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https://www.readbyqxmd.com/read/28805580/tourette-syndrome-and-chronic-tic-disorders-the-clinical-spectrum-beyond-tics
#1
Davide Martino, Christos Ganos, Tamara M Pringsheim
The clinical surveillance and active management of Tourette syndrome (TS) and other primary chronic tic disorders cannot be limited to tics, as these patients manifest a spectrum of sensory-, behavioral-, cognitive-, and sleep-related problems that have a major impact on their functioning and quality of life, influencing enormously clinical decision making on a routine basis. The sensory phenomena of primary tic disorders consist of premonitory urges and heightened sensitivity to external somatosensory and interoceptive stimuli...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28805194/-lung-cancer-and-copd-growing-clinical-problem
#2
EDITORIAL
Michal Tyl, Joanna Domagała-Kulawik
A spread of the addiction of tobacco smoking is valued on near 1 billion of people in the world, that involves growing number of morbidity and mortality by the reason of smoke related diseases. Lung cancer and chronic obstructive pulmonary disease (COPD) are the most serious and incurable diseases which are leading to a permanent disability as well as to premature death. There are factors that naturally increase the vulnerability of an individual on the coincidence of above disorders, such as pathophysiological conditions, systemic inflammation, bronchitis, emphysema, respiratory obstructive disease and precise genetic predispositions for COPD and lung cancer...
July 21, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28804736/urokinase-type-plasminogen-activator-upa-and-its-receptor-upar-promote-neurorepair-in-the-ischemic-brain
#3
Paola Merino, Ariel Diaz, Manuel Yepes
Despite the fact that ischemic stroke has been considered a leading cause of mortality in the world, recent advances in our understanding of the pathophysiological mechanisms underlying the ischemic injury and the treatment of acute ischemic stroke patients have led to a sharp decrease in the number of stroke deaths. However, this decrease in stroke mortality has also led to an increase in the number of patients that survive the acute ischemic injury with different degrees of disability. Unfortunately, to this date we do not have an effective therapeutic strategy to promote neurological recovery in these growing population of stroke survivors...
2017: Receptors & Clinical Investigation
https://www.readbyqxmd.com/read/28801840/tobacco-related-carcinogenesis-in-head-and-neck-cancer
#4
Ashok R Jethwa, Samir S Khariwala
Head and neck cancer (head and neck squamous cell carcinoma (HNSCC)) is a devastating disease. Patients require intensive treatment that is often disfiguring and debilitating. Those who survive are often left with poor speech articulation, difficulties in chewing and swallowing, and cosmetic disfigurement, as well as loss of taste. Furthermore, given that HNSCC survivors are frequently disabled and unable to return to work, the economic and societal costs associated with HNSCC are massive. HNSCC is one of many cancers that are strongly associated with tobacco use...
August 12, 2017: Cancer Metastasis Reviews
https://www.readbyqxmd.com/read/28801146/bh4-deficiency-identified-in-a-neonatal-screening-program-for-hyperphenylalaninemia
#5
Cezar Antonio Abreu de Souza, Michelle Rosa Andrade Alves, Rosangelis Del Lama Soares, Viviane de Cássia Kanufre, Valéria de Melo Rodrigues, Rocksane de Carvalho Norton, Ana Lúcia Pimenta Starling, Marcos José Burle de Aguiar
OBJECTIVES: To show the general prevalence and to characterize tetrahydrobiopterin (BH4) deficiencies with hyperphenylalaninemia, identified by the Neonatal Screening Program of the State of Minas Gerais (NSPMG). METHODS: Descriptive study of patients with BH4 deficiency identified by the NSPMG. RESULTS: The prevalence found was 2.1 for 1,000,000 live births, with a frequency of 1.71% among hyperphenylalaninemias. There were four cases (40%) with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, three with GTP cyclohydrolase I - autosomal recessive form (GTPCH I) deficiency, and three with dihydropteridine reductase (DHPR) deficiency (30% each)...
