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Current Understanding of Humoral Immunity to Enterovirus D68.
Vogt MR, Crowe JE
(2018) J Pediatric Infect Dis Soc 7: S49-S53
MeSH Terms: Animals, Antibodies, Neutralizing, Disease Models, Animal, Enterovirus D, Human, Enterovirus Infections, Epitopes, Humans, Immunity, Humoral, Nervous System Diseases, Respiratory Tract Infections, Seroepidemiologic Studies, Vaccination, Viral Vaccines
Show Abstract · Added March 31, 2019
Enterovirus D68 (EV-D68) is a pathogen that causes outbreaks of respiratory illness across the world, mostly in children, and can be especially severe in those with asthma. Clusters of acute flaccid myelitis, a poliomyelitis-like neuromuscular weakness syndrome, often occur concurrent with EV-D68 respiratory outbreaks. Seroepidemiologic studies have found that the serum of nearly everyone older than 2 to 5 years contains anti-EV-D68 neutralizing antibodies, which suggests that EV-D68 is a ubiquitous pathogen of childhood. However, knowledge of the viral epitopes against which the humoral immune response is directed is only inferred from previous studies of related viruses. Although neutralizing antibodies protect newborn mice from lethal EV-D68 inoculation via nonphysiologic routes, cotton rats have a mixed phenotype of both benefit and possible exacerbation when inoculated intranasally. The human antibody response to EV-D68 needs to be studied further to clarify the role of antibodies in protection versus pathogenesis, which might differ among respiratory and neurologic disease phenotypes.
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Neurological symptoms in Hypophosphatasia.
Colazo JM, Hu JR, Dahir KM, Simmons JH
(2019) Osteoporos Int 30: 469-480
MeSH Terms: Adolescent, Adult, Aged, Alkaline Phosphatase, Child, Child, Preschool, Cross-Sectional Studies, Female, Humans, Hypophosphatasia, Male, Mental Disorders, Middle Aged, Nervous System Diseases, Prevalence, Retrospective Studies, United States, Vitamin B 6, Young Adult
Show Abstract · Added April 6, 2019
Hypophosphatasia (HPP) typically manifests with fractures, tooth loss, and muscle pain. Although mental health diagnoses and neurological symptoms have not been previously well documented in HPP, they occur commonly. The recognition of non-traditional symptoms may improve patient satisfaction, preempt costly evaluation and misdiagnosis, and lead to further treatment options.
INTRODUCTION - Hypophosphatasia (HPP) is an inborn error of metabolism due to deficiency of tissue non-specific alkaline phosphatase (TNSALP). It is traditionally characterized by rickets in children and osteomalacia in adults, along with fractures, tooth loss, and muscle pain. Neurological symptoms and mental health diagnoses have not been widely reported, and we therefore report their prevalence in a cohort of patients with HPP.
METHODS - A retrospective chart review was performed on a series of 82 HPP patients. Patient charts were reviewed to identify the possible presence and onset of 13 common neurological symptoms.
RESULTS - Median age was 36 years (2 to 79). Seventeen had adult onset HPP (> 18 years) and 65 had pediatric onset HPP (< 18 years). Median time from symptom onset to HPP diagnosis was 8 years (0 to 67). Seventy-four percent had a family history of bone disease, while 17% had a family history of neurologic disease. Bone problems occurred in 89%, dental problems in 77%, and muscle problems in 66%. Fatigue occurred in 66%, headache in 61%, sleep disturbance in 51%, gait change in 44%, vertigo in 43%, depression in 39%, anxiety in 35%, neuropathy in 35%, and hearing loss in 33%.
CONCLUSIONS - The extra-skeletal manifestations of HPP, specifically neurological symptoms, have not been previously well documented. However, mental health diagnoses and neurological symptoms such as headache and sleep disturbance occur commonly in patients with HPP. The recognition of non-traditional symptoms in HPP may improve patient satisfaction, preempt costly evaluation and misdiagnosis, and may lead to further treatment options.
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Delirium Monitoring in Neurocritically Ill Patients: A Systematic Review.
Patel MB, Bednarik J, Lee P, Shehabi Y, Salluh JI, Slooter AJ, Klein KE, Skrobik Y, Morandi A, Spronk PE, Naidech AM, Pun BT, Bozza FA, Marra A, John S, Pandharipande PP, Ely EW
(2018) Crit Care Med 46: 1832-1841
MeSH Terms: Critical Care, Critical Illness, Delirium, Female, Humans, Intensive Care Units, Male, Nervous System Diseases, Prospective Studies, Risk Assessment
Show Abstract · Added August 25, 2018
OBJECTIVES - The Society of Critical Care Medicine recommends routine delirium monitoring, based on data in critically ill patients without primary neurologic injury. We sought to answer whether there are valid and reliable tools to monitor delirium in neurocritically ill patients and whether delirium is associated with relevant clinical outcomes (e.g., survival, length of stay, functional independence, cognition) in this population.
