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1.
J Environ Manage ; 328: 116928, 2023 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-36521225

RESUMEN

Heterogeneous photocatalysis has been increasingly investigated during the past years and has been recognized as a promising technique for clean and safe water purification. The current study exploits the advantage of this technique demonstrating that the removal of a biorefractory water pollutant named clofibric acid can be really improved by photocatalysis through a parametric comprehensive investigation and optimization study based on response surface methodology. Its novelty comes from the approach used to enhance the efficiency of the photocatalytic degradation of clofibric acid. A custom central composite design consisting of 49 trials was applied for process modeling and a quadratic robust model was derived based on the analysis of variance for the optimization of the process parameters. The effective removal of the target molecule with about 70% carbon mineralization was achieved under optimal photocatalytic conditions: 1.5 mg/L as the initial concentration of pollutant, 0.61 g/L catalyst, and an irradiation time of 190 min. Further, it was provided that nitrates play a positive role in the removal of this pollutant, while hydrogenocarbonates slow down its elimination. The ecotoxicity evaluation at different trophic levels confirmed the low toxicity of photodegradation by-products. Data analysis demonstrated that response surface methodology is a reliable approach for the optimization of the interactive effects of photocatalytic process parameters and is able to enhance their performance for the complete elimination of this hardly removed water pollutant.


Asunto(s)
Contaminantes Químicos del Agua , Contaminantes del Agua , Fotólisis , Contaminantes Químicos del Agua/análisis , Catálisis
2.
Pharmacol Res ; 141: 224-235, 2019 03.
Artículo en Inglés | MEDLINE | ID: mdl-30611854

RESUMEN

Sodium channel myotonia and paramyotonia congenita are caused by gain-of-function mutations in the skeletal muscle voltage-gated sodium channel hNav1.4. The first-line drug is the sodium channel blocker mexiletine; however, some patients show side effects or limited responses. We previously showed that two hNav1.4 mutations, p.G1306E and p.P1158L, reduce mexiletine potency in vitro, whereas another sodium channel blocker, flecainide, is less sensitive to mutation-induced gating defects. This observation was successfully translated to p.G1306E and p.P1158L carriers. Thus, the aim of this study was to perform a pharmacological characterization of myotonic Nav1.4 mutations clustered near the fast inactivation gate of the channel. We chose seven mutations (p.V1293I, p.N1297S, p.N1297K, p.F1298C, p.G1306E, p.I1310N, and p.T1313M) from the database of Italian and French networks for muscle channelopathies. Recombinant hNav1.4 mutants were expressed in HEK293T cells for functional and pharmacological characterization using the patch-clamp technique. All the studied mutations impair the kinetics and/or voltage dependence of fast inactivation, which is likely the main mechanism responsible for myotonia. The severity of myotonia is well-correlated to the enhancement of window currents generated by the intersection of the activation and fast inactivation voltage dependence. Five of the six mutants displaying a significant positive shift of fast inactivation voltage dependence reduced mexiletine inhibition in an experimental condition mimicking myotonia. In contrast, none of the mutations impairs flecainide block nor does p.T1313M impair propafenone block, indicating that class Ic antiarrhythmics may constitute a valuable alternative. Our study suggests that mutation-driven therapy would be beneficial to myotonic patients, greatly improving their quality of life.


Asunto(s)
Trastornos Miotónicos/genética , Canal de Sodio Activado por Voltaje NAV1.4/genética , Adolescente , Adulto , Niño , Preescolar , Femenino , Células HEK293 , Humanos , Recién Nacido , Activación del Canal Iónico , Masculino , Persona de Mediana Edad , Mutación , Trastornos Miotónicos/tratamiento farmacológico , Adulto Joven
3.
Eur Neurol ; 82(4-6): 106-112, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-32018264

RESUMEN

OBJECTIVE: C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS). The aim of the present study was to determine whether C9ORF72-associated ALS (C9-ALS) patients present distinctive electrophysiological characteristics that could differentiate them from non C9ORF72-associated ALS (nonC9-ALS) patients. METHODS: Clinical and electrodiagnostic data from C9-ALS patients and nonC9-ALS patients were collected retrospectively. For electroneuromyography, the mean values of motor conduction, myography, and the mean values of sensory conduction were considered. Furthermore, the proportion of ALS patients with electrophysiological sensory neuropathy was determined. RESULTS: No significant difference was observed between 31 C9-ALS patients and 22 nonC9-ALS patients for mean motor conduction and myography. For sensory conduction analyses, mean sensory conduction was not significantly different between both groups. In total, 38% of -C9-ALS patient and 21% of nonC9-ALS patients presented electrophysiological sensory neuropathy (p = 0.33). In -C9-ALS patients with electrophysiological sensory neuropathy, 80% (8/10) were male and 67% (6/9) presented spinal onset compare to 25% (4/16, p = 0.014) male and 25% (4/16, p = 0.087) with spinal onset in those without electrophysiological sensory neuropathy. CONCLUSION: Although not different from nonC9-ALS, these results suggest that sensory involvement is a frequent feature of C9-ALS patients, expanding the phenotype of the disease beyond the motor and cognitive domains.


