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https://www.readbyqxmd.com/read/28921412/how-close-are-we-to-therapies-for-sanfilippo-disease
#1
REVIEW
Lidia Gaffke, Karolina Pierzynowska, Ewa Piotrowska, Grzegorz Węgrzyn
Sanfilippo disease is one of mucopolysaccharidoses (MPS), a group of lysosomal storage diseases characterized by accumulation of partially degraded glycosaminoglycans (GAGs). It is classified as MPS type III, though it is caused by four different genetic defects, determining subtypes A, B, C and D. In each subtype of MPS III, the primary storage GAG is heparan sulfate (HS), but mutations leading to A, B, C, and D subtypes are located in genes coding for heparan N-sulfatase (the SGSH gene), α-N-acetylglucosaminidase (the NAGLU gene), acetyl-CoA:α-glucosaminide acetyltransferase (the HGSNAT gene), and N-acetylglucosamine-6-sulfatase (the GNS gene), respectively...
September 18, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28920040/parasympathetic-cholinergic-and-neuropeptide-mechanisms-of-migraine
#2
REVIEW
Nikita Mikhailov, Oleg V Mamontov, Alexei A Kamshilin, Rashid Giniatullin
CONTEXT: Migraine mechanisms remain largely uncovered for various reasons including a very high complexity of the neurophysiological mechanisms implicated in this disorder and a plethora of endogenous biologically active compounds involved in the pathological process. The functional role of parasympathetic innervation of meninges and cholinergic mechanisms of migraine are among little explored issues despite multiple evidence indirectly indicating the role of acetylcholine (ACh) and its analogues in migraine and other types of headache...
February 2017: Anesthesiology and Pain Medicine
https://www.readbyqxmd.com/read/28919499/ultrasound-guidance-for-phenol-neurolysis-to-the-musculocutaneous-nerve
#3
Mary E Matsumoto, Jessica Berry, Herbie Yung, Martha Matsumoto, Michael C Munin
OBJECTIVE: This study compared electrical stimulation only (e-stim) to ultrasound with e-stim (US) guidance in phenol neurolysis of the musculocutaneous nerve (MCN) for elbow flexor spasticity. We also evaluated the US appearance of MCN in this population. DESIGN: Retrospective review SETTING: University hospital outpatient clinic PARTICIPANTS: Adult patients (N=167) receiving phenol neurolysis of the MCN for treatment of elbow flexor spasticity between 1997 to 2014 and adult control subjects...
September 14, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28918020/rationally-engineered-aav-capsids-improve-transduction-and-volumetric-spread-in-the-cns
#4
Nicholas M Kanaan, Rhyomi C Sellnow, Sanford L Boye, Ben Coberly, Antonette Bennett, Mavis Agbandje-McKenna, Caryl E Sortwell, William W Hauswirth, Shannon E Boye, Fredric P Manfredsson
Adeno-associated virus (AAV) is the most common vector for clinical gene therapy of the CNS. This popularity originates from a high safety record and the longevity of transgene expression in neurons. Nevertheless, clinical efficacy for CNS indications is lacking, and one reason for this is the relatively limited spread and transduction efficacy in large regions of the human brain. Using rationally designed modifications of the capsid, novel AAV capsids have been generated that improve intracellular processing and result in increased transgene expression...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28917669/knowledge-driven-computational-modeling-in-alzheimer-s-research-current-state-and-future-trends
#5
Hugo Geerts, Martin Hofmann-Apitius, Thomas J Anastasio
Neurodegenerative diseases such as Alzheimer's disease (AD) follow a slowly progressing dysfunctional trajectory, with a large presymptomatic component and many comorbidities. Using preclinical models and large-scale omics studies ranging from genetics to imaging, a large number of processes that might be involved in AD pathology at different stages and levels have been identified. The sheer number of putative hypotheses makes it almost impossible to estimate their contribution to the clinical outcome and to develop a comprehensive view on the pathological processes driving the clinical phenotype...
