A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy

BACKGROUND: Deficiency of 4-aminobutyrate aminotransferase (GABA-T) is a rare disorder of GABA catabolism, with only a single sibship reported. We report on a third case, a Japanese female infant with severe psychomotor retardation and recurrent episodic lethargy with intractable seizures, with the diagnosis facilitated by proton magnetic resonance (MR) spectroscopy ((1)H-MRS). METHODS: Neuroimaging was performed at the first episode of lethargy. For (1)H-MRS, locations were placed in the semioval center and the basal ganglia. Quantification of metabolite concentrations were derived using the LCModel. We confirmed the diagnosis subsequently by enzyme and molecular studies, which involved direct DNA sequence analysis and the development of a novel multiplex ligation-dependent probe amplification test. RESULTS: (1)H-MRS analysis revealed an elevated GABA concentration in the basal ganglia (2.9 mmol/l). Based on the results of quantitative (1)H-MRS and clinical findings, GABA-T deficiency was suspected and confirmed in cultured lymphoblasts. Molecular studies of the GABA-T gene revealed compound heterozygosity for a deletion of one exon and a missense mutation, 275G>A, which was not detected in 210 control chromosomes. CONCLUSIONS: Our results suggest that excessive prenatal GABA exposure in the central nervous system (CNS) was responsible for the clinical manifestations of GABA transaminase deficiency. Our findings suggest the dual nature of GABA as an excitatory molecule early in life, followed by a functional switch to an inhibitory species later in development. Furthermore, quantitative (1)H-MRS appears to be a useful, noninvasive tool for detecting inborn errors of GABA metabolism in the CNS

アバカ MUSA TEXTILIS NEE ニ ハッセイスル バナナバンチートップウイルス ト キュウリモザイクウイルス ノ ブンシセイブツガクテキセイジョウ ノ カイメイ

繊維用作物であるアバカ(Musa textilis Nee)は,フィリピンの主要工芸作物の1つである。フィリピンのルソン島とネグロス島のアバカとバナナについて,バナナバンチートップウイルス(Banana bunchy top virus ; BBTV),キュウリモザイクウイルス(Cucumber mosaic virus ; CMV),およびBanana bract mosaic virus(BBrMV)の発生状況を調査した。収集したアバカ37株中34株からはBBrMVが,12株からはBBTVが,6株からはCMVが検出された。また,収集したバナナ25株中19株からはBBTVが,14株からはBBrMVが,3株からはCMVが検出された。このことから,本研究で調査した地域のアバカではBBrMVが,バナナではBBTVとBBrMVが主要なウイルスであることが明らかになった。また,バンチートップ病のアブラムシ伝搬試験を行い,本病に対して抵抗性を有するアバカの品種を示した。アバカバンチートップ病の病原と推定されるウイルスについて,塩基配列を一部決定し,複製開始タンパク質遺伝子,外被タンパク質遺伝子,移行タンパク質遺伝子を既報のウイルスと比較した。アバカから分離されたウイルスは,バナナから分離されたBBTVと各遺伝子のアミノ酸配列で99%以上の高い相同性を示したことから,アバカでもバナナと同様にBBTVが発生していることが,分子生物学的に初めて証明された。また,アバカにおけるCMVの発生をELISA法とRT-PCR法によって初めて確認し,外被タンパク質遺伝子の解析から,CMVサブグループIBに分類されることを示した。Abaca (Musa textilis Nee), a fiber crop, is considered one of principal industrial-crops in the Philippines. This study was conducted to clarify the occurrence and the molecular characterization of Banana bunchy top virus (BBTV), Cucumber mosaic virus (CMV), and Banana bract mosaic virus (BBrMV) in abaca and banana plants collected in Luzon and Negros islands, the Philippines. In abaca, we detected BBrMV from 34, BBTV from 12, and CMV from 6 out of 37 samples. In banana, we confirmed BBTV from 19, BBrMV from 14, and CMV from 3 out of 25 samples. These results revealed that BBrMV for abaca, BBTV and BBrMV for banana were major viruses in the studied area, although abaca bunchy top was recognized as the most serious disease economically. Several abaca varieties were evaluated for their resistance against bunchy top disease and found some hybrids to show resistant reaction. The putative causal virus of abaca bunchy top disease was partially sequenced, and the 3 genes of the replication initiation protein, the coat protein, and the movement protein were compared with those of related viruses previously reported. As the virus isolated from abaca plants showed more than 99% of homologies with BBTVs isolated from banana plants by comparison of the putative amino acid sequences of the each genes, both isolates were shown as identical in molecular characterization. Moreover, this study showed the first detection of CMV from abaca by ELISA and RT-PCR. Based on the sequence analysis of the coat protein gene, one abaca isolate of CMV was classified as subgroup IB

