Diagnosing nocturnal frontal lobe epilepsy: A case study of two children

AbstractWe describe two children of nocturnal frontal lobe epilepsy (NFLE) diagnosed using carefully observed nocturnal sleep EEGs and detailed patient histories.Case #1, a 14-year-old boy, showed repeated generalized tonic convulsions and frequent eyes opening seizures during sleep. Conventional EEGs – done with the patient awake or in sleep stage I – showed no abnormalities, while a nocturnal sleep EEG – done during in sleep stage II – revealed the repeated, sharp wave bursts predominantly in the right frontal lobe characteristic of NFLE. During these wave bursts, we noticed the boy's eyes opening, although his parents had not been aware this NFLE symptom.Case #2, a 12-year-old boy, showed one daytime generalized convulsion. He had also been suffering from repeated paroxysmal episodes similar to parasomnia – waking up, sitting, walking, screaming, and speaking – which always followed the same patterns lasting several minutes. During the nocturnal sleep EEG, episodes occurred twice, showing abnormal epileptic discharges predominantly in the frontal lobe. His parents did not mention the episodes to us until questioned, as they had recognized them as parasomnia. The previous conventional EEG showed abnormal slow waves in the frontal lobe, which led us to suspect frontal lobe epilepsy and to take a detailed patient history.The frequency and stereotypy of their symptoms during sleep caused us to perform nocturnal sleep EEGs and led us NFLE diagnosis. Detailed patient histories including sleep habits and carefully observed nocturnal sleep EEGs enabled us to recognize these NFLE clinical features

Allelotypes of lung adenocarcinomas featuring ALK fusion demonstrate fewer onco- and suppressor gene changes

BACKGROUND: A subset of lung adenocarcinomas harboring an EML4-ALK fusion gene resulting in dominant oncogenic activity has emerged as a target for specific therapy. EML4-ALK fusion confers a characteristic histology and is detected more frequently in never or light smokers and younger patients. METHODS: To gain insights into etiology and carcinogenic mechanisms we conducted analyses to compare allelotypes of 35 ALK fusion-positive and 95 -negative tumours using single nucleotide polymorphism (SNP) arrays and especially designed software which enabled precise global genomic profiling. RESULTS: Overall aberration numbers (gains + losses) of chromosomal alterations were 8.42 and 9.56 in tumours with and without ALK fusion, respectively, the difference not being statistically significant, although patterns of gain and loss were distinct. Interestingly, among selected genomic regions, oncogene-related examples such as 1p34.3(MYCL1), 7q11.2(EGFR), 7p21.1, 8q24.21(MYC), 16p13.3, 17q12(ERBB2) and 17q25.1 showed significantly less gain. Also, changes in tumour suppressor gene-related regions, such as 9p21.3 (CDKN2A) 9p23-24.1 (PTPRD), 13q14.2 (RB1), were significantly fewer in tumours with ALK fusion. CONCLUSION: Global genomic comparison with SNP arrays showed tumours with ALK fusion to have fewer alterations in oncogenes and suppressor genes despite a similar overall aberration frequency, suggesting very strong oncogenic potency of ALK activation by gene fusion

Clusters of internally primed transcripts reveal novel long noncoding RNAs

Non- protein- coding RNAs ( ncRNAs) are increasingly being recognized as having important regulatory roles. Although much recent attention has focused on tiny 22- to 25- nucleotide microRNAs, several functional ncRNAs are orders of magnitude larger in size. Examples of such macro ncRNAs include Xist and Air, which in mouse are 18 and 108 kilobases ( Kb), respectively. We surveyed the 102,801 FANTOM3 mouse cDNA clones and found that Air and Xist were present not as single, full- length transcripts but as a cluster of multiple, shorter cDNAs, which were unspliced, had little coding potential, and were most likely primed from internal adenine- rich regions within longer parental transcripts. We therefore conducted a genome- wide search for regional clusters of such cDNAs to find novel macro ncRNA candidates. Sixty- six regions were identified, each of which mapped outside known protein- coding loci and which had a mean length of 92 Kb. We detected several known long ncRNAs within these regions, supporting the basic rationale of our approach. In silico analysis showed that many regions had evidence of imprinting and/ or antisense transcription. These regions were significantly associated with microRNAs and transcripts from the central nervous system. We selected eight novel regions for experimental validation by northern blot and RT- PCR and found that the majority represent previously unrecognized noncoding transcripts that are at least 10 Kb in size and predominantly localized in the nucleus. Taken together, the data not only identify multiple new ncRNAs but also suggest the existence of many more macro ncRNAs like Xist and Air

