نتائج البحث - "Valeria A Sansone"

91

DMD/BMD - GENETICS

المؤلفون: Rachele Rossi, Valeria A. Sansone, Francesca Gualandi, Maria Sofia Falzarano, Mingyan Fang, Rita Selvatici, Luca Bello, J. Lu, Alessandra Ferlini, Elena Pegoraro

المصدر: Neuromuscular Disorders. 31:S84

مصطلحات موضوعية: Genetics, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a24150e1c15ff2cd8fdc40fad212553Test
https://doi.org/10.1016/j.nmd.2021.07.142Test

92

The Myotonic Dystrophy Health Index: Italian validation of a disease-specific outcome measure

المؤلفون: Gaia Gragnano, Chad Heatwole, Marino Iatomasi, Andrea Lizio, Lucia Greco, A. Zanolini, Marco Gualandris, Valeria A. Sansone

المصدر: Neuromuscular Disorders. 27:1047-1053

الوصف: The Myotonic Dystrophy Health Index (MDHI) is a disease-specific, self-reported outcome measure that assesses total disease burden and 17 areas of Myotonic Dystrophy type 1 (DM1) specific health. This study translated the MDHI into Italian and validated the instrument using a cohort of Italian DM1 patients. Italian DM1 patients were interviewed regarding the form and content of the instrument. Thirty-eight DM1 patients were subsequently recruited to test the reliability and concurrent validity of the instrument by serially completing the MDHI and a battery of clinical tests. Lastly, we determined the internal consistency of the Italian MDHI and each of its subscales. The internal consistency was excellent in the total Italian MDHI score and acceptable in all of its subscales; the test-retest reliability was high (intraclass correlation coefficient = 0.95); Italian MDHI total scores and subscales were associated with neuromuscular function, cognitive and social health, respiratory function, and quality of life. Overall, the Italian MDHI is valid and well suited to measure the multi-dimensional aspects of disease burden in Myotonic Dystrophy clinical trials.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c17458fdde580e8b382b8b65f3a9c962Test
https://doi.org/10.1016/j.nmd.2017.07.004Test

93

Review of the Diagnosis and Treatment of Periodic Paralysis

المؤلفون: Stephen C. Cannon, Nicholas E. Johnson, Valeria A. Sansone, Bertrand Fontaine, John T. Kissel, Rabi Tawil, Perry B. Shieh, Jeffrey Statland, Robert C. Griggs, Michael G. Hanna, Jaya Trivedi

المصدر: Muscle & Nerve
Muscle & nerve, vol 57, iss 4
Statland, JM; Fontaine, B; Hanna, MG; Johnson, NE; Kissel, JT; Sansone, VA; et al.(2018). Review of the Diagnosis and Treatment of Periodic Paralysis. MUSCLE & NERVE, 57(4), 522-530. doi: 10.1002/mus.26009. UCLA: Retrieved from: http://www.escholarship.org/uc/item/0d47m060Test

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, Physiology, Hyperkalemic Periodic, Audiology, Medical and Health Sciences, 0302 clinical medicine, Andersen‐Tawil syndrome, Behavior Therapy, Paralysis, Medicine, Potassium Sparing, Invited Reviews, Carbonic Anhydrase Inhibitors, Diuretics, Andersen Syndrome, medicine.diagnostic_test, treatment, Periodic paralysis, Potassium channel, 3. Good health, medicine.anatomical_structure, Hydrochlorothiazide, Diuretics, Potassium Sparing, medicine.symptom, Acetazolamide, Anti-Arrhythmia Agents, medicine.drug, Weakness, medicine.medical_specialty, Hypokalemic Periodic Paralysis, review, periodic paralyses, Paralyses, Familial Periodic, 03 medical and health sciences, Cellular and Molecular Neuroscience, Andersen–Tawil syndrome, Paralyses, Physiology (medical), Humans, dichlorphenamide, Genetic testing, Neurology & Neurosurgery, Invited Review, Andersen-Tawil syndrome, business.industry, Familial Periodic, Skeletal muscle, medicine.disease, channelopathies, 030104 developmental biology, Potassium, Neurology (clinical), business, Paralysis, Hyperkalemic Periodic, 030217 neurology & neurosurgery

