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المؤلفون: Jean-Michel Vallat, Claire Demiot, Laurent Magy, Arnaud Lacour, Laurence Richard, Mathilde Duchesne, Tania Stojkovic, Daniel Cohen, Viviane Bertrand, Serguei Nabirotchkin, Pierre-Marie Gonnaud, Klaus-Armin Nave, Yann Péréon, Shahram Attarian, Aurore Danigo
المصدر: Journal of Neuropathology & Experimental Neurology. 77:274-281
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Langerhans cell, Visual Analog Scale, Biopsy, Neural Conduction, Nerve fiber, Disease, Severity of Illness Index, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, Myelin, Nerve Fibers, 0302 clinical medicine, Charcot-Marie-Tooth Disease, medicine, Humans, Myelin Sheath, Skin, medicine.diagnostic_test, business.industry, General Medicine, Middle Aged, Pathophysiology, 030104 developmental biology, medicine.anatomical_structure, Neurology, Peripheral nervous system, Skin biopsy, Neuropathic pain, Female, Neurology (clinical), business, Myelin Proteins, 030217 neurology & neurosurgery
الوصف: Charcot-Marie-Tooth disease type 1A (CMT1A), the most common form of Charcot-Marie-Tooth diseases, is a demyelinating neuropathy caused by a deletion encompassing the gene coding for PMP22, a myelin protein of the peripheral nervous system. Although myelinated fibers are mostly involved in CMT1A, some patients experience neuropathic pain. We thus investigated whether unmyelinated fibers are lost in CMT1A. Skin biopsies were taken from the distal portion of the leg of 80 patients with CMT1A as part of the PXT30003-01 study and processed for quantification of intraepidermal nerve fiber density (IENFD). Mean IENFD was significantly lower in CMT1A patients than in healthy controls. Although the data were highly dispersed, IENFD tended to decrease with age and was higher overall in female patients and controls than male patients and controls. This study shows that small nerve fibers are affected in CMT1A and that this correlates with pin sensitivity. The density of epidermal Langerhans cells (LCs) was also significantly reduced in CMT1A patients, suggesting the involvement of LCs in neuropathic pain processes. These findings raise several questions concerning the interactions of Schwann cells and LCs with unmyelinated fibers in CMT1A. Moreover, they suggest that factors other than PMP22 gene dosage are involved in small fiber pathology in CMT1A.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a34bce535f19bbdda90931c4b2287d91Test
https://doi.org/10.1093/jnen/nly001Test -
2
المؤلفون: Attarian, Shahram, Jean-Michel Vallat, Magy, Laurent, Funalot, Benoît, Pierre-Marie Gonnaud, Lacour, Arnaud, Péréon, Yann, Dubourg, Odile, Pouget, Jean, Micallef, Joëlle, Franques, Jérôme, Marie-Noëlle Lefebvre, Ghorab, Karima, Al-Moussawi, Mahmoud, Tiffreau, Vincent, Preudhomme, Marguerite, Magot, Armelle, Leclair-Visonneau, Laurène, Stojkovic, Tanya, Bossi, Laura, Lehert, Philippe, Gilbert, Walter, Bertrand, Viviane, Mandel, Jonas, Milet, Aude, Hajj, Rodolphe, Boudiaf, Lamia, Scart-Grès, Catherine, Nabirotchkin, Serguei, Guedj, Mickael, Chumakov, Ilya, Cohen, Daniel
الوصف: Response to PXT3003 on efficacy outcomes (Full Analysis Set, n = 80). Data are mean (s.d.) baseline and final values, and % (s.d.) of improvement for each treatment group and PLI. Differences between treatment groups were assessed by Analysis of Covariance (Ancova) on log-transformed values by adjusting for baseline values. Estimates were provided as mean percentage change over baseline (90 % CI). Dose-effect was tested through Spearman’s rank correlation. P-values are one-tailed. CMTNS = Charcot-Marie-Tooth Neuropathy Score; ONLS = Overall Neuropathy Limitations Scale; 6MWT = 6-Minute Walk Test; 9HPT = 9-Hole Peg Test; CMAP = Amplitudes of Compound Muscle Action Potentials; MCV = Motor Conduction Velocity; DML = Distal Motor Latency; SNAP = Amplitudes of Sensory Nerve Action Potentials; SCV = Sensitive Conduction Velocity; VAS = Visual Analog Scale; CGI = Clinical Global Impression. (DOC 168 kb)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1be08a4d768c07810f3f33f21ce0d772Test
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3دورية أكاديمية