September 14, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/28917084/evaluation-of-neurodevelopment-of-children-with-congenital-hypothyroidism-by-the-denver-developmental-screening-test
#6
Ayşe Derya Buluş, Esra Tiftik
BACKGROUND: Thyroid hormones are essential for growth and brain development in childhood. Although congenital hypothyroidism (CH) is the most common reason for mental retardation, normal neurological development can be achieved through early and effective treatment. The aim of the present study was to evaluate the neurological development of CH patients aged 24-56 months. METHODS: The study included a total of 116 healthy control subjects and 112 patients aged 24-56 months who were diagnosed with CH during the neonatal period and were being followed up at the Pediatric Endocrinology Department, Keçiören Training and Research Hospital, between 2012 and 2015...
September 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28914733/metabolic-connectivity-methods-and-applications
#7
Igor Yakushev, Alexander Drzezga, Christian Habeck
PURPOSE OF REVIEW: Metabolic connectivity modelling aims to detect functionally interacting brain regions based on PET recordings with the glucose analogue [F]fluorodeoxyglucose (FDG). Here, we outline the most popular metabolic connectivity methods and summarize recent applications in clinical and basic neuroscience. RECENT FINDINGS: Metabolic connectivity is modelled by various methods including a seed correlation, sparse inverse covariance estimation, independent component analysis and graph theory...
September 13, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28913694/emergency-neurological-life-support-traumatic-spine-injury
#8
Deborah M Stein, William A Knight
Traumatic spine injuries (TSIs) carry significantly high risks of morbidity, mortality, and exorbitant health care costs from associated medical needs following injury. For these reasons, TSI was chosen as an ENLS protocol. This article offers a comprehensive review on the management of spinal column injuries using the best available evidence. Though the review focuses primarily on cervical spinal column injuries, thoracolumbar injuries are briefly discussed as well. The initial emergency department (ED) clinical evaluation of possible spinal fractures and cord injuries, along with the definitive early management of confirmed injuries, are also covered...
September 14, 2017: Neurocritical Care
https://www.readbyqxmd.com/read/28913605/emergency-neurological-life-support-status-epilepticus
#9
Jan Claassen, Joshua N Goldstein
Patients with prolonged or rapidly recurring convulsions lasting more than 5 min should be considered to be in status epilepticus (SE) and receive immediate resuscitation. Although there are few randomized clinical trials, available evidence and experience suggest that early and aggressive treatment of SE improves patient outcomes, for which reason this was chosen as an Emergency Neurological Life Support protocol. The current approach to the emergency treatment of SE emphasizes rapid initiation of adequate doses of first line therapy, as well as accelerated second line anticonvulsant drugs and induced coma when these fail, coupled with admission to a unit capable of neurological critical care and electroencephalography monitoring...
September 14, 2017: Neurocritical Care
https://www.readbyqxmd.com/read/28911050/motor-abnormalities-from-neurodevelopmental-to-neurodegenerative-through-functional-neuro-psychiatric-disorders
#10
Victor Peralta, Manuel J Cuesta
Background: Motor abnormalities (MAs) of severe mental disorders have been traditionally neglected both in clinical practice and research, although they are an increasing focus of attention because of their clinical and neurobiological relevance. For historical reasons, most of the literature on MAs has been focused to a great extent on schizophrenia, and as a consequence their prevalence and featural properties in other psychiatric or neuropsychiatric disorders are poorly known. In this article, we evaluated the extent to which catatonic, extrapyramidal and neurological soft signs, and their associated clinical features, are present transdiagnostically...