カンゴ ジッセン ノウリョク コウジョウ ノタメノ ガクシ カテイ ニオケル カンゴ キソ キョウイク ト ソノ ヒョウカ ホウホウ ノ コウチク ニ ムケテ ダイ 2 ホウ コキュウ ヲ トトノエル ギジュツ ニオケル カンゴ キョウイク ノ ゲンジョウ ト コンゴ ノ カダイ

多様化する国民のニーズや高度先端医療などに対応でき、安全・安心な医療を提供できる看護師の要請が求められている。我々は、本学学士課程における看護実践能力向上のための看護基礎教育とその評価方法の構築に向けて、現在の教授-学修方法の明確化が必要であると考え、本学科学生の教育課題である「呼吸を整える技術」に焦点を当て、呼吸に関わる授業状況の調査を専任教員へ実施した。本調査結果より、教員は呼吸に関する教育内容ごとに学習成果を明確に提示した上で教授の強化を図っていることが明らかとなった。今後の優先課題として、実際に患者を看る機会が少ない現状やその学習環境の制約を補うシミュレーション教育の新規導入を加味し、卒業時および領域別の看護技術到達目標とその到達度の再設定が必要であることが示唆された

カンゴ ジッセン ノウリョク コウジョウ ノタメノ ガクシ カテイ ニオケル カンゴ キソ キョウイク ト ソノ ヒョウカ ホウホウ ノ コウチク ニ ムケテ ダイ 1 ホウ ヘイセイ 21 ～ 23 ネンド ソツギョウ ジ カンゴ ギジュツ トウタツ ド ノ ブンセキ

本看護学科では、看護学生の卒業時看護技術到達度の評価を平成21年度より継続してきた。平成23年度には大項目22項目・小項目119項目からなる調査票を見直し「学生の到達度の自己評価」と「臨地実習での経験」を把握できる評価尺度に改訂した。本研究は、平成21〜23年度までの3年間の大項目22項目における全体的評価を行うとともに、平成23年度調査における学生の到達度の自己評価と臨地実習での経験との関連について分析した。対象者は編入生を除く看護学科4年次生とし、全臨地実習終了後に調査を行った。結果、看護技術到達度の平均値は【活動・休息援助技術】(88.1%)が最も高く、【呼吸・循環を整える技術】(31.4%)が最も低かった。また、臨地実習の経験が少ない項目の到達度が低い傾向にあった。本結果より【呼吸・循環を整える技術】等に関する本学科の教育の現状把握による課題の明確化と、実習環境の調整、シミュレータ等の活用方法の検討の必要性が示唆された

Complex Loci in Human and Mouse Genomes

Mammalian genomes harbor a larger than expected number of complex loci, in which multiple genes are coupled by shared transcribed regions in antisense orientation and/or by bidirectional core promoters. To determine the incidence, functional significance, and evolutionary context of mammalian complex loci, we identified and characterized 5,248 cis–antisense pairs, 1,638 bidirectional promoters, and 1,153 chains of multiple cis–antisense and/or bidirectionally promoted pairs from 36,606 mouse transcriptional units (TUs), along with 6,141 cis–antisense pairs, 2,113 bidirectional promoters, and 1,480 chains from 42,887 human TUs. In both human and mouse, 25% of TUs resided in cis–antisense pairs, only 17% of which were conserved between the two organisms, indicating frequent species specificity of antisense gene arrangements. A sampling approach indicated that over 40% of all TUs might actually be in cis–antisense pairs, and that only a minority of these arrangements are likely to be conserved between human and mouse. Bidirectional promoters were characterized by variable transcriptional start sites and an identifiable midpoint at which overall sequence composition changed strand and the direction of transcriptional initiation switched. In microarray data covering a wide range of mouse tissues, genes in cis–antisense and bidirectionally promoted arrangement showed a higher probability of being coordinately expressed than random pairs of genes. In a case study on homeotic loci, we observed extensive transcription of nonconserved sequences on the noncoding strand, implying that the presence rather than the sequence of these transcripts is of functional importance. Complex loci are ubiquitous, host numerous nonconserved gene structures and lineage-specific exonification events, and may have a cis-regulatory impact on the member genes

