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Anesthetic Management of Transcatheter Aortic Valve Replacement under Extracorporeal Membrane Oxygenation in a Patient with Acute Decompensated Heart Failure: A Case Report. 体外膜氧合下经导管主动脉瓣置换术治疗急性失代偿性心力衰竭1例。
Q3 Medicine Pub Date : 2019-11-14
Takuya Okada, Takuya Yoshida, Shohei Makino, Norihiko Obata, Satoshi Mizobuchi

We managed general anesthesia for transcatheter aortic valve replacement (TAVR) under elective extracorporeal membrane oxygenation (ECMO) in a patient with aortic valve stenosis (AS) complicated with acute decompensated heart failure. The patient was an 87-year-old woman with acute heart failure due to severe AS who had been hospitalized. However, her low cardiac output did not improve, and weaned her off catecholamines was difficult, so semi-urgent TAVR was performed. Due to her acute decompensated heart failure complicated by low-left ventricular function, we decided electively to use ECMO for transfemoral TAVR to prevent hemodynamic collapse during induction of anesthesia and surgery, enabling the safe perioperative management of this patient under general anesthesia.

我们对一例主动脉瓣狭窄(AS)合并急性失代偿性心力衰竭的患者进行了选择性体外膜氧合(ECMO)下经导管主动脉瓣置换术(TAVR)的全麻治疗。患者是一名87岁的女性,因严重AS引起的急性心力衰竭而住院。然而,她的低心排血量并没有改善,并且很难戒掉儿茶酚胺,因此进行了半紧急TAVR。由于患者急性失代偿性心力衰竭合并低左心室功能,我们决定选择性采用ECMO进行经股TAVR,以防止麻醉和手术诱导时血流动力学塌陷,使该患者在全身麻醉下的围手术期管理安全。
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引用次数: 0
Newborn Screening for Spinal Muscular Atrophy: DNA Preparation from Dried Blood Spot and DNA Polymerase Selection in PCR. 新生儿脊髓性肌萎缩症筛查:干血斑DNA制备及PCR中DNA聚合酶的选择。
Q3 Medicine Pub Date : 2019-11-14
Atsuko Takeuchi, Chisato Tode, Masayoshi Nishino, Yogik Onky Silvana Wijaya, Emma Tabe Eko Niba, Hiroyuki Awano, Yasuhiro Takeshima, Toshio Saito, Kayoko Saito, Poh San Lai, Yoshihiro Bouike, Hisahide Nishio, Masakazu Shinohara

Background: Polymerase chain reaction (PCR) analysis using DNA from dried blood spot (DBS) samples on filter paper is a critical technique for spinal muscular atrophy (SMA) newborn screening. However, DNA extraction from DBS is time-consuming, and elimination of PCR inhibitors from DBS is almost impossible.

Methods: Exon 7 of the two homologous SMA-related genes, survival motor neuron (SMN) 1 and SMN2, of five SMA patients and five controls were amplified by PCR with a punched-out circle of the DBS paper. Two types of DNA preparation methods were tested; DNA-extraction (extracted DNA was added in a PCR tube) and non-DNA-extraction (a punched-out DBS circle was placed in a PCR tube). As for the DNA polymerases, two different enzymes were compared; TaKaRa Ex Taq™ and KOD FX Neo™. To test the diagnostic quality of PCR products, RFLP (Restriction fragment length polymorphism) analysis with DraI digestion was performed, differentiating SMN1 and SMN2.

Results: In PCR using extracted DNA, sufficient amplification was achieved with TaKaRa Ex Taq™ and KOD FX Neo™, and there was no significant difference in amplification efficiency between them. In direct PCR with a punched-out DBS circle, sufficient amplification was achieved when KOD FX Neo™ polymerase was used, while there was no amplification with TaKaRa Ex Taq™. RFLP analysis of the direct PCR products with KOD FX Neo™ clearly separated SMN1 and SMN2 sequences and proved the presence of both of SMN1 and SMN2 in controls, and only SMN2 in SMA patients, suggesting that the direct PCR products with KOD FX Neo™ were of sufficient diagnostic quality for SMA testing.

Conclusion: Direct PCR with DNA polymerases like KOD FX NeoTM has potential to be widely used in SMA newborn screening in the near future as it obviates the DNA extraction process from DBS and can precisely amplify the target sequences in spite of the presence of PCR inhibitors.