المؤلفون: Emmanuelle Angelie, Alain Bonmartin, Abdel Boudraa, Pierre-marie Gonnaud, Jean-jacques Mallet
المساهمون: The Pennsylvania State University CiteSeerX Archives
الوصف: BACKGROUND AND PURPOSE: Aging is recognized to originate from a diversity of mech-anisms that blur the limits between normal and pathologic processes. The purpose of this study was to determine the early effect of normal aging on the regional distribution of brain metab-olite concentrations, including N-acetylaspartate (NAA), a major neuronal marker, choline (Cho), and creatine (Cr). METHODS: Thirty-two healthy participants, ages 21 to 61 years, were examined by proton MR spectroscopic (1H MRS) imaging. 1H MRS imaging acquisitions were performed in two brain locations: the centrum semiovale and the temporal lobe. Thirty voxels were selected in four cerebral regions, cortical, semioval, temporal, and hippocampal, and 1H MR spectra were processed to determine the metabolite ratios. RESULTS: With advancing age of the participants, the ratios of %NAA, NAA:Cho, and NAA:Cr were significantly decreased, whereas the ratios of %Cho and %Cr were significantly increased in the cortical, semioval, and temporal regions. On the basis of the significant met-abolic difference determined by cluster analysis, two groups of 16 participants with ages rang-ing from 21 to 39 years (younger group) and 40 to 61 years (older group) were compared.
وصف الملف: application/pdf
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المؤلفون: Philippe Latour, Jean-Michel Vallat, Stéphane Mathis, Franck Sturtz, Elisabeth Ollagnon-Roman, Laurence Richard, Maxime Jouaud, Laurent Magy, Pierre-Marie Gonnaud
المساهمون: Maintenance Myélinique et Neuropathies Périphériques (MMNP), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Centre de référence national neuropathies périphériques rares [CHU Limoges], CHU Limoges, Service de Neurologie [CHU Limoges], Service de Biochimie et Génétique Moléculaire [CHU Limoges], Service de neurologie [Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers)
المصدر: Neuromuscular Disorders
Neuromuscular Disorders, Elsevier, 2016, 26 (4-5), pp.316-321. ⟨10.1016/j.nmd.2016.01.004⟩مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Biopsy, Neural Conduction, Sural nerve, Biology, Nerve biopsy, Young Adult, 03 medical and health sciences, Exon, 0302 clinical medicine, Sural Nerve, Charcot-Marie-Tooth Disease, Internal medicine, Peripheral myelin protein 22, medicine, Humans, Point Mutation, Congenital hypomyelinating neuropathy, RNA, Messenger, Allele, Genetics (clinical), Sequence Deletion, Genetics, medicine.diagnostic_test, CMT, Myelin protein zero, Point mutation, 030104 developmental biology, Endocrinology, PMP22, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Neurology (clinical), Myelin Proteins, 030217 neurology & neurosurgery
الوصف: International audience; Congenital hypomyelinating neuropathy appears early in life, resulting in a delay of motor and sensory development. Mutations involve genes such as myelin protein zero (MPZ), peripheral myelin protein 22 (PMP22), and early growth response 2 (EGR2). We present a patient with two compound mutations in PMP22: a point mutation causing a premature STOP codon in exon 3 was inherited from the mother on the first allele, and the "typical" PMP22 deletion in the 17p11.2-p12 region was inherited from the father on the other allele. A sural biopsy was performed at age four. The patient has been followed from 28 months to 21 years of age; he presented significant sensory disturbances, with a slight motor deficit. PMP22 mRNA quantitation showed a severe decrease of PMP22 protein. No myelin sheaths were observed in the biopsy; mesaxons failed to form. The absence of PMP22 provides new insights into the role of this protein.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3b3d2fe18a089c97d79b82c9ae24461Test
https://doi.org/10.1016/j.nmd.2016.01.004Test -
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المؤلفون: Jean Pouget, Elisabeth Jouve, Joëlle Micallef, Olivier Blin, Tanya Stojkovic, Shahram Attarian, Pierre-Marie Gonnaud, Odile Dubourg, Cécile Colomban, Marie-Noëlle Lefebvre