الوصف: Periodic paralyses (PPs) are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. PPs include hypokalemic paralysis, hyperkalemic paralysis, and Andersen‐Tawil syndrome. Common features of PP include autosomal dominant inheritance, onset typically in the first or second decades, episodic attacks of flaccid weakness, which are often triggered by diet or rest after exercise. Diagnosis is based on the characteristic clinic presentation then confirmed by genetic testing. In the absence of an identified genetic mutation, documented low or high potassium levels during attacks or a decrement on long exercise testing support diagnosis. The treatment approach should include both management of acute attacks and prevention of attacks. Treatments include behavioral interventions directed at avoidance of triggers, modification of potassium levels, diuretics, and carbonic anhydrase inhibitors. Muscle Nerve 57: 522–530, 2018

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98bfd4827cd1e764e8c9021906bfc96cTest
http://europepmc.org/articles/PMC5867231Test

94

Inflammatory role of dendritic cells in Amyotrophic Lateral Sclerosis revealed by an analysis of patients’ peripheral blood

المؤلفون: Christian Lunetta, Michela Rusconi, Francesca Gerardi, Valeria A. Sansone, Andrea Lizio, Francesca Granucci, Ivan Zanoni, William Santus

المساهمون: Rusconi, M, Gerardi, F, Santus, W, Lizio, A, Sansone, V, Lunetta, C, Zanoni, I, Granucci, F

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Lipopolysaccharide, Receptors, CCR2, Amyotrophic lateral sclerosis, dendritic cells, Science, Central nervous system, Inflammation, Article, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, Humans, Interleukin 8, L-Selectin, Amyotrophic lateral sclerosis, Interleukin 6, Chemokine CCL2, Multidisciplinary, biology, Interleukin-6, business.industry, Amyotrophic Lateral Sclerosis, Interleukin-8, Neurodegeneration, Dendritic Cells, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, chemistry, Immunology, biology.protein, Medicine, L-selectin, medicine.symptom, business, 030217 neurology & neurosurgery

الوصف: Chronic inflammation is one of the causes of neurodegeneration in Amyotrophic lateral sclerosis (ALS). Here we examined whether circulating dendritic cells (DCs) can contribute to disease progression. We found ALS patients show a significant reduction in the number of circulating DCs. Also, patients’ DCs present an increased expression of CD62L and a tendency to overexpress CCR2 compared with healthy donors. Moreover, DCs derived from a subpopulation of ALS patients produced higher levels of IL-8 and CCL-2 upon lipopolysaccharide (LPS)-stimulation. Finally, we found a significant inverse correlation between the time from onset of the pathology to its diagnosis and the levels of IL-6 secretion induced by LPS. Our data support the hypothesis, in a subpopulation of patients, DCs recruited at the diseased tissue produce high levels of CCL-2 and IL-8 and contribute to the inflammatory process promoting the recruitment of other inflammatory cells. An increased efficiency of IL-6 production may accelerate only the initial phases of disease progression. Blood DC analysis can be used to identify ALS patients with an altered course of inflammatory cell recruitment at the diseased central nervous system (CNS). The high levels of CD62L expression suggests this molecule could be a target for treatment of CNS inflammation.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06734a548acf72e3b7bc781d7bfc4dc2Test
https://doaj.org/article/74215155912e4d13868710927fcc8a11Test

95

Creatine kinase elevation: a neglected clue to the diagnosis of polymyositis. A case report

المؤلفون: Clementina Sitzia, Valeria A. Sansone, Massimiliano Marco Corsi Romanelli

المصدر: Clinical Chemistry and Laboratory Medicine (CCLM). 57:e149-e151

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::94bf21528f79287a9f1d1ced2ec4c28fTest
https://doi.org/10.1515/cclm-2018-0928Test

96

Reader Response: Nusinersen in Adult Patients With Spinal Muscular Atrophy: Observations From a Single Center

المؤلفون: Tim Hagenacker, Eugenio Mercuri, Valeria A. Sansone, Maggie C. Walter

المصدر: Neurology. 96:1061.2-1062

مصطلحات موضوعية: medicine.medical_specialty, Adult patients, business.industry, Spinal muscular atrophy, Objective Improvement, medicine.disease, SMA, Single Center, Surgery, Lumbar, medicine, Nusinersen, Neurology (clinical), Respiratory system, business