Asunto(s)
Esclerosis Amiotrófica Lateral/genética , Esclerosis Amiotrófica Lateral/fisiopatología , Proteína C9orf72/genética , Anciano , Esclerosis Amiotrófica Lateral/diagnóstico , Electrofisiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Fenotipo , Estudios Retrospectivos
4.
J Neurol Neurosurg Psychiatry ; 89(5): 499-505, 2018 05.
Artículo en Inglés | MEDLINE | ID: mdl-29070644

RESUMEN

OBJECTIVE: To assess the clinicopathological and therapeutic features of patients with low (≥1000 to <10 000 Bühlmann Titre Units) (BTU), medium (10 000-70 000) or high (≥70 000) anti-myelin-associated glycoprotein (anti-MAG) antibody titres. METHODS: We retrospectively and prospectively analysed standardised report forms and medical records of 202 patients from 14 neuromuscular centres. RESULTS: Mean age at onset and mean time between symptom onset to last follow-up were respectively 62.6 years (25-91.4) and 8.4 years (0.3-33.3). Anti-MAG antibody titres at diagnosis were low, medium or high in 11%, 51% and 38% of patients. Patients presented with monoclonal gammopathy of undetermined significance in 68% of cases. About 17% of patients presented with 'atypical' clinical phenotype independently of anti-MAG titres, including acute or chronic sensorimotor polyradiculoneuropathies (12.4%), and asymmetric or multifocal neuropathy (3%). At the most severe disease stage, 22.4% of patients were significantly disabled. Seventy-eight per cent of patients received immunotherapies. Transient clinical worsening was observed in 12% of patients treated with rituximab (11/92). Stabilisation after rituximab treatment during the 7-12-month follow-up period was observed in 29% of patients. Clinical response to rituximab during the 6-month and/or 7-12-month follow-up period was observed in 31.5% of patients and correlated with anti-MAG titre ≥10 000 BTU. CONCLUSION: Our study highlights the extended clinical spectrum of patients with anti-MAG neuropathy, which appears unrelated to antibody titre. Besides, it may also suggest beneficial use of rituximab in the early phase of anti-MAG neuropathy.


Asunto(s)
Autoanticuerpos/sangre , Glicoproteína Asociada a Mielina/inmunología , Paraproteinemias/tratamiento farmacológico , Polineuropatías/tratamiento farmacológico , Polineuropatías/inmunología , Rituximab/uso terapéutico , Adulto , Anciano , Anciano de 80 o más Años , Quimioterapia Combinada , Femenino , Humanos , Factores Inmunológicos/uso terapéutico , Inmunosupresores/uso terapéutico , Masculino , Persona de Mediana Edad , Paraproteinemias/sangre , Paraproteinemias/inmunología , Polineuropatías/sangre , Estudios Prospectivos , Estudios Retrospectivos
5.
Muscle Nerve ; 57(2): 217-221, 2018 02.
Artículo en Inglés | MEDLINE | ID: mdl-28407266

RESUMEN

INTRODUCTION: In young patients with mononeuropathy who lack family history and precipitating factors, hereditary neuropathy with liability to pressure palsy (HNPP) may be a possibility. Our objective is to propose neurophysiological criteria for HNPP in patients <30 years of age. METHODS: We conducted a national multicenter retrospective clinical and neurophysiological study in patients under 30 with genetically confirmed HNPP. RESULTS: All of the 51 patients included in the study had at least 1 demyelinating pattern in 2 asymptomatic nerves, and 3 abnormalities were found in almost 90%, including slowed motor nerve conduction velocity across the elbow in at least 1 ulnar nerve (97.5%), increased distal motor latency (DML) in at least 1 fibular nerve (95.8%), and increased DML in both median nerves (89%). Age influenced DML slightly only in the fibular nerve. DISCUSSION: Dissemination of nerve involvement in HNPP incites to perform a complete nerve conduction study. including bilateral ulnar, fibular, and median nerves. Muscle Nerve 57: 217-221, 2018.


