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https://www.readbyqxmd.com/read/28097854/-citrullinemia-type-i-with-recurrent-liver-failure-in-a-child
#1
Verónica Bindi, Hernán Eiroa
Citrullinemia type I is an autosomal recessive disorder caused by mutation of the gene expressing ASS1 argininosuccinate synthetase, limiting enzyme of the urea cycle. The classic variants are associated with neonatal/infantile forms that cause hyperammonemia leading to death if treatment is not established. Initial symptoms of disorders of the urea cycle include neurological impairment with mild or moderate liver damage. We report a case of recurrent liver failure in an infant diagnosed with type I citrullinemia without severe neurological involvement that was referred to our center for liver transplantation...
February 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28096078/how-to-prevent-the-microvascular-complications-of-type-2-diabetes-beyond-glucose-control
#2
REVIEW
Willy Marcos Valencia, Hermes Florez
Microvascular complications (retinopathy, nephropathy, and neuropathy) affect hundreds of millions of patients with type 2 diabetes. They usually affect people with longstanding or uncontrolled disease, but they can also be present at diagnosis or in those yet to have a diagnosis made. The presentation and progression of these complications can lead to loss of visual, renal, and neurologic functions, impaired mobility and cognition, poor quality of life, limitations for employment and productivity, and increased costs for the patient and society...
January 17, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28095379/diffusion-tensor-imaging-detects-occult-cerebellar-injury-in-severe-neonatal-hypoxic-ischemic-encephalopathy
#3
Monica E Lemmon, Matthias W Wagner, Thangamadhan Bosemani, Kathryn A Carson, Frances J Northington, Thierry A G M Huisman, Andrea Poretti
BACKGROUND: Despite the benefits of whole-body hypothermia therapy, many infants with hypoxic-ischemic encephalopathy (HIE) die or have significant long-term neurodevelopmental impairment. Prospectively identifying neonates at risk of poor outcome is essential but not straightforward. The cerebellum is not classically considered to be a brain region vulnerable to hypoxic-ischemic insults; recent literature suggests, however, that the cerebellum may be involved in neonatal HIE. In this study, we aimed to assess the microstructural integrity of cerebellar and linked supratentorial structures in neonates with HIE compared to neurologically healthy neonatal controls...
January 18, 2017: Developmental Neuroscience
https://www.readbyqxmd.com/read/28094851/blood-transfusion-for-preventing-primary-and-secondary-stroke-in-people-with-sickle-cell-disease
#4
REVIEW
Lise J Estcourt, Patricia M Fortin, Sally Hopewell, Marialena Trivella, Winfred C Wang
BACKGROUND: Sickle cell disease is one of the commonest severe monogenic disorders in the world, due to the inheritance of two abnormal haemoglobin (beta globin) genes. Sickle cell disease can cause severe pain, significant end-organ damage, pulmonary complications, and premature death. Stroke affects around 10% of children with sickle cell anaemia (HbSS). Chronic blood transfusions may reduce the risk of vaso-occlusion and stroke by diluting the proportion of sickled cells in the circulation...
January 17, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28094021/neuropsychological-characteristics-of-encephalopathy-in-susac-s-syndrome-case-report
#5
Magdalena Roessler-Górecka, Tadeusz Mendel, Justyna Wiśniowska, Joanna Seniów
Susac's Syndrome (SS) is a rare, autoimmune angiopathy characterized by hearing loss, retinal artery occlusions and encephalopathy, which is usually expressed in multifocal neurological signs and symptoms, confusion state and cognitive impairment. There have been few descriptions of neuropsychological assessment of SS. We present a case study of 29-year-old woman who developed full SS. During the post-acute stage of disease, she was admitted to neurorehabilitation ward to improve her cognitive-behavioral and motor functioning...
January 10, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28093992/effects-of-thyroid-hormones-and-their-metabolites-on-learning-and-memory-in-normal-and-pathological-conditions
#6
Alice Accorroni, Grazia Chiellini, Nicola Origlia
BACKGROUND: Classical thyroid hormones have an established necessary role in the normal development of the central nervous system, and they have been recently considered as decisive factors influencing cognitive functions in adult brain and involved in the development of Alzheimer's disease. The picture summarizing thyroid hormone effects on adult brain, however, does not only include classical thyroid hormones but also the products of their peripheral metabolism. These latter have been considered as inactive breakdown products for long but recently were proved to produce significant biological effects...
