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https://www.readbyqxmd.com/read/29228163/ethical-challenges-confronted-when-providing-nusinersen-treatment-for-spinal-muscular-atrophy
#1
Alyssa M Burgart, David Magnus, Holly K Tabor, Erin Daksha-Talati Paquette, Joel Frader, Jaqueline J Glover, Brian M Jackson, Charlotte H Harrison, David K Urion, Robert J Graham, John F Brandsema, Chris Feudtner
The US Food and Drug Administration's December 2016 approval of nusinersen for the treatment of patients with all subtypes of spinal muscular atrophy ushered in a new era for patients with spinal muscular atrophy, their families, and all those involved in their care. The extreme cost of the medication and the complicated logistical requirements for administering nusinersen via lumbar puncture have created practical challenges that raise important ethical considerations. We discuss 6 challenges faced at the institutional level in the United States: cost, limited evidence, informed consent, treatment allocation, fair distribution of responsibilities, and transparency with stakeholders...
December 11, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/29228130/acute-retroviral-syndrome-is-associated-with-high-viral-burden-cd4-depletion-and-immune-activation-in-systemic-and-tissue-compartments
#2
Trevor A Crowell, Donn J Colby, Suteeraporn Pinyakorn, James L K Fletcher, Eugène Kroon, Alexandra Schuetz, Shelly J Krebs, Bonnie M Slike, Louise Leyre, Nicolas Chomont, Linda L Jagodzinski, Irini Sereti, Netanya S Utay, Robin Dewar, Rungsun Rerknimitr, Nitiya Chomchey, Rapee Trichavaroj, Victor G Valcour, Serena Spudich, Nelson L Michael, Merlin L Robb, Nittaya Phanuphak, Jintanat Ananworanich
Background: Many individuals with acute HIV infection (AHI) experience acute retroviral syndrome (ARS), which is associated with adverse long-term clinical outcomes. We characterized clinical, virologic, and immunologic features of ARS and described the impact of early antiretroviral therapy (ART) initiation. Methods: Participants presenting for voluntary HIV testing were enrolled during AHI in Bangkok, Thailand. ARS was defined by ≥3 qualifying signs/symptoms...
December 7, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29226050/determinants-of-computed-tomography-head-scan-ordering-for-patients-with-low-risk-headache-in-the-emergency-department
#3
Meaghan J Mackenzie, Rashi Hiranandani, Dongmei Wang, Tak Fung, Eddy Lang
Background Many specialty societies have found that neuroimaging in headache is a low-value intervention for benign presentations. This study describes factors that influence Emergency Room (ER) physicians' adherence to Choosing Wisely (CW) recommendations for low-risk headache patients presenting to Calgary's Emergency Departments (EDs). Emergency medicine has yet to address imaging in headache as a CW topic; however, this study may inform that decision. Methods Data were retrospectively collected for all patients presenting to Calgary EDs with headaches from April 1, 2014 to March 31, 2016...
October 9, 2017: Curēus
https://www.readbyqxmd.com/read/29223694/atraumatic-versus-conventional-lumbar-puncture-needles-a-systematic-review-and-meta-analysis
#4
Siddharth Nath, Alex Koziarz, Jetan H Badhiwala, Waleed Alhazzani, Roman Jaeschke, Sunjay Sharma, Laura Banfield, Ashkan Shoamanesh, Sheila Singh, Farshad Nassiri, Wieslaw Oczkowski, Emilie Belley-Côté, Ray Truant, Kesava Reddy, Maureen O Meade, Forough Farrokhyar, Malgorzata M Bala, Fayez Alshamsi, Mette Krag, Itziar Etxeandia-Ikobaltzeta, Regina Kunz, Osamu Nishida, Charles Matouk, Magdy Selim, Andrew Rhodes, Gregory Hawryluk, Saleh A Almenawer
BACKGROUND: Atraumatic needles have been proposed to lower complication rates after lumbar puncture. However, several surveys indicate that clinical adoption of these needles remains poor. We did a systematic review and meta-analysis to compare patient outcomes after lumbar puncture with atraumatic needles and conventional needles. METHODS: In this systematic review and meta-analysis, we independently searched 13 databases with no language restrictions from inception to Aug 15, 2017, for randomised controlled trials comparing the use of atraumatic needles and conventional needles for any lumbar puncture indication...
