多重聚合酶链反应快速诊断基因缺失型假肥大型肌营养不良症

“…应用９对寡核苷酸引物先５对后４对分２套分别扩增Ｄｕｃｈｈｅｎｎｅ型肌营养不良症（ＤＭＤ）基因９个不同的外显子区域，对９个ＤＭＤ型肌营养不良症（ＤＭＤ）家系和１个ＢＭＤ家系共１３例ＤＭＤ／ＢＭＤ患者进行筛查，发现７例ＤＭＤ患者的ＤＭＤ基因存在一个或数个外显子所在的区域的缺失，从而不但明确了这些家系ＤＭＤ基因突变的分子基础，而且为这些家系的遗传咨询和产前诊断提供了科学依据。…”
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The Value of Serum Midkine Level in Diagnosis of Hepatocellular Carcinoma by Karim Y. A. Shaheen, Abeer I. Abdel-Mageed, Eslam Safwat, Ashraf M. AlBreedy

“…Serum MDK using ELISA was measured in all included subjects. …”
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Advances in Nucleic Acid Drugs and Gene Therapies based on Animal Models of Duchenne Muscular Dystrophy by LIU Siyu, LAI Yuezhao, GUO Wenting, CHEN Xuejin

“…Duchenne muscular dystrophy (DMD) is a severe X-linked recessive genetic disorder caused by mutations in the DMD gene, making it one of the most common forms of hereditary muscular dystrophy. …”
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Design and Implementation of a Mobile Multihop WSN for AGV System by Jiaqi Zhang, Molin Jia, Noriyoshi Yamauchi, Takaaki Baba

“…A system data sharing protocol of mobile WSN named synchronous dynamic multihop data sharing protocol (S-DMDS) is presented for automated guided vehicle (AGV) system. …”
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FORCE platform overcomes barriers of oligonucleotide delivery to muscle and corrects myotonic dystrophy features in preclinical models by Timothy Weeden, Tyler Picariello, Brendan Quinn, Sean Spring, Pei-Yi Shen, Qifeng Qiu, Benjamin F. Vieira, Lydia Schlaefke, Ryan J. Russo, Ya-An Chang, Jin Cui, Monica Yao, Aiyun Wen, Nelson Hsia, Tama Evron, Katy Ovington, Pei-Ni Tsai, Nicholas Yoder, Bo Lan, Reshmii Venkatesan, John Hall, Cody A. Desjardins, Mo Qatanani, Scott Hilderbrand, John Najim, Zhenzhi Tang, Matthew K. Tanner, Romesh Subramanian, Charles A. Thornton, Oxana Ibraghimov-Beskrovnaya, Stefano Zanotti

“…DYNE-101 is the conjugate designed to target DMPK and correct spliceopathy for the treatment of DM1. …”
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Titin fragment is a sensitive biomarker in Duchenne muscular dystrophy model mice carrying full-length human dystrophin gene on human artificial chromosome by Yosuke Hiramuki, Miwa Hosokawa, Kayo Osawa, Taku Shirakawa, Yasuhiro Watanabe, Ritsuko Hanajima, Hiroyuki Kugoh, Hiroyuki Awano, Masafumi Matsuo, Yasuhiro Kazuki

“…Abstract Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutations of the dystrophin gene, which spans 2.4 Mb on the X chromosome. …”
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Simultaneous Determination of 13 Constituents of Radix Polygoni Multiflori in Rat Plasma and Its Application in a Pharmacokinetic Study by Wenhao Cheng, Yinghui Li, Wei Yang, Siyang Wu, Mengmeng Wei, Yang Gao, Chen Kang, Shuofeng Zhang, Yingfei Li

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Prevalence and comorbidity rates of disruptive mood dysregulation disorder in epidemiological and clinical samples: systematic review and meta-analysis by Xavier Benarous, Hélène Lahaye, Angèle Consoli, David Cohen, Réal Labelle, Jean-Marc Guilé