Asunto(s)
Electrodiagnóstico/normas , Neuropatía Hereditaria Motora y Sensorial/fisiopatología , Nervios Periféricos/fisiopatología , Adolescente , Adulto , Edad de Inicio , Envejecimiento , Niño , Enfermedades Desmielinizantes/complicaciones , Enfermedades Desmielinizantes/patología , Femenino , Neuropatía Hereditaria Motora y Sensorial/complicaciones , Neuropatía Hereditaria Motora y Sensorial/diagnóstico , Humanos , Masculino , Nervio Mediano/fisiopatología , Neuronas Motoras , Conducción Nerviosa , Parálisis , Nervio Peroneo/fisiopatología , Presión , Estudios Retrospectivos , Nervio Cubital/fisiopatología , Adulto Joven
6.
Muscle Nerve ; 53(5): 717-25, 2016 May.
Artículo en Inglés | MEDLINE | ID: mdl-26852139

RESUMEN

OBJECTIVE: We evaluated the efficacy and safety of amifampridine phosphate (Firdapse(®)) for symptomatic treatment in Lambert-Eaton myasthenic syndrome (LEMS). METHODS: Phase 3, randomized, double-blind, study. Patients were treated initially with amifampridine phosphate for 7-91 days, followed by randomization to continue amifampridine phosphate for 14 days or placebo (7-day taper, 7-day placebo). The primary efficacy endpoints were changes from baseline at day 14 in Quantitative Myasthenia Gravis and Subject Global Impression scores. RESULTS: The coprimary efficacy end points and 1 of the secondary efficacy end points were met, showing a significant benefit of aminfampridine phosphate over placebo at Day 14. All 5 primary, secondary, and tertiary endpoints achieved statistical significance at Day 8. Amifampridine phosphate was well tolerated; the most common adverse events were oral and digital paresthesias, nausea, and headache. CONCLUSIONS: This study provides Class I evidence of efficacy of amifampridine phosphate as a symptomatic treatment for LEMS.


Asunto(s)
4-Aminopiridina/análogos & derivados , Síndrome Miasténico de Lambert-Eaton/tratamiento farmacológico , Fuerza Muscular , Fosfatos/uso terapéutico , Bloqueadores de los Canales de Potasio/uso terapéutico , 4-Aminopiridina/uso terapéutico , Adulto , Anciano , Anciano de 80 o más Años , Amifampridina , Canales de Calcio/inmunología , Método Doble Ciego , Femenino , Humanos , Síndrome Miasténico de Lambert-Eaton/inmunología , Masculino , Persona de Mediana Edad , Resultado del Tratamiento , Adulto Joven
7.
Ann Surg ; 261(1): 213-20, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24646555

RESUMEN

BACKGROUND: The clinic era of composite tissue allotransplantation was inaugurated by hand allotransplantation in 1998, giving rise to many controversies and scepticism because of the lifelong immunosuppression, the unclear risk-benefit ratio, and the uncertain long-term functional results of the procedure. The aim of this study was to evaluate the outcomes and the risk/benefit balance in bilateral hand allotransplantation. METHODS: The study included 5 cases of bilateral hand allotransplantation performed in a single center, with a follow-up ranging from 3 to 13 years. The recipients (4 men, 1 woman) were young. The level of amputation was distal in all cases except for 2 patients amputated at the midforearm level. All the recipients initially received the same immunosuppressive treatment that included tacrolimus, mycophenolate mofetil, prednisone, and, for induction, antithymocyte globulins. RESULTS: Patient and graft survival was 100%. All recipients showed adequate sensorimotor recovery (protective and tactile sensitivity and partial recovery of intrinsic muscles), they were able to perform the majority of activities of daily living, and had a normal social life. Most complications occurred in the first posttransplant year and were successfully managed. All recipients experienced at least 1 episode of acute rejection, which was easily reversed by increasing oral steroid dose or by intravenous steroids, except for patient 3, who presented 6 episodes of acute rejection, the latest 2 treated with Campath-1H. CONCLUSIONS: Although bilateral hand transplantation may be a satisfactory treatment option for amputees, a careful selection of candidates and a rigorous evaluation of recipients after transplantation are imperative.


