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https://www.readbyqxmd.com/read/27901041/bainbridge-ropers-syndrome-caused-by-loss-of-function-variants-in-asxl3-a-recognizable-condition
#1
Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck-Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M Strom, Hermann-Josef Lüdecke, Dagmar Wieczorek
Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features - postulated by Bainbridge et al. to be overlapping with Bohring-Opitz syndrome - were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. This condition was included in OMIM as 'Bainbridge-Ropers syndrome' (BRPS, #615485). To date, a total of nine individuals with BRPS have been published in the literature in four reports (Bainbridge et al...
November 30, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27901038/burden-assessment-in-caregivers-of-patients-with-home-artificial-nutrition-a-need-and-a-challenge
#2
R Villar-Taibo, M A Martínez-Olmos, D Bellido-Guerrero, A Calleja-Fernández, R Peinó-García, A Martís-Sueiro, E Camarero-González, V Ríos-Barreiro, P Cao-Sánchez, R Durán-Martínez, M-J Rodríguez-Iglesias, B Rodríguez-Blanco, J Rojo-Valdés
BACKGROUND/OBJECTIVES: Caregiving can be a stressful task with severe consequences on caregivers' health. Our aim was to evaluate the profile and the burden of caregivers of patients with home artificial nutrition (HAN) in our area. SUBJECTS/METHODS: We conducted a prospective observational study of patients who had started HAN over a period of a year (n=573) and their home caregivers (n=103). Epidemiological characteristics of the patients and the type of HAN were registered...
November 30, 2016: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/27897267/increasing-bmi-is-associated-with-reduced-expression-of-p-glycoprotein-abcb1-gene-in-the-human-brain-with-a-stronger-association-in-african-americans-than-caucasians
#3
J Vendelbo, R H Olesen, J K Lauridsen, J Rungby, J E Kleinman, T M Hyde, A Larsen
The efflux pump, p-glycoprotein, controls bioavailability and excretion of pharmaceutical compounds. In the blood-brain barrier, p-glycoprotein regulates the delivery of pharmaceutical substances to the brain, influencing efficacy and side effects for some drugs notably antipsychotics. Common side effects to antipsychotics include obesity and metabolic disease. Polymorphisms in the ABCB1 gene coding for p-glycoprotein are associated with more severe side effects to neuro-pharmaceuticals as well as weight gain, indicating a potential link between p-glycoprotein function and metabolic regulation...
November 29, 2016: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/27872676/progressive-and-self-limiting-neurodegenerative-disorders-in-africa-a-new-prominent-field-of-research-led-by-south-africa-but-without-strong-health-policy
#4
Brice Poreau
INTRODUCTION: Neurodegenerative disorders are involved in mortality and morbidity of every country. A high prevalence is estimated in Africa. Neurodegenerative disorders are defined by a progressive or self-limiting alteration of neurons implied in specific functional and anatomical functions. It encompasses a various range of clinical disorders from self-limiting to progressive. Focus on public health policies and scientific research is needed to understand the mechanisms to reduce this high prevalence...
2016: Pan African Medical Journal
https://www.readbyqxmd.com/read/27871436/editor-s-update-and-selected-articles-from-the-journal-of-the-neurological-sciences
#5
EDITORIAL
John D England
No abstract text is available yet for this article.
December 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27855720/pharmacological-interventions-for-agitation-in-patients-with-traumatic-brain-injury-protocol-for-a-systematic-review-and-meta-analysis
#6
David R Williamson, Anne Julie Frenette, Lisa Burry, Marc M Perreault, Emmanuel Charbonney, François Lamontagne, Marie-Julie Potvin, Jean-François Giguère, Sangeeta Mehta, Francis Bernard
BACKGROUND: Traumatic brain injury (TBI) is a worldwide leading cause of mortality and disability. Among TBI complications, agitation is a frequent behavioural problem. Agitation causes potential harm to patients and caregivers, interferes with treatments, leads to unnecessary chemical and physical restraints, increases hospital length of stay, delays rehabilitation, and impedes functional independence. Pharmacological treatments are often considered for agitation management following TBI...
November 17, 2016: Systematic Reviews
https://www.readbyqxmd.com/read/27854093/posterior-reversible-encephalopathy-syndrome-mimicking-brainstem-infarction-a-dilemma
#7
Tsung-Han Ho, Chia-Lin Tsai, Yaw-Don Hsu, Jiunn-Tay Lee, Fu-Chi Yang, Chia-Ching Hsu, Chun-Chieh Lin
PURPOSE: We had recently reported one case at American Journal of Emergency Medicine about centralvariant posterior reversible encephalopathy syndrome (PRES) in an 84-year-old woman with an initial misdiagnosis as central pontine myelinolysis (CPM). Here, we introduce another case of centralvariant PRES in a 49-year-old man mimicking as acute brainstem infarction in the cranial computed tomography (CT) findings. CASE REPORT: A 49-year-old man was admitted to the emergency department with a 5-day history of vertigo, cognitive decline, and difficulty in walking...