January 16, 2017: Current Drug Metabolism
https://www.readbyqxmd.com/read/28093642/the-ethical-framework-for-performing-research-with-rare-inherited-neurometabolic-disease-patients
#7
Viviana Giannuzzi, Hugo Devlieger, Lucia Margari, Viveca Lena Odlind, Lamis Ragab, Cinzia Maria Bellettato, Francesca D'Avanzo, Christina Lampe, Linda Cassis, Elisenda Cortès-Saladelafont, Ángels Garcia Cazorla, Ivo Barić, Ljerka Cvitanović-Šojat, Ksenija Fumić, Christine I Dali, Franco Bartoloni, Fedele Bonifazi, Maurizio Scarpa, Adriana Ceci
: The need for performing clinical trials to develop well-studied and appropriate medicines for inherited neurometabolic disease patients faces ethical concerns mainly raising from four aspects: the diseases are rare; include young and very young patients; the neurological impairment may compromise the capability to provide 'consent'; and the genetic nature of the disease leads to further ethical implications. This work is intended to identify the ethical provisions applicable to clinical research involving these patients and to evaluate if these cover the ethical issues...
January 16, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28093631/-retinal-artery-occlusion
#8
N Feltgen, A Pielen
Retinal artery occlusion leads to profound visual impairment in the affected eye. It is rarely caused by local ophthalmic pathologies. Most patients present with a large number of cardio- and cerebrovascular risk factors. Visual loss is the leading symptom in central retinal artery occlusion (CRAO), whereas a circumscribed visual field defect is claimed in branch retinal artery occlusion (BRAO). Although many attempts have been made to improve the course of the disease, no effective therapy is available. There is some hope that intravenous fibrinolysis could influence the natural course but the therapeutic window is small (ca...
January 16, 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/28093303/chlorogenic-acid-rescues-sensorineural-auditory-function-in-a-diabetic-animal-model
#9
Bin Na Hong, Youn Hee Nam, Sang Ho Woo, Tong Ho Kang
Recently, many studies have reported that sensorineural hearing impairment related to neurological disorders may be caused by diabetes mellitus. However, to date, only a small number of studies have investigated the treatment of sensorineural hearing impairment. In the present study, the effects of chlorogenic acid on diabetic auditory pathway impairment were evaluated by neuro-electrical physiological measurements and morphological investigations. We have shown that CA efficiently prevents the progression of auditory pathway dysfunction caused by DM using auditory brainstem responses and auditory middle latency responses in mice...
January 13, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28092567/inter-joint-coordination-deficits-revealed-in-the-decomposition-of-endpoint-jerk-during-goal-directed-arm-movement-after-stroke
#10
Jozsef Laczko, Robert Arthur Scheidt, Lucia S Simo, Davide Piovesan
It is well-documented that neurological deficits after stroke can disrupt motor control processes that affect the smoothness of reaching movements. The smoothness of hand trajectories during multi-joint reaching depends on shoulder and elbow joint angular velocities and their successive derivatives as well as on the instantaneous arm configuration and its rate of change. Right-handed survivors of unilateral hemiparetic stroke and neurologically-intact control participants held the handle of a two-joint robot and made horizontal planar reaching movements...
January 16, 2017: IEEE Transactions on Neural Systems and Rehabilitation Engineering
https://www.readbyqxmd.com/read/28092376/infectious-immunity-in-the-central-nervous-system-and-brain-function
#11
REVIEW
Robyn S Klein, Charise Garber, Nicole Howard
Inflammation is emerging as a critical mechanism underlying neurological disorders of various etiologies, yet its role in altering brain function as a consequence of neuroinfectious disease remains unclear. Although acute alterations in mental status due to inflammation are a hallmark of central nervous system (CNS) infections with neurotropic pathogens, post-infectious neurologic dysfunction has traditionally been attributed to irreversible damage caused by the pathogens themselves. More recently, studies indicate that pathogen eradication within the CNS may require immune responses that interfere with neural cell function and communication without affecting their survival...