الوصف: Moshe-Lilie et al.1 retrospectively reviewed the charts of 22 patients with spinal muscular atrophy (SMA) 2 and SMA 3, 10 of whom received nusinersen. Nine patients had SMA 2, and 13 had SMA 3. Most patients had a long-standing disease duration, were wheelchair-bound, and had severe scoliosis, and half of the patients had respiratory problems. Patients were assessed mainly with Medical Research Council (MRC) scoring, and the median follow-up was 1 year. End points were objective motor gain or stability. The results of the study did not show objective improvement. In a relevant number of these few patients, lumbar puncture-associated severe side effects occurred. The authors conclude that the risk-benefit ratio of nusinersen in adult patients needs critical decision making.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f8e657e7189ee29f5a2327d9bc0f3207Test
https://doi.org/10.1212/wnl.0000000000012042Test

97

Reply

المؤلفون: Valeria A, Sansone, Eugenio, Mercuri

المصدر: The Journal of Pediatrics. 223:227-228

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Oligonucleotides, Humans, Spinal Muscular Atrophies of Childhood

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10f0f262be8aeb60e0a8def486138cd0Test
https://doi.org/10.1016/j.jpeds.2020.04.069Test

98

Use of the Intermittent Abdominal Pressure Ventilation to guarantee speech in a tracheostomized Amyotrophic Lateral Sclerosis patient

المؤلفون: Marino Iatomasi, Christian Lunetta, Valeria A. Sansone, Barbara Garabelli, E. De Mattia, Fabrizio Rao

المصدر: Revista Portuguesa de Pneumologia (English Edition), Vol 23, Iss 4, Pp 236-239 (2017)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9219bcfe435a978b61caa95001dfc808Test
https://doi.org/10.1016/j.rppnen.2017.03.002Test

99

Meditation training for people with amyotrophic lateral sclerosis: a randomized clinical trial

المؤلفون: Nilo Riva, Gabriella Rossi, Aurora Tagliaferri, Enrico Molinari, Paolo Banfi, Valeria A. Sansone, Gianluca Castelnuovo, Christian Lunetta, Massimo Corbo, Anna Marconi, Arianna Palmieri, Francesca Graziano, Ramona Gatto, Gian Mauro Manzoni, Eleonora Volpato, Gaia Gragnano, Francesco Pagnini, Viviana Fabiani

المساهمون: Pagnini, F, Marconi, A, Tagliaferri, A, Manzoni, G, Gatto, R, Fabiani, V, Gragnano, G, Rossi, G, Volpato, E, Banfi, P, Palmieri, A, Graziano, F, Castelnuovo, G, Corbo, M, Molinari, E, Riva, N, Sansone, V, Lunetta, C

المصدر: European Journal of Neurology. 24:578-586

مصطلحات موضوعية: Male, amyotrophic lateral sclerosis, medicine.medical_specialty, mindfulness, Mindfulness, meditation, media_common.quotation_subject, Population, Psychological intervention, Settore M-PSI/08 - PSICOLOGIA CLINICA, Anxiety, Hospital Anxiety and Depression Scale, law.invention, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Randomized controlled trial, law, Humans, Medicine, amyotrophic lateral sclerosi, 030212 general & internal medicine, Meditation, education, Aged, media_common, mindfulne, education.field_of_study, Depression, business.industry, clinical psychology, motor neuron disease, quality of life, Neurology, Neurology (clinical), Middle Aged, Treatment Outcome, Physical therapy, Female, medicine.symptom, business, Stress, Psychological, 030217 neurology & neurosurgery, Human, Clinical psychology

