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https://www.readbyqxmd.com/read/29342275/hot-spot-kif5a-mutations-cause-familial-als
#1
David Brenner, Rüstem Yilmaz, Kathrin Müller, Torsten Grehl, Susanne Petri, Thomas Meyer, Julian Grosskreutz, Patrick Weydt, Wolfgang Ruf, Christoph Neuwirth, Markus Weber, Susana Pinto, Kristl G Claeys, Berthold Schrank, Berit Jordan, Antje Knehr, Kornelia Günther, Annemarie Hübers, Daniel Zeller, Christian Kubisch, Sibylle Jablonka, Michael Sendtner, Thomas Klopstock, Mamede de Carvalho, Anne Sperfeld, Guntram Borck, Alexander E Volk, Johannes Dorst, Joachim Weis, Markus Otto, Joachim Schuster, Kelly Del Tredici, Heiko Braak, Karin M Danzer, Axel Freischmidt, Thomas Meitinger, Tim M Strom, Albert C Ludolph, Peter M Andersen, Jochen H Weishaupt
Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). Moreover, heterozygous de novo frame-shift mutations in the C-terminal domain of KIF5A are associated with neonatal intractable myoclonus, a neurodevelopmental syndrome. These findings, together with the observation that many of the disease genes associated with amyotrophic lateral sclerosis disrupt cytoskeletal function and intracellular transport, led us to hypothesize that mutations in KIF5A are also a cause of amyotrophic lateral sclerosis...
January 12, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29340917/biliary-bypass-with-laparoscopic-choledochoduodenostomy
#2
Joshua K Kays, Leonidas G Koniaris, Daniel P Milgrom, Attila Nakeeb
Laparoscopic choledochoduodenostomy (LCDD) is employed to treat many benign biliary diseases when endoscopic or percutaneous techniques are not feasible. We describe our technique for LCDD, which utilizes common bile duct transection and an end-to-side biliary-enteric anastomosis. This procedure includes the following elements: isolation and transection of the common bile duct, mobilization of the duodenum (Kocher maneuver), inspection of the common bile duct, and end-to-side biliary-enteric anastomosis. Key details and pitfalls are discussed...
January 16, 2018: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
https://www.readbyqxmd.com/read/29339961/skew-deviation-and-partial-ocular-tilt-reaction-due-to-intratympanic-gentamicin-injection-with-review-of-the-literature
#3
Samuel M Dresner, Nathan H Kung, Joel R Palko, Jonathan L McJunkin, Joel A Goebel, Gregory P Van Stavern
Skew deviation is a rare side effect of intratympanic gentamicin injection for intractable Meniere's disease. When the skew deviation is accompanied by pathologic head tilt and ocular torsion, the result is an ocular tilt reaction (OTR). The authors report the case of a 56-year-old man with refractory Meniere's disease who developed binocular vertical diplopia following intratympanic gentamicin injection and was found to have skew deviation and a partial ocular tilt reaction. The authors also review the reported cases of skew deviation following intratympanic gentamicin and confirm this phenomenon, which has only rarely been reported in the literature...
October 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/29339431/molecular-insights-into-function-and-competitive-inhibition-of-pseudomonas-aeruginosa-multiple-virulence-factor-regulator
#4
Tomoe Kitao, Francois Lepine, Seda Babloudi, Frederick Walte, Stefan Steinbacher, Klaus Maskos, Michael Blaesse, Michele Negri, Michael Pucci, Bob Zahler, Antonio Felici, Laurence G Rahme
New approaches to antimicrobial drug discovery are urgently needed to combat intractable infections caused by multidrug-resistant (MDR) bacteria. Multiple virulence factor regulator (MvfR or PqsR), a Pseudomonas aeruginosa quorum sensing transcription factor, regulates functions important in both acute and persistent infections. Recently identified non-ligand-based benzamine-benzimidazole (BB) inhibitors of MvfR suppress both acute and persistent P. aeruginosa infections in mice without perturbing bacterial growth...
