow was twofold higher than CAT mRNA induction. Induction of egr-1 mRNA was also observed in cells pre-treated with transcription inhibitor. The p38 inhibitor SB203580 enhanced induction of egr-1 mRNA by medium flow. Extracellular signal regulated kinase (ERK), p38 and c-Jun N-terminal kinase (JNK) were activated by medium flow. Conclusion: A considerable part of egr-1 mRNA induction by medium flow may be due to mRNA stabilization. The p38 inhibitor SB203580 enhances induction. [ABSTRACT FROM AUTHOR]

Aim: We used a model of chronic unloading followed by reloading to examine the apoptotic responses associated with soleus muscle atrophy and subsequent recovery. Methods: Male Wistar rats were subjected to hindlimb unloading (HU) for 2 weeks and subsequent reloading for 0, 3, 7 and 14 days. One-half of the HU-reloaded rats were administered cyclosporine A (CsA), a calcineurin (CaN) inhibitor. Results: There was fibre atrophy (73%) and a decrease in slow type I fibre/myosin heavy chain (MyHC) composition in the soleus muscle after 2 weeks of HU. Fibre size and type I MyHC composition recovered to near the age-matched control levels by recovery day 14 in non-treated, but not in CsA-treated, rats. Myonuclear number was lower and the number of apoptotic nuclei higher in 2-week HU than control rats. These values returned to control levels after 7 and 14 days of recovery, respectively, in both HU-recovery groups. After 2 weeks of HU, the levels of heat shock proteins (Hsp) 60 and 72, mitochondrial cytochrome c oxidase subunit IV (Cox IV), and peroxisome proliferator-activated receptor gamma coactivator 1 (PGC-1) proteins were lower than control. The levels of all of these proteins gradually increased to or above the control levels during cage recovery in both groups. Conclusion: Our results indicate that apoptotic mechanisms are involved in the modulation of myonuclear number during chronic unloading and subsequent reloading. Furthermore, it appears that CaN is related to fibre size and phenotype adaptations, but not to apoptotic responses. [ABSTRACT FROM AUTHOR]

Bovine lactoferrin was administered orally, in feed, to six bottlenosed dolphins (Tursiops truncatus) before they were transported for approximately six hours; their stress responses were compared with those of five untreated dolphins. During the journey the dolphins had an increased plasma concentration of cortisol, and lymphopenia, eosinopenia and mild neutrophilia, indicating a stress response. The administration of lactoferrin did not affect the function of the dolphins' polymorphonuclear leucocytes, but affected their leucogram by maintaining the number of circulating eosinophils. [ABSTRACT FROM AUTHOR]

Background Patients with Obstructive Sleep Apnea Syndrome (OSAS) often experience gastroesophageal reflux disease (GERD). Aim To investigate gastric motility and autonomic nervous activity during sleep apnea. Methods The subjects of this study were 20 individuals with OSAS who experienced 10 or more sleep apnoea events per hour, as measured with a portable sleep polygraph. A percutaneous electrogastrography (EGG) and fast Fourier transformation analysis was carried out on the results. The mean amplitude was compared for bradygastria, normogastria and tachygastria. Spectral analysis of heart rate variability was performed, and low-frequency (LF) power, high-frequency (HF) power and the LF/HF ratio were measured. Oesophagogastroduodenal endoscopy was performed on each subject, and the presence of reflux oesophagitis (RE) was diagnosed according to the Los Angeles (LA) grade classification. Moreover, questionnaire for the diagnosis of reflux disease (QUEST) was carried out. Results Normogastria was significantly decreased, and brady-, tachygastria, or both were increased during sleep apnea ( P < 0.01). There was no significant relation between LA grade classification of RE and severity of OSAS. The LF/HF ratio was significantly higher during sleep apnea for patients with RE and OSAS, but the opposite for those with RE without OSAS. Decreased percutaneous arterial oxygen saturation and normogastria were independent risk factors for the severity of RE. Conclusions The present study suggested that, in addition to decreased pressure on the pleural cavity, factors affecting the development of RE might include abnormal gastric motility, low oxygen, and increased sympathetic nervous activity during sleep apnea. [ABSTRACT FROM AUTHOR]

BACKGROUND: It has been controversial whether HLA antibodies cause hemolytic transfusion reactions (HTR) or shortened red blood cell (RBC) survival. A patient is reported who had two episodes of HTR, the latter of which was likely due to RBC-reactive HLA antibodies. CASE REPORT: A 77-year-old woman, admitted for gastric varix rupture, had no RBC-irregular antibodies detected before transfusion. On Hospital Day 12, after transfusion of 2 units of RBCs and 2 units of fresh-frozen plasma, the first delayed hemolytic episode occurred and anti-E, anti-c, anti-Jka, and unidentified RBC-reactive antibodies were detected in a serum sample from Day 14. Two additional units of matched RBCs were transfused with a leukoreduction filter on Days 19 and 22. After 4 hours of starting a transfusion on Day 22, the patient had fever, and a second hemolytic episode was recorded. Multireactive HLA antibodies (reactive against 20 of 20 donor panel lymphocytes) were detected in serum samples from Day 15 to Day 21. These HLA antibodies reacted strongly with HLA-A2 and HLA-B7 antigens, corresponding to Bgc and Bga antigens on RBCs, respectively. RBCs transfused on Day 22 were found to be HLA-A2 by genotyping. CONCLUSION: Strong HLA alloantibodies in this recipient appear to have caused a HTR. It is suggested that HLA antibodies be considered in patients with unexplained HTRs. [ABSTRACT FROM AUTHOR]

High-cycle fatigue properties were investigated for Ti–5% Al–2.5% Sn ELI alloy with a mean α grain size of 80 μm, which had been used for liquid hydrogen turbo-pumps of Japanese-built launch vehicles. At cryogenic temperatures, the fatigue strength in high-cycle region did not increase in proportion to increments of the ultimate tensile strength and the fatigue strengths at around 106 cycles were about 300 MPa independent of test temperatures. Fatigue cracks initiated in the specimen interior independent of the test temperatures of 4 K, 77 K and 293 K. At 4 K and 77 K, several crystallographic facet-like structures were formed at crack initiation sites. On the other hand, there were no facet-like structures that could be clearly identified at the crack initiation sites at 293 K. Low fatigue strengths in longer-life region at cryogenic temperatures could be attributable to the formation of large sub-surface crack initiation sites, where large facet-like structure are formed. [ABSTRACT FROM AUTHOR]

Ten of 31 patients with steroid sulphatase (STS) deficiency were found to have an allergic disease (bronchial asthma, allergic rhinitis, or atopic dermatitis). STS deficiency may predispose patients to allergic disease. [ABSTRACT FROM AUTHOR]

The article presents an abstract of the medical research paper "The Damage of Spinal Cord Via Pathological Microglia Proliferation is Inhibited by Mild Hypothermia Treatment." This research examined the effect of mild hypothermia treatment on brain damage. It concluded that mild hypothermia is effective in treating secondary neuronal damage after spinal cord injury and inhibition of microglial proliferation may be one of the mechanisms of the mild hypothermia effect.

The article presents an abstract of the research paper "Adenosine Increases The Glutamate Uptake Activity Of Rat Cultured Astrocytes." The glutamate uptake activity of glial cells can better the excitotoxicity in various pathological conditions. In this research, it is found that addition of adenosine and 2-chloroadenosine increase glutamate uptake activity of rat cultured astrocytes. Adenosine-enhanced glutamate uptake activity of astrocytes inclues cAMP-PKA pathway and K-channel activation.