September 1, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28904822/a-parental-perspective-concerning-barriers-to-care-for-neural-tube-defects-in-china
#11
Andrew Campion, Clement Lee, Nan Bao, Jorge Lazareff
BACKGROUND: The People's Republic of China (PRC) has the highest incidence of neural tube defects (NTDs) in the world. NTDs remain a significant contributor to the global burden of disease amendable to surgical care; however, no studies to date have evaluated the patients' perspective regarding perceived barriers to care. METHODS: The study was conducted at the Shanghai Children's Medical Center (SCMC) between 6/11/2014 and 7/17/2014. Surveys were administered to families presenting to the clinic of the SCMC director for Pediatric Neurosurgery...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28900573/the-effects-of-a-multimodal-rehabilitation-program-on-pain-kinesiophobia-and-function-in-a-runner-with-patellofemoral-pain
#12
Samuele Passigli, Pietro Capacci, Emanuele Volpi
BACKGROUND AND PURPOSE: Multimodal interventions possess the strongest evidence in the long-term management of patellofemoral pain, but despite receiving evidence-based treatments that are initially effective many patients report recurrent or persistent symptoms for years after the initial diagnosis. Untreated psychological factors could be a possible explanation for persistent symptoms and poor treatment outcome. The purpose of this case report was to describe and evaluate the effects of a multimodal rehabilitation program that included pain education, a graded program of lower limb strengthening, and running retraining on pain, kinesiophobia, and function in a runner with patellofemoral pain...
August 2017: International Journal of Sports Physical Therapy
https://www.readbyqxmd.com/read/28898130/imaging-of-children-with-nontraumatic-headaches
#13
Anna Trofimova, Brianna L Vey, Mark E Mullins, David S Wolf, Nadja Kadom
OBJECTIVE: Headache in children is a common symptom and often is worrisome for clinicians and parents because of the breadth of possible underlying significant abnormalities, including meningitis, brain neoplasms, and intracranial hemorrhage. For this reason, many children with headaches undergo neuroimaging. Most neuroimaging studies performed of children with headaches have normal findings but may lead to significant downstream effects, including unnecessary exposure to ionizing radiation or sedation, as well as unnecessary cost to the health care system...
September 12, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28896001/-barriers-impeding-access-to-epilepsy-surgery-a-review-of-the-literature
#14
REVIEW
L D Ladino, V Benjumea-Cuartas, J Vargas-Osorio, L V Villamil-Osorio, L Hernandez-Vanegas, I E Martinez-Juarez, J F Tellez-Zenteno
Drug-resistant epilepsy, a chronic condition with long-term consequences can be treated with surgery. The efficacy and safety of surgery for temporal lobe epilepsy have been established through a large number of retrospective and prospective cohort studies and two randomized controlled clinical trials. Despite the excellent outcomes reported after surgery, the literature suggests that this procedure is an underutilized treatment. While evidence is lacking as to why epilepsy surgery is underused, cited reasons include: failure of primary care physicians and neurologists to provide information and identify patients who could be referred for surgery; different levels of technology at various centers, resulting in different candidate selection strategies; the belief that epilepsy surgery is a risky procedure and that it should be only viewed as the last option; patient preference to avoid surgery; parents wanting to wait until their child is old enough to participate in the decision-making process regarding surgery; unwillingness of insurers to cover the expenses associated with presurgical evaluations or lack of insurance; racial and social disparities, among others...
September 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28895997/-elevated-incidence-of-cognitive-impairment-in-patients-with-asymptomatic-carotid-stenosis
#15
E Hernandez-Rodriguez, E Sirumal, P J Perez-Lorensu, J L Perez-Burkhardt, J Barroso, I Galtier
INTRODUCTION: Stroke is one of the main causes of mortality and functional disability in developed countries. Carotid stenosis (CS) is considered the reason for 20-30% of strokes. However, the studies that have gone into depth on the cognitive status of these patients are limited. AIM: To investigate the cognitive performance of CS patients and its relationship with clinical variables (carotid obstruction, lifestyle). PATIENTS AND METHODS: 33 CS patients were evaluated using a broad neuropsychological protocol, and were divided into two groups: symptomatic CS and asymptomatic CS...