Asunto(s)
Trasplante de Mano , Actividades Cotidianas , Suero Antilinfocítico/uso terapéutico , Femenino , Estudios de Seguimiento , Rechazo de Injerto/prevención & control , Supervivencia de Injerto , Fuerza de la Mano , Trasplante de Mano/efectos adversos , Trasplante de Mano/métodos , Humanos , Inmunosupresores/uso terapéutico , Masculino , Ácido Micofenólico/análogos & derivados , Ácido Micofenólico/uso terapéutico , Satisfacción del Paciente , Prednisona/uso terapéutico , Recuperación de la Función , Medición de Riesgo , Tacrolimus/uso terapéutico , Tacto , Trasplante Homólogo
8.
Bioresour Technol ; 406: 131021, 2024 Jun 21.
Artículo en Inglés | MEDLINE | ID: mdl-38909868

RESUMEN

The ongoing discussion regarding the use of mixed or pure cultures of hydrogenotrophic methanogenic archaea in Power-to-Methane (P2M) bioprocess applications persists, with each option presenting its own advantages and disadvantages. To address this issue, a comparison of methane (CH4) yield between a novel methanogenic archaeon belonging to the species Methanothermobacter marburgensis (strain Clermont) isolated from a biological methanation column, and the community from which it originated, was conducted. This comparison included the type strain M. marburgensis str. Marburg. The evaluation also examined how exposure to oxygen (O2) for up to 240 min impacted the CH4 yield across these cultures. While both Methanothermobacter strains exhibit comparable CH4 yield, slightly higher than that of the mixed adapted culture under non-O2-exposed conditions, strain Clermont does not display the lag time observed for strain Marburg.

9.
Clin Lab ; 59(11-12): 1277-87, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24409662

RESUMEN

BACKGROUND: To assess the performance of commercial anti-ganglioside antibody assays, we determined anti-ganglioside antibody IgG and IgM isotype profiles of patients with acute and chronic well-characterized immune-mediated peripheral neuropathies by one immunodot assays (Zentec/Ingen: Dotzen Ganglio Profile Ab, Euroimmun/BioAdvance: Euroline ganglioprofile), two line-immuno assay (GA Generic Assays/Labodia: Anti-Gangli osid Dot, Euroimmun/BioAdvance: Euroline ganglioprofile), and one enzyme-linked immunosorbent assay (ELISA) (Bühlmann: GanglioCombi). Specific antibody profiles were compared with those obtained by our validated standard in-house immunodot assay (IDA). METHODS: We selected 33 sera with high levels of IgG and IgM anti-ganglioside antibodies from 15 patients with Guillain-Barre syndrome (GBS) subtypes and variants, 12 patients with CANOMAD syndrome (chronic ataxic neuropathy with ophthalmoplegia, M-paraprotein, cold agglutinins, disialosyl antibodies), 5 patients with chronic motor peripheral neuropathies, and 1 patient with sensory neuropathy and a control group composed of 10 patients with non-autoimmune neuropathy. RESULTS: The 3 commercial IDAs employing hydrophobic membranes and the ELISA demonstrated different carbohydrate epitopes on 6 to 12 glycolipid antigens used for anti-ganglioside antibody detection. Comparison with the validated in-house IDA showed large variations in sensitivity between tests and a more diverse reactivity to gangliosides than expected. The test with the largest panel of glycolipids detecting 11 anti-ganglioside antibody reactivities (GM1, GM2, GM3, GM4, GD1a, GD1b, GD2, GD3, GT1a, GT1b, GQ1b, and sulfatide) revealed the best concordance with our in-house assay. However, even with this test, differences were observed in the immunoreactivity against some gangliosides and weakly stained bands were not easy to interpret. CONCLUSIONS: Our data suggest an urgent need for standardization of commercial anti-ganglioside assays and the introduction of international anti-ganglioside antibody reference standards.


Asunto(s)
Autoanticuerpos/sangre , Gangliósidos/inmunología , Enfermedades del Sistema Nervioso Periférico/inmunología , Juego de Reactivos para Diagnóstico , Ensayo de Inmunoadsorción Enzimática , Humanos , Enfermedades del Sistema Nervioso Periférico/sangre
10.
Sci Rep ; 13(1): 22045, 2023 12 12.
Artículo en Inglés | MEDLINE | ID: mdl-38086908

RESUMEN

An in situ microscope based on pulsed transmitted light illumination via optical fiber was combined to artificial-intelligence to enable for the first time an online cell classification according to well-known cellular morphological features. A 848 192-image database generated during a lab-scale production process of antibodies was processed using a convolutional neural network approach chosen for its accurate real-time object detection capabilities. In order to induce different cell death routes, hybridomas were grown in normal or suboptimal conditions in a stirred tank reactor, in the presence of substrate limitation, medium addition, pH regulation problem or oxygen depletion. Using such an optical system made it possible to monitor real-time the evolution of different classes of animal cells, among which viable, necrotic and apoptotic cells. A class of viable cells displaying bulges in feast or famine conditions was also revealed. Considered as a breakthrough in the catalogue of process analytical tools, in situ microscopy powered by artificial-intelligence is also of great interest for research.


