An electron microscopic study on differences in the fine structures of motor endplate in red, white and intermediate muscle fibers of rat intercostal muscle. A preliminary study

An electron microscopic study on the fine structural differences of motor endplates among the red, white and intermediate muscle fibers of the rat intercostal muscles was made and the following results were obtained. 1. In the motor endplate of the red fiber, the junctional folds were poorly developed and their number was small. 2. In the motor endplate of the white fiber, the junctional folds were well developed and their number was far more numerous than those in the red fiber. 3. The fine structure of the motor endplate of the intermediate fiber was of an intermediate character between the red and white fiber.</p

Molecular Bases and Phenotypic Determinants of Aromatase Excess Syndrome

Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder characterized by gynecomastia. This condition is caused by overexpression of CYP19A1 encoding aromatase, and three types of cryptic genomic rearrangement around CYP19A1, that is, duplications, deletions, and inversions, have been identified in AEXS. Duplications appear to have caused CYP19A1 overexpression because of an increased number of physiological promoters, whereas deletions and inversions would have induced wide CYP19A1 expression due to the formation of chimeric genes consisting of a noncoding exon(s) of a neighboring gene and CYP19A1 coding exons. Genotype-phenotype analysis implies that phenotypic severity of AEXS is primarily determined by the expression pattern of CYP19A1 and the chimeric genes and by the structural property of the fused exons with a promoter function (i.e., the presence or the absence of a natural translation start codon). These results provide novel information about molecular mechanisms of human genetic disorders and biological function of estrogens

Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions

Primer sequences utilized in BS/oxBS pyrosequencing and cloning-based sequencing. (XLSX 9.68 kb

Variational Monte Carlo studies of a t-J model on an anisotropic triangular lattice

With the insulating phase of \kappa-(BEDT-TTF)_2X in mind, we study a t-J model on an anisotropic triangular lattice, where the hopping integral is t' in one of the three directions, using a variational Monte Carlo method. By changing the value of t'/t, we study the stability of superconducting (SC) states with d- and d+id-wave symmetries and of an antiferromagnetic (AF) state. As t'/t decreases from 1, the stable state immediately switches from the d+id wave to the d wave. The AF state is stabilized from the normal spin liquid state for t'/t\lsim 0.7 at half filling. We also take account of Nagaoka ferromagnetism and a phase separation.Comment: 4 pages, 3 figure

Spontaneous intraperitoneal renal rupture with urinoma formation in the fetus

Spontaneous intraperitoneal renal rupture with urinoma formation in fetuses is an unusual condition that is caused by upper or lower urinary tract obstruction. We report the case of a neonatal male infant who presented with a spontaneous intraperitoneal right renal rupture accompanying ipsilateral ureterovesical junction obstruction (UVJO). Fetuses with UVJO accompanying contralateral multicystic dysplastic kidney should be observed carefully because of the risk of spontaneous renal rupture

Impact of transport pathways on the time from symptom onset of ST-segment elevation myocardial infarction to door of coronary intervention facility

AbstractBackgroundReducing total ischemic time is important in achieving better outcome in ST-segment elevation myocardial infarction (STEMI). Although the onset-to-door (OTD) time accounts for a large portion of the total ischemic time, factors affecting prolongation of the OTD time are not established.PurposeThe purpose of this study was to determine the impact of transport pathways on OTD time in patients with STEMI.Methods and subjectsWe retrospectively studied 416 STEMI patients who were divided into 4 groups according to their transport pathways; Group 1 (n=41): self-transportation to percutaneous coronary intervention (PCI) facility; Group 2 (n=215): emergency medical service (EMS) transportation to PCI facility; Group 3 (n=103): self-transportation to non-PCI facility; and Group 4 (n=57): EMS transportation to non-PCI facility. OTD time was compared among the 4 groups.Essential resultsMedian OTD time for all groups combined was 113 (63–228.8)min [Group 1, 145 (70–256.5); Group 2, 71 (49–108); Group 3, 260 (142–433); and Group 4, 184 (130–256)min]. OTD time for EMS users (Groups 2 and 4) was 138min shorter than non-EMS users (Groups 1 and 3). Inter-hospital transportation (Groups 3 and 4) prolonged OTD by a median of 132min compared with direct transportation to PCI facility (Groups 1 and 2). Older age, history of myocardial infarction, prior PCI, shock at onset, high Killip classification, and high GRACE Risk Score were significantly more frequent in EMS users.Principal conclusionsSelf-transportation without EMS and inter-hospital transportation were significant factors causing prolongation of the OTD time. Approximately 35% of STEMI patients did not use EMS and 21% of patients were transported to non-PCI facilities even though they called EMS. Awareness in the community as well as among medical professionals to reduce total ischemic time of STEMI is necessary; this involves educating the general public and EMS crews