Gene Organization in Rice Revealed by Full-Length cDNA Mapping and Gene Expression Analysis through Microarray

Rice (Oryza sativa L.) is a model organism for the functional genomics of monocotyledonous plants since the genome size is considerably smaller than those of other monocotyledonous plants. Although highly accurate genome sequences of indica and japonica rice are available, additional resources such as full-length complementary DNA (FL-cDNA) sequences are also indispensable for comprehensive analyses of gene structure and function. We cross-referenced 28.5K individual loci in the rice genome defined by mapping of 578K FL-cDNA clones with the 56K loci predicted in the TIGR genome assembly. Based on the annotation status and the presence of corresponding cDNA clones, genes were classified into 23K annotated expressed (AE) genes, 33K annotated non-expressed (ANE) genes, and 5.5K non-annotated expressed (NAE) genes. We developed a 60mer oligo-array for analysis of gene expression from each locus. Analysis of gene structures and expression levels revealed that the general features of gene structure and expression of NAE and ANE genes were considerably different from those of AE genes. The results also suggested that the cloning efficiency of rice FL-cDNA is associated with the transcription activity of the corresponding genetic locus, although other factors may also have an effect. Comparison of the coverage of FL-cDNA among gene families suggested that FL-cDNA from genes encoding rice- or eukaryote-specific domains, and those involved in regulatory functions were difficult to produce in bacterial cells. Collectively, these results indicate that rice genes can be divided into distinct groups based on transcription activity and gene structure, and that the coverage bias of FL-cDNA clones exists due to the incompatibility of certain eukaryotic genes in bacteria

The Constrained Maximal Expression Level Owing to Haploidy Shapes Gene Content on the Mammalian X Chromosome.

X chromosomes are unusual in many regards, not least of which is their nonrandom gene content. The causes of this bias are commonly discussed in the context of sexual antagonism and the avoidance of activity in the male germline. Here, we examine the notion that, at least in some taxa, functionally biased gene content may more profoundly be shaped by limits imposed on gene expression owing to haploid expression of the X chromosome. Notably, if the X, as in primates, is transcribed at rates comparable to the ancestral rate (per promoter) prior to the X chromosome formation, then the X is not a tolerable environment for genes with very high maximal net levels of expression, owing to transcriptional traffic jams. We test this hypothesis using The Encyclopedia of DNA Elements (ENCODE) and data from the Functional Annotation of the Mammalian Genome (FANTOM5) project. As predicted, the maximal expression of human X-linked genes is much lower than that of genes on autosomes: on average, maximal expression is three times lower on the X chromosome than on autosomes. Similarly, autosome-to-X retroposition events are associated with lower maximal expression of retrogenes on the X than seen for X-to-autosome retrogenes on autosomes. Also as expected, X-linked genes have a lesser degree of increase in gene expression than autosomal ones (compared to the human/Chimpanzee common ancestor) if highly expressed, but not if lowly expressed. The traffic jam model also explains the known lower breadth of expression for genes on the X (and the Z of birds), as genes with broad expression are, on average, those with high maximal expression. As then further predicted, highly expressed tissue-specific genes are also rare on the X and broadly expressed genes on the X tend to be lowly expressed, both indicating that the trend is shaped by the maximal expression level not the breadth of expression per se. Importantly, a limit to the maximal expression level explains biased tissue of expression profiles of X-linked genes. Tissues whose tissue-specific genes are very highly expressed (e.g., secretory tissues, tissues abundant in structural proteins) are also tissues in which gene expression is relatively rare on the X chromosome. These trends cannot be fully accounted for in terms of alternative models of biased expression. In conclusion, the notion that it is hard for genes on the Therian X to be highly expressed, owing to transcriptional traffic jams, provides a simple yet robustly supported rationale of many peculiar features of X's gene content, gene expression, and evolution