背景:利用滤纸上的干血斑(DBS)样本DNA进行聚合酶链反应(PCR)分析是脊髓性肌萎缩症(SMA)新生儿筛查的一项关键技术。然而,从DBS中提取DNA非常耗时,而且从DBS中去除PCR抑制剂几乎是不可能的。方法:用DBS纸打孔圈PCR扩增5例SMA患者和5例对照的2个同源SMA相关基因SMN - 1和SMN2的外显子7。测试了两种DNA制备方法;DNA提取(将提取的DNA加入PCR管中)和非DNA提取(将打好的DBS环放入PCR管中)。在DNA聚合酶方面,比较了两种不同的酶;TaKaRa Ex Taq™和KOD FX Neo™。为检验PCR产物的诊断质量,采用DraI酶切法进行限制性内切片段长度多态性(RFLP)分析,区分SMN1和SMN2。结果:对提取的DNA进行PCR, TaKaRa Ex Taq™和KOD FX Neo™均能充分扩增,扩增效率无显著差异。在直接PCR中,使用KOD FX Neo™聚合酶可以获得充分的扩增,而使用TaKaRa Ex Taq™则没有扩增。KOD FX Neo™直接PCR产物的RFLP分析清楚地分离了SMN1和SMN2序列,并证明对照组中同时存在SMN1和SMN2,而SMA患者中仅存在SMN2,这表明KOD FX Neo™直接PCR产物具有足够的SMA诊断质量。结论:采用KOD FX NeoTM等DNA聚合酶进行直接PCR,避免了DBS DNA的提取过程,且在存在PCR抑制剂的情况下仍能精确扩增目标序列,具有在不久的将来广泛应用于SMA新生儿筛查的潜力。
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引用次数: 0
Antiviral Activity of Cananga odorata Against Hepatitis B Virus. 加南加对乙型肝炎病毒的抗病毒作用。
Q3 Medicine Pub Date : 2019-11-12
Puguh Indrasetiawan, Chie Aoki-Utsubo, Muhammad Hanafi, Sri Hartati, Tutik Sri Wahyuni, Masanori Kameoka, Yoshihiko Yano, Hak Hotta, Yoshitake Hayashi

Chronic hepatitis B virus (HBV) infection can lead to liver cirrhosis and hepatocellular carcinoma. Current therapeutic drugs for chronic hepatitis B using pegylated interferons and nucleos(t)ide analogs have limited efficacy. Therefore, the development of novel and safe antivirals is required. Natural products including medicinal plants produce complex and structurally diverse compounds, some of which offer suitable targets for antiviral screening studies. In the present study, we screened various crude extracts from Indonesian plants for anti-HBV activity by determining their effects on the production of extracellular HBV DNA in Hep38.7-Tet cells and HBV entry onto a HBV-susceptible cell line, HepG2-NTCP, with the following results: (1) In Hep38.7-Tet cells, Cananga odorata exhibited the highest anti-HBV activity with a 50% inhibitory concentration (IC50) of 56.5 µg/ml and 50% cytotoxic concentration (CC50) of 540.2 µg/ml (Selectivity Index: 9.6). (2) The treatment of HepG2-NTCP cells with Cassia fistula, C. odorata, and Melastoma malabathricum at concentrations of 100 µg/ml lowered the levels of HBsAg production to 51.2%, 58.0%, and 40.1%, respectively, compared to untreated controls, and IC50 and CC50 values of C. odorata were 142.9 µg/ml and >400 µg/ml. In conclusion, the C. odorata extract could be a good candidate for the development of anti-HBV drugs.

慢性乙肝病毒(HBV)感染可导致肝硬化和肝细胞癌。目前使用聚乙二醇化干扰素和核苷类似物治疗慢性乙型肝炎的药物疗效有限。因此,需要开发新型安全的抗病毒药物。包括药用植物在内的天然产物产生复杂且结构多样的化合物,其中一些化合物为抗病毒筛选研究提供了合适的靶点。在本研究中,我们筛选了印度尼西亚植物的各种粗提取物,通过测定它们对Hep38.7-Tet细胞细胞外HBV DNA的产生和HBV进入HBV易感细胞系HepG2-NTCP的影响,得出以下结果:(1)在Hep38.7-Tet细胞中,Cananga odorata表现出最高的抗HBV活性,50%抑制浓度(IC50)为56.5µg/ml, 50%细胞毒性浓度(CC50)为540.2µg/ml(选择性指数:9.6)。(2)以100µg/ml浓度处理果香瘘管、C. odorata和malabathicum后,HepG2-NTCP细胞HBsAg生成水平分别比未处理的对照组降低51.2%、58.0%和40.1%,C. odorata的IC50和CC50值分别为142.9µg/ml和>400µg/ml。综上所述,香桐提取物具有开发抗hbv药物的潜力。
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引用次数: 0
Lifestyle of Patients with Alcoholic Liver Disease and Factors Leading to Hospital Readmission: A Prospective Observational Study. 酒精性肝病患者的生活方式及导致再入院的因素:一项前瞻性观察研究
Q3 Medicine Pub Date : 2019-11-12
Sung-Mi Park, Nao Saito, Soo Ryang Kim, Ikuko Miyawaki