المصدر: Journal of the Neurological Sciences. 336:155-160
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Disease, law.invention, Cohort Studies, Quality of life, Randomized controlled trial, Charcot-Marie-Tooth Disease, law, Surveys and Questionnaires, Internal medicine, medicine, Humans, Carpal tunnel syndrome, Sex Characteristics, business.industry, Multiple sclerosis, Middle Aged, medicine.disease, Large cohort, medicine.anatomical_structure, Neurology, Cohort, Quality of Life, Physical therapy, Upper limb, Female, Neurology (clinical), business
الوصف: Introduction Heterogeneous clinical presentation and gender differences were reported in Charcot–Marie–Tooth disease type 1A (CMT1A). Methods This report examined demographic and clinical data collected during a randomised controlled trial, to describe the clinical spectrum of a large and well-defined cohort of CMT1A patients. Results Among the 189 symptomatic patients screened, three patients (1.6%) reported first symptoms in the upper limbs, which may be misleading when establishing the clinical diagnosis. The quality of life (QoL) of patients was significantly deteriorated compared to the standard population, and slightly better compared to multiple sclerosis patients. According to the literature, patients reported several disorders which may be associated with CMT1A, including auditory dysfunction (7.9%), Carpal Tunnel Syndrome (CTS) (7.9%) or sleep apnoea (4.2%). Compared to available data, we reported more patients with CTS and fewer patients with sleep apnoea. Women were more affected by CTS than men (11% and 2.8%, respectively). Women also reported an earlier onset of symptoms than men (8.6 ± 9.5 years and 13.1 ± 14 years, respectively), higher deterioration of their QoL and higher disability of their upper limb, assessed by Overall Neuropathy Limitation Scale (p = 0.023). Conclusions This information will be useful for better understanding of this disease and for designing future clinical studies.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28085f429e5897a845f992e9e032dd41Test
https://doi.org/10.1016/j.jns.2013.10.029Test -
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المؤلفون: Adrien Didelot, Alain Bergeret, Pierre-Marie Gonnaud, Camille Combarnous, Barbara Charbotel
المساهمون: Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Unité Mixte de Recherche Epidémiologique et de Surveillance Transport Travail Environnement (UMRESTTE UMR T9405), Université de Lyon-Université de Lyon-Institut Français des Sciences et Technologies des Transports, de l'Aménagement et des Réseaux (IFSTTAR), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL)
المصدر: Archives des Maladies Professionnelles et de L'Environnement
Archives des Maladies Professionnelles et de L'Environnement, Elsevier Masson, 2016, 77 (1), pp.33-43. ⟨10.1016/j.admp.2015.10.007⟩مصطلحات موضوعية: EPILEPSIE, MALADIE, Public Health, Environmental and Occupational Health, MILIEU PROFESSIONNEL, PROFESSION, 03 medical and health sciences, 0302 clinical medicine, INTEGRATION SOCIALE, CONDITIONS DE TRAVAIL, EMPLOYMENT, 030212 general & internal medicine, WORKPLACE, SOCIOLOGIE, 030217 neurology & neurosurgery, EPILEPSY, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, EMPLOI
الوصف: In a competitive working environment, support to the employment of persons suffering from epilepsy needs to be increasingly effective. The present study therefore analyzed the literature data to identify factors influencing occupational integration and assess their impact, so as to propose adapted strategies of multidisciplinary management. A PubMed and ScienceDirect search was performed using the search terms 'epilepsy', 'employment', 'employer', 'workplace' and 'work status', focusing on recent data, published between 2000 and 2014, concerning adults living in North America, Europe or Australia. The collected factors are categorized according to 3 themes. The first concerns the experience of persons suffering from epilepsy: their often impaired self-esteem, their self perception in the eyes of others, and their possible beliefs and fears concerning work. These feelings echo the perception of epilepsy