January 16, 2018: MBio
https://www.readbyqxmd.com/read/29339322/endoscopic-endonasal-craniofacial-surgery-for-recurrent-skull-base-meningiomas-involving-the-pterygopalatine-fossa-the-infratemporal-fossa-the-orbit-and-the-paranasal-sinus
#5
Masahiro Shin, Masaaki Shojima, Kenji Kondo, Hirotaka Hasegawa, Shunya Hanakita, Akihiro Ito, Taichi Kin, Nobuhito Saito
OBJECT: Skull base meningiomas carry a non-negligible risk of recurrence. In particular, those arising from the sphenoid wings or middle cranial fossa penetrate into extracranial regions, uncommonly showing massive expansion into the craniofacial regions on recurrence. The role of endoscopic endonasal surgery for those intractable lesions remains unclear. METHODS: We performed endoscopic endonasal craniofacial surgery for 8 recurrent meningiomas invading into the pterygopalatine fossa, infratemporal fossa, nasopharynx, paranasal sinus, or orbit, comprising 2 meningothelial and 1 fibrous meningiomas (WHO grade I), 3 atypical and 1 clear cell meningiomas (grade II), and 1 anaplastic meningioma (grade III)...
January 12, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29335539/brain-activity-patterns-in-high-throughput-electrophysiology-screen-predict-both%C3%A2-drug-efficacies-and-side-effects
#6
Peter M Eimon, Mostafa Ghannad-Rezaie, Gianluca De Rienzo, Amin Allalou, Yuelong Wu, Mu Gao, Ambrish Roy, Jeffrey Skolnick, Mehmet Fatih Yanik
Neurological drugs are often associated with serious side effects, yet drug screens typically focus only on efficacy. We demonstrate a novel paradigm utilizing high-throughput in vivo electrophysiology and brain activity patterns (BAPs). A platform with high sensitivity records local field potentials (LFPs) simultaneously from many zebrafish larvae over extended periods. We show that BAPs from larvae experiencing epileptic seizures or drug-induced side effects have substantially reduced complexity (entropy), similar to reduced LFP complexity observed in Parkinson's disease...
January 15, 2018: Nature Communications
https://www.readbyqxmd.com/read/29333355/bilateral-peripheral-nerve-field-stimulation-for-intractable-coccygeal-pain-a-case-study-using-dual-lead-intercommunication
#7
Michelle Granville, Patrick T Brennan, Robert E Jacobson
Coccygeal pain is a difficult chronic pain problem with mixed response to various treatments. This is a report of a case of coccygeal pain that after failing various conservative and interventional procedures over five years was evaluated with a temporary peripheral sacral fascial lead followed by implantation of bilateral sacral paramedian leads for peripheral nerve field stimulation (PNFS). This resulted in marked pain control and resumption of full activity. The visual analog scale (VAS) pain score improved from eight pre-implant to one after implant and has remained at that level in follow-up...
November 9, 2017: Curēus
https://www.readbyqxmd.com/read/29331955/low-value-care-an-intractable-global-problem-with-no-quick-fix
#8
John N Mafi, Michael Parchman
No abstract text is available yet for this article.
January 13, 2018: BMJ Quality & Safety
https://www.readbyqxmd.com/read/29328005/a-novel-use-of-the-neuroblate-sidefire-probe-for-minimally-invasive-disconnection-of-a-hypothalamic-hamartoma-in-a-child-with-gelastic-seizures
#9
James M Wright, Michael D Staudt, Andrea Alonso, Jonathan P Miller, Andrew E Sloan
The authors describe the case of a 22-month-old boy who presented with gelastic seizures and developmental delay. Magnetic resonance imaging and video-electroencephalography monitoring revealed a primarily intraventricular hypothalamic hamartoma and gelastic seizures occurring 20-30 times daily. The patient was treated with various regimens of antiepileptic medications for 16 months, but the seizures remained medically intractable. At 3 years of age, he underwent stereotactic laser ablation with an aim of disconnection of the lesion...
January 12, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29327580/measuring-rna-ligand-interactions-with-microscale-thermophoresis
#10
Michelle H Moon, Thomas Hilimire, Allix M Sanders, John S Schneekloth
In the past twenty years, there has been a dramatic increase in the study of RNA. RNA has gone from being known as an intermediate in the central dogma of molecular biology to a molecule with a large diversity of structure and function that is involved in all aspects of biology. As new functions are rapidly discovered, it has become clear that there is a need for RNA-targeting small molecule probes to investigate RNA biology and clarify the potential for therapeutics based on RNA/small molecule interactions...