December 6, 2017: Lancet
https://www.readbyqxmd.com/read/29223693/atraumatic-lumbar-puncture-needles-practice-needs-to-change
#5
Diederik van de Beek, Matthijs C Brouwer
No abstract text is available yet for this article.
December 6, 2017: Lancet
https://www.readbyqxmd.com/read/29222573/incidence-and-causes-of-overdiagnosis-of-optic-neuritis
#6
Leanne Stunkel, Nathan H Kung, Bradley Wilson, Collin M McClelland, Gregory P Van Stavern
Importance: Diagnostic error is an important source of medical error. Overdiagnosis of optic neuritis may prompt unnecessary and costly diagnostic tests, procedures, and treatments. Objective: To assess the incidence of and characterize factors contributing to overdiagnosis of acute optic neuritis. Design, Setting, and Participants: In this retrospective clinic-based cross-sectional study of new patient encounters, 122 patients referred for acute optic neuritis at a university-based Midwestern neuro-ophthalmology clinic between January 2014 and October 2016 were studied...
December 7, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29220639/early-lumbar-puncture-and-risk-of-intraventricular-hemorrhage-in-very-low-birth-weight-infants
#7
Daniela Testoni, Christoph P Hornik, Ruth Guinsburg, Reese H Clark, Rachel G Greenberg, Daniel K Benjamin, P Brian Smith
BACKGROUND: Lumbar puncture (LP) is the gold standard for diagnosing meningitis; however it is unknown whether early LP (≤3days of life) is associated with increased risk of intraventricular hemorrhage (IVH) in very low birth weight (VLBW) infants. OBJECTIVE: To determine whether early LP in VLBW infants is associated with severe IVH. METHODS: VLBW infants from a cohort of 1,158,789 infants discharged from 382 neonatal intensive care units (1997-2015) were enrolled...
December 5, 2017: Early Human Development
https://www.readbyqxmd.com/read/29210929/optic-disc-edema-in-glial-fibrillary-acidic-protein-autoantibody-positive-meningoencephalitis
#8
John J Chen, Allen J Aksamit, Andrew McKeon, Sean J Pittock, Brian G Weinshenker, Jacqueline A Leavitt, Padraig P Morris, Eoin P Flanagan
BACKGROUND: Glial fibrillary acidic protein (GFAP) autoantibody-positive meningoencephalitis is a newly described entity characterized by a corticosteroid-responsive meningoencephalomyelitis. Some patients with GFAP autoantibody-positive meningoencephalitis have been found to have optic disc edema, which has previously not been well characterized. METHODS: We performed a retrospective, observational case series of Mayo Clinic patients found to have GFAP-IgG and optic disc edema from January 1, 2000, to December 31, 2016...
November 21, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29208343/single-center-experience-with-intrathecal-administration-of-nusinersen-in-children-with-spinal-muscular-atrophy-type-1
#9
Astrid Pechmann, Thorsten Langer, Sabine Wider, Janbernd Kirschner
BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disorder mainly characterized by proximal muscle weakness. There have been enormous advances in therapeutic development with the possibility to influence the clinical course of the disease. Nusinersen is the first approved drug to treat SMA. It is administered intrathecally and acts as splicing modifier of the SMN2 gene. METHODS: Lumbar punctures were performed using a standardized protocol. To evaluate safety and feasibility of the intrathecal treatment, vital signs and the need for sedation, analgesia or mechanical ventilation during the procedure were monitored...
November 21, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29206764/pet-ct-in-critically-ill-patients-diagnosing-the-unsuspected
#10
Romain Fort, Stanislas Ledochowski, Arnaud Friggeri
OBJECTIVE: Quick identification of septic source is fundamental in patients with severe sepsis of unknown origin. The purpose of this case report was to assess the benefit and feasibility of an early PET-CT in critically ill patients with undiagnosed sepsis. DATA SOURCES: Clinical observations of two patients. STUDY SELECTION: Case reports. DATA EXTRACTION: Data extracted from medical records, after patient's consent...
