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Neurology

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https://www.readbyqxmd.com/read/27629089/a-genome-wide-association-study-in-multiple-system-atrophy
#1
MULTICENTER STUDY
Anna Sailer, Sonja W Scholz, Michael A Nalls, Claudia Schulte, Monica Federoff, T Ryan Price, Andrew Lees, Owen A Ross, Dennis W Dickson, Kin Mok, Niccolo E Mencacci, Lucia Schottlaender, Viorica Chelban, Helen Ling, Sean S O'Sullivan, Nicholas W Wood, Bryan J Traynor, Luigi Ferrucci, Howard J Federoff, Timothy R Mhyre, Huw R Morris, Günther Deuschl, Niall Quinn, Hakan Widner, Alberto Albanese, Jon Infante, Kailash P Bhatia, Werner Poewe, Wolfgang Oertel, Günter U Höglinger, Ullrich Wüllner, Stefano Goldwurm, Maria Teresa Pellecchia, Joaquim Ferreira, Eduardo Tolosa, Bastiaan R Bloem, Olivier Rascol, Wassilios G Meissner, John A Hardy, Tamas Revesz, Janice L Holton, Thomas Gasser, Gregor K Wenning, Andrew B Singleton, Henry Houlden
OBJECTIVE: To identify genetic variants that play a role in the pathogenesis of multiple system atrophy (MSA), we undertook a genome-wide association study (GWAS). METHODS: We performed a GWAS with >5 million genotyped and imputed single nucleotide polymorphisms (SNPs) in 918 patients with MSA of European ancestry and 3,864 controls. MSA cases were collected from North American and European centers, one third of which were neuropathologically confirmed. RESULTS: We found no significant loci after stringent multiple testing correction...
October 11, 2016: Neurology
https://www.readbyqxmd.com/read/28735675/treatment-of-narcolepsy-and-other-organic-hypersomnias-in-children
#2
REVIEW
Suresh Kotagal
The comprehensive management of chronic disorders such as hypersomnias of childhood requires combining life-style changes with rational pharmacotherapy that is based on treating the symptoms that are most bothersome, the age, comorbidities, and metabolic and endocrine status of the patient. The excessive sleepiness of narcolepsy and idiopathic hypersomnia is best treated with dextroamphetamine or methylphenidate preparations or modafinil/armodafinil. Cataplexy treatment requires sodium oxybate, tricyclic agents, selective norepinephrine reuptake inhibitors or selective serotonin reuptake inhibitors...
June 20, 2017: Paediatric Respiratory Reviews
https://www.readbyqxmd.com/read/28779866/neurological-complications-of-rheumatic-disease
#3
Svetlana Lvovich, Donald P Goldsmith
Rheumatic disease represents a broad spectrum of systemic conditions manifested by multisystem involvement and mediated by autoimmunity and inflammation. Their neurological complications may occur at any point in the disease process and are diagnostically challenging. For years central nervous system (CNS) was considered as a system uniquely protected from effects of the immune system because of the blood-brain barrier. Indeed, under physiological conditions immune access to CNS is tightly regulated. Over the past decade, new scientific discoveries highlighted pathways by which immune and neurological systems interact, including a variety of mechanisms controlling permeability of blood-brain barrier, and specific roles that CD4(+) and CD8(+) T-lymphocytes play in initiation of specific adaptive immune response to neural specific antigens...
February 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28779867/neurological-complications-of-childhood-cancer
#4
Lauren Weaver, Ayman Samkari
Though the treatment of pediatric cancers has come a long way, acute and chronic effects of cancer are still affecting the life of many children. These effects may be caused not only by the malignancy itself but also by the interventions used for the purpose of treatment. This article focuses primarily on the indirect effects of pediatric cancers and their treatment on the central and peripheral nervous system. Chemotherapy, radiation, and stem cell transplantation cause an immune-compromised state and place the patient at risk of infection, the leading cause of mortality in pediatric cancer...
February 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28844551/safety-and-efficacy-of-high-dose-enteral-intravenous-and-transdermal-clonidine-for-the-acute-management-of-severe-intractable-childhood-dystonia-and-status-dystonicus-an-illustrative-case-series
#5
V Nakou, K Williamson, T Arichi, D E Lumsden, Steve Tomlin, M Kaminska, J-P Lin
OBJECTIVE: Acute dystonia in children is distressing, painful and can progress to life-threatening status dystonicus. Typical management involves benzodiazepines which can result in respiratory depression requiring PICU admission. Clonidine is less respiratory-depressant, and by facilitating sleep, switches dystonia off. It can also be administered via enteral, continuous intravenous infusion, and transdermal slow release routes. We describe the dose range and safety profile of clonidine management in a case-series of children with severe acute exacerbation of dystonia in a tertiary hospital setting...