The objective of this study was to clarify the lifestyle characteristics of patients with alcoholic liver disease (ALD) who were readmitted to the hospital, and to identify the background factors associated with these characteristics. This was a prospective observational study. Over a period of 3 months following hospital discharge, we conducted structured interviews to investigate the following five lifestyle characteristics based on our previous research: dietary intake, alcohol consumption or abstinence, psycho-emotional status, regularity of life habits, adherence to treatment. We also collected data on background factors from medical records and questionnaires. The analysis was performed using conceptual cluster matrices, with participants divided into two groups (at-home recovery and readmission). Lifestyle, health status, and background factors were compared between the two groups. Of the 34 patients with ALD recruited, 21 completed the one-month follow-up and were included in the analysis-14 patients were in the at-home recovery group and 7 in the readmission group. The at-home group's lifestyle was characterized by controlled alcohol consumption, but with maintenance of regular life and eating habits and adherence to treatment. In contrast, irregular eating habits (p=0.006) and the development of irregular life habits or the discontinuation of treatment very quickly after hospital discharge characterized the readmission group's lifestyle. Experiences of loss were a lifestyle-related background factor that was associated with readmission (p=0.017). Based on these findings, supporting patients with ALD in maintaining regular eating habits and taking experiences of loss into consideration would be important in avoiding readmission over the short-term.

本研究的目的是澄清再次入院的酒精性肝病(ALD)患者的生活方式特征,并确定与这些特征相关的背景因素。这是一项前瞻性观察性研究。在出院后的3个月里,我们进行了结构化访谈,根据我们之前的研究调查以下五个生活方式特征:饮食摄入、饮酒或戒酒、心理-情绪状态、生活习惯的规律性、对治疗的依从性。我们还从病历和问卷中收集了背景因素的数据。使用概念聚类矩阵进行分析,参与者分为两组(在家康复和再入院)。比较两组患者的生活方式、健康状况和背景因素。在招募的34例ALD患者中,21例完成了为期一个月的随访并纳入分析,其中14例患者在家中康复组,7例患者在再入院组。居家组的生活方式特点是控制饮酒,但保持正常的生活和饮食习惯,并坚持治疗。相反,不规律的饮食习惯(p=0.006)和不规律的生活习惯的发展或出院后很快停止治疗是再入院组的生活方式特征。丧失经历是与再入院相关的生活方式相关背景因素(p=0.017)。基于这些发现,支持ALD患者保持有规律的饮食习惯并考虑到损失的经历对于避免短期内再入院很重要。
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引用次数: 0
Study on the Language Formation Process of Very-Low-Birth-Weight Infants in Infancy Using a Formant Analysis. 利用心形分析法研究极低出生体重婴儿的语言形成过程
Q3 Medicine Pub Date : 2019-11-08
Hidetaka Maebayashi, Tetsuya Takiguchi, Satoshi Takada

Expressive language development depends on anatomical factors, such as motor control of the tongue and oral cavity needed for vocalization, as well as cognitive aspects for comprehension and speech. The purpose of this study was to examine the differences in expressive language development between normal-birth-weight (NBW) infants and very-low-birth-weight (VLBW) infants in infancy using a formant analysis. We also examined the presence of differences between infants with a normal development and those with a high risk of autism spectrum disorder who were expected to exist among VLBW infants. The participants were 10 NBW infants and 10 VLBW infants 12-15 months of age whose speech had been recorded at intervals of approximately once every 3 months. The recorded speech signal was analyzed using a formant analysis, and changes due to age were observed. One NBW and 3 VLBW infants failed to pass the screening tests (CBCL and M-CHAT) at 24 months of age. The formant frequencies (F1 and F2) of the three groups of infants (NBW, VLBW and CBCL·M-CHAT non-passing infants) were scatter-plotted by age. For the NBW and VLBW infants, the area of the plot increased with age, but there was no significant expansion of the plot area for the CBCL·M-CHAT non-passing infants. The results showed no significant differences in expressive language development between NBW infants at 24 months old and VLBW infants at the corrected age. However, different language developmental patterns were observed in CBCL·M-CHAT non-passing infants, regardless of birth weight, suggesting the importance of screening by acoustic analyses.