DATA SOURCES - We systematically reviewed Cumulative Index to Nursing and Allied Health Literature, Web of Science, and PubMed.
STUDY SELECTION AND DATA EXTRACTION - Inclusion criteria allowed any study design investigating delirium monitoring in neurocritically ill patients (e.g., neurotrauma, ischemic, and/or hemorrhagic stroke) of any age. We extracted data relevant to delirium tool sensitivity, specificity, negative predictive value, positive predictive value, interrater reliability, and associated clinical outcomes.
DATA SYNTHESIS - Among seven prospective cohort studies and a total of 1,173 patients, delirium was assessed in neurocritically patients using validated delirium tools after considering primary neurologic diagnoses and associated complications, finding a pooled prevalence rate of 12-43%. When able to compare against a common reference standard, Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, the test characteristics showed a sensitivity of 62-76%, specificity of 74-98%, positive predictive value of 63-91%, negative predictive value of 70-94%, and reliability kappa of 0.64-0.94. Among four studies reporting multivariable analyses, delirium in neurocritically patients was associated with increased hospital length of stay (n = 3) and ICU length of stay (n = 1), as well as worse functional independence (n = 1) and cognition (n = 2), but not survival.
CONCLUSIONS - These data from studies of neurocritically ill patients demonstrate that patients with primary neurologic diagnoses can meet diagnostic criteria for delirium and that delirious features may predict relevant untoward clinical outcomes. There is a need for ongoing investigations regarding delirium in these complicated neurocritically ill patients.
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KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects.
Bowerman M, Salsac C, Bernard V, Soulard C, Dionne A, Coque E, Benlefki S, Hince P, Dion PA, Butler-Browne G, Camu W, Bouchard JP, Delpire E, Rouleau GA, Raoul C, Scamps F
(2017) Neurobiol Dis 106: 35-48
MeSH Terms: Agenesis of Corpus Callosum, Animals, Carbamazepine, Cells, Cultured, Chlorides, Disease Models, Animal, Mice, Inbred C57BL, Mice, Transgenic, Motor Neurons, Neuromuscular Junction, Neurotransmitter Agents, Peripheral Nervous System Diseases, Presynaptic Terminals, Sodium-Potassium-Exchanging ATPase, Spinal Cord, Symporters, Synaptic Transmission
Show Abstract · Added April 3, 2018
Loss-of-function mutations in the potassium-chloride cotransporter KCC3 lead to Andermann syndrome, a severe sensorimotor neuropathy characterized by areflexia, amyotrophy and locomotor abnormalities. The molecular events responsible for axonal loss remain poorly understood. Here, we establish that global or neuron-specific KCC3 loss-of-function in mice leads to early neuromuscular junction (NMJ) abnormalities and muscular atrophy that are consistent with the pre-synaptic neurotransmission defects observed in patients. KCC3 depletion does not modify chloride handling, but promotes an abnormal electrical activity among primary motoneurons and mislocalization of Na/K-ATPase α1 in spinal cord motoneurons. Moreover, the activity-targeting drug carbamazepine restores Na/K-ATPase α1 localization and reduces NMJ denervation in Slc12a6 mice. We here propose that abnormal motoneuron electrical activity contributes to the peripheral neuropathy observed in Andermann syndrome.
Copyright © 2017 Elsevier Inc. All rights reserved.
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Clinical and Genome-Wide Analysis of Cisplatin-Induced Peripheral Neuropathy in Survivors of Adult-Onset Cancer.