July 28, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28811058/early-detection-of-tuberous-sclerosis-complex-an-opportunity-for-improved-neurodevelopmental-outcome
#6
Clara W T Chung, John A Lawson, Vanessa Sarkozy, Kate Riney, Orli Wargon, Antonia W Shand, Stephen Cooper, Harrison King, Sean E Kennedy, David Mowat
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant condition associated with epilepsy, benign tumors, and variable neurodevelopmental outcomes. The diagnosis is most commonly made after epilepsy onset, although a proportion are diagnosed prenatally. Presymptomatic or early treatment with agents such as vigabatrin offers the hope of improved neurodevelopmental outcome. Therefore early diagnosis, before the onset of seizures, is important. In a cohort of children with TSC, we evaluated the age and mode of initial presentation, assessed the neurocognitive and epilepsy outcome, and analyzed whether those diagnosed before the onset of seizures have a different outcome compared with those diagnosed postseizures...
May 26, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28794249/not-all-scn1a-epileptic-encephalopathies-are-dravet-syndrome-early-profound-thr226met-phenotype
#7
Lynette G Sadleir, Emily I Mountier, Deepak Gill, Suzanne Davis, Charuta Joshi, Catherine DeVile, Manju A Kurian, Simone Mandelstam, Elaine Wirrell, Katherine C Nickels, Hema R Murali, Gemma Carvill, Candace T Myers, Heather C Mefford, Ingrid E Scheffer
OBJECTIVE: To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder. METHODS: A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and SCN1A mutation. RESULTS: We identified 9 children 3 to 12 years of age; 7 were male. Seizure onset was at 6 to 12 weeks with hemiclonic seizures, bilateral tonic-clonic seizures, or spasms...
September 5, 2017: Neurology
https://www.readbyqxmd.com/read/21989247/clinical-diagnosis-and-management-of-amyotrophic-lateral-sclerosis
#8
REVIEW
Orla Hardiman, Leonard H van den Berg, Matthew C Kiernan
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that results in progressive loss of bulbar and limb function. Patients typically die from respiratory failure within 3 years of symptom onset. The incidence of ALS in Europe is 2-3 cases per 100,000 individuals in the general population, and the overall lifetime risk of developing the disease is 1:400. ALS is familial in 5% of cases, and shows a Mendelian pattern of inheritance. ALS is recognized to overlap with frontotemporal dementia. Diagnosis is made on clinical grounds, using internationally recognized consensus criteria, after exclusion of conditions that can mimic ALS...
October 11, 2011: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28678221/pediatric-acute-transverse-myelitis
#9
Bashaer Albulushi, Brahim Tabarki
No abstract text is available yet for this article.
July 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28706481/adverse-effects-of-the-apolipoprotein-e-%C3%AE%C2%B54-allele-on-episodic-memory-task-switching-and-gray-matter-volume-in-healthy-young-adults
#10
Jianfei Nao, Hongzan Sun, Qiushi Wang, Shuang Ma, Shuo Zhang, Xiaoyu Dong, Ying Ma, Xiaoming Wang, Dongming Zheng
Many studies have shown that healthy elderly subjects and patients with Alzheimer's disease (AD) who carry the apolipoprotein E (ApoE) ε4 allele have worse cognitive function and more severe brain atrophy than non-carriers. However, it remains unclear whether this ApoE polymorphism leads to changes of cognition and brain morphology in healthy young adults. In this study, we used an established model to measure verbal episodic memory and core executive function (EF) components (response inhibition, working memory and task switching) in 32 ApoE ε4 carriers and 40 non-carriers between 20 years and 40 years of age...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28588358/marchiafava-bignami-s-disease-as-etiologic-diagnosis-of-athetosis
#11
Alberto Vargas Canas, Mario Rivas, Rodrigo Guerrero Torrealba, María Francisca Fajre Caamano
The Marchiafava-Bignami disease, characterized by demyelination and necrosis of the corpus callosum, has typically been associated with chronic alcohol intake, and clinically has various symptoms and signs. However, several cases have been reported without alcohol association, and these - according to several publications - have some common points, such as preference for female, related to malnutrition, and radiological involvement of the splenium of the corpus callosum. We report a case of a patient with the characteristics described above and whose clinical manifestation was Athetosis...
May 2017: Annals of Neurosciences
https://www.readbyqxmd.com/read/26888997/antibiotic-associated-encephalopathy
#12
REVIEW
Shamik Bhattacharyya, R Ryan Darby, Pooja Raibagkar, L Nicolas Gonzalez Castro, Aaron L Berkowitz
Delirium is a common and costly complication of hospitalization. Although medications are a known cause of delirium, antibiotics are an underrecognized class of medications associated with delirium. In this article, we comprehensively review the clinical, radiologic, and electrophysiologic features of antibiotic-associated encephalopathy (AAE). AAE can be divided into 3 unique clinical phenotypes: encephalopathy commonly accompanied by seizures or myoclonus arising within days after antibiotic administration (caused by cephalosporins and penicillin); encephalopathy characterized by psychosis arising within days of antibiotic administration (caused by quinolones, macrolides, and procaine penicillin); and encephalopathy accompanied by cerebellar signs and MRI abnormalities emerging weeks after initiation of antibiotics (caused by metronidazole)...
March 8, 2016: Neurology
https://www.readbyqxmd.com/read/28514607/tuberous-sclerosis-complex
#13
Michele Marchini, Elisabetta Giglio
A 71-year-old man presented to the nephrology department for the evaluation of chronic kidney disease, which had developed during the past 20 years. The patient had received a diagnosis of tuberous sclerosis complex, or Bourneville’s disease, in his late 20s. The physical examination revealed..