January 16, 2017: Nature Immunology
https://www.readbyqxmd.com/read/28092091/preliminary-results-on-long-term-potentiation-like-cortical-plasticity-and-cholinergic-dysfunction-after-miglustat-treatment-in-niemann-pick-disease-type-c
#12
Alberto Benussi, Maria Sofia Cotelli, Maura Cosseddu, Valeria Bertasi, Marinella Turla, Ettore Salsano, Andrea Dardis, Alessandro Padovani, Barbara Borroni
Niemann-Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder, which manifests clinically with a wide range of neurological signs and symptoms. We assessed multiple neurological, neuropsychological and neurophysiological biomarkers using a transcranial magnetic stimulation (TMS) multi-paradigm approach in two patients with NPC carrying a homozygous mutation in the NPC1 gene, and in two heterozygous family members.We assessed short-interval intracortical inhibition (SICI), intracortical facilitation (ICF), long-interval intracortical inhibition (LICI), short-latency afferent inhibition (SAI) and long-term potentiation (LTP)-like cortical plasticity with a paired associative stimulation (PAS) protocol...
January 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28091829/inhibition-of-dpp-4-activity-and-neuronal-atrophy-with-genistein-attenuates-neurological-deficits-induced-by-transient-global-cerebral-ischemia-and-reperfusion-in-streptozotocin-induced-diabetic-mice
#13
Mithun Singh Rajput, Purnima Dey Sarkar, Nilesh Prakash Nirmal
Genistein, an isoflavonoid phytoestrogen, has been known for its potential pharmacological properties especially for neuroprotection and treating diabetes. The present study aims to determine the neuroprotective efficacy of genistein against global cerebral ischemia-reperfusion-induced neuronal injury in streptozotocin-induced diabetic mice and explore the underlying mechanisms. Streptozotocin-induced diabetic mice were subjected to transient cerebral ischemia by occluding both common carotid arteries for 30 min followed by 24 h reperfusion to induce neuronal injury...
January 16, 2017: Inflammation
https://www.readbyqxmd.com/read/28091609/leptin-sustains-spontaneous-remyelination-in-the-adult-central-nervous-system
#14
Ken Matoba, Rieko Muramatsu, Toshihide Yamashita
Demyelination is a common feature of many central nervous system (CNS) diseases and is associated with neurological impairment. Demyelinated axons are spontaneously remyelinated depending on oligodendrocyte development, which mainly involves molecules expressed in the CNS environment. In this study, we found that leptin, a peripheral hormone secreted from adipocytes, promoted the proliferation of oligodendrocyte precursor cells (OPCs). Leptin increased the OPC proliferation via in vitro phosphorylation of extracellular signal regulated kinase (ERK); whereas leptin neutralization inhibited OPC proliferation and remyelination in a mouse model of toxin-induced demyelination...
January 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28087172/endothelial-function-impairment-in-stemi-patients-with-out-of-hospital-cardiac-arrest-under-therapeutic-hypothermia-treatment
#15
Salvatore Brugaletta, Giancarla Scalone, Ana Paula Dantas, Luis Ortega-Paz, Manel Garabito, Mercè Roqué, Victoria Martin, Monica Masotti, Xavier Freixa, Manel Sabaté
BACKGROUND: Therapeutic hypothermia (HT) in out-of-hospital cardiac arrest STEMI patients aims to improve their neurological prognosis, but it has been associated with slow coronary flow and cardiac thrombotic events. We sought to serially assess endothelial function during the first 48h after admission in out-of-hospital cardiac arrest STEMI patients, under therapeutic hypothermia (HT). METHODS: From January 2015 to August 2015, eighteen consecutive out-of-hospital cardiac arrest STEMI patients eligible for primary PCI received HT at admission and were included in the study (HT group)...