Dolan ME, El Charif O, Wheeler HE, Gamazon ER, Ardeshir-Rouhani-Fard S, Monahan P, Feldman DR, Hamilton RJ, Vaughn DJ, Beard CJ, Fung C, Kim J, Fossa SD, Hertz DL, Mushiroda T, Kubo M, Einhorn LH, Cox NJ, Travis LB, Platinum Study Group
(2017) Clin Cancer Res 23: 5757-5768
MeSH Terms: Adolescent, Adult, Age Factors, Age of Onset, Aged, Cancer Survivors, Cell Cycle Proteins, Cisplatin, Gene Expression Regulation, Neoplastic, Genome-Wide Association Study, Genotype, Humans, Hypertension, Male, Middle Aged, Neoplasm Proteins, Peripheral Nervous System Diseases, Polymorphism, Single Nucleotide, Risk Factors, Testicular Neoplasms
Show Abstract · Added October 27, 2017
Our purpose was to characterize the clinical influences, genetic risk factors, and gene mechanisms contributing to persistent cisplatin-induced peripheral neuropathy (CisIPN) in testicular cancer survivors (TCSs). TCS given cisplatin-based therapy completed the validated EORTC QLQ-CIPN20 questionnaire. An ordinal CisIPN phenotype was derived, and associations with age, smoking, excess drinking, hypertension, body mass index, diabetes, hypercholesterolemia, cumulative cisplatin dose, and self-reported health were examined for 680 TCS. Genotyping was performed on the Illumina HumanOmniExpressExome chip. Following quality control and imputation, 5.1 million SNPs in 680 genetically European TCS formed the input set. GWAS and PrediXcan were used to identify genetic variation and genetically determined gene expression traits, respectively, contributing to CisIPN. We evaluated two independent datasets for replication: Vanderbilt's electronic health database (BioVU) and the CALGB 90401 trial. Eight sensory items formed a subscale with good internal consistency (Cronbach α = 0.88). Variables significantly associated with CisIPN included age at diagnosis (OR per year, 1.06; = 2 × 10), smoking (OR, 1.54; = 0.004), excess drinking (OR, 1.83; = 0.007), and hypertension (OR, 1.61; = 0.03). CisIPN was correlated with lower self-reported health (OR, 0.56; = 2.6 × 10) and weight gain adjusted for years since treatment (OR per Δkg/m, 1.05; = 0.004). PrediXcan identified lower expressions of and and higher expression as associated with CisIPN ( value for each < 5 × 10) with replication of meeting significance criteria (Fisher combined = 0.0089). CisIPN is associated with age, modifiable risk factors, and genetically determined expression level of Further study of implicated genes could elucidate the pathophysiologic underpinnings of CisIPN. .
©2017 American Association for Cancer Research.
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20 MeSH Terms
Relationships Between Essential Manganese Biology and Manganese Toxicity in Neurological Disease.
Pfalzer AC, Bowman AB
(2017) Curr Environ Health Rep 4: 223-228
MeSH Terms: Aging, Central Nervous System Diseases, Humans, Manganese, Manganese Poisoning, Neurotoxicity Syndromes, Risk Factors
Show Abstract · Added April 26, 2017
PURPOSE OF REVIEW - Manganese (Mn) is critical for neurodevelopment but also has been implicated in the pathophysiology of several neurological diseases. We discuss how Mn requirements intersect with Mn biology and toxicity, and how these requirements may be altered in neurological disease. Furthermore, we discuss the emerging evidence that the level of Mn associated with optimal overall efficiency for Mn biology does not necessarily coincide with optimal cognitive outcomes.
RECENT FINDINGS - Studies have linked Mn exposures with urea cycle metabolism and autophagy, with evidence that exposures typically neurotoxic may be able to correct deficiencies in these processes at least short term. The line between Mn-dependent biology and toxicity is thus blurred. Further, new work suggests that Mn exposures correlating to optimal cognitive scores in children are associated with cognitive decline in adults. This review explores relationships between Mn-dependent neurobiology and Mn-dependent neurotoxicity. We propose the hypothesis that Mn levels/exposures that are toxic to some biological processes are beneficial for other biological processes and influenced by developmental stage and disease state.
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7 MeSH Terms
Urinary retention and catheter use among U.S. female Medicare beneficiaries: Prevalence and risk factors.
Cohn JA, Ni S, Kaufman MR, Graves AJ, Penson DF, Dmochowski RR, Reynolds WS
(2017) Neurourol Urodyn 36: 2101-2108
MeSH Terms: Aged, Aged, 80 and over, Case-Control Studies, Female, Humans, Logistic Models, Medicare, Multivariate Analysis, Nervous System Diseases, Pelvic Organ Prolapse, Prevalence, Risk Factors, United States, Urinary Catheterization, Urinary Retention, Urinary Tract Infections
Show Abstract · Added September 16, 2019
AIMS - To identify the prevalence of and risk factors for urinary retention and catheterization among female Medicare beneficiaries.
METHODS - We identified women with a diagnosis of urinary retention in a 5% sample of Medicare claims in 2012. Women were categorized into three groups based on the occurrence and duration of urinary catheterization within a 1 year period: 1) no catheterization; 2) short-term catheterization (ie, one or more catheterizations in less than 30 days); and 3) chronic catheterization (catheterizations in multiple 30 day periods within 1 year). We then identified a group of age-matched controls without catheterization or a diagnosis of urinary retention in 2012. Clinical and demographic data were collected for each patient, and risk factors for retention and catheterization were compared across groups. We assessed factors associated with urinary retention using multivariable logistic regression.
RESULTS - We estimated the rate of retention to be 1532 per 100 000 U.S. female Medicare beneficiaries in 2012, with rates of short term and chronic catheterization estimated to be 160 and 108 per 100 000 women, respectively. Prior diagnoses of neurologic condition, urinary tract infection, and pelvic organ prolapse were positively associated with retention and catheterization in multivariable analyses.