インドネシア ニ オケル バナナ ガイライシュ カラ ノ ウイルス ケンシュツ オヨビ バナナ バンチートップ ウイルス ノ ブンシ セイブツガク テキ ショ カイセキ

バナナ(Musa spp)にとって,ウイルスの存在は,生産の場だけではなく,遺伝資源としての種や品種の保存においても重大な脅威である。本研究では,インドネシアのジョグジャカルタ特別州に位置するバナナ品種保存園において,38品種68株のバナナを3年間に渡って採集し,血清学的・分子生物学的手法の両方または一方を用いて,ウイルスの検出を行った。その結果,キュウリモザイクウイルス(CMV)は3株のみで感染が確認されたのに対し,バナナバンチートップウイルス(BBTV)は21株で認められたことから,本来はウイルスフリーであるべき本品種保存園においてもBBTVは蔓延していることが示された。また,調査を行った38品種は長期間同じ環境条件下で栽培されていたが,BBTVは12品種で,CMVは3品種でそれぞれ病徴を伴って感染が確認された。このことから,これらの12品種と3品種はそれぞれBBTVとCMVに対して,より感受性であると思われた。バナナ品種保存園に発生したBBTV2分離株(BBTV-IG33, -IG64)とその近郊の農村に発生したBBTV1分離株(BBTV-IJs11)についてDNA-1とDNA-3の塩基配列を決定した結果,それぞれのコンポーネントの全長で3分離株は高い相同性を有していた(98～99%,99～100%)。また,DNA-1のCR-M領域(major common region)では,既報のオーストラリアおよびフィジーの分離株よりも,日本・台湾・フィリピン・中国・ベトナムの分離株と,より高い値を示した(63～65%,93～95%)。したがって,インドネシアにおけるBBTVアジアグループ(KARANら,1994)の発生とそれらの分子生物学的性状が本研究によって初めて明確に示された。For banana plants (Musa spp.), occurrence of viruses is serious threat not only for production but also in conservation of banana species/cultivars as genetic resources. In this study, we collected 68samples of 38banana cultivars during 3years of survey and carried out the detection of viruses by serological and/or molecular methods in a banana germplasm garden of central Java, Indonesia. Banana bunchy top virus (BBTV) and Cucumber mosaic virus (CMV) were confirmed from 21samples and 3samples, respectively, though Banana bract mosaic virus (BBrMV) was not detected in this survey. Thus it was made clear that the major constraint virus is BBTV in this germplasm garden where it should be free from any virus infection. The occurrences of BBTV were confirmed in 12cultivars and of CMV were confirmed in 3cultivars among 38cultivars along with viral symptoms though all of tested cultivars were grown under the same condition for long time. Based upon this results, it was supposed that these 12 and 3cultivars are more sensitive to BBTV and CMV infection, respectively. Two BBTV isolates (BBTV-IG33 and IG64) in this germplasm garden and one isolate of BBTV (BBTV-IJs11) from a village nearby the germplasm garden were sequenced for their DNA-1 and DNA-3 and shown to have high homologies among them in full-length of each component (98 to 99% and 99 to 100%, respectively). In major common region (CR-M) of DNA-1, the Indonesian isolates showed higher homology obviously with isolates from Japan, Taiwan, the Philippines, China and Vietnam than with isolates from Australia and Fiji (93 to 95% and 63 to 65%, respectively). Therefore, molecular characters of these Indonesian BBTV isolates, which were classified into the Asian group (KARAN et al., 1994), were firstly reported and analyzed in this study

Factors of choking under pressure in musicians.