语言表达能力的发展取决于解剖学因素,如发声所需的舌头和口腔的运动控制,以及理解和说话的认知方面。本研究的目的是利用声调分析法,研究正常出生体重(NBW)婴儿和极低出生体重(VLBW)婴儿在婴儿期语言表达能力发展方面的差异。我们还研究了发育正常婴儿与自闭症谱系障碍高风险婴儿之间是否存在差异,预计自闭症谱系障碍高风险婴儿也可能存在于 VLBW 婴儿中。研究对象为 10 名 12-15 个月大的非畸形婴儿和 10 名超低体重婴儿,他们每隔大约 3 个月就会被录制一次语音。记录的语音信号通过声像分析法进行分析,并观察因年龄而产生的变化。在 24 个月大时,1 名非黑白婴儿和 3 名超低体重婴儿未能通过筛查测试(CBCL 和 M-CHAT)。三组婴儿(NBW、VLBW 和未通过 CBCL-M-CHAT 测试的婴儿)的声母频率(F1 和 F2)按年龄进行了散点图分析。对于 NBW 和 VLBW 婴儿,散点图的面积随着年龄的增长而增加,但对于 CBCL-M-CHAT 未通过的婴儿,散点图的面积没有明显扩大。结果显示,24 个月大的 NBW 婴儿与校正年龄的 VLBW 婴儿在语言表达能力发展方面没有明显差异。然而,无论出生体重如何,在 CBCL-M-CHAT 未通过的婴儿中观察到了不同的语言发展模式,这表明了通过声学分析进行筛查的重要性。
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引用次数: 0
Spinal Muscular Atrophy: Advanced Version of Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion. 脊髓性肌萎缩症:SMN1缺失的实时mcp - pcr和PCR-RFLP筛选系统的高级版本。
Q3 Medicine Pub Date : 2019-07-16
Emma Tabe Eko Niba, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Yasuhiro Takeshima, Toshio Saito, Kayoko Saito, Atsuko Takeuchi, Poh San Lai, Yoshihiro Bouike, Masafumi Matsuo, Hisahide Nishio, Masakazu Shinohara

Background: Spinal Muscular Atrophy (SMA) is a common autosomal recessive neuromuscular disease characterized by defects of lower motor neurons. More than 95% of SMA patients show homozygous deletion for the survival motor neuron 1 (SMN1) gene. For the screening of SMN1 deletion using dried blood spot (DBS), we developed a new combined system with real-time "modified competitive oligonucleotide priming"-polymerase chain reaction (mCOP-PCR) and PCR restriction fragment length polymorphism (PCR-RFLP). Although our real-time mCOP-PCR method is secured enough to be gene-specific, its amplification efficiency is not as good because the reverse primers carry a nucleotide mismatched with the sequence of the pre-amplified product. The mismatch has consequently been generated in the process of introducing a restriction enzyme site in the pre-amplified products for PCR-RFLP.

Method: DBS samples of the subjects were stored at room temperature for a period of less than one year. Each subject had already been genotyped by the first PCR-RFLP using fresh blood DNA. SMN1/SMN2 exon 7 was collectively amplified using conventional PCR (targeted pre-amplification). Pre-amplified products were used as template in the real-time mCOP-PCR, and, on the other hand, were digested with DraI enzyme (PCR-RFLP). To improve the amplification efficiency of mCOP-PCR, one nucleotide change was introduced in the original reverse primers (SMN1-COP and SMN2-COP) to eliminate the mismatched nucleotide.

Results: The real-time mCOP-PCR with a new primer (SMN1-COP-DRA or SMN2-COP-DRA) more rapidly and specifically amplified SMN1 and SMN2, and clearly demonstrated SMN1 deletion in an SMA patient. With the new primers, the amplification efficiencies of real-time mCOP-PCR were improved and the Cq values of SMN1 (+) and SMN2 (+) samples were significantly lowered.

Conclusion: In the advanced version of our screening system for homozygous SMN1 deletion using DBS, the real-time mCOP-PCR with newly-designed reverse primers demonstrated the presence or absence of SMN1 and SMN2 within a shorter time, and the results were easily tested by PCR-RFLP. This rapid and accurate screening system will be useful for detection of newborn infants with SMA.

背景:脊髓性肌萎缩症(SMA)是一种常见的常染色体隐性神经肌肉疾病,以下运动神经元缺陷为特征。超过95%的SMA患者表现出存活运动神经元1 (SMN1)基因的纯合缺失。为了利用干血点(DBS)筛选SMN1缺失,我们开发了一种新的实时“修饰竞争性寡核苷酸引物”-聚合酶链反应(mcp -PCR)和PCR限制性片段长度多态性(PCR- rflp)联合系统。虽然我们的实时mcp - pcr方法足够安全,可以实现基因特异性,但其扩增效率并不高,因为反向引物携带与预扩增产物序列不匹配的核苷酸。因此,在PCR-RFLP的预扩增产物中引入限制性内切酶位点的过程中产生了错配。方法:受试者脑起搏器标本常温保存1年以内。每个受试者已经用新鲜血液DNA通过第一次PCR-RFLP进行了基因分型。SMN1/SMN2外显子7采用常规PCR(靶向预扩增)进行集体扩增。用预扩增产物作为模板进行实时mcp - pcr,另一方面用DraI酶(PCR-RFLP)酶切。为了提高mcp - pcr的扩增效率,在原反向引物(SMN1-COP和SMN2-COP)中引入了一个核苷酸变化来消除不匹配的核苷酸。结果:采用新的引物(SMN1- cop - dra或SMN2- cop - dra)的实时mcp - pcr更快速和特异性地扩增SMN1和SMN2,并清楚地表明SMN1在SMA患者中缺失。该引物提高了实时mcp - pcr的扩增效率,显著降低了SMN1(+)和SMN2(+)样品的Cq值。结论:在我们采用DBS技术的SMN1纯合子缺失筛选系统的高级版本中,使用新设计的反向引物的实时mcp - pcr在较短的时间内显示SMN1和SMN2的存在或不存在,并且结果易于用PCR-RFLP检测。这种快速准确的筛查系统将有助于新生儿SMA的检测。
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引用次数: 0
Spinal Muscular Atrophy: New Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion. 脊髓性肌萎缩:实时mcp - pcr和PCR-RFLP检测SMN1缺失的新筛选系统。
Q3 Medicine Pub Date : 2019-07-16
Emma Tabe Eko Niba, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Yasuhiro Takeshima, Toshio Saito, Kayoko Saito, Atsuko Takeuchi, Poh San Lai, Yoshihiro Bouike, Masafumi Matsuo, Hisahide Nishio, Masakazu Shinohara