June 15, 2016: Acta Neurologica Taiwanica
https://www.readbyqxmd.com/read/27853666/outcome-instruments-in-spinal-trauma-surgery-a-bibliometric-analysis
#8
REVIEW
Holt S Cutler, Javier Z Guzman, James Connolly, Motasem Al Maaieh, Branko Skovrlj, Samuel K Cho
Study Design Literature review. Objective To identify outcomes instruments used in spinal trauma surgery over the past decade, their frequency of use, and usage trends. Methods Five top orthopedic journals were reviewed from 2004 to 2013 for clinical studies of surgical intervention in spinal trauma that reported patient-reported outcome instruments use or neurologic function scale use. Publication year, level of evidence (LOE), and outcome instruments were collected for each article and analyzed. Results A total of 58 studies were identified...
December 2016: Global Spine Journal
https://www.readbyqxmd.com/read/27833198/a-philosophical-assessment-of-tk-s-autopsy-report-implications-for-the-debate-over-the-brain-death-criteria
#9
Nicanor Pier Giorgio Austriaco
: In recent years, there has been increasing evidence that the totally brain-dead patient is able to continue to live and to maintain some integrated functions, albeit with the necessary assistance of mechanical ventilation. Several years ago, the autopsy report of a totally brain-dead patient named TK who was kept on life support for nearly twenty years was published in the Journal of Child Neurology. He remains the individual kept on life support the longest after suffering total brain failure...
May 2016: Linacre Quarterly
https://www.readbyqxmd.com/read/27810972/immunoglobulin-in-the-treatment-of-encephalitis-ignite-protocol-for-a-multicentre-randomised-controlled-trial
#10
M A Iro, M Sadarangani, M Absoud, W K Chong, C A Clark, A Easton, V Gray, R Kneen, M Lim, M Pike, T Solomon, A Vincent, L Willis, L-M Yu, A J Pollard
INTRODUCTION: Infectious and immune-mediated encephalitides are important but under-recognised causes of morbidity and mortality in childhood, with a 7% death rate and up to 50% morbidity after prolonged follow-up. There is a theoretical basis for ameliorating the immune response with intravenous immunoglobulin (IVIG), which is supported by empirical evidence of a beneficial response following its use in the treatment of viral and autoimmune encephalitis. In immune-mediated encephalitis, IVIG is often used after a delay (by weeks in some cases), while diagnosis is confirmed...
November 3, 2016: BMJ Open
https://www.readbyqxmd.com/read/27809925/guided-self-help-interventions-for-mental-health-disorders-in-children-with-neurological-conditions-study-protocol-for-a-pilot-randomised-controlled-trial
#11
Sophie Bennett, Isobel Heyman, Anna Coughtrey, Jess Simmonds, Sophia Varadkar, Terence Stephenson, Margaret DeJong, Roz Shafran
BACKGROUND: Rates of mental health disorders are significantly greater in children with physical illnesses than in physically well children. Children with neurological conditions, such as epilepsy, are known to have particularly high rates of mental health disorders. Despite this, mental health problems in children with neurological conditions have remained under-recognised and under-treated in clinical settings. Evidence-based guided self-help interventions are efficacious in reducing symptoms of mental health disorders in children, but their efficacy in reducing symptoms of common mental health disorders in children with neurological conditions has not been investigated...
November 4, 2016: Trials
https://www.readbyqxmd.com/read/27798028/neurological-complications-of-sickle-cell-disease-in-africa-protocol-for-a-systematic-review
#12
Michel K Mengnjo, Joseph Kamtchum-Tatuene, Nicolas Nicastro, Jean Jacques N Noubiap
INTRODUCTION: Sickle cell disease (SCD) is highly prevalent in Africa. Considered as a public health problem, it is associated with high morbidity and mortality. Neurological complications of SCD can cause significant disability with important socioeconomic and psychological impact on the patients and their families, and can even lead to death if not properly managed. There are important knowledge gaps regarding the burden of neurological complications of SCD in African populations. We propose to conduct the first systematic review to summarise the epidemiological data available on neurological complications of SCD in Africa...
October 19, 2016: BMJ Open
https://www.readbyqxmd.com/read/27787486/minimally-invasive-cervical-spine-surgery
#13
Branko Skovrlj, Sheeraz A Qureshi
AIM: Degenerative disorders of the cervical spine requiring surgical intervention have become increasingly more common over the past decade. Traditionally, open surgical approaches have been the mainstay of surgical treatment. More commonly, minimally invasive techniques are being developed with the intent to decrease surgical morbidity and iatrogenic spinal instability. This study will review four minimally invasive cervical techniques that have been increasingly utilized in the treatment of degenerative cervical spine disease...