December 4, 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/29192390/epcam-based-assays-for-epithelial-tumor-cell-detection-in-cerebrospinal-fluid
#11
REVIEW
Mark T J van Bussel, Dick Pluim, Mijke Bol, Jos H Beijnen, Jan H M Schellens, Dieta Brandsma
The diagnosis of leptomeningeal metastases (LM) of solid tumors is complicated due to low sensitivities of both magnetic resonance imaging (MRI) and cytology. MRI has a sensitivity of 76% for the diagnosis of LM and cerebrospinal fluid (CSF) cytology has a sensitivity of 44-67% at first lumbar puncture which increases to 84-91% upon second CSF sampling. Epithelial cell adhesion molecule (EpCAM) is expressed by solid tumors of epithelial origin like non-small-cell lung cancer, breast cancer or ovarium cancer...
November 30, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29189507/acute-myeloid-leukemia-with-central-nervous-system-involvement-in-children-experience-from-the-french-protocol-analysis-elam02
#12
Arthur Felix, Thierry Leblanc, Arnaud Petit, Brigitte Nelkem, Yves Bertrand, Virginie Gandemer, Anne Sirvent, Catherine Paillard, Claudine Schmitt, Pierre Simon Rohrlich, Odile Fenneteau, Christine Ragu, Gerard Michel, Anne Auvrignon, André Baruchel, Guy Leverger
Central nervous system (CNS) involvement at diagnosis of pediatric acute myeloid leukemia (AML) is not considered as an independent prognostic factor. This study describes the prognostic value of pediatric AML with CNS involvement at diagnosis. Pediatric patients were treated for de novo AML in the French multicenter trial ELAM02. Lumbar puncture was carried out in the first week, and the treatment was adapted to the CNS status. No patient received CNS radiotherapy. The patients were classified into 2 groups: CNS+ and CNS-...
November 17, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29189495/lumbar-spine-anatomy-in-women-sustaining-unintentional-dural-puncture-during-labor-epidural-placement-a-descriptive-study-using-magnetic-resonance-imaging-and-ultrasound
#13
Nicholas M Barrett, Cristian Arzola, Timo Krings, Kristi Downey, Jose C A Carvalho
BACKGROUND AND OBJECTIVES: Unintentional dural puncture is one of the most frequent complications of the epidural technique. One previous study suggested that atypical sonoanatomy of the ligamentum flavum/dura mater unit may be a risk factor for this complication. In this study, we describe the anatomy of the lumbar spine, assessed by magnetic resonance imaging (MRI) and ultrasound, in women sustaining unintentional dural puncture during epidural catheter placement for labor analgesia...
November 15, 2017: Regional Anesthesia and Pain Medicine
https://www.readbyqxmd.com/read/29185868/three-case-studies-of-nonparaneoplastic-limbic-encephalitis-nple-in-young-adult-males-onset-course-and-recovery-following-rehabilitation-services
#14
Robert Perna, Lindsey Harik, Ana Arenivas
Limbic encephalitis (LE) is a rare neurological disorder characterized by inflammation of the brain caused by autoimmunity or infection. LE has been a difficult to define and diagnose disorder due to the insidious and nonspecific (e.g., irritability, low mood, short-term memory complaints) presentation of early symptoms, as well as inconsistent findings on neuroimaging, lumbar puncture serum analysis, and electroencephalogram. Seizures, memory problems, and psychiatric disturbance are among the earliest and most prominent clinical features...
November 29, 2017: Applied Neuropsychology. Child
https://www.readbyqxmd.com/read/29184716/refractory-intracranial-hypertension-in-traumatic-brain-injury-proposal-for-a-novel-score-to-assess-the-safety-of-lumbar-cerebrospinal-fluid-drainage
#15
Marlies Bauer, Florian Sohm, Claudius Thomé, Martin Ortler
Background: Cerebrospinal fluid (CSF) drainage via ventricular puncture is an established therapy of elevated intracranial pressure (ICP). In contrast, lumbar CSF removal is believed to be contraindicated with intracranial hypertension. Methods: We investigated the safety and efficacy of lumbar CSF drainage to decrease refractory elevated ICP in a small cohort of patients with traumatic brain injury (TBI). A score (0-8 points) was used to assess computed tomography (CT) images for signs of herniation and for patency of the basal cisterns...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/29184272/approach-to-chronic-secondary-headache-a-case-report-on-unusual-drug-side-effects
#16
Hamid Reza Riasi, Forod Salehi, Morteza Hajihosseini
In this article, we present the case of a 12-year-old female child who complained of bilateral temporal and frontal headache for 2 to 3 months with nausea and vomiting. Physical examination revealed right-sided sixth cranial nerve palsy and papilledema in ophthalmoscopy. To find the cause of increased intracranial pressure, the patient underwent brain imaging and brain MRI showed no abnormality. Ultimately, lumbar puncture (LP) was performed and cerebrospinal fluid (CSF) pressure was 280 mmH2O with normal chemistry...