“… Abstract Background This systematic review and meta-analysis evaluates the prevalence of disruptive mood dysregulation disorders (DMDD) in community-based and clinical populations. …”
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Prognostic models for depression and post-traumatic stress disorder symptoms following traumatic brain injury: a CENTER-TBI study by Kelly Jones, Antonio Belli, Suzanne Polinder, Emmanuel Stamatakis, Hester F Lingsma, Dick Tibboel, Ronny Beer, Raimund Helbok, Horia Ples, Ari Ercole, Peter Cameron, Marek Czosnyka, Catherine McMahon, Peter Vajkoczy, Paul Dark, Alexandra Brazinova, Marek Majdan, Rahul Raj, William Stewart, Ewout W Steyerberg, Giuseppe Citerio, Nino Stocchetti, Alessia Vargiolu, Hester Lingsma, Helen Dawes, Benoit Misset, Faye Johnson, David van Klaveren, Simon Stanworth, Fiona Lecky, Peter Smielewski, Alice Theadom, Peter Bragge, David Nelson, János Sándor, Paul M Vespa, Olli Tenovuo, Olav Røise, Wim Van Hecke, Vincent Degos, David Menon, Bart Depreitere, Audny Anke, Rolf Rossaint, Mark Coburn, Victor Volovici, Daan Nieboer, Jonathan Rosand, Nada Andelic, Hans Clusmann, Emma Donoghue, Jonathan Coles, stefan jankowski, Jonathan Rhodes, Guy Williams, Rolf Lefering, Mathieu van der Jagt, Daniel Kondziella, Noah D Silverberg, Arturo Chieregato, Sophie Richter, Endre Czeiter, Stefan Winzeck, Jan Verheyden, András Büki, Benjamin Gravesteijn, Evgenios Kornaropoulos, Virginia Newcombe, Lindsay Wilson, Lindsay Horton, Amra Covic, Dominique Van Praag, Cecilia Åkerlund, Krisztina Amrein, Lasse Andreassen, Anna Antoni, Gérard Audibert, Philippe Azouvi, Ronald Bartels, Pál Barzó, Romuald Beauvais, Bo-Michael Bellander, Habib Benali, Maurizio Berardino, Luigi Beretta, Morten Blaabjerg, Vibeke Brinck, Joanne Brooker, Camilla Brorsson, Monika Bullinger, Manuel Cabeleira, Alessio Caccioppola, Emiliana Calappi, Guillermo Carbayo Lozano, Marco Carbonara, Simona Cavallo, Giorgio Chevallard, Marta Correia, Nicola Curry, Véronique De Keyser, Hugo den Boogert, Đula Đilvesi, Abhishek Dixit, Jens Dreier, Patrick Esser, Erzsébet Ezer, Martin Fabricius, Kelly Foks, Shirin Frisvold, Alex Furmanov, Pablo Gagliardo, Damien Galanaud, Dashiell Gantner, Guoyi Gao, Pradeep George, Alexandre Ghuysen, Lelde Giga, Jagoš Golubovic Ben Glocker, Johannes Gratz, Francesca Grossi, Deepak Gupta, Iain Haitsma, Eirik Helseth, Jilske Huijben, Bram Jacobs, Mike Jarrett, Mladen Karan, Erwin Kompanje, Noémi Kovács, Ana Kowark, Alfonso Lagares, Linda Lanyon, Steven Laureys, Didier Ledoux, Valerie Legrand, Aurelie Lejeune, Leon Levi, Roger Lightfoot, Marc Maegele, Alex Manara, Geoffrey Manley, Costanza Martino, Hugues Maréchal, Julia Mattern, Béla Melegh, Tomas Menovsky, Ana Mikolic, Visakh Muraleedharan, Lynnette Murray, Ancuta Negru, József Nyirádi, Otesile Olubukola, Matej Oresic, Fabrizio Ortolano, Aarno Palotie, Paul M Parizel, Natascha Perera, Vincent Perlbarg, Paolo Persona, Wilco Peul, Matti Pirinen, Inigo Pomposo, Louis Puybasset, Andreea Radoi, Arminas Ragauskas, Malinka Rambadagalla, Sylvia Richardson, Samuli Ripatti, Saulius Rocka, Cecilie Roe, Christina Rosenlund, Guy Rosenthal, Sandra Rossi, Juan Sahuquillo, Oliver Sakowitz, Nadine Schäfer, Silke Schmidt, Herbert Schoechl, Guus Schoonman, Elisabeth Schwendenwein, Charlie Sewalt, Toril Skandsen, Abayomi Sorinola, Robert Stevens, Nina Sundström, Riikka Takala, Viktória Tamás, Tomas Tamosuitis, Mark Steven Taylor, Matt Thomas, Marjolein Timmers, Christos Tolias, Tony Trapani, Shirley Vallance, Egils Valeinis, Zoltán Vámos, Emmanuel Vega, Kimberley Velt, Anne Vik, Rimantas Vilcinis, Daphne Voormolen, Petar Vulekovic, Kevin K W Wang, Eveline Wiegers, Stefan Wolf, Zhihui Yang, Peter Ylén, Alexander Younsi, Frederick A Zeiler, Veronika Zelinkova, Agate Ziverte, Tommaso Zoerle, Joukje van der Naalt, Braden Te Ao, Caroline van Heugten, Francesco Della Corte, Ernest Van Veen, Andrew IR Maas, Andreas Unterberg, Thomas A van Essen, Mathilde Jost, Shuyuan Shi, Maria Luisa Azzolini, Maria Rosa Calvi, Jamie D Cooper, Claire Dahyot Fizelier, Guy Loup Dulière, Valery L Feigin, Pedro A Gomez, Russell L Gruen, Juanita A Haagsma, Peter J Hutchinson, Ji yao Jiang, Angelos G Kolias, Lars Owe Koskinen, Andrew I Z Maas, Ana M Castaño León, Jean François Payen, Anna Piippo Karjalainen, Dana Pisica, Jussi PPosti, Isabel Retel Helmrich, Jeffrey VRosenfeld, Daniel Rueckert Martin Rusnák, Renan SanchezPorras, Rico Frederik Schou, Cristina Maria Tudora, Gregory Van der Steen, Jeroen T J M van Dijck, Thijs Vande Vyvere, Roel P J van Wijk, Nicole von Steinbüchel