October 27, 2016: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/27782104/homozygous-syne1-mutation-causes-congenital-onset-of-muscular-weakness-with-distal-arthrogryposis-a-genotype-phenotype-correlation
#14
Matthias Baumann, Elisabeth Steichen-Gersdorf, Birgit Krabichler, Britt-Sabina Petersen, Ulrike Weber, Wolfgang M Schmidt, Johannes Zschocke, Thomas Müller, Reginald E Bittner, Andreas R Janecke
The exceptionally large SYNE1 (spectrin repeat-containing nuclear envelope protein 1) gene encodes different nesprin-1 isoforms, which are differentially expressed in striated muscle and in cerebellar and cerebral neurons. Nesprin-1 isoforms can function in cytoskeletal, nuclear, and vesicle anchoring. SYNE1 variants have been associated with a spectrum of neurological and neuromuscular disease. Homozygosity mapping combined with exome sequencing identified a disease-causing nonsense mutation in the ultimate exon of full-length SYNE1 transcript in an 8-year-old boy with distal arthrogryposis and muscular hypotonia...
October 26, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27780988/a-bibliometric-assessment-of-global-ice-bucket-challenge-amyotrophic-lateral-sclerosis-research
#15
Shri Ram
BACKGROUND: This study is a quantitative and qualitative assessment of the global research trends on amyotrophic lateral sclerosis (ALS) (popularly known as Ice Bucket Challenge), through related literatures retrieved from SCOPUS multidisciplinary database for the period 1974-2013. PURPOSE: This study is aimed at analyzing the literature on ALS in terms of document type, language, annual growth, productive country, journal, authors, subject, and most cited articles...
October 2016: Annals of Neurosciences
https://www.readbyqxmd.com/read/27767396/a-systematic-review-of-30-day-readmission-after-cranial-neurosurgery
#16
Michael D Cusimano, Iryna Pshonyak, Michael Y Lee, Gabriela Ilie
OBJECTIVE The 30-day readmission rate has emerged as an important marker of the quality of in-hospital care in several fields of medicine. This review aims to summarize available research reporting readmission rates after cranial procedures and to establish an association with demographic, clinical, and system-related factors and clinical outcomes. METHODS The authors conducted a systematic review of several databases; a manual search of the Journal of Neurosurgery, Neurosurgery, Acta Neurochirurgica, Canadian Journal of Neurological Sciences; and the cited references of the selected articles...
October 21, 2016: Journal of Neurosurgery
https://www.readbyqxmd.com/read/27763629/risk-factors-for-persistent-disability-in-children-with-obstetric-brachial-plexus-palsy
#17
S Zuarez-Easton, N Zafran, G Garmi, J Hasanein, S Edelstein, R Salim
OBJECTIVE: Obstetric brachial plexus palsy (OBPP) at birth, is a serious neurologic injury that may lead to a long lasting disability. We aimed to examine the occurrence and risk factors associated with disability lasting >1 year. STUDY DESIGN: A retrospective cohort study conducted between 1993 and 2012 included individuals with diagnosis of OBPP at birth. Affected individual's motor function was evaluated by a direct physical exam based on a muscle grading system of the limb, shoulder, elbow and hand...
October 20, 2016: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/27759881/endodontic-procedures-for-retreatment-of-periapical-lesions
#18
REVIEW
Massimo Del Fabbro, Stefano Corbella, Patrick Sequeira-Byron, Igor Tsesis, Eyal Rosen, Alessandra Lolato, Silvio Taschieri
BACKGROUND: When primary root canal therapy fails, periapical lesions can be retreated with or without surgery. Root canal retreatment is a non-surgical procedure that involves removal of root canal filling materials from the tooth, followed by cleaning, shaping and obturating of the canals. Root-end resection is a surgical procedure that involves exposure of the periapical lesion through an osteotomy, surgical removal of the lesion, removal of part of the root-end tip, disinfection and, commonly, retrograde sealing or filling of the apical portion of the remaining root canal...
October 19, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27754915/journal-club-exacerbation-of-headache-during-dihydroergotamine-for-chronic-migraine-does-not-alter-outcome
#19
Yohannes W Woldeamanuel, Meabh O'Hare, Danielle D DeSouza, Robert P Cowan
Transient headache exacerbation during IV dihydroergotamine (DHE) therapy of migraine may prompt clinicians to prematurely discontinue DHE therapy, potentially depriving patients of the full benefit of DHE infusion. In a recent Neurology® article, Eller et al. evaluated whether or not worsening headache during DHE infusion was associated with suboptimal medium-term headache outcomes.
October 18, 2016: Neurology
https://www.readbyqxmd.com/read/27697876/community-based-rehabilitation-training-after-stroke-protocol-of-a-pilot-randomised-controlled-trial-retrain
#20
Sarah G Dean, Leon Poltawski, Anne Forster, Rod S Taylor, Anne Spencer, Martin James, Rhoda Allison, Shirley Stevens, Meriel Norris, Anthony I Shepherd, Raff Calitri
INTRODUCTION: The Rehabilitation Training (ReTrain) intervention aims to improve functional mobility, adherence to poststroke exercise guidelines and quality of life for people after stroke. A definitive randomised controlled trial (RCT) is required to assess the clinical and cost-effectiveness of ReTrain, which is based on Action for Rehabilitation from Neurological Injury (ARNI). The purpose of this pilot study is to assess the feasibility of such a definitive trial and inform its design...
October 3, 2016: BMJ Open
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