in the patient's social environment, which is the topic of the second theme: persistent prejudices in the general public and stigmatization at the workplace. The last theme concerns seizures and their treatment, and particularly how their unpredictability makes them both striking and disturbing, as well as the side effects of medication. Interactions between factors influencing occupational integration may be seen as an inextricable circle involving the three themes concerning the patient, his/her social environment and the disease, each of which calls for specific management. Identifying the factors underlying the difficulties experienced by persons suffering from epilepsy should enable optimal synergy between the skills of the various partners, to give rise to a virtuous circle facilitating occupational integration.; Dans un monde du travail compétitif, l'accompagnement dans l'emploi des personnes souffrant d'épilepsie (PSE) doit être de plus en plus performant. Dans ce contexte, l'objectif de ce travail était d'identifier à partir des données de la littérature les facteurs d'insertion professionnelle et d'analyser leur retentissement afin de proposer des pistes de stratégie de prise en charge pluriprofessionnelle adaptée. Une recherche sur PubMed et ScienceDirect à partir des mots clés epilepsy, employment, employer, workplace ou work status a été réalisée en ciblant les données récentes publiées entre 2000 et 2014 et s'intéressant à des adultes vivant en Amérique du Nord, en Europe ou en Australie. Les facteurs recueillis ont été classés en trois thématiques. La première s'intéresse au ressenti des PSE, leur estime d'elles-mêmes, leur perception du regard des autres et leurs éventuelles croyances ou craintes vis-à-vis du travail. Ces sentiments font écho à la perception de l'épilepsie par l'entourage du malade, que nous développerons dans notre deuxième partie, réÎlant les préjugés persistants du grand public et la stigmatisation dans le monde du travail. Les crises et leur traitement sont abordés dans une dernière partie, notamment leur caractère imprévisible qui impressionne et dérange, ainsi que les contraintes et effets secondaires des médicaments. Les multiples facteurs d'insertion professionnelle peuvent être représentés comme un cercle inextricable impliquant les trois thématiques touchant le malade, son entourage et sa maladie ; chacune appelle à un type de prise en charge spécifique. L'identification des facteurs à l'origine des difficultés de la PSE devrait permettre une articulation optimale des compétences des différents partenaires afin de faciliter son intégration professionnelle.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b825841a2c954db5e4f120bb0d63948Test
https://hal.archives-ouvertes.fr/hal-01524898Test -
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المؤلفون: Christophe Rousselle, Gaetan Lesca, Pierre-Marie Gonnaud, Audrey Labalme, Nicolas Chatron, Perrine Devic, Damien Sanlaville
المصدر: European Journal of Paediatric Neurology. 21:e175-e176
مصطلحات موضوعية: S syndrome, Biotin-thiamine-responsive basal ganglia disease, Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine, Biology, Molecular biology, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4bbdb570a6255d461d0297fa9da4a512Test
https://doi.org/10.1016/j.ejpn.2017.04.993Test -
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المؤلفون: Jean-Yves Hogrel, Daniel Tanesse, Laurence Attolini, Eric Azabou, Tanya Stojkovic, Rafaëlle Bernard, Odile Dubourg, Marie-Noëlle Lefebvre, Michel Fontes, Mahmoud Al-Moussawi, Shahram Attarian, Olivier Blin, Elisabeth Jouve, Pierre-Marie Gonnaud, Jean Pouget, Francois Vacherot, Jean-Francois Remec, Sadek Yaici, Joëlle Micallef, Severine Pitel, Laurent Jomir
المصدر: The Lancet Neurology. 8:1103-1110
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Movement, Sensation, Placebo-controlled study, Physical examination, Ascorbic Acid, Walking, Placebo, Antioxidants, law.invention, Random Allocation, Double-Blind Method, Randomized controlled trial, Charcot-Marie-Tooth Disease, law, Internal medicine, medicine, Humans, Muscle Strength, Adverse effect, Intention-to-treat analysis, Hand Strength, medicine.diagnostic_test, business.industry, Middle Aged, Ascorbic acid, Muscle atrophy, Surgery, Treatment Outcome, Socioeconomic Factors, Female, Neurology (clinical), medicine.symptom, business