“…Background Traumatic brain injury (TBI) is associated with an increased risk of major depressive disorder (MDD) and post-traumatic stress disorder (PTSD). …”
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Temperature dependence of analogue/RF performance, linearity and harmonic distortion for dual‐material gate‐oxide‐stack double‐gate TFET by Satyendra Kumar

“…It could be stated that DMGOSDG‐TFET is more insensitive with respect to temperature variation in terms of DC, analogue/RF and linearity performances as compared to conventional DMDG‐TFET. Moreover, in terms of harmonic distortion characteristics DMGOSDG‐TFET is found to be more stable with temperature variation as compared to DMDG‐TFET.…”
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Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy by Mehmet Sinan Beksac, Atakan Tanacan, Duygu Aydin Hakli, Gokcen Orgul, Burcu Soyak, Burcu Balci Hayta, Pervin Dincer, Haluk Topaloğlu

“…To show the importance of prenatal diagnosis of Duchenne Muscular Dystrophy (DMD) and to demonstrate the effect of DMD gene mutations on gestational outcomes. …”
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Preference for and resistance to a toxic sulfur volatile opens up a unique niche in Drosophila busckii by Venkatesh Pal Mahadevan, Diego Galagovsky, Markus Knaden, Bill S. Hansson

“…Here we show that the human commensal species Drosophila busckii uses dimethyldisulfide (DMDS) as a key mediator in its host selection. Despite DMDS’s neurotoxic properties, D. busckii has evolved tolerance towards high concentrations and uses the compound as an olfactory cue to pinpoint food and oviposition sites. …”
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Histone deacetylase inhibition with givinostat: a multi-targeted mode of action with the potential to halt the pathological cascade of Duchenne muscular dystrophy by A. Aartsma-Rus

