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https://www.readbyqxmd.com/read/28915908/advances-in-paediatrics-in-2016-current-practices-and-challenges-in-allergy-autoimmune-diseases-cardiology-endocrinology-gastroenterology-infectious-diseases-neonatology-nephrology-neurology-nutrition-pulmonology
#1
REVIEW
Carlo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Silvia Montella, Sergio Bernasconi
This review reports main progresses in various pediatric issues published in Italian Journal of Pediatrics and in international journals in 2016. New insights in clinical features or complications of several disorders may be useful for our better understanding. They comprise severe asthma, changing features of lupus erythematosus from birth to adolescence, celiac disease, functional gastrointestinal disorders, Moebius syndrome, recurrent pneumonia. Risk factors for congenital heart defects, Kawasaki disease have been widely investigated...
September 16, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28893311/evaluation-of-pre-symptomatic-nitisinone-treatment-on-long-term-outcomes-in-tyrosinemia-type-1-patients-a-systematic-review
#2
REVIEW
Julia Geppert, Chris Stinton, Karoline Freeman, Hannah Fraser, Aileen Clarke, Samantha Johnson, Paul Sutcliffe, Sian Taylor-Phillips
BACKGROUND: Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal without treatment. With medication (nitisinone) and dietary restrictions outcomes are improved. We conducted a systematic review to investigate if treatment with nitisinone following screening provides better long-term outcomes than treatment with nitisinone following symptomatic detection. METHODS: We searched Web of Science, Medline, Pre-Medline, and Embase up to 23rd September 2016 for journal articles comparing clinical outcomes of TYR1 patients receiving earlier versus later nitisinone treatment...
September 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28882919/a-randomised-controlled-cross-over-double-blind-pilot-study-protocol-on-thc-cbd-oromucosal-spray-efficacy-as-an-add-on-therapy-for-post-stroke-spasticity
#3
Lucio Marinelli, Maurizio Balestrino, Laura Mori, Luca Puce, Gian Marco Rosa, Laura Giorello, Antonio Currà, Francesco Fattapposta, Carlo Serrati, Carlo Gandolfo, Giovanni Abbruzzese, Carlo Trompetto
INTRODUCTION: Stroke is the most disabling neurological disorder and often causes spasticity. Transmucosal cannabinoids (tetrahydrocannabinol and cannabidiol (THC:CBD), Sativex) is currently available to treat spasticity-associated symptoms in patients with multiple sclerosis. Cannabinoids are being considered useful also in the treatment of pain, nausea and epilepsy, but may bear and increased risk for cardiovascular events. Spasticity is often assessed with subjective and clinical rating scales, which are unable to measure the increased excitability of the monosynaptic reflex, considered the hallmark of spasticity...
September 7, 2017: BMJ Open
https://www.readbyqxmd.com/read/28877841/cognitive-behaviour-therapy-for-health-anxiety-in-medical-patients-champ-a-randomised-controlled-trial-with-outcomes-to-5-years
#4
Peter Tyrer, Paul Salkovskis, Helen Tyrer, Duolao Wang, Michael J Crawford, Simon Dupont, Sylvia Cooper, John Green, David Murphy, Georgina Smith, Sharandeep Bhogal, Shaeda Nourmand, Valentina Lazarevic, Gemma Loebenberg, Rachel Evered, Stephanie Kings, Antoinette McNulty, Yvonne Lisseman-Stones, Sharon McAllister, Kofi Kramo, Jessica Nagar, Steven Reid, Rahil Sanatinia, Katherine Whittamore, Gemma Walker, Aaron Philip, Hilary Warwick, Sarah Byford, Barbara Barrett
BACKGROUND: Health anxiety is an under-recognised but frequent cause of distress that is potentially treatable, but there are few studies in secondary care. OBJECTIVE: To determine the clinical effectiveness and cost-effectiveness of a modified form of cognitive-behaviour therapy (CBT) for health anxiety (CBT-HA) compared with standard care in medical outpatients. DESIGN: Randomised controlled trial. SETTING: Five general hospitals in London, Middlesex and Nottinghamshire...
September 2017: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/28876538/mikl%C3%A3-s-bodanszky-award-lecture-advances-in-the-selective-targeting-of-protein-phosphatase-1-and-phosphatase-2a-with-peptides
#5
REVIEW
Maja Köhn
Protein phosphatase-1 and phosphatase-2A are two ubiquitously expressed enzymes known to catalyze the majority of dephosphorylation reactions on serine and threonine inside cells. They play roles in most cellular processes and are tightly regulated by regulatory subunits in holoenzymes. Their misregulation and malfunction contribute to disease development and progression, such as in cancer, diabetes, viral infections, and neurological as well as heart diseases. Therefore, targeting these phosphatases for therapeutic use would be highly desirable; however, their complex regulation and high conservation of the active site have been major hurdles for selectively targeting them in the past...