Virus-Mediated Transient Expression Techniques Enable Functional Genomics Studies and Modulations of Betalain Biosynthesis and Plant Height in Quinoa

スーパー作物キヌアにおける遺伝子機能の解析技術を開発 --優れた環境適応性や栄養特性の謎を解き、作物開発を加速化--. 京都大学プレスリリース. 2021-03-19.Quinoa (Chenopodium quinoa), native to the Andean region of South America, has been recognized as a potentially important crop in terms of global food and nutrition security since it can thrive in harsh environments and has an excellent nutritional profile. Even though challenges of analyzing the complex and heterogeneous allotetraploid genome of quinoa have recently been overcome, with the whole genome-sequencing of quinoa and the creation of genotyped inbred lines, the lack of technology to analyze gene function in planta is a major limiting factor in quinoa research. Here, we demonstrate that two virus-mediated transient expression techniques, virus-induced gene silencing (VIGS) and virus-mediated overexpression (VOX), can be used in quinoa. We show that apple latent spherical virus (ALSV) can induce gene silencing of quinoa phytoene desaturase (CqPDS1) in a broad range of quinoa inbred lines derived from the northern and southern highland and lowland sub-populations. In addition, we show that ALSV can be used as a VOX vector in roots. Our data also indicate that silencing a quinoa 3, 4-dihydroxyphenylalanine 4, 5-dioxygenase gene (CqDODA1) or a cytochrome P450 enzyme gene (CqCYP76AD1) inhibits betalain production and that knockdown of a reduced-height gene homolog (CqRHT1) causes an overgrowth phenotype in quinoa. Moreover, we show that ALSV can be transmitted to the progeny of quinoa plants. Thus, our findings enable functional genomics in quinoa, ushering in a new era of quinoa research

Mamld1 Knockdown Reduces Testosterone Production and Cyp17a1 Expression in Mouse Leydig Tumor Cells

MAMLD1 is known to be a causative gene for hypospadias. Although previous studies have indicated that MAMLD1 mutations result in hypospadias primarily because of compromised testosterone production around the critical period for fetal sex development, the underlying mechanism(s) remains to be clarified. Furthermore, although functional studies have indicated a transactivation function of MAMLD1 for the non-canonical Notch target Hes3, its relevance to testosterone production remains unknown. To examine these matters, we performed Mamld1 knockdown experiments.Mamld1 knockdown was performed with two siRNAs, using mouse Leydig tumor cells (MLTCs). Mamld1 knockdown did not influence the concentrations of pregnenolone and progesterone but significantly reduced those of 17-OH pregnenolone, 17-OH progesterone, dehydroepiandrosterone, androstenedione, and testosterone in the culture media. Furthermore, Mamld1 knockdown significantly decreased Cyp17a1 expression, but did not affect expressions of other genes involved in testosterone biosynthesis as well as in insulin-like 3 production. Hes3 expression was not significantly altered. In addition, while 47 genes were significantly up-regulated (fold change >2.0×) and 38 genes were significantly down-regulated (fold change <0.5×), none of them was known to be involved in testosterone production. Cell proliferation analysis revealed no evidence for compromised proliferation of siRNA-transfected MLTCs.The results, in conjunction with the previous data, imply that Mamld1 enhances Cyp17a1 expression primarily in Leydig cells and permit to produce a sufficient amount of testosterone for male sex development, independently of the Hes3-related non-canonical Notch signaling