“…HDAC inhibition has consequently been investigated as a therapeutic approach for muscular dystrophies that, significantly, works independently from specific genetic mutations, making it potentially suitable for all patients with DMD. This review discusses how HDAC inhibition addresses DMD pathophysiology in a multi-targeted mode of action and summarizes the recent evidence on the rationale for HDAC inhibition with givinostat, which is now approved by the United States Food and Drug Administration for the treatment of DMD in patients aged 6 years and older.…”
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Duchenne型肌营养不良症

“…作者综述了１０年来对Ｄｕｃｈｅｎｎｅ型肌营养不良症（ＤＭＤ）的研究概况。主要包括①ＤＭＤ的临床研究。②血清生化研究表明ＣＫ、ＬＤＨ、Ｍｂ是诊断ＤＭＤ病人和携带者的敏感指标。…”
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Pharmacological interventions for the management of anesthesia and sedation in patients with Duchenne muscular dystrophy: a systematic review and meta-analysis by Xianghong Lian, Xianghong Lian, Xianghong Lian, Yang Jing, Yang Jing, Yang Jing, Ting Luo, Ting Luo, Ting Luo, Yixin Guo, Yixin Guo, Yixin Guo, Yunzhu Lin, Yunzhu Lin, Yunzhu Lin

“…Compared with those of the control group, the sensitivity of patients with DMD to neuromuscular blocking agents (NMBAs) may have resulted in a prolonged onset time [MD = −0.96, 95% CI (0.71, 2.60), I2 = 33%, P < 0.0001] and recovery time [MD = 2.22, 95% CI (1.14, 3.30), I2 = 76%, P < 0.0001] from anesthesia. …”
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Unraveling the Genetic Heartbeat: Decoding Cardiac Involvement in Duchenne Muscular Dystrophy by Valeria Novelli, Francesco Canonico, Renzo Laborante, Martina Manzoni, Alessandra Arcudi, Giulio Pompilio, Eugenio Mercuri, Giuseppe Patti, Domenico D’Amario

“…Cardiomyopathy represents the most important life-limiting condition of Duchenne muscular dystrophy (DMD) patients after the age of 20. Genetic alterations in the DMD gene result in the absence of functional dystrophin protein, leading to skeletal/cardiac muscle impairment. …”
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Development of an mPBPK machine learning framework for early target pharmacology assessment of biotherapeutics by Krutika Patidar, Nikhil Pillai, Saroj Dhakal, Lindsay B. Avery, Panteleimon D. Mavroudis

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Molecular Changes in Aqueous Humor Associated with Inflammation Following Cataract Surgery in Patients with Fuchs’ Endothelial Corneal Dystrophy by Lizaveta Chychko, Hyeck-Soo Son, Maximilian Friedrich, Ramin Khoramnia, Gerd U. Auffarth, Victor A. Augustin

“…Methods In this prospective single-center study, 15 patients with FECD underwent cataract surgery and DMEK in a two-stage procedure. Aqueous humor was collected from the AC at the beginning of cataract surgery and 3 months later at the beginning of DMEK. …”
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A novel wind power forecast diffusion model based on prior knowledge by Li Han, Yingjie Cheng, Shuo Chen, Shiqi Wang, Junjie Wang

“…Abstract To improve the forecast accuracy of wind power, diffusion model based on prior knowledge (DMPK) is proposed. Different from the traditional diffusion model (DM), where the noise perturbation in the diffusion or generation process is random, the noise added in DMPK is modified aiming to the characteristics of wind power signals. …”
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Cellular Reprogramming, Genome Editing, and Alternative CRISPR Cas9 Technologies for Precise Gene Therapy of Duchenne Muscular Dystrophy by Peter Gee, Huaigeng Xu, Akitsu Hotta

“…In particular, Duchenne muscular dystrophy (DMD) has been an exemplary monogenic disease model for combining these technologies to demonstrate that genome editing can correct genetic mutations in DMD patient-derived iPSCs. …”
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