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Articles by M Obadia
Total Records ( 2 ) for M Obadia
  P Labauge , L Horzinski , X Ayrignac , P Blanc , S Vukusic , D Rodriguez , F Mauguiere , L Peter , C Goizet , F Bouhour , C Denier , C Confavreux , M Obadia , F Blanc , J. d Seze , A Fogli and O. Boespflug Tanguy
 

Mutations in one of the five eukaryotic initiation factor 2B genes (EIF2B1-5) were first described in childhood ataxia with cerebral hypomyelination—vanishing white matter syndrome. The syndrome is characterized by (i) cerebellar and pyramidal signs in children aged 2–5 years; (ii) extensive cavitating leucoencephalopathy; and (iii) episodes of rapid deterioration following stress. Since then a broad clinical spectrum from congenital to adult-onset forms has been reported, leading to the concept of eIF2B-related disorders. Our aim was to describe clinical and brain magnetic resonance imaging characteristics, genetic findings and natural history of patients with adult-onset eIF2B-related disorders (after age 16). The inclusion criteria were based on the presence of eIF2B mutations and a disease onset after the age of 16 