May 18, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28461111/validated-age-specific-reference-values-for-csf-total-protein-levels-in-children
#14
V Kahlmann, J Roodbol, N van Leeuwen, C R B Ramakers, D van Pelt, R F Neuteboom, C E Catsman-Berrevoets, M C Y de Wit, B C Jacobs
OBJECTIVE: To define age-specific reference values for cerebrospinal fluid (CSF) total protein levels for children and validate these values in children with Guillain-Barré syndrome (GBS), acute disseminated encephalomyelitis (ADEM) and multiple sclerosis (MS). METHODS: Reference values for CSF total protein levels were determined in an extensive cohort of diagnostic samples from children (<18 year) evaluated at Erasmus Medical Center/Sophia Children's Hospital...
July 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28302612/difficult-lumbar-puncture-pitfalls-and-tips-from-the-trenches
#15
REVIEW
P A Hudgins, A J Fountain, P R Chapman, L M Shah
Lumbar puncture has, for many years, been the responsibility of the internal medicine physician or the neurologist. As more patients have undergone spine surgery and with the current increase in body mass index of the general population, the radiologist has been consulted with increasing frequency to perform lumbar puncture with fluoroscopic guidance. Radiology, in fact, is now the dominant overall provider of lumbar puncture procedures. The procedure is more difficult when the needle length increases, and if fluoroscopy is used, landmarks are more difficult to visualize with increasing subcutaneous fat...
July 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28389438/management-and-investigation-of-neonatal-encephalopathy-2017-update
#16
Kathryn Martinello, Anthony R Hart, Sufin Yap, Subhabrata Mitra, Nicola J Robertson
This review discusses an approach to determining the cause of neonatal encephalopathy, as well as current evidence on resuscitation and subsequent management of hypoxic-ischaemic encephalopathy (HIE). Encephalopathy in neonates can be due to varied aetiologies in addition to hypoxic-ischaemia. A combination of careful history, examination and the judicious use of investigations can help determine the cause. Over the last 7 years, infants with moderate to severe HIE have benefited from the introduction of routine therapeutic hypothermia; the number needed to treat for an additional beneficial outcome is 7 (95% CI 5 to 10)...
July 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/28274641/pathways-for-neuroimaging-of-childhood-stroke
#17
REVIEW
David M Mirsky, Lauren A Beslow, Catherine Amlie-Lefond, Pradeep Krishnan, Suzanne Laughlin, Sarah Lee, Laura Lehman, Mubeen Rafay, Dennis Shaw, Michael J Rivkin, Max Wintermark
BACKGROUND: The purpose of this article is to aid practitioners in choosing appropriate neuroimaging for children who present with symptoms that could be caused by stroke. METHODS: The Writing Group members participated in one or more pediatric stroke neuroimaging symposiums hosted by the Stroke Imaging Laboratory for Children housed at the Hospital for Sick Children in Toronto, Ontario, Canada. Through collaboration, literature review, and discussion among child neurologists with expertise diagnosing and treating childhood stroke and pediatric neuroradiologists and neuroradiologists with expertise in pediatric neurovascular disease, suggested imaging protocols are presented for children with suspected stroke syndromes including arterial ischemic stroke, cerebral sinovenous thrombosis, and hemorrhagic stroke...
January 25, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/25433678/treatable-inborn-errors-of-metabolism-presenting-as-cerebral-palsy-mimics-systematic-literature-review
#18
REVIEW
Emma L Leach, Michael Shevell, Kristin Bowden, Sylvia Stockler-Ipsiroglu, Clara D M van Karnebeek
BACKGROUND: Inborn errors of metabolism (IEMs) have been anecdotally reported in the literature as presenting with features of cerebral palsy (CP) or misdiagnosed as 'atypical CP'. A significant proportion is amenable to treatment either directly targeting the underlying pathophysiology (often with improvement of symptoms) or with the potential to halt disease progression and prevent/minimize further damage. METHODS: We performed a systematic literature review to identify all reports of IEMs presenting with CP-like symptoms before 5 years of age, and selected those for which evidence for effective treatment exists...
November 30, 2014: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/1603726/neurologic-conditions-presenting-as-psychiatric-disorders
#19
REVIEW
D Z Skuster, K B Digre, J J Corbett
Neurologic disease can present as a psychiatric disorder. Understanding underlying neuroanatomic function helps physicians to localize defects and search for treatable neurologic conditions. Neurologic conditions such as Huntington's chorea, Wilson's disease, Gille de la Tourette syndrome, brain tumors, encephalitis and meningitis, neurodegenerative conditions and metabolic or toxic conditions can have psychiatric manifestations.
June 1992: Psychiatric Clinics of North America
https://www.readbyqxmd.com/read/22284562/declining-school-performance-as-a-harbinger-of-a-treatable-neurodegenerative-condition
#20
Pankaj Prasun, Vinod K Misra
No abstract text is available yet for this article.
June 2012: Journal of Pediatrics
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