January 12, 2018: Biochemistry
https://www.readbyqxmd.com/read/29325675/mycophenolate-mofetil-as-a-therapeutic-agent-for-interstitial-lung-diseases-in-systemic-sclerosis
#11
REVIEW
Takahiro Ueda, Takuro Sakagami, Toshiaki Kikuchi, Toshinori Takada
Systemic sclerosis (SSc) is an intractable disease that causes fibrosis in all organs. Approximately 40% of patients with SSc have some degree of interstitial lung disease (ILD). One third of patients with SSc and ILD, approximately 15% of all patients, have pulmonary lesions, which slowly progress to respiratory failure resistant to corticosteroid and other treatments. A randomized controlled trial conducted in the United States indicated that one year of treatment with oral cyclophosphamide in patients with SSc-ILD had a significant but modest beneficial effect on lung function, dyspnea, thickening of the skin, and health-related quality of life...
January 2018: Respiratory Investigation
https://www.readbyqxmd.com/read/29324503/%C3%AE-asarone-alleviated-chronic-constriction-injury-induced-neuropathic-pain-through-inhibition-of-spinal-endoplasmic-reticulum-stress-in-an-liver-x-receptor-dependent-manner
#12
Yulong Gui, Aiyuan Li, Jie Zhang, Guan Li, Xia Ruan, Qulian Guo, Wangyuan Zou
BACKGROUND: Neuropathic pain is an intractable and complex disease. Recent studies have shown a close relationship between endoplasmic reticulum (ER) stress and neuropathic pain. Here, we investigated the effect of α-asarone, an ER stress inhibitor, on chronic constriction injury (CCI)-induced neuropathic pain. METHODS: Two parts were included in this study. In part 1, rats were assigned to 7 groups: the sham group, the sham + α-asarone 20 mg/kg group, the CCI group, the CCI + vehicle group, the CCI + α-asarone 5 mg/kg group, the CCI + α-asarone 10 mg/kg group, and the CCI + α-asarone 20 mg/kg group...
January 9, 2018: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/29322093/heralded-quantum-steering-over-a-high-loss-channel
#13
Morgan M Weston, Sergei Slussarenko, Helen M Chrzanowski, Sabine Wollmann, Lynden K Shalm, Varun B Verma, Michael S Allman, Sae Woo Nam, Geoff J Pryde
Entanglement is the key resource for many long-range quantum information tasks, including secure communication and fundamental tests of quantum physics. These tasks require robust verification of shared entanglement, but performing it over long distances is presently technologically intractable because the loss through an optical fiber or free-space channel opens up a detection loophole. We design and experimentally demonstrate a scheme that verifies entanglement in the presence of at least 14.8 ± 0.1 dB of added loss, equivalent to approximately 80 km of telecommunication fiber...
January 2018: Science Advances
https://www.readbyqxmd.com/read/29318090/c1-2-fixation-approach-for-patients-with-vascular-irregularities-a-case-report
#14
Alireza K Nazemi, Stetson R Bickley, Caleb J Behrend, Jonathan J Carmouche
In posterior spinal fusion (PSF), the vertebral artery is most vulnerable to injury at C1-2. C2 pedicle screws are often placed into the dorsomedial isthmus of C2. Alternative techniques include C2 laminar screws and wiring techniques. A 67-year-old male underwent PSF for persistent severe intractable neck pain and degeneration at C1-2. The patient had an enlarged left vertebral artery with midline migration into the C2 body. This pattern was within one standard deviation of normal; however, it rendered typical placement of a C2 pedicle screw unsafe...
