Publications by authors named "Madinier G"

Article Synopsis
  • Recent findings indicate that biallelic WARS2 pathogenic variants lead to a partial aminoacylation defect, linked to late-onset conditions like dopa-responsive dystonia parkinsonism and myoclonus ataxia.
  • * The case study describes a 39-year-old male with a history of childhood-onset progressive dystonia, psychiatric symptoms, and ataxia, where genome sequencing revealed specific variants that confirmed a WARS2-related disease diagnosis.
  • * The identified missense variant (p.(Trp13Gly)) is associated with milder symptoms compared to severe loss-of-function variants, reinforcing the relationship between genotype and phenotype in these disorders.
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Subacute combined degeneration (SCD) of the spinal cord is known to present histopathologically degenerative lesions in the spinal cord, but few studies on the neuroradiological findings have so far been reported. We present the interest of initial and follow-up MR findings in three cases of SCD. In the three cases, a causal event precipitated the onset of neurological symptoms: general anesthesia for the first and the third one and folic acid treatment for the second one.

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Data from 959 consecutive patients registered with the Dijon Stroke Registry were used to compare the characteristics of the patients who were admitted to the public hospital within the first days after their first stroke with those admitted to the private hospitals or who remained at home. Seven hundred and one patients (73%) were admitted to the public hospital, 185 (19%) were admitted to private hospitals and 73 (8%) remained in the community. The results show that the clinical patterns of the stroke are quite different among the three health-care systems.

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Purpose: To determine potential mechanisms of epilepsy in patients with multiple sclerosis (MS).

Methods: Among 402 patients with clinically and radiologically defined MS, including de novo cases, presenting to the Neurology Service, University Hospital of Dijon, we identified 17 with epileptic seizures (4.25%).

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The aim of this study was to determine the incidence of first-ever TIA and the distribution of risk factors in those patients with TIA in Dijon. We performed a prospective population-based study in Dijon City with 135,000 inhabitants, from 1990 to 1994, using several case-collection sources. Over a 5-year period, we recorded 258 cases of first-ever TIA, giving a crude annual incidence rate of 38.

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Objectives: The aim of this study was to re-evaluate the clinical features of stroke in children, their outcome and the place of the different mechanisms, in the light of CT-scan and magnetic resonance imaging.

Methods: A 10-year review of the Dijon Childhood Neurology Clinic experience (1985-1995) identified 54 patients with arterial stroke. Diagnosis was established by CT-scan and angiography and by magnetic resonance imaging from 1987.

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Objectives: To analyse the clinical features induced by lenticular infarction found in 20 patients, and to analyse the radiological and clinical correlations.

Methods: Eight women and 12 men, mean age 73 years, were included in this study, which was carried out from 1 January 1994 to 30 November 1996. They were characterised by the onset of a lenticular infarction, shown by CT and MRI.

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Agenesis of corpus callosum is an uncommon brain malformation that is usually detected in childhood. In adult, focal epileptic seizure is the most frequent manifestation. Otherwise, asymptomatic patients can be detected by cerebral imagery with specific criteria.

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Objective: To compare the occurrence rate of nosocomial maxillary sinusitis and pneumonia in patients who have undergone nasotracheal vs. orotracheal intubation.

Design: Randomized, clinical trial.

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Twenty mechanically ventilated patients with nosocomial sinusitis were treated with amikacin 15 mg/kg administered either once a day (group 1 patients) or twice a day (group 2 patients). Amikacin was assayed in serum and in the liquid drained from the sinuses 8 times over a 24 hours' period (group 1) or 7 times over a 12 hours' period (group 2). The amikacin concentration peak was 10.

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