Asunto(s)
Reactores Biológicos , Microscopía , Animales , Microscopía/métodos , Hibridomas , Mamíferos
11.
J Neurol ; 270(12): 5819-5826, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37592137

RESUMEN

BACKGROUND: Myasthenia gravis (MG) is an autoimmune disease treated with acetylcholinesterase inhibitors and immunosuppressant/immunomodulatory drugs. MG is frequently diagnosed in elderly patients, a fragile population in which treatment adverse effects (TAE) have not been evaluated until now. METHODS: We retrospectively analysed the files of all MG patients with disease onset after age 70 years in four French University Hospitals, including clinical, electrophysiological, biological, and treatment data, with an emphasis on TAE. MG outcomes were assessed using the Myasthenia Gravis Foundation of America (MGFA) status scale. RESULTS: We included 138 patients (59% of men) with a mean follow-up of 4.5 years (range 1-19). Mean age at diagnosis was 78 years (70-93). Anti-acetylcholine receptor antibodies were found in 87% of cases, electrophysiological abnormalities in 82%, and thymoma in 10%. MG outcome was good in a majority of cases, with 76% of treated patients presenting with alleviated symptoms at follow-up. TAE were observed in 41% of patients, including severe TAE in 14% of cases. Seven patients (5.1%) died, including four (2.9%) from MG-related respiratory failure, and three (2.2%) from MG treatment-related complications, i.e., sepsis in 2 cases and brain toxoplasmosis in 1 case. TAE were observed in 53% of patients treated with azathioprine, 23% of patients treated with corticosteroids, and 15% of patients treated with mycophenolate mofetil. CONCLUSIONS: This retrospective study demonstrates MG in the elderly presents with a significant iatrogenic risk, including fatal immunosuppressant-related infections.


Asunto(s)
Miastenia Gravis , Neoplasias del Timo , Masculino , Humanos , Anciano , Anciano de 80 o más Años , Estudios Retrospectivos , Acetilcolinesterasa , Miastenia Gravis/complicaciones , Inmunosupresores/efectos adversos , Neoplasias del Timo/tratamiento farmacológico , Enfermedad Iatrogénica/epidemiología
12.
Artículo en Inglés | MEDLINE | ID: mdl-36522170

RESUMEN

OBJECTIVES: Rippling muscle disease (RMD) is characterized by muscle stiffness, muscle hypertrophy, and rippling muscle induced by stretching or percussion. Hereditary RMD is due to sequence variants in the CAV3 and PTRF/CAVIN1 genes encoding Caveolin-3 or Cavin-1, respectively; a few series of patients with acquired autoimmune forms of RMD (iRMD) associated with AChR antibody-positive myasthenia gravis and/or thymoma have also been described. Recently, MURC/caveolae-associated protein 4 (Cavin-4) autoantibody was identified in 8 of 10 patients without thymoma, highlighting its potential both as a biomarker and as a triggering agent of this pathology. Here, we report the case of a patient with iRMD-AchR antibody negative associated with thymoma. METHODS: We suspected a paraneoplastic origin and investigated the presence of specific autoantibodies targeting muscle antigens through a combination of Western blotting and affinity purification coupled with mass spectrometry-based proteomic approaches. RESULTS: We identified circulating MURC/Cavin-4 autoantibodies and found strong similarities between histologic features of the patient's muscle and those commonly reported in caveolinopathies. Strikingly, MURC/Cavin-4 autoantibody titer strongly decreased after tumor resection and immunotherapy correlating with complete disappearance of the rippling phenotype and full patient remission. DISCUSSION: MURC/Cavin-4 autoantibodies may play a pathogenic role in paraneoplastic iRMD associated with thymoma.