August 8, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28800066/treatment-of-the-first-acute-relapse-following-therapeutic-plasma-exchange-in-formerly-glucocorticosteroid-unresponsive-multiple-sclerosis-patients-a-multicenter-study-to-evaluate-glucocorticosteroid-responsiveness
#6
Johannes Ehler, Stephan Blechinger, Paulus S Rommer, Sebastian Koball, Steffen Mitzner, Hans-Peter Hartung, Fritz Leutmezer, Martin Sauer, Uwe K Zettl
Therapeutic options to treat multiple sclerosis (MS) relapses comprise glucocorticosteroids (GCS) as first-line and therapeutic plasma exchange (TPE) as second-line treatments in GCS-unresponsive patients. No guidelines exist for the treatment of another relapse following TPE. We retrospectively analyzed the responsiveness to GCS in a subsequent relapse following TPE in previously GCS-unresponsive MS patients. Thirty-seven patients with GCS-unresponsive MS relapses received TPE (relapse A). All patients developed another relapse after the completion of TPE and received GCS again (relapse B)...
August 11, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28799527/recent-advances-in-technique-and-clinical-outcomes-of-minimally-invasive-spine-surgery-in-adult-scoliosis
#7
REVIEW
Gang Liu, Sen Liu, Yu-Zhi Zuo, Qi-Yi Li, Zhi-Hong Wu, Nan Wu, Ke-Yi Yu, Gui-Xing Qiu
OBJECTIVE: Conventional open spinal surgery of adult scoliosis can be performed from anterior, posterior, or combined approach. Minimally invasive spine surgery (MISS) was developed for the purpose of reducing the undesirable effects and complications. This review aimed to make a brief summary of recent studies of the approach and clinical outcomes of MISS in adult scoliosis. DATA SOURCES: We conducted a systematic search from PubMed, Medline, EMBASE, and other literature databases to collect reports of surgical methods and clinical outcomes of MISS in treatment of adult scoliosis...
August 9, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28796573/development-of-exon-skipping-therapies-for-duchenne-muscular-dystrophy-a-critical-review-and-a-perspective-on-the-outstanding-issues
#8
Annemieke Aartsma-Rus, Volker Straub, Robert Hemmings, Manuel Haas, Gabriele Schlosser-Weber, Violeta Stoyanova-Beninska, Eugenio Mercuri, Francesco Muntoni, Bruno Sepodes, Elizabeth Vroom, Pavel Balabanov
Duchenne muscular dystrophy (DMD) is a rare, severe, progressive muscle-wasting disease leading to disability and premature death. Patients lack the muscle membrane-stabilizing protein dystrophin. Antisense oligonucleotide (AON)-mediated exon skipping is a therapeutic approach that aims to induce production of partially functional dystrophins. Recently, an AON targeting exon 51 became the first of its class to be approved by the United States regulators [Food and Drug Administration (FDA)] for the treatment of DMD...
August 10, 2017: Nucleic Acid Therapeutics
https://www.readbyqxmd.com/read/28796006/novel-insights-of-disability-assessment-in-adult-myositis
#9
Hector Fabricio Espinosa-Ortega, Mariana Moreno-Ramirez, Helene Alexanderson
PURPOSE OF REVIEW: To review the novel development of standardized clinical outcome measures used in adult patients with idiopathic inflammatory myopathies (IIMs). A further aim was to determine what aspects of IIM are covered by these outcome measures according to the International Classification of Functioning, Disability and Health (ICF). RECENT FINDINGS: The sporadic inclusion body myositis functional assessment (sIFA) is the first diagnosis-specific patient-driven patient-reported outcome measure...
August 8, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28791670/xingnao-kaiqiao-acupuncture-combined-with-angong-niuhuang-wan-for-a-patient-under-persistent-vegetative-state-a-case-report
#10
Hujie Song, Xiao Chen, Yalan Yu, Ling Zhang
Persistent vegetative state (PVS) is a clinical condition wherein the cerebral cortex loses its function although brain stem function remains relatively intact. It has high mortality and disability rates. Although treatment for PVS is extensively studied in developed countries, little breakthrough has been made. In China, many PVS patients who were treated with traditional Chinese medicine (TCM) and acupuncture therapy were reported to have regained consciousness. In our department, we have been investigating TCM diagnosis and treatment methods for PVS for many years and have summarized a set of curative programs...