October 2017: Journal of Peptide Science: An Official Publication of the European Peptide Society
https://www.readbyqxmd.com/read/28866067/fostering-student-interest-in-neurological-surgery-the-university-of-pittsburgh-experience
#6
Ahmed Kashkoush, Rafey Feroze, Stephanie Myal, Arpan V Prabhu, Alexandra Sansosti, Daniel Tonetti, Nitin Agarwal
INTRODUCTION: Early involvement and research in neurosurgery can increase chances for medical students to successfully matriculate into residency. This study reports the creation of a Neurological Surgery Interest Group (NSIG) at the University of Pittsburgh School of Medicine and shares its activities over two academic years. METHODS: In October 2014, the University of Pittsburgh School of Medicine's NSIG was created to augment medical student interest in neurosurgery...
August 30, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28858986/sensory-phenotype-and-risk-factors-for-painful-diabetic-neuropathy-a-cross-sectional-observational-study
#7
Jana Raputova, Iva Srotova, Eva Vlckova, Claudia Sommer, Nurcan Uceyler, Frank Birklein, Heike L Rittner, Cora Rebhorn, Blanka Adamova, Ivana Kovalova, Eva Kralickova Nekvapilova, Lucas Forer, Jana Belobradkova, Jindrich Olsovsky, Pavel Weber, Ladislav Dusek, Jiri Jarkovsky, Josef Bednarik
Different sensory profiles in diabetic distal symmetrical sensory-motor polyneuropathy (DSPN) may be associated with pain and the responsiveness to analgesia. We aimed to characterize sensory phenotypes of patients with painful and painless diabetic neuropathy and to assess demographic, clinical, metabolic, and electrophysiological parameters related to the presence of neuropathic pain in a large cohort of well-defined DSPN subjects.This observational cross-sectional multi-center cohort study (performed as part of the ncRNAPain EU consortium) of 232 subjects with non-painful (n=74) and painful (n=158) DSPN associated with diabetes mellitus of type 1 and 2 (median age 63 years, range 21-87 years; 92 women) comprised detailed history taking, laboratory tests, neurological examination, quantitative sensory testing, nerve conduction studies, and neuropathy severity scores...
August 3, 2017: Pain
https://www.readbyqxmd.com/read/28838904/managing-the-transition-mantra-a-resource-for-persons-with-secondary-progressive-multiple-sclerosis-and-their-health-professionals-protocol-for-a-mixed-methods-study-in-italy
#8
Ambra Mara Giovannetti, Andrea Giordano, Erika Pietrolongo, Paolo Confalonieri, Giovanna De Luca, Carla Tortorella, Maria Trojano, Michele Messmer Uccelli, Valentina Torri Clerici, Lara Gitto, Sascha Köpke, Claudia Borreani, Christoph Heesen, Alessandra Solari
INTRODUCTION: 15 years after clinical onset, about 50% of patients with relapsing-remitting multiple sclerosis convert to secondary progressive multiple sclerosis (SPMS). Notwithstanding the importance of this transition, knowledge of the experiences and needs of patients and carers is fragmentary, and targeted interventions are not available. Managing the Transition to SPMS (ManTra) is a mixed methodology project to develop and test a user-led resource for newly diagnosed patients with SPMS...
August 23, 2017: BMJ Open
https://www.readbyqxmd.com/read/28832565/massive-sequencing-of-70-genes-reveals-a-myriad-of-missing-genes-or-mechanisms-to-be-uncovered-in-hereditary-spastic-paraplegias
#9
Sara Morais, Laure Raymond, Mathilde Mairey, Paula Coutinho, Eva Brandão, Paula Ribeiro, José Leal Loureiro, Jorge Sequeiros, Alexis Brice, Isabel Alonso, Giovanni Stevanin
Hereditary spastic paraplegias (HSP) are neurodegenerative disorders characterized by lower limb spasticity and weakness that can be complicated by other neurological or non-neurological signs. Despite a high genetic heterogeneity (>60 causative genes), 40-70% of the families remain without a molecular diagnosis. Analysis of one of the pioneer cohorts of 193 HSP families generated in the early 1990s in Portugal highlighted that SPAST and SPG11 are the most frequent diagnoses. We have now explored 98 unsolved families from this series using custom next generation sequencing panels analyzing up to 70 candidate HSP genes...