November 2017: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29170173/kikuchi-fujimoto-disease-an-unusual-presentation-of-meningitis-in-a-returning-traveller
#17
Nishant Divyang Trivedi, Andrew Stephen Parsons
A 19-year-old, previously healthy woman developed a pruritic erythematous maculopapular rash on her bilateral palms and wrists, right-sided tender cervical lymphadenopathy and nightly fevers and headaches 5 days after returning from a 1-month trip to Cambodia. She presented 2 weeks after her trip due to ongoing nightly fevers to a maximum of 38.8°C. She was given empiric doxycycline for possible rickettsial disease, though an extensive infectious workup returned without positive findings. Lumbar puncture was performed on hospital day 4, and spinal fluid analysis was consistent with aseptic meningitis...
November 23, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29164798/regionally-specific-changes-in-the-hippocampal-circuitry-accompany-progression-of-cerebrospinal-fluid-biomarkers-in-preclinical-alzheimer-s-disease
#18
Christine L Tardif, Gabriel A Devenyi, Robert S C Amaral, Sandra Pelleieux, Judes Poirier, Pedro Rosa-Neto, John Breitner, M Mallar Chakravarty
Neuropathological and in vivo brain imaging studies agree that the cornu ammonis 1 and subiculum subfields of the hippocampus are most vulnerable to atrophy in the prodromal phases of Alzheimer's disease (AD). However, there has been limited investigation of the structural integrity of the components of the hippocampal circuit, including subfields and extra-hippocampal white matter structure, in relation to the progression of well-accepted cerebrospinal fluid (CSF) biomarkers of AD, amyloid-β 1-42 (Aβ) and total-tau (tau)...
November 21, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/29163346/paroxysmal-symptoms-as-the-first-manifestation-of-multiple-sclerosis-mimicking-a-transient-ischemic-attack-a-report-of-two-cases
#19
Yao Zhang, Siyuan Fan, Fei Han, Yan Xu
Paroxysmal symptoms are unusual manifestations of multiple sclerosis (MS). When presented as the first clinical manifestation, paroxysmal symptoms may easily be mistaken for transient ischemic attack (TIA). Previously, several cases of MS that reported with paroxysmal symptoms were misdiagnosed as TIA. Here, we report two additional cases, focusing on the clinical characteristics of paroxysmal symptoms in MS. Both cases had paroxysmal symptoms as their first manifestation; one presented with transient dizziness, left face numbness, and right limb weakness, and the other presented with episodic lightheadedness, blurred vision, nausea, palpitations, and tremulousness upon standing...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29160817/impact-of-high-dose-multi-strain-probiotic-supplementation-on-neurocognitive-performance-and-central-nervous-system-immune-activation-of-hiv-1-infected-individuals
#20
Giancarlo Ceccarelli, Jason M Brenchley, Eugenio Nelson Cavallari, Giuseppe Corano Scheri, Mariangela Fratino, Claudia Pinacchio, Ivan Schietroma, Saeid Najafi Fard, Carolina Scagnolari, Ivano Mezzaroma, Vincenzo Vullo, Gabriella d'Ettorre
BACKGROUND: Gut microbiota has metabolic activity which influences mucosal homeostasis, local and systemic immune responses, and other anatomical systems (i.e., brain). The effects of dysbiosis are still poorly studied in Human Immunodeficiency Virus-1 (HIV-1) positive subjects and insufficient data are available on the impairment of the gut-brain axis, despite neurocognitive disorders being commonly diagnosed in these patients. This study evaluated the impact of a probiotic supplementation strategy on intrathecal immune activation and cognitive performance in combined antiretroviral therapy (cART) treated HIV-1 infected subjects...
November 21, 2017: Nutrients
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