August 8, 2017: Frontiers of Medicine
https://www.readbyqxmd.com/read/28790872/cognitive-behavioral-therapy-for-patients-with-irritable-bowel-syndrome-current-insights
#11
REVIEW
Sarah W Kinsinger
Irritable bowel syndrome (IBS) is a chronic gastrointestinal (GI) condition associated with significant health care utilization and quality-of-life impairment. Latest research indicates that the brain-gut axis plays a key role in the disorder, and the presence of psychological factors and central processing deficits contribute to symptom severity and disability. Psychological therapies as a whole have demonstrated good efficacy in reducing the severity of IBS symptoms. Cognitive-behavioral therapy (CBT) has been tested most rigorously in multiple randomized controlled trials and consistently demonstrates significant and durable effects on IBS symptoms and quality of life...
2017: Psychology Research and Behavior Management
https://www.readbyqxmd.com/read/28783305/core-crosslinked-nanoparticles-reduce-neuroinflammation-and-improve-outcome-in-a-mouse-model-of-traumatic-brain-injury
#12
Dasom Yoo, Alexander W Magsam, Abby M Kelly, Patrick S Stayton, Forrest M Kievit, Anthony J Convertine
Traumatic brain injury (TBI) is the leading cause of death and disability in children and young adults, yet there are currently no treatments available that prevent the secondary spread of damage beyond the initial insult. The chronic progression of this secondary injury is in part caused by the release of reactive oxygen species (ROS) into surrounding normal brain. Thus, treatments that can enter the brain and reduce the spread of ROS should improve outcome from TBI. Here a highly versatile, reproducible, and scalable method to synthesize core-crosslinked nanoparticles (NPs) from polysorbate 80 (PS80) using a combination of thiol-ene and thiol-Michael chemistry is described...
August 7, 2017: ACS Nano
https://www.readbyqxmd.com/read/28780745/effectiveness-and-safety-of-dimethyl-fumurate-treatment-in-relapsing-multiple-sclerosis-patients-a-real-world-evidence
#13
Raed Alroughani, Samar Farouk Ahmed, Raed Behbehani, Jasem Al-Hashel
INTRODUCTION: Dimethyl fumurate (DMF) has been recently approved as a disease-modifying therapy for the treatment of multiple sclerosis (MS). Post-marketing studies are important to confirm what was established in clinical trials. OBJECTIVE: To evaluate effectiveness and safety of DMF and to measure the occurrence of lymphopenia in a cohort of MS patients in a clinical setting. METHODS: Using the national MS registry, we prospectively assessed relapsing MS patients who had been prescribed DMF for at least 6 months...
August 5, 2017: Neurology and Therapy
https://www.readbyqxmd.com/read/28777499/alg13-cdg-in-a-male-with-seizures-normal-cognitive-development-and-normal-transferrin-isoelectric-focusing
#14
Therese E Gadomski, Melody Bolton, Majid Alfadhel, Chris Dvorak, Olalekan A Ogunsakin, Stephen L Nelson, Eva Morava
ALG13-CDG has been recently discovered as a disorder of severe developmental, intellectual and speech disability, microcephaly, visual abnormalities, seizures, hepatomegaly, coagulation abnormalities, and abnormal serumtransferrin isoelectric focusing in serum. A male with seizures, delayed motor, and speech development, but normal cognition carried a hemizygous, predicted pathogenic ALG13 variant (p.E463G). N-glycosylation studies in plasma were normal. ICAM-1 expression was decreased in patient fibroblasts, supporting the variant's pathogenicity...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28777172/narcolepsy-and-other-central-hypersomnias
#15
Yves Dauvilliers, Lucie Barateau
PURPOSE OF REVIEW: This article focuses on the clinical presentation, pathophysiology, diagnosis, differential diagnosis, and management of narcolepsy type 1 and narcolepsy type 2, idiopathic hypersomnia, Kleine-Levin syndrome, and other central disorders of hypersomnolence, as defined in the International Classification of Sleep Disorders, Third Edition (ICSD-3). RECENT FINDINGS: In ICSD-3, the names of some central disorders of hypersomnolence have been changed: narcolepsy with cataplexy and narcolepsy without cataplexy have been renamed narcolepsy type 1 and narcolepsy type 2, respectively...