August 23, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28827277/an-investigation-of-the-predictors-of-photoprotection-and-uvr-dose-to-the-face-in-patients-with-xp-a-protocol-using-observational-mixed-methods
#10
Jessica Walburn, Robert Sarkany, Sam Norton, Lesley Foster, Myfanwy Morgan, Kirby Sainsbury, Vera Araújo-Soares, Rebecca Anderson, Isabel Garrood, Jakob Heydenreich, Falko F Sniehotta, Rute Vieira, Hans Christian Wulf, John Weinman
INTRODUCTION: Xeroderma pigmentosum (XP) is a rare genetic condition caused by defective nucleotide excision repair and characterised by skin cancer, ocular and neurological involvement. Stringent ultraviolet protection is the only way to prevent skin cancer. Despite the risks, some patients' photoprotection is poor, with a potentially devastating impact on their prognosis. The aim of this research is to identify disease-specific and psychosocial predictors of photoprotection behaviour and ultraviolet radiation (UVR) dose to the face...
August 21, 2017: BMJ Open
https://www.readbyqxmd.com/read/28813204/prefrontal-cortex-and-neurological-impairments-of-active-thought
#11
Tim Shallice, Lisa Cipolotti
This article reviews the effects of lesions to the frontal cortex on the ability to carry out active thought, namely, to reason, think flexibly, produce strategies, and formulate and realize plans.Wediscuss how and why relevant neuropsychological studies should be carried out. The relationships between active thought and both intelligence and language are considered. The following basic processes necessary for effective active thought are reviewed: concentration, set switching, inhibiting potentiated responses, and monitoring and checking...
August 16, 2017: Annual Review of Psychology
https://www.readbyqxmd.com/read/28804757/one-aptamer-two-functions-the-full-length-aptamer-inhibits-ampa-receptors-while-the-short-one-inhibits-both-ampa-and-kainate-receptors
#12
William J Jaremko, Zhen Huang, Wei Wen, Andrew Wu, Nicholas Karl, Li Niu
AMPA and kainate receptors, along with NMDA receptors, are distinct subtypes of glutamate ion channels. Excessive activity of AMPA and kainate receptors has been implicated in neurological diseases, such as epilepsy and neuropathic pain. Antagonists that block their activities are therefore potential drug candidates. In a recent article in the Journal of Biological Chemistry by Jaremko et al. 2017, we have reported on the discovery and molecular characterization of an RNA aptamer of a dual functionality: the full-length RNA (101 nucleotide) inhibits AMPA receptors while the truncated or the short (55 nucleotide) RNA inhibits both the AMPA and kainate receptors...
2017: RNA & Disease
https://www.readbyqxmd.com/read/28801417/optic-nerve-sheath-diameter-sonography-for-the-diagnosis-of-increased-intracranial-pressure-a-systematic-review-and-meta-analysis-protocol
#13
Alex Koziarz, Niv Sne, Fraser Kegel, Waleed Alhazzani, Siddharth Nath, Jetan H Badhiwala, Timothy Rice, Paul Engels, Faidi Samir, Andrew Healey, Kamyar Kahnamoui, Laura Banfield, Sunjay Sharma, Kesava Reddy, Gregory W J Hawryluk, Andrew W Kirkpatrick, Saleh A Almenawer
INTRODUCTION: Increased intracranial pressure (ICP) is a significant neurological issue that may lead to permanent neurological sequelae. When evaluating patients with traumatic brain injury, it is crucial to identify those with high ICP in order to expedite ICP lowering measures and maintain adequate cerebral perfusion. Several measures are used to recognise patients with increased ICP including CT scan, MRI, ICP monitor, and lumbar puncture (LP). However, these tests can be invasive, associated with radiation exposure, contraindicated, or not readily available...
August 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/28742121/correction-relationship-of-mechanical-impact-magnitude-to-neurologic-dysfunction-severity-in-a-rat-traumatic-brain-injury-model
#14
Tsung-Hsun Hsieh, Jing-Wei Kang, Jing-Huei Lai, Ying-Zu Huang, Alexander Rotenberg, Kai-Yun Chen, Jia-Yi Wang, Shu-Yen Chan, Shih-Ching Chen, Yung-Hsiao Chiang, Chih-Wei Peng
[This corrects the article DOI: 10.1371/journal.pone.0178186.].