Background: Spinal Muscular Atrophy (SMA) is a common autosomal recessive neuromuscular disorder characterized by degeneration or loss of lower motor neurons. More than 95% of SMA patients show homozygous deletion for the survival motor neuron 1 (SMN1) gene. For the screening of SMN1 deletion, it is necessary to differentiate SMN1 from its highly homologous gene, SMN2. We developed a modified competitive oligonucleotide priming-PCR (mCOP-PCR) method using dried blood spot (DBS)-DNA, in which SMN1 and SMN2-specific PCR products are detected with gel-electrophoresis. Next, we added a targeted pre-amplification step prior to the mCOP-PCR step, to avoid unexpected, non-specific amplification. The pre-amplification step enabled us to combine mCOP-PCR and real-time PCR. In this study, we combined real-time mCOP-PCR and PCR-restriction fragment length polymorphism (PCR-RFLP) to develop a new screening system for detection of SMN1 deletion.

Methods: DBS samples of the subjects were stored at room temperature for a period of less than one year. Each subject had already been genotyped by the first PCR-RFLP using fresh blood DNA. SMN1/SMN2 exon 7 was collectively amplified using conventional PCR (targeted pre-amplification), the products of which were then used as a template in the real-time PCR with mCOP-primer sets. To confirm the results, the pre-amplified products were subject to the second PCR-RFLP.

Results: The real-time mCOP-PCR separately amplified SMN1 and SMN2 exon7, and clearly demonstrated SMN1 deletion in an SMA patient. The results of the real-time mCOP-PCR using DBS-DNA were completely consistent with those of the first and second PCR-RFLP analysis.

Conclusion: In our new system for detection of SMN1 deletion, real-time mCOP-PCR rapidly proved the presence or absence of SMN1 and SMN2, and the results were easily tested by PCR-RFLP. This solid genotyping system will be useful for SMA screening.

背景:脊髓性肌萎缩症(SMA)是一种常见的常染色体隐性神经肌肉疾病,其特征是下运动神经元的退化或丧失。超过95%的SMA患者表现出存活运动神经元1 (SMN1)基因的纯合缺失。为了筛选SMN1缺失,有必要将SMN1与其高度同源的基因SMN2区分开来。我们建立了一种改良的竞争性寡核苷酸引物PCR (mcp -PCR)方法,使用干血斑(DBS)-DNA对SMN1和smn2特异性PCR产物进行凝胶电泳检测。接下来,我们在mcp - pcr步骤之前增加了一个目标预扩增步骤,以避免意外的非特异性扩增。扩增前步骤使我们能够将mcp -PCR和real-time PCR结合起来。在本研究中,我们将实时mcp - pcr和pcr -限制性片段长度多态性(PCR-RFLP)相结合,建立了一种检测SMN1缺失的新筛选系统。方法:受试者脑起搏器标本常温保存1年以内。每个受试者已经用新鲜血液DNA通过第一次PCR-RFLP进行了基因分型。SMN1/SMN2外显子7使用常规PCR(靶向预扩增)进行集体扩增,然后将其产物作为模板与mcp引物进行实时PCR。为了确认结果,将预扩增产物进行第二次PCR-RFLP分析。结果:实时mcp - pcr分别扩增SMN1和SMN2外显子7,清楚地显示SMA患者中SMN1缺失。DBS-DNA实时pcr结果与第一次和第二次PCR-RFLP分析结果完全一致。结论:在SMN1缺失检测系统中,实时mcp - pcr能快速证明SMN1和SMN2是否存在,且易于PCR-RFLP检测。这种固体基因分型系统将有助于SMA的筛选。
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引用次数: 0
Nested PCR Amplification Secures DNA Template Quality and Quantity in Real-time mCOP-PCR Screening for SMA. 巢式PCR扩增确保实时mcp -PCR筛选SMA的DNA模板质量和数量。
Q3 Medicine Pub Date : 2019-07-16
Yogik Onky Silvana Wijaya, Emma Tabe Eko Niba, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Hiroyuki Awano, Yasuhiro Takeshima, Toshio Saito, Kayoko Saito, Atsuko Takeuchi, Poh San Lai, Yoshihiro Bouike, Hisahide Nishio, Masakazu Shinohara

Background: Spinal Muscular Atrophy (SMA) is a common autosomal recessive disorder caused by SMN1 gene deletion. SMA has been considered an incurable disease. However, a newly-developed antisense oligonucleotide drug, nusinersen, brings about a good outcome to SMA patients in the clinical trials. Now, a screening for SMA is required for early diagnosis and early treatment so as to give a better clinical outcome to the patients. We have invented a new technology, mCOP-PCR, for SMA screening using dried blood spot (DBS) on the filter paper. One of the problems encountered in SMA screening is poor quality and quantity of DNA extracted from DBS.