الوصف: Background and purpose Studies investigating psychological interventions for the promotion of well-being in people with amyotrophic lateral sclerosis (ALS) are lacking. The purpose of the current study was to examine the use of an ALS-specific mindfulness-based intervention for improving quality of life in this population. Methods A randomized, open-label and controlled clinical trial was conducted on the efficacy of an ALS-specific meditation programme in promoting quality of life. Adults who received a diagnosis of ALS within 18 months were randomly assigned either to usual care or to an 8-week meditation training based on the original mindfulness-based stress reduction programme and tailored for people with ALS. Quality of life, assessed with the ALS-Specific Quality of Life Revised scale, represented the primary outcome, whilst secondary outcomes included anxiety and depression, assessed with the Hospital Anxiety and Depression Scale, and specific quality of life domains. Participants were assessed at recruitment and after 2, 6 and 12 months. The efficacy of the treatment was assessed on an intention-to-treat basis of a linear mixed model. Results A hundred participants were recruited between November 2012 and December 2014. Over time, there was a significant difference between the two groups in terms of quality of life (β = 0.24, P = 0.015, d = 0.89). Significant differences between groups over time were also found for anxiety, depression, negative emotions, and interaction with people and the environment. Conclusions An ALS-specific meditation programme is beneficial for the quality of life and psychological well-being of people with ALS.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55db66caf3fe3ffaa22da4c90fc6c7ccTest
https://doi.org/10.1111/ene.13246Test

100

Elevated Levels of Selenium Species in Cerebrospinal Fluid of Amyotrophic Lateral Sclerosis Patients with Disease-Associated Gene Mutations

المؤلفون: Jessica Mandrioli, Christian Lunetta, Peter Grill, Valeria A. Sansone, Mario Sabatelli, Nikolay Solovyev, Marco Vinceti, Bernhard Michalke, Federica Violi, Amelia Conte

المصدر: Neurodegener. Dis. 17, 171-180 (2017)

مصطلحات موضوعية: Male, 0301 basic medicine, TUBA4A mutation, SOD1, Physiology, chemistry.chemical_element, Environment, Biology, Gene mutation, medicine.disease_cause, TARDBP, Amyotrophic lateral sclerosis, Cerebrospinal fluid, Gene mutations, Genetics, Selenium, Selenium species, 03 medical and health sciences, Superoxide Dismutase-1, 0302 clinical medicine, Tubulin, medicine, Genetic predisposition, Humans, Genetic Predisposition to Disease, Child, Ataxin-2, Amyotrophic Lateral Sclerosis, Cerebrospinal Fluid, Gene Mutations, Selenium Species, Tuba4a Mutation, Mutation, C9orf72 Protein, Female, Middle Aged, RNA-Binding Protein FUS, Environmental exposure, Neurology, Neurology (clinical), medicine.disease, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, chemistry, 030217 neurology & neurosurgery

الوصف: Background: Although an increasing role of genetic susceptibility has been recognized, the role of environmental risk factors in amyotrophic lateral sclerosis (ALS) etiology is largely uncertain; among neurotoxic chemicals, epidemiological and biological plausibility has been provided for pesticides, the heavy metal lead, the metalloid selenium, and other persistent organic pollutants. Selenium involvement in ALS has been suggested on the basis of epidemiological studies, in vitro investigations, and veterinary studies in which selenium induced a selective toxicity against motor neurons. Objective: Hypothesizing a multistep pathogenic mechanism (genetic susceptibility and environmental exposure), we aimed to study selenium species in ALS patients carrying disease-associated gene mutations as compared to a series of hospital controls. Methods: Using advanced analytical techniques, we determined selenium species in cerebrospinal fluid sampled at diagnosis in 9 ALS patients carrying different gene mutations (C9ORF72, SOD1, FUS, TARDBP, ATXN2, and TUBA4A) compared to 42 controls. Results: In a patient with the tubulin-related TUBA4A mutation, we found highly elevated levels (in μg/L) of glutathione-peroxidase-bound selenium (32.8 vs. 1.0) as well as increased levels of selenoprotein-P-bound selenium (2.4 vs. 0.8), selenite (1.8 vs. 0.1), and selenate (0.9 vs. 0.1). In the remaining ALS patients, we detected elevated selenomethionine-bound selenium levels (0.38 vs. 0.06). Conclusions: Selenium compounds can impair tubulin synthesis and the cytoskeleton structure, as do tubulin-related gene mutations. The elevated selenium species levels in the TUBA4A patient may have a genetic etiology and/or represent a pathogenic pathway through which this mutation favors disease onset, though unmeasured confounding cannot be excluded. The elevated selenomethionine levels in the other patients are also of interest due to the toxicity of this nonphysiological selenium species. Our study is the first to assess selenium exposure in genetic ALS, suggesting an interaction between this environmental factor and genetics in triggering disease onset.

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bef2343cb707832cb0102c5cb4199bd0Test
https://doi.org/10.1159/000460253Test

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