الوصف: Summary Background Charcot–Marie–Tooth disease type 1A (CMT1A) is a hereditary peripheral neuropathy that affects roughly one in 5000 births. No specific therapy currently exists for this degenerative disorder, which is characterised by distal progressive muscle atrophy and sensory loss, although ascorbic acid has been shown to reduce demyelination and improve muscle function in a transgenic mouse model of CMT1A. We tested the safety and efficacy of ascorbic acid in adults with CMT1A. Methods This 12-month, randomised, double-blind, placebo-controlled study was undertaken between September, 2005, and October, 2008. Patients diagnosed with CMT1A according to clinical examination and confirmation by genotyping were randomly assigned in a 1:1:1 ratio to receive 1 g ascorbic acid per day, 3 g ascorbic acid per day, or placebo. Treatment allocation was based on a computer-generated list of random numbers in blocks of 12, with stratification according to study site and sex; all investigators and participants were unaware of treatment allocation. The primary outcome was the Charcot–Marie–Tooth disease neuropathy score (CMTNS) at 12 months. Analysis was by intention to treat. This study is registered with the Orphanet Database, number ORPHA60779. Findings The median change in CMTNS from baseline to 12 months was 0·5 points (95% CI −0·3 to 1·4) for the placebo group (n=62), 0·7 points (0·0 to 1·4) for the 1 g ascorbic acid group (n=56), and −0·4 points (−1·2 to 0·4) for the 3 g ascorbic acid group (n=61). We did not find any significant difference in these changes between the groups (p=0·14). The occurrence of adverse events did not differ between the groups (p=0·74). Interpretation Ascorbic acid at both doses was safe and well tolerated in adults with CMT1A over 12 months. However, there were no significant differences between the groups and the efficacy of ascorbic acid was not shown. Funding French Ministry of Health (National PHRC 2004) and Association Francaise Contre les Myopathies.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::192f9b483a6b5c3ee67c715c170b6b39Test
https://doi.org/10.1016/s1474-4422Test(09)70260-1 -
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المؤلفون: Victor Chan, Claude Stoll, Philippe Latour, François Ziegler, Elisabeth Ollagnon, Serge Perelman, Tanya Stojkovic, Christophe Vial, Antoon Vandenberghe, Pierre-Marie Gonnaud, Irène Maire
المصدر: Journal of the Peripheral Nervous System. 11:148-155
مصطلحات موضوعية: Adult, Male, Adolescent, DNA Mutational Analysis, Disease, Biology, medicine.disease_cause, Charcot-Marie-Tooth Disease, Sequence Analysis, Protein, Lysosome, medicine, Humans, Missense mutation, Coding region, Child, Gene, Late endosome, Aged, Genes, Dominant, Retrospective Studies, Family Health, Genetics, Mutation, General Neuroscience, Infant, Nuclear Proteins, Exons, Middle Aged, Pedigree, Phenotype, medicine.anatomical_structure, Child, Preschool, Mutation testing, Female, Neurology (clinical), Transcription Factors
الوصف: Charcot-Marie-Tooth disease type 1C (CMT1C) is caused by mutations in the small integral membrane protein of the lysosome/late endosome (SIMPLE). We analyzed the coding sequence of SIMPLE in DNA of 53 unrelated cases of dominant demyelinating CMT disease with no mutations in PMP22, GJB1, MPZ, EGR2, and NEFL genes. Four different missense mutations were observed in six families. The mutation Gly112Ser was found in two families confirming its frequent occurrence in SIMPLE mutations. Three novel mutations were also identified: Ala111Gly (two families), Pro135Ser, and Pro135Thr. Familial studies revealed that all carriers of mutations (n = 38), aged from 1 to 78 years, were symptomatic, notably children under 10 years (n = 8). Motor conduction velocities in the median nerve ranked from 16.4 to 32.8 m/s (n = 20). In our series of 968 unrelated dominant demyelinating CMT cases (1992-2005), the percentage of SIMPLE mutations was 0.6 (6/968).