Methods: DNA was extracted from DBS of six individuals. Fresh blood DNA of each individual had already been genotyped using PCR/RFLP. The fragments including the sequence of SMN1/SMN2 exon 7 were pre-amplified with conventional PCR. To determine which pre-amplified product is a better template for the real-time mCOP-PCR, we did pre-amplification with a single PCR or pre-amplification with a nested PCR.

Results: The real-time mCOP-PCR using pre-amplified products with a single PCR brought about ambiguous results in some SMN1-carrying individuals. However, the results of real-time mCOP-PCR following pre-amplification with a nested PCR were completely matched with those of PCR-RFLP.

Conclusion: In our study on the real-time mCOP-PCR screening system for SMA, a nested PCR secured the DNA template quality and quantity, leading to unambiguous results of SMA screening.

背景:脊髓性肌萎缩症(SMA)是一种常见的常染色体隐性遗传病,由SMN1基因缺失引起。SMA一直被认为是一种不治之症。然而,一种新开发的反义寡核苷酸药物nusinersen在临床试验中为SMA患者带来了良好的效果。目前,需要对SMA进行筛查,早期诊断,早期治疗,使患者获得更好的临床效果。我们发明了一种利用滤纸上的干血点(DBS)进行SMA筛选的新技术mcp - pcr。SMA筛查中遇到的问题之一是从DBS中提取的DNA质量和数量都很差。方法:提取6例DBS患者的DNA。每个个体的新鲜血液DNA已经用PCR/RFLP进行了基因分型。采用常规PCR方法对SMN1/SMN2外显子7序列进行预扩增。为了确定哪种预扩增产物是实时mcp -PCR更好的模板,我们进行了单PCR预扩增或嵌套PCR预扩增。结果:使用预扩增产物的实时mcp -PCR与单一PCR在一些携带smn1的个体中结果不明确。然而,巢式PCR预扩增后的实时mcp -PCR结果与PCR- rflp结果完全吻合。结论:在我们对SMA实时mcp -PCR筛选系统的研究中,嵌套PCR保证了DNA模板的质量和数量,导致SMA筛选结果明确。
{"title":"Nested PCR Amplification Secures DNA Template Quality and Quantity in Real-time mCOP-PCR Screening for SMA.","authors":"Yogik Onky Silvana Wijaya,&nbsp;Emma Tabe Eko Niba,&nbsp;Mawaddah Ar Rochmah,&nbsp;Nur Imma Fatimah Harahap,&nbsp;Hiroyuki Awano,&nbsp;Yasuhiro Takeshima,&nbsp;Toshio Saito,&nbsp;Kayoko Saito,&nbsp;Atsuko Takeuchi,&nbsp;Poh San Lai,&nbsp;Yoshihiro Bouike,&nbsp;Hisahide Nishio,&nbsp;Masakazu Shinohara","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Spinal Muscular Atrophy (SMA) is a common autosomal recessive disorder caused by SMN1 gene deletion. SMA has been considered an incurable disease. However, a newly-developed antisense oligonucleotide drug, nusinersen, brings about a good outcome to SMA patients in the clinical trials. Now, a screening for SMA is required for early diagnosis and early treatment so as to give a better clinical outcome to the patients. We have invented a new technology, mCOP-PCR, for SMA screening using dried blood spot (DBS) on the filter paper. One of the problems encountered in SMA screening is poor quality and quantity of DNA extracted from DBS.</p><p><strong>Methods: </strong>DNA was extracted from DBS of six individuals. Fresh blood DNA of each individual had already been genotyped using PCR/RFLP. The fragments including the sequence of SMN1/SMN2 exon 7 were pre-amplified with conventional PCR. To determine which pre-amplified product is a better template for the real-time mCOP-PCR, we did pre-amplification with a single PCR or pre-amplification with a nested PCR.</p><p><strong>Results: </strong>The real-time mCOP-PCR using pre-amplified products with a single PCR brought about ambiguous results in some SMN1-carrying individuals. However, the results of real-time mCOP-PCR following pre-amplification with a nested PCR were completely matched with those of PCR-RFLP.</p><p><strong>Conclusion: </strong>In our study on the real-time mCOP-PCR screening system for SMA, a nested PCR secured the DNA template quality and quantity, leading to unambiguous results of SMA screening.</p>","PeriodicalId":39560,"journal":{"name":"Kobe Journal of Medical Sciences","volume":"65 2","pages":"E54-E58"},"PeriodicalIF":0.0,"publicationDate":"2019-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012193/pdf/kobej-65-e54.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37557447","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Influence of Chronotype and Working Condition on Sleep Status and Health Related Quality of Life of Daytime Office Workers. 时间类型和工作状态对日间上班族睡眠状态和健康相关生活质量的影响。
Q3 Medicine Pub Date : 2019-03-05
Yuh Sasawaki, Hideyuki Shiotani