Under pressure, motor actions, such as those required in public speech, surgery, or musical performance, can be compromised, even when these have been well-trained. The latter is often referred to as 'choking' under pressure. Although multifaceted problems mediate such performance failure in anxiogenic situations, such as compromised motor dexterity and cognitive disruption, the fundamental set of abnormalities characterizing choking under pressure and how these abnormalities are related have not been elucidated. Here, we attempted, first, to classify behavioural, psychological, and physiological abnormalities associated with choking under pressure in musicians and, second, to identify their relationship based on datasets derived from a questionnaire with 258 pianist respondents. Explorative factor analysis demonstrated eight functional abnormalities related to the musicians' choking, such as attention to the audience, erroneous motor actions, perceptual confusion, and failure of memory recall, which however did not include exaggerated attention to the performance. This suggests distraction of attention away from skill execution, which may underlie the spoiled performance under pressure. A structural equation analysis further inferred causal relationships among them. For instance, while failure of memory recall was influenced by passive behaviours manifesting under pressure, erroneous motor actions during performance were influenced by feeling rushed and a loss of body control. In addition, some specific personal traits, such as neuroticism, public self-consciousness, and a lack of confidence, were associated with the extent to which pressure brought about these abnormalities. These findings suggest that distinct psycho-behavioural abnormalities and personal traits underlie the detrimental effects of pressure on musical performance

Triple bottom line assessment of sustainability art contest

The new Student Union Building (SUB) at the University of British Columbia (UBC) is seeking to decorate its atrium with sustainable art pieces. The piece is intended to raise sustainability awareness among UBC students. Original plan to obtain such art piece was by commissioning a professional artist. This paper challenges this plan. In this paper a triple bottom-line analysis is conducted on the process of obtaining these art pieces by administering a student art contest. In the social aspect of the analysis it is clear that the art contest possesses many benefits over the traditional means; creation of jobs, engagement of students, as well as having the side benefit of promoting the art department at UBC. The waste disposal hierchy which includes: reduce, reuse and recycle are assessed for the commonly thrown away sustainable garbage chosen from the survey and observations of garbage bins in UBC campus. From this analysis, any recyclable material should be promoted to be recycled and reduce wastes which are difficult to recycle, such as plastics and electronic wastes. The last aspect of the analysis is Economic. In this section we gather cost estimates of commissioning a professional artist to create the artwork and compare this to estimates of the costs of the art contest. In the case of the art contest we are able to recover most (if not all) of the money spent. From the triple bottom-line analysis of administering a student art contest as a means to obtaining sustainable art pieces for the atrium of the SUB we see that this method not only costs less, but it also does more to raise awareness as it allows students to participate and be active in the process as opposed to being passive. Therefore we recommend going the route of a student art contest in place of commissioning a professional artist. Disclaimer: “UBC SEEDS provides students with the opportunity to share the findings of their studies, as well as their opinions, conclusions and recommendations with the UBC community. The reader should bear in mind that this is a student project/report and is not an official document of UBC. Furthermore readers should bear in mind that these reports may not reflect the current status of activities at UBC. We urge you to contact the research persons mentioned in a report or the SEEDS Coordinator about the current status of the subject matter of a project/report.”Applied Science, Faculty ofUnreviewedUndergraduat

Visualization of collateral channels with coronary computed tomography angiography for the retrograde approach in percutaneous coronary intervention for chronic total occlusion

[Background] There have been no reports about the diagnostic ability of coronary computed tomography angiography (CTA) in evaluating collateral channels used for retrograde chronic total occlusion (CTO) percutaneous coronary intervention (PCI). [Objective] We investigated the ability and diagnostic accuracy of coronary CTA compared with invasive coronary angiography to detect collaterals used in retrograde CTO PCI and to compared the success rates for wire crossing between collaterals that are detectable and not detectable in coronary CTA. [Methods] We retrospectively reviewed data from 43 patients (55 collaterals) who underwent coronary CTA and PCI for CTO with the retrograde approach. We compared the ability of coronary CTA to visualize collaterals to invasive coronary angiography and evaluated the rates of successful wire crossing between CTA-visible and invisible collaterals. [Results] The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of coronary CTA for detecting collaterals which were used for the retrograde approach was 100.0%, 50.0%, 65.9%, 100.0%, and 74.5%, respectively. Guidewire collateral crossing was more successful in CT-visible collaterals than those not detectable in CT (74.1% vs. 46.4%, p = 0.034). There were fewer collateral vessel injuries in CTA-visible collaterals (11.1% vs. 32.1%, p = 0.041). [Conclusion] Coronary CTA provides good visualization of collaterals used in retrograde CTO PCI. For retrograde guidewire crossing, a higher success rate with fewer complications was observed in CTA-visible collaterals than in those not detectable in coronary CTA