Asunto(s)
Miastenia Gravis , Timoma , Neoplasias del Timo , Humanos , Timoma/complicaciones , Autoanticuerpos , Proteómica , Miastenia Gravis/complicaciones , Miastenia Gravis/diagnóstico , Neoplasias del Timo/complicaciones , Neoplasias del Timo/diagnóstico
13.
Am J Epidemiol ; 174(3): 326-35, 2011 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-21652600

RESUMEN

The role of influenzalike illnesses and influenza vaccination in the development of Guillain-Barré syndrome (GBS), particularly the role of A/H1N1 epidemics and A/H1N1 vaccination, is debated. Data on all incident GBS cases meeting the Brighton Collaboration criteria that were diagnosed at 25 neurology centers in France were prospectively collected between March 2007 and June 2010, covering 3 influenzavirus seasons, including the 2009-2010 A/H1N1 outbreak. A total of 457 general practitioners provided a registry of patients from which 1,080 controls were matched by age, gender, index date (calendar month), and region to 145 cases. Causal relations were assessed by multivariate case-control analysis with adjustment for risk factors (personal and family history of autoimmune disorders, among others), while matching on age, gender, and calendar time. Influenza (seasonal or A/H1N1) or influenzalike symptoms in the 2 months preceding the index date was associated with GBS, with a matched odds ratio of 2.3 (95% confidence interval (CI): 0.7, 8.2). The difference in the rates of GBS occurring between influenza virus circulation periods and noncirculation periods was highly statistically significant (P = 0.004). Adjusted odds ratios for GBS occurrence within 6 weeks after seasonal and A/H1N1 vaccination were 1.3 (95% CI: 0.4, 4.1) and 0.9 (95% CI: 0.1, 7.6), respectively. Study results confirm that influenza virus is a likely risk factor for GBS. Conversely, no new concerns have arisen regarding influenza vaccination.


Asunto(s)
Síndrome de Guillain-Barré/epidemiología , Subtipo H1N1 del Virus de la Influenza A , Vacunas contra la Influenza/uso terapéutico , Gripe Humana/epidemiología , Adolescente , Adulto , Factores de Edad , Anciano , Estudios de Casos y Controles , Niño , Preescolar , Intervalos de Confianza , Brotes de Enfermedades/estadística & datos numéricos , Femenino , Francia/epidemiología , Síndrome de Guillain-Barré/etiología , Humanos , Vacunas contra la Influenza/efectos adversos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Factores de Riesgo , Factores Sexuales , Adulto Joven
14.
Can J Neurol Sci ; 38(1): 112-8, 2011 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-21156439

RESUMEN

OBJECTIVE: The aim of this study was to evaluate whether magnetic resonance imaging (MRI) can be used as a noninvasive approach to assessment of disease severity and muscle damage in Myotonic Dystrophy type 1 (DM1). METHODS: The MRI findings in legs of 41 patients with DM1 were evaluated with respect to the tibialis anterior (TA) skeletal muscle impairment. Magnetic resonance imaging findings were compared with TA strength measurements obtained by quantitative manual testing, duration of the disease and with the length of the CTG repeats. RESULTS: Muscle MRI abnormalities were observed in 80% of DM1 patients, ranging from edema-like abnormalities alone to severe atrophy/fatty replacement. Edema-like abnormalities seem to be an earlier MRI marker of the disease. Fatty infiltration/atrophy correlated with the TA muscle force (r = 0.95), the severity (P = 0.00001) of the disease but not with the duration of the disease (P = 0.3) or the length of the CTG repeats (P > 0.10), measured in peripheral leukocytes. Evaluation of other muscles of the legs revealed that the medial gastrocnemius and soleus muscles were the most frequently and severely affected muscles, while tibialis posterior muscles were relatively spared. Edema-like abnormalities are most frequently observed in the skeletal muscles of the anterior compartment. CONCLUSION: Muscle MRI is helpful to depict muscle abnormalities but does not seem to be a reliable indicator of skeletal muscle involvement in DM1 since the decrease in TAmuscle force is not correlated with MRI abnormalities in some patients.


Asunto(s)
Pierna , Imagen por Resonancia Magnética/métodos , Músculo Esquelético/patología , Adulto , Canadá , Progresión de la Enfermedad , Femenino , Estudios de Seguimiento , Francia , Humanos , Masculino , Persona de Mediana Edad , Distrofia Miotónica/diagnóstico , Examen Neurológico/métodos , Estadística como Asunto , Adulto Joven
15.
J Med Genet ; 47(12): 795-6, 2010 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-20930056

RESUMEN

Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders that give rise to a defect in neuromuscular transmission. We described here three patients with a characteristic phenotype of recessive CMS and presenting mutation in the gene encoding rapsyn (RAPSN). Familial analysis showed that one allelic mutation failed to be detected by direct sequencing. An allelic quantification on patient's DNA identified three novel multi-exon deletions of RAPSN. These three genomic rearrangements in RAPSN represent 15% of our CMS patients with RAPSN mutations and we emphasize that single-nucleotide polymorphism markers and a gene dosage method should be performed in addition to DNA direct sequencing analysis particularly when there is a genetic counselling issue.