Several companies in Japan introduced early working conditions (including recommendations on early morning work and prohibitions on nighttime overtime work) to decrease the number of long working hours at night. Nevertheless, individuals possess their own chronotype, i.e., their behavioral timing preference-be it morning or evening-that is associated with worker health. The purpose of this study was to investigate the influence of chronotype and working conditions on sleep and health related quality of life (HRQOL) using 126 daytime office workers who were classified as morning or evening type by their Morningness-Eveningness Questionnaire scores. We then compared morning and evening type workers' sleep variables (sleep onset/offset time and total sleep time), sleep quality (using the Japanese version of the Pittsburgh Sleep Quality Index), and HRQOL scores. Additionally, we compared the same sleep variables, sleep quality, and HRQOL scores of each chronotype category of worker under early and normal working conditions. As the results, evening type workers had late sleep onset/offset time, poor sleep quality, and low HRQOL (role-social component) compared to morning type workers. Furthermore, the evening type workers under early working conditions had earlier sleep onset/offset time and poorer sleep quality compared to those workers under normal working conditions. These results suggest that evening type workers in general have poor sleep and low HRQOL and those same workers under early working conditions, in particular, are associated with poor sleep quality. Therefore, in order to optimize worker health, we suggest that working conditions should be taken account of individual chronotypes.

日本的一些公司为了减少夜间长时间工作的数量,引入了早期工作条件(包括建议早起工作和禁止夜间加班)。然而,每个人都有自己的时间类型,也就是说,他们的行为时间偏好——是早上还是晚上——与员工的健康有关。摘要本研究以126名白天上班族为研究对象,根据早晚性问卷得分将其分为“早起型”和“晚睡型”,探讨时间类型和工作条件对睡眠和健康相关生活质量的影响。然后,我们比较了早晨型和晚上型工作者的睡眠变量(睡眠开始/偏移时间和总睡眠时间)、睡眠质量(使用日本版匹兹堡睡眠质量指数)和HRQOL分数。此外,我们比较了相同的睡眠变量,睡眠质量和HRQOL评分的每个时型类别的工人在早期和正常工作条件下。结果表明,与早起型工作者相比,夜猫子型工作者的睡眠时间较晚,睡眠质量较差,HRQOL(角色-社会成分)较低。此外,与正常工作条件下的工人相比,早期工作条件下的夜班工人睡眠开始/抵消时间早,睡眠质量差。这些结果表明,夜班工人通常睡眠质量较差,HRQOL较低,特别是那些在早班工作的工人,睡眠质量较差。因此,为了优化工人的健康,我们建议工作条件应该考虑到个人的睡眠类型。
{"title":"The Influence of Chronotype and Working Condition on Sleep Status and Health Related Quality of Life of Daytime Office Workers.","authors":"Yuh Sasawaki,&nbsp;Hideyuki Shiotani","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Several companies in Japan introduced early working conditions (including recommendations on early morning work and prohibitions on nighttime overtime work) to decrease the number of long working hours at night. Nevertheless, individuals possess their own chronotype, i.e., their behavioral timing preference-be it morning or evening-that is associated with worker health. The purpose of this study was to investigate the influence of chronotype and working conditions on sleep and health related quality of life (HRQOL) using 126 daytime office workers who were classified as morning or evening type by their Morningness-Eveningness Questionnaire scores. We then compared morning and evening type workers' sleep variables (sleep onset/offset time and total sleep time), sleep quality (using the Japanese version of the Pittsburgh Sleep Quality Index), and HRQOL scores. Additionally, we compared the same sleep variables, sleep quality, and HRQOL scores of each chronotype category of worker under early and normal working conditions. As the results, evening type workers had late sleep onset/offset time, poor sleep quality, and low HRQOL (role-social component) compared to morning type workers. Furthermore, the evening type workers under early working conditions had earlier sleep onset/offset time and poorer sleep quality compared to those workers under normal working conditions. These results suggest that evening type workers in general have poor sleep and low HRQOL and those same workers under early working conditions, in particular, are associated with poor sleep quality. Therefore, in order to optimize worker health, we suggest that working conditions should be taken account of individual chronotypes.</p>","PeriodicalId":39560,"journal":{"name":"Kobe Journal of Medical Sciences","volume":"64 5","pages":"E189-E196"},"PeriodicalIF":0.0,"publicationDate":"2019-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6668588/pdf/kobej-64-e189.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37318857","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Investigation of the Treatment and Living Assistance Needed by Patients with Young-Onset Parkinson's Disease. 早发型帕金森病患者治疗及生活援助需求调查。
Q3 Medicine Pub Date : 2019-02-21
Yumi Iwasa, Izumi Saito, Chieko Fujii

Purpose: This study assessed the symptoms, treatment, social systems use, and perception of living conditions of patients with young-onset Parkinson's disease (YOPD), and investigated the support needed by them.