CONCLUSIONS - We estimated the prevalence of urinary retention diagnoses among female Medicare beneficiaries to be 1532 per 100 000 women. Retention and catheterization were significantly associated with comorbid disease, with the strongest associations identified with a concomitant diagnosis of neurologic condition, UTI, and POP.
© 2017 Wiley Periodicals, Inc.
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The KCC3 cotransporter as a therapeutic target for peripheral neuropathy.
Delpire E, Kahle KT
(2017) Expert Opin Ther Targets 21: 113-116
MeSH Terms: Animals, Humans, Mice, Peripheral Nervous System Diseases, Symporters
Added May 3, 2017
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5 MeSH Terms
Hyperinsulinemia and Insulin Resistance in Dopamine β-Hydroxylase Deficiency.
Arnold AC, Garland EM, Celedonio JE, Raj SR, Abumrad NN, Biaggioni I, Robertson D, Luther JM, Shibao CA
(2017) J Clin Endocrinol Metab 102: 10-14
MeSH Terms: Adolescent, Animals, Autonomic Nervous System Diseases, Dopamine beta-Hydroxylase, Droxidopa, Female, Humans, Hyperinsulinism, Insulin, Insulin Resistance, Mice, Norepinephrine, Prognosis
Show Abstract · Added March 14, 2018
Context - Dopamine β-hydroxylase (DBH) deficiency is a rare genetic disorder characterized by failure to convert dopamine to norepinephrine. DBH-deficient patients lack sympathetic adrenergic function and are therefore predisposed to orthostatic hypotension. DBH-deficient mice exhibit hyperinsulinemia, lower plasma glucose levels, and insulin resistance due to loss of tonic sympathetic inhibition of insulin secretion. The impact of DBH deficiency on glucose homeostasis in humans is unknown.
Case Description - We describe the metabolic profile of an adolescent female DBH-deficient patient. The patient underwent genetic testing, cardiovascular autonomic function testing, and evaluation of insulin secretion and sensitivity with hyperglycemic clamp under treatment-naive conditions. All procedures were repeated after 1 year of treatment with the norepinephrine prodrug droxidopa (300 mg, 3 times a day). Genetic testing showed a homozygous mutation in the DBH gene (rs74853476). Under treatment-naive conditions, she had undetectable plasma epinephrine and norepinephrine levels, resulting in sympathetic noradrenergic failure and orthostatic hypotension (-32 mm Hg supine to seated). She had high adiposity (41%) and fasting plasma insulin levels (25 μU/mL), with normal glucose (91 mg/dL). Hyperglycemic clamp revealed increased glucose-stimulated insulin secretion and insulin resistance. Droxidopa restored plasma norepinephrine and improved orthostatic tolerance, with modest effects on glucose homeostasis.
Conclusions - We provide evidence for impairment in cardiovascular autonomic regulation, hyperinsulinemia, enhanced glucose-stimulated insulin secretion, and insulin resistance in a DBH-deficient patient. These metabolic derangements were not corrected by chronic droxidopa treatment. These findings provide insight into the pathophysiology and treatment of DBH deficiency and into the importance of catecholaminergic mechanisms to resting metabolism.
Copyright © 2017 by the Endocrine Society
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13 MeSH Terms
Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter.
Kahle KT, Flores B, Bharucha-Goebel D, Zhang J, Donkervoort S, Hegde M, Hussain G, Duran D, Liang B, Sun D, Bönnemann CG, Delpire E
(2016) Sci Signal 9: ra77
MeSH Terms: Animals, Female, HEK293 Cells, Humans, Male, Mice, Mice, Mutant Strains, Motor Neurons, Mutation, Missense, Peripheral Nervous System Diseases, Phosphorylation, Symporters, WNK Lysine-Deficient Protein Kinase 1
Show Abstract · Added August 22, 2016
Using exome sequencing, we identified a de novo mutation (c.2971A>G; T991A) in SLC12A6, the gene encoding the K(+)-Cl(-) cotransporter KCC3, in a patient with an early-onset, progressive, and severe peripheral neuropathy primarily affecting motor neurons. Normally, the WNK kinase-dependent phosphorylation of T(991) tonically inhibits KCC3; however, cell swelling triggers Thr(991) dephosphorylation to activate the transporter and restore cell volume. KCC3 T991A mutation in patient cells abolished Thr(991) phosphorylation, resulted in constitutive KCC3 activity, and compromised cell volume homeostasis. KCC3(T991A/T991A) mutant mice exhibited constitutive KCC3 activity and recapitulated aspects of the clinical, electrophysiological, and histopathological findings of the patient. These results suggest that the function of the peripheral nervous system depends on finely tuned, kinase-regulated KCC3 activity and implicate abnormal cell volume homeostasis as a previously unreported mechanism of axonal degeneration.
Copyright © 2016, American Association for the Advancement of Science.
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13 MeSH Terms