Asunto(s)
Exones/genética , Proteínas Musculares/genética , Síndromes Miasténicos Congénitos/genética , Análisis de Secuencia de ADN , Eliminación de Secuencia/genética , Adolescente , Adulto , Niño , Femenino , Humanos , Lactante , Recién Nacido , Adulto Joven
16.
Ann Biol Clin (Paris) ; 69(4): 476-80, 2011.
Artículo en Francés | MEDLINE | ID: mdl-21896416

RESUMEN

We reported the laboratory phenotype of a monoclonal IgM-lambda against disialylated gangliosides, in a 81-year-old man admitted to a neurological department because of the progressive development of distal paresthesias, gait unsteadiness, difficulty to walk and having falls. Serological studies revealed an IgM monoclonal protein with lambda light chain component of MGUS type. IgM level was 4 g/L. The positive laboratory studies showed high titers of IgM antibodies in excess of 1/10(5) against specific disialylated gangliosides including GD1b, GD3, GT1b and GQ1b. There was no serum IgM binding to MAG and SGPG/SGLPG. Clonality by in-house immunodot of ganglioside antibodies was demonstrated using kappa and lambda light chain specific antibodies. Light chain subtype of the anti-ganglioside antibody activity and monoclonal IgM was lambda subtype. The reactivity at high titers was against gangliosides containing the disialosyl epitope. The clinical and laboratory features have been described under the acronym CANOMAD: Chronic Ataxic Neuropathy with Ophthalmoplegia, M proteins, cold Agglutinins and Disialosyl antibodies. Administration of IVIg produced a significant neurological improvement during six years. Then the neuropathy became refractory in the IVIg and worsened in severity, a cure by Rituximab® was established. The patient died from a pneumopathy only two months later. Monoclonal IgM binding to disialylated gangliosides have high level of specificity for diagnosis of the CANOMAD syndrome.


Asunto(s)
Anemia Hemolítica Autoinmune/diagnóstico , Anemia Hemolítica Autoinmune/inmunología , Anticuerpos Monoclonales/sangre , Ataxia/diagnóstico , Ataxia/inmunología , Gangliósidos/sangre , Inmunoglobulina M/sangre , Oftalmoplejía/diagnóstico , Oftalmoplejía/inmunología , Anciano de 80 o más Años , Anemia Hemolítica Autoinmune/sangre , Anemia Hemolítica Autoinmune/complicaciones , Anemia Hemolítica Autoinmune/tratamiento farmacológico , Anticuerpos Monoclonales de Origen Murino/uso terapéutico , Ataxia/sangre , Ataxia/complicaciones , Ataxia/tratamiento farmacológico , Resultado Fatal , Ataxia de la Marcha/etiología , Gangliósidos/metabolismo , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Factores Inmunológicos/uso terapéutico , Masculino , Ácido N-Acetilneuramínico/metabolismo , Oftalmoplejía/sangre , Oftalmoplejía/complicaciones , Oftalmoplejía/tratamiento farmacológico , Parestesia/etiología , Nervios Periféricos/metabolismo , Rituximab , Insuficiencia del Tratamiento
17.
Bioresour Technol ; 325: 124650, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33453659

RESUMEN

The design, modeling and simulation of an integrated biorefinery plant assumed to convert different forestry assortments such as sawdust or shavings (sawmill waste) into bioethanol from cellulose and hemicellulose as the main product, and lignin as the most valuable co-product, was carried out. The proposed lignocellulosic ethanol biorefinery plant was simulated with ProSimPlus. The model was based on experimental results and includes an Organosolv pretreatment, enzymatic hydrolysis, fermentation and distillation to obtain bioethanol. The investigated plant size processed 70,088 tons of biomass/year, with a production capacity of 11,650 tons ethanol/year. Ethanol productivity reached 351 L/ton of dry feedstock. Considering water consumption, approximately 4.8 L of water were needed to produce a liter of ethanol. Finally, the energy targeting through conventional pinch analysis lead to 16.4 MW and 16.07 MW of hot and cold utility energy demand for the entire process respectively with the cogeneration of electricity.