August 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28776302/management-of-chikungunya-arthritis
#16
J Kennedy Amaral Pereira, Robert T Schoen
Chikungunya fever (CHIKF) is an emerging viral infection that has spread widely, along with its Aedes vectors, throughout the tropics and beyond, causing explosive epidemics of both acute illness and persistent disabling arthritis. There is an urgent need to mitigate the devastating impact of this illness, through vector control, personal protection, and possibly vaccine development. There is also a need to improve treatment for both acute illness and chronic arthritis. In this review, we will review the emergence of CHIK, what is known about pathogenesis and clinical manifestations, and then focus on current understanding of how to treat individual patients, in particular, those who develop chronic arthritis...
August 3, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28774580/advancing-imaging-technologies-for-patients-with-spinal-pain-with-a-focus-on-whiplash-injury
#17
James M Elliott, Mark J Hancock, Rebecca J Crawford, Andrew C Smith, David M Walton
BACKGROUND CONTEXT: Radiological observations of soft-tissue changes that may relate to clinical symptoms in patients with traumatic and non-traumatic spinal disorders are highly controversial. Studies are often of poor quality and findings inconsistent. A plethora of evidence suggests some pathoanatomical findings from traditional imaging applications are common in asymptomatic participants across the life span, which further questions the diagnostic, prognostic, and theranostic value of traditional imaging...
July 31, 2017: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/28761372/application-of-advanced-biomechanical-methods-in-studying-low-back-pain-recent-development-in-estimation-of-lower-back-loads-and-large-array-surface-electromyography-and-findings
#18
REVIEW
Babak Bazrgari, Ting Xia
Low back pain (LBP) is a major public health problem and the leading disabling musculoskeletal disorder globally. A number of biomechanical methods using kinematic, kinetic and/or neuromuscular approaches have been used to study LBP. In this narrative review, we report recent developments in two biomechanical methods: estimation of lower back loads and large-array surface electromyography (LA-SEMG) and the findings associated with LBP. The ability to estimate lower back loads is very important for the prevention and the management of work-related low back injuries based on the mechanical loading model as one category of LBP classification...
2017: Journal of Pain Research
https://www.readbyqxmd.com/read/28758587/atypical-form-of-adult-onset-still-s-disease-with-distal-interphalangeal-joints-involvement
#19
Safaa Belghali, Nejla El Amri, Khadija Baccouche, Sadok Laataoui, Monia Bouzaoueche, Hela Zeglaoui, Elyes Bouajina
Distal interphalangeal (DIP) joints involvement in the adult-onset Still's disease (ASD) has been described in some publications but is rarely severe. We report severe DIP joints damages in a young patient with ASD. A 22 years old patient presented to our department complaining of inflammatory joints pain associated with prolonged fever and cutaneous rash. Physical examination identified polyarthritis and hepatosplenomegaly but no lymphadenopathies. After an extensive screening for neoplastic, infectious or hematologic diseases, the patient was finally diagnosed with ASD...
July 28, 2017: Current Rheumatology Reviews
https://www.readbyqxmd.com/read/28752410/infections-up-to-76%C3%A2-days-after-stroke-increase-disability-and-death
#20
Annastazia E Learoyd, Lisa Woodhouse, Laurence Shaw, Nikola Sprigg, Daniel Bereczki, Eivind Berge, Valeria Caso, Hanne Christensen, Ronan Collins, Anna Czlonkowska, Anwar El Etribi, Tracy D Farr, John Gommans, Ann-Charlotte Laska, George Ntaios, Serefnur Ozturk, Stuart J Pocock, Kameshwar Prasad, Joanna M Wardlaw, Kevin C Fone, Philip M Bath, Rebecca C Trueman
Early infection after stroke is associated with a poor outcome. We aimed to determine whether delayed infections (up to 76 days post-stroke) are associated with poor outcome at 90 days. Data came from the international Efficacy of Nitric Oxide Stroke (ENOS, ISRCTN99414122) trial. Post hoc data on infections were obtained from serious adverse events reports between 1 and 76 days following stroke in this large cohort of patients. Regression models accounting for baseline covariates were used to analyse fatalities and functional outcomes (modified Rankin Scale (mRS), Barthel Index, Euro-Qol-5D) at 90 days, in patients with infection compared to those without infection...
July 27, 2017: Translational Stroke Research
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