January 6, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28081031/intracranial-hemorrhage-recurrence-on-vitamin-k-antagonist-severity-of-the-first-episode-and-hasbled-score-fail-to-identify-high-risk-patients-from-the-chirone-study
#16
Daniela Poli, Emilia Antonucci, Francesco Dentali, Sophie Testa, Gualtiero Palareti
The most feared complication of vitamin K antagonists (VKAs) treatment is intracranial hemorrhage (ICH). The previously published CHIRONE Study fails to identify risk factors associated with ICH recurrence after VKAs resumption. The aim of this secondary analysis of the study is to evaluate if patients who need surgery or with severe neurological sequelae after the first episode show a higher risk of ICH recurrence. The HASBLED score was used to stratify bleeding risk and to evaluate the distribution of recurrence in relation to each class of risk...
January 2017: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/28079875/early-postnatal-illness-severity-scores-predict-neurodevelopmental-impairments-at-10-years-of-age-in-children-born-extremely-preterm
#17
J W Logan, O Dammann, E N Allred, C Dammann, K Beam, R M Joseph, T M O'Shea, A Leviton, K C K Kuban
OBJECTIVE: A neonatal illness severity score, The Score for Neonatal Acute Physiology-II (SNAP-II), predicts neurodevelopmental impairments at two years of age among children born extremely preterm. We sought to evaluate to what extent SNAP-II is predictive of cognitive and other neurodevelopmental impairments at 10 years of age. STUDY DESIGN: In a cohort of 874 children born before 28 weeks of gestation, we prospectively collected clinical, physiologic and laboratory data to calculate SNAP-II for each infant...
January 12, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28079862/extra-neuronal-pathology-in-a-canine-model-of-cln2-neuronal-ceroid-lipofuscinosis-after-intracerebroventricular-gene-therapy-that-delays-neurological-disease-progression
#18
M L Katz, G C Johnson, S B Leach, B G Williamson, J R Coates, R E H Whiting, D P Vansteenkiste, M S Whitney
CLN2 neuronal ceroid lipofuscinosis is a hereditary lysosomal storage disease with primarily neurological signs that results from mutations in TPP1 which encodes the lysosomal enzyme tripeptidyl peptidase-1 (TPP1). Studies using a canine model for this disorder demonstrated that delivery of TPP1 enzyme to the cerebrospinal fluid (CSF) by intracerebroventricular administration of an AAV-TPP1 vector resulted in substantial delays in the onset and progression of neurological signs and prolongation of lifespan...
January 12, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28079661/femoral-neuropathy-following-spontaneous-retroperitoneal-hemorrhage-after-cardiac-surgery-a-case-report
#19
Dinah J White, F T Lytle
A woman underwent ascending aortic aneurysm repair, aortic root and valve replacement, and coronary artery bypass grafting. Her postoperative course was complicated by stroke and status epilepticus. With supportive care and antiepileptics, her neurologic status improved. Intravenous heparin and aspirin were initiated. On postoperative day 13, she developed a large retroperitoneal hematoma with femoral neuropathy. Because her hematoma was not amenable to percutaneous drainage or surgical evacuation, and considering her comorbidities, a conservative approach was elected...
January 11, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28078566/an-eye-tracking-controlled-neuropsychological-battery-for-cognitive-assessment-in-neurological-diseases
#20
Barbara Poletti, Laura Carelli, Federica Solca, Annalisa Lafronza, Elisa Pedroli, Andrea Faini, Stefano Zago, Nicola Ticozzi, Andrea Ciammola, Claudia Morelli, Paolo Meriggi, Pietro Cipresso, Dorothée Lulé, Albert C Ludolph, Giuseppe Riva, Vincenzo Silani
Traditional cognitive assessment in neurological conditions involving physical disability is often prevented by the presence of verbal-motor impairment; to date, an extensive motor-verbal-free neuropsychological battery is not available for such purposes. We adapted a set of neuropsychological tests, assessing language, attentional abilities, executive functions and social cognition, for eye-tracking (ET) control, and explored its feasibility in a sample of healthy participants. Thirty healthy subjects performed a neuropsychological assessment, using an ET-based neuropsychological battery, together with standard "paper and pencil" cognitive measures for frontal (Frontal Assessment Battery-FAB) and working memory abilities (Digit Sequencing Task) and for global cognitive efficiency (Montreal Cognitive Assessment-MoCA)...
January 11, 2017: Neurological Sciences
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