Asunto(s)
Lignina , Madera , Biomasa , Etanol , Fermentación , Hidrólisis , Lignina/metabolismo , Madera/metabolismo
18.
Food Chem ; 365: 130421, 2021 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-34216912

RESUMEN

Oil-in-water emulsions (20%/80%, w/w) were stabilised by two types of ß-caseins (1 g/L, w/w) extracted by rennet coagulation from camel and cow's milk, respectively. Both extracts were treated under different ranges of pH (3.0, 6.0 and 9.0) and temperature (25, 65 and 95 °C for 15 min) before emulsification. The emulsifying properties of the proteins were studied by surface and interfacial measurements. Results show that the emulsifying activity (EAI) of camel ß-casein is higher than the bovine protein. Yet, both proteins exhibited heat stability and nonsignificant effect of temperature was reported. Conversely, a significant effect of pH on camel ß-casein was recorded: at pH 6.0, the lowest values of EAI were measured and explained by the formation of micellar protein structure. Under such conditions, camel ß-casein is therefore a novel emulsifying protein with high potential to stabilise oil-in-water interfaces which provides numerous applications for the food chemistry field.


Asunto(s)
Camelus , Caseínas , Animales , Bovinos , Emulsiones , Femenino , Calor , Concentración de Iones de Hidrógeno , Leche
19.
Water Environ Res ; 93(3): 464-478, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32871040

RESUMEN

The use of waste and by-products locally available in large quantities and at low cost as adsorbents can be considered an appropriate approach for improving waste management and protecting the environment. Cotton textile waste was used to prepare adsorbents (MC) via pyrolysis followed by a chemical modification with H3 PO4 . MC samples were characterized by scanning electron microscopy, FTIR spectroscopy, and N2 adsorption-desorption isotherm. The results revealed that MC treated with 1 M H3 PO4 (MC1 ) showed an excellent adsorption performance. The single and binary adsorption of tetracycline (TC) and paracetamol (Pa) onto MC1 were studied. In a single system, TC was better adsorbed than Pa and maximum adsorption capacities qm are 87.7 mg/g and 62 mg/g, respectively. The adsorption follows the Langmuir and pseudo-second-order kinetic models. For a binary system, the experimental data indicate that Pa (44.04 mg/g) is better adsorbed than TC (24.13 mg/g). Adsorption equilibrium data of TC and Pa evaluated by the selectivity extended-Langmuir model in which selectivity factor was introduced provided good correlation results with the binary adsorption data. Cotton textile waste is potentially promising for the preparation of effective adsorbents for the removal of pharmaceutical residues in aqueous solutions. PRACTITIONER POINTS: Valorization of cotton textile waste into adsorbents. Adsorbents were prepared by pyrolysis at 600°C followed by chemical modification in the presence of H3 PO4 . Removal of tetracycline (TC) and paracetamol (Pa) alone or in mixtures by adsorption. Adsorbent showed high-capacity adsorption of the TC and Pa even in a mixture from solutions at low concentrations. The Langmuir and selectivity extended-Langmuir models describe the adsorption of TC and Pa alone and in mixtures, respectively.


Asunto(s)
Acetaminofén , Contaminantes Químicos del Agua , Adsorción , Concentración de Iones de Hidrógeno , Cinética , Oxidantes , Soluciones , Textiles
20.
Amyotroph Lateral Scler ; 11(3): 277-82, 2010 May 03.
Artículo en Inglés | MEDLINE | ID: mdl-19900148

RESUMEN

Detection of enterovirus (EV) in the spinal cord of patients with amyotrophic lateral sclerosis (ALS) has been reported on post mortem central nervous system tissues. In cases of persistent infection, it is very likely that the EV genome might be detected in the cerebrospinal fluid (CSF). A study was conducted in seven French amyotrophic lateral sclerosis (ALS) centres between 1997 and 2002. A total of 242 ALS patients and 354 age- and sex-matched controls (non-ALS patients) were enrolled. A sensitive RT-PCR method was performed on the CSF to assess the presence of EV RNA; 14.5% of ALS patients were positive compared to 7.6% of controls (chi(2) value, 5.31; p = 0.02). Although EV infection has a seasonal pattern, we observed no seasonality in positive detection of the EV genome among ALS patients. There was no significant relationship among ALS patients between the initial clinical form or survival and the result of the RT-PCR. These findings suggest a relationship between the presence of EV sequences in CSF and ALS. Our study is consistent with the hypothesis that persistent EV infection can be one of the multiple factors involved in the development of ALS.


Asunto(s)
Esclerosis Amiotrófica Lateral/líquido cefalorraquídeo , Esclerosis Amiotrófica Lateral/virología , Enterovirus/genética , Genoma Viral/fisiología , ARN Viral/líquido cefalorraquídeo , Anciano , Esclerosis Amiotrófica Lateral/mortalidad , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Persona de Mediana Edad , Índice de Severidad de la Enfermedad
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