December 2017: Geriatric Orthopaedic Surgery & Rehabilitation
https://www.readbyqxmd.com/read/29317638/weakly-perturbative-imaging-of-interfacial-water-with-submolecular-resolution-by-atomic-force-microscopy
#15
Jinbo Peng, Jing Guo, Prokop Hapala, Duanyun Cao, Runze Ma, Bowei Cheng, Limei Xu, Martin Ondráček, Pavel Jelínek, Enge Wang, Ying Jiang
Scanning probe microscopy has been extensively applied to probe interfacial water in many interdisciplinary fields but the disturbance of the probes on the hydrogen-bonding structure of water has remained an intractable problem. Here, we report submolecular-resolution imaging of the water clusters on a NaCl(001) surface within the nearly noninvasive region by a qPlus-based noncontact atomic force microscopy. Comparison with theoretical simulations reveals that the key lies in probing the weak high-order electrostatic force between the quadrupole-like CO-terminated tip and the polar water molecules at large tip-water distances...
January 9, 2018: Nature Communications
https://www.readbyqxmd.com/read/29316566/double-anterior-stereotactic-cingulotomy-for-intractable-oncological-pain
#16
Ido Strauss, Assaf Berger, Shlomit Ben Moshe, Michal Arad, Uri Hochberg, Tal Gonen, Rotem Tellem
BACKGROUND: Stereotactic anterior cingulotomy has been used in the treatment of patients suffering from refractory oncological pain due to its effects on pain perception. However, the optimal targets as well as suitable candidates and outcome measures have not been well defined. We report our initial experience in the ablation of 2 cingulotomy targets on each side and the use of the Brief Pain Inventory (BPI) as a perioperative assessment tool. METHODS: A retrospective review of all patients who underwent stereotactic anterior cingulotomy in our Department between November 2015 and February 2017 was performed...
January 10, 2018: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/29316547/o-arm-guided-percutaneous-radiofrequency-cordotomy
#17
Ido Strauss, Assaf Berger, Michal Arad, Uri Hochberg, Rotem Tellem
BACKGROUND: Pain is often one of the most debilitating symptoms in patients with advanced oncological disease. Patients with localized pain due to malignancy refractory to medical treatment can benefit from selective percutaneous cordotomy that disconnects the ascending pain fibers in the spinothalamic tract. OBJECTIVES: Over the past year, we have been performing percutaneous radiofrequency cordotomy with the use of the O-Arm intraoperative imaging system that allows both 2D fluoroscopy and 3D reconstructed computerized tomography imaging...
January 10, 2018: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/29315559/substance-use-through-adolescence-into-early-adulthood-after-childhood-diagnosed-adhd-findings-from-the-mta-longitudinal-study
#18
Brooke S G Molina, Andrea L Howard, James M Swanson, Annamarie Stehli, John T Mitchell, Traci M Kennedy, Jeffery N Epstein, L Eugene Arnold, Lily Hechtman, Benedetto Vitiello, Betsy Hoza
BACKGROUND: Inconsistent findings exist regarding long-term substance use (SU) risk for children diagnosed with attention-deficit/hyperactivity disorder (ADHD). The observational follow-up of the Multimodal Treatment Study of Children with ADHD (MTA) provides an opportunity to assess long-term outcomes in a large, diverse sample. METHODS: Five hundred forty-seven children, mean age 8.5, diagnosed with DSM-IV combined-type ADHD and 258 classmates without ADHD (local normative comparison group; LNCG) completed the Substance Use Questionnaire up to eight times from mean age 10 to mean age 25...
January 8, 2018: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/29314039/tracheoesophageal-diversion-and-puncture-operation-for-intractable-aspiration-a-case-series
#19
Toshiro Umezaki, Kazuo Adachi, Naoko Matsubara, Yogaku Lee
No abstract text is available yet for this article.
January 4, 2018: Laryngoscope
https://www.readbyqxmd.com/read/29311299/testing-the-impact-and-durability-of-a-group-malleability-intervention-in-the-context-of-the-israeli-palestinian-conflict
#20
Amit Goldenberg, Smadar Cohen-Chen, J Parker Goyer, Carol S Dweck, James J Gross, Eran Halperin
Fostering perceptions of group malleability (teaching people that groups are capable of change and improvement) has been shown to lead to short-term improvements in intergroup attitudes and willingness to make concessions in intractable conflicts. The present study, a field intervention involving 508 Israelis from three locations in Israel, replicated and substantially extended those findings by testing the durability of a group malleability intervention during a 6-month period of frequent violence. Three different 5-hour-long interventions were administered as leadership workshops...
January 8, 2018: Proceedings of the National Academy of Sciences of the United States of America
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