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3d34af2f9a99e1e289ed83775a6598aTest
https://doi.org/10.1111/j.1085-9489.2006.00080.xTest -
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المؤلفون: Françoise Borson-Chazot, Pierre-Marie Gonnaud, Jocelyne Brun, Bruno Claustrat, Laurence Kocher
المصدر: Chronobiology International. 23:889-901
مصطلحات موضوعية: Adult, Male, Multiple Sleep Latency Test, endocrine system, medicine.medical_specialty, Time Factors, Physiology, medicine.medical_treatment, Sleep, REM, Pinealectomy, Polysomnography, Pineal Gland, Body Temperature, Melatonin, Physiology (medical), Internal medicine, medicine, Humans, Circadian rhythm, Sleep Stages, medicine.diagnostic_test, Modafinil, Temperature, Magnetic Resonance Imaging, Prolactin, Circadian Rhythm, Endocrinology, Psychology, hormones, hormone substitutes, and hormone antagonists, medicine.drug
الوصف: The objectives of the investigation were to assess hypersomnia, which progressively appeared in a young patient after a pinealectomy, chemotherapy, and radiotherapy for a typical germinoma, as well as the potential benefit of melatonin administration in the absence of its endogenous secretion. 24 h ambulatory polysomnography and the Multiple Sleep Latency Test (MSLT) were performed; in addition, daily plasma melatonin, cortisol, growth hormone, prolactin, and rectal temperature profiles were determined before and during melatonin treatment (one 2 mg capsule given nightly at 21:00 h for 4 weeks). MSLT showed abnormal sleep latency and two REM sleep onsets. Nighttime total sleep duration was lengthened, mainly as a consequence of an increased REM sleep duration. These parameters were slightly modified by melatonin replacement. Plasma melatonin levels, which were constantly nil in the basal condition, were increased to supraphysiological values with melatonin treatment. The plasma cortisol profile showed nycthemeral variation within the normal range, and the growth hormone profile showed supplementary diurnal peaks. Melatonin treatment did not modify the secretion of either hormone. The plasma prolactin profile did not display a physiological nocturnal increase in the basal condition; however, it did during melatonin treatment, with the rise coinciding with the nocturnal peak of melatonin concentration. A 24 h temperature rhythm of normal amplitude was persistent, though the mean level was decreased and the rhythm was dampened during melatonin treatment. The role of radiotherapy on the studied parameters cannot be excluded; the findings of this case study suggest that the observed hypersomnia is not the result of melatonin deficiency alone. Overall, melatonin treatment was well tolerated, but the benefit on the sleep abnormality, especially on daytime REM sleep, was minor, requiring the re-introduction of modafinil treatment.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98c383dad03276a59e427b309abe761aTest
https://doi.org/10.1080/07420520600827095Test