September 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28892024/stereological-estimation-of-dopaminergic-neuron-number-in-the-mouse-substantia-nigra-using-the-optical-fractionator-and-standard-microscopy-equipment
#16
Chi Wang Ip, David Cheong, Jens Volkmann
In pre-clinical Parkinson's disease research, analysis of the nigrostriatal tract, including quantification of dopaminergic neuron loss within the substantia nigra, is essential. To estimate the total dopaminergic neuron number, unbiased stereology using the optical fractionator method is currently considered the gold standard. Because the theory behind the optical fractionator method is complex and because stereology is difficult to achieve without specialized equipment, several commercially available complete stereology systems that include the necessary software do exist, purely for cell counting reasons...
September 1, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28891839/the-relative-effects-of-dexmedetomidine-and-propofol-on-cerebral-blood-flow-velocity-and-regional-brain-oxygenation-a-randomised-noninferiority-trial
#17
Ehab Farag, Michael Kot, Attila Podolyak, Maged Argalious, Milind Deogaonkar, Edward J Mascha, Zekun Xu, Irene Katzan, Zeyd Ebrahim
BACKGROUND: Dexmedetomidine constricts cerebral blood vessels without a concomitant reduction in cerebral metabolic oxygen consumption. Its safety as a sedative in patients with neurological diseases thus remains uncertain. OBJECTIVE: Our primary objective was to test the hypothesis that dexmedetomidine is noninferior to propofol as regards cerebral blood flow (CBF) velocity and brain oxygenation. DESIGN: Unblinded randomised trial. SETTING: Cleveland Clinic Hospital, Cleveland, from November 2010 to July 2013...
June 19, 2017: European Journal of Anaesthesiology
https://www.readbyqxmd.com/read/28890044/recursive-partitioning-analysis-for-disease-progression-in-adult-intracranial-ependymoma-patients
#18
Sang Woo Song, Yun-Sik Dho, Jin Wook Kim, Yong Hwy Kim, Sun Ha Paek, Dong Gyu Kim, Hee-Won Jung, Sung-Hye Park, Seung Hong Choi, Tae Min Kim, Soon-Tae Lee, Il Han Kim, Sang Hyung Lee, Chul-Kee Park
Intracranial ependymomas are rare tumors in adults. Although recent advancements from demographic, clinical, and biological studies provide new perspectives on this rare tumor, they are not yet widely applied in clinical practice. Currently, most ependymoma patients are treated in the same way: via surgical resection with adjuvant radiation therapy. However, it is reasonable to apply more aggressive treatment for high-risk patients. From this point of view, we performed a study to investigate risk grouping for disease progression of intracranial ependymomas in adults...
September 7, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28889928/infections-of-the-nervous-system
#19
REVIEW
Seth N Levin, Jennifer L Lyons
Microorganisms can affect the entire neuraxis, producing a variety of neurologic complications that frequently entail prolonged hospitalizations and complicated treatment regimens. The spread of pathogens to new regions and the reemergence of opportunistic organisms in immunocompromised patients pose increasing challenges to healthcare professionals. Since rapid diagnosis and treatment may prevent long-term neurologic sequelae, providers should approach these diseases with a structured, neuroanatomic framework, incorporating a thorough history, exam, laboratory analysis, and neuroimaging in their clinical reasoning and decision-making...
September 7, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28887894/interobserver-variation-in-the-diagnosis-of-neurologic-abnormalities-in-the-horse
#20
W J A Saville, S M Reed, J P Dubey, D E Granstrom, P S Morley, K W Hinchcliff, C W Kohn, T E Wittum, J D Workman
BACKGROUND: The diagnosis of equine protozoal myeloencephalitis (EPM) relies heavily on the clinical examination. The accurate identification of neurologic signs during a clinical examination is critical to the interpretation of laboratory results. OBJECTIVE: To investigate the level of agreement between board-certified veterinary internists when performing neurologic examinations in horses. ANIMALS: Ninety-seven horses admitted to the Veterinary Teaching Hospital at The Ohio State University from December 1997 to June 1998...
September 9, 2017: Journal of Veterinary Internal Medicine
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