Method: Among the 252 people who completed our questionnaire, we defined YOPD patients as those diagnosed as young onset or those with onset at ≤40 years. The data were compared with others.

Results: There were 24 patients with YOPD (9.5%) (average age: 61.7 years), with an average disease duration 6.4 years longer (p < 0.01) and time until diagnosis 0.7 years longer (p < 0.1) than those of other patients. This group took 1.6 times more types of medicines, and time to their next appointment was 8.6 days shorter than that of other patients (p < 0.05). Patients with YOPD had more pulsive walking and more sweating (p < 0.05), and more motor fluctuation (p < 0.1). More patients with YOPD had a physical disability certificate but felt they were not obtaining the required services (p < 0.05). 45.0% of the YOPD group wanted to work more, more used information and communication equipment (p < 0.05), and more felt their medications were adequate (p < 0.1).

Conclusions: Increased awareness of YOPD is needed. YOPD patients have motor fluctuation because of the longer disease duration. Thus, the support of doctors and nurses, and frequent examination visits, are indispensable for controlling symptoms to achieve middle age developmental tasks. Increased support for care-giving, leisure-time activities, and work is also necessary and may help maintain the desire to work in this group.

目的:本研究评估了年轻发病帕金森病(YOPD)患者的症状、治疗、社会系统的使用和对生活条件的感知,并调查了他们所需的支持。方法:在完成问卷调查的252人中,我们将YOPD患者定义为诊断为年轻发病或发病≤40年的患者。将这些数据与其他数据进行比较。结果:YOPD患者24例(9.5%),平均年龄61.7岁,病程平均延长6.4年(p < 0.01),确诊时间平均延长0.7年(p < 0.1)。该组用药种类比其他组多1.6倍,到下次就诊时间比其他组短8.6天(p < 0.05)。YOPD患者脉搏行走增多、出汗增多(p < 0.05),运动波动增多(p < 0.1)。更多的YOPD患者有身体残疾证明,但认为他们没有得到所需的服务(p < 0.05)。45.0%的YOPD组想要更多地工作,更多地使用信息和通信设备(p < 0.05),更多的人认为他们的药物是足够的(p < 0.1)。结论:需要提高对YOPD的认识。由于病程较长,YOPD患者存在运动波动。因此,医生和护士的支持,以及经常的检查,对于控制症状以完成中年发展任务是必不可少的。增加对照顾、休闲活动和工作的支持也是必要的,这可能有助于保持在这个群体中工作的愿望。
{"title":"Investigation of the Treatment and Living Assistance Needed by Patients with Young-Onset Parkinson's Disease.","authors":"Yumi Iwasa,&nbsp;Izumi Saito,&nbsp;Chieko Fujii","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Purpose: </strong>This study assessed the symptoms, treatment, social systems use, and perception of living conditions of patients with young-onset Parkinson's disease (YOPD), and investigated the support needed by them.</p><p><strong>Method: </strong>Among the 252 people who completed our questionnaire, we defined YOPD patients as those diagnosed as young onset or those with onset at ≤40 years. The data were compared with others.</p><p><strong>Results: </strong>There were 24 patients with YOPD (9.5%) (average age: 61.7 years), with an average disease duration 6.4 years longer (p < 0.01) and time until diagnosis 0.7 years longer (p < 0.1) than those of other patients. This group took 1.6 times more types of medicines, and time to their next appointment was 8.6 days shorter than that of other patients (p < 0.05). Patients with YOPD had more pulsive walking and more sweating (p < 0.05), and more motor fluctuation (p < 0.1). More patients with YOPD had a physical disability certificate but felt they were not obtaining the required services (p < 0.05). 45.0% of the YOPD group wanted to work more, more used information and communication equipment (p < 0.05), and more felt their medications were adequate (p < 0.1).</p><p><strong>Conclusions: </strong>Increased awareness of YOPD is needed. YOPD patients have motor fluctuation because of the longer disease duration. Thus, the support of doctors and nurses, and frequent examination visits, are indispensable for controlling symptoms to achieve middle age developmental tasks. Increased support for care-giving, leisure-time activities, and work is also necessary and may help maintain the desire to work in this group.</p>","PeriodicalId":39560,"journal":{"name":"Kobe Journal of Medical Sciences","volume":"64 5","pages":"E180-E188"},"PeriodicalIF":0.0,"publicationDate":"2019-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6668587/pdf/kobej-64-e180.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37318856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Kobe Journal of Medical Sciences
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