2017: PloS One
https://www.readbyqxmd.com/read/28729900/unravelling-functional-neurology-a-scoping-review-of-theories-and-clinical-applications-in-a-context-of-chiropractic-manual-therapy
#15
REVIEW
Anne-Laure Meyer, Amanda Meyer, Sarah Etherington, Charlotte Leboeuf-Yde
BACKGROUND: Functional Neurology (FN), a seemingly attractive treatment approach used by some chiropractors, proposes to have an effect on a multitude of conditions but some of its concepts are controversial. OBJECTIVES AND DESIGN: A scoping review was performed to describe, in the context of chiropractic manual therapy, 1) the FN theories, and 2) its clinical applications (i.e. its indications, examination procedures, treatment modalities, treatment plans, and clinical outcomes) using four sources: i) one key textbook, ii) the scientific peer-reviewed literature, iii) websites from chiropractors using FN, and iv) semi-structured interviews of chiropractors using FN...
2017: Chiropractic & Manual Therapies
https://www.readbyqxmd.com/read/28727834/systematic-review-outcome-reporting-bias-is-a-problem-in-high-impact-factor-neurology-journals
#16
Benjamin Howard, Jared T Scott, Mark Blubaugh, Brie Roepke, Caleb Scheckel, Matt Vassar
BACKGROUND: Selective outcome reporting is a significant methodological concern. Comparisons between the outcomes reported in clinical trial registrations and those later published allow investigators to understand the extent of selection bias among trialists. We examined the possibility of selective outcome reporting in randomized controlled trials (RCTs) published in neurology journals. METHODS: We searched PubMed for randomized controlled trials from Jan 1, 2010 -Dec 31, 2015 published in the top 3 impact factor neurology journals...
2017: PloS One
https://www.readbyqxmd.com/read/28725025/an-atypical-case-of-spg56-cyp2u1-related-spastic-paraplegia-presenting-with-delayed-myelination
#17
Gaku Minase, Satoko Miyatake, Shin Nabatame, Hiroshi Arai, Eriko Koshimizu, Takeshi Mizuguchi, Mitsuko Nakashima, Noriko Miyake, Hirotomo Saitsu, Toshinobu Miyamoto, Kazuo Sengoku, Naomichi Matsumoto
Hereditary spastic paraplegia (HSP) is a neurological disorder characterized by a progressive spasticity and muscle weakness of the lower limbs. It is divided into two subtypes, uncomplicated and complicated forms. Biallelic mutations in the cytochrome P450 2U1 gene (CYP2U1) are associated with spastic paraplegia type 56 (SPG56), manifesting both uncomplicated and complicated HSP. Accompanying clinical features include intellectual disability, dystonia, cerebellar ataxia, subclinical peripheral neuropathy, visual impairment, as well as abnormalities in brain magnetic resonance imaging...
July 20, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28718304/the-role-of-surgery-in-low-grade-gliomas-do-timing-and-extent-of-resection-matter
#18
Hugues Duffau
Hugues Duffau is a Professor and Chairman of the Neurosurgery Department in the Montpellier University Medical Center and Head of the INSERM 1051 Team "plasticity of the central nervous system, human stem cells and glial tumors" at the Institute for Neurosciences of Montpellier (France). He is an expert in the awake cognitive neurosurgery of slow-growing brain tumors, such as low-grade gliomas, a routine which he has developed since 20 years. His fundamental approach is centered on the concepts of the brain connectomics and neuroplasticity, breaking with the traditional localizationist view of cerebral processing...
July 18, 2017: CNS Oncology
https://www.readbyqxmd.com/read/28700042/posttraumatic-stress-disorder-a-serious-post-earthquake-complication
#19
Mudassir Farooqui, Syed A Quadri, Sajid S Suriya, Muhammad Adnan Khan, Muhammad Ovais, Zohaib Sohail, Samra Shoaib, Hassaan Tohid, Muhammad Hassan
Objectives: Earthquakes are unpredictable and devastating natural disasters. They can cause massive destruction and loss of life and survivors may suffer psychological symptoms of severe intensity. Our goal in this article is to review studies published in the last 20 years to compile what is known about posttraumatic stress disorder (PTSD) occurring after earthquakes. The review also describes other psychiatric complications that can be associated with earthquakes, to provide readers with better overall understanding, and discusses several sociodemographic factors that can be associated with post-earthquake PTSD...
April 2017: Trends in Psychiatry and Psychotherapy
https://www.readbyqxmd.com/read/28686063/accelerated-cognitive-aging-following-severe-traumatic-brain-injury-a-review
#20
Rodger Ll Wood
OBJECTIVE: The primary objective of this review was to examine relevant clinical and experimental literatures for information on the long-term cognitive impact of serious traumatic brain injury (TBI) with regard to the process of cognitive aging. METHOD: Online journal databases were queried for studies pertaining to cognitive aging in neurologically healthy populations, as well as the late cognitive effects of serious TBI. Additional studies were identified through searching bibliographies of related publications and using Google search engine...
July 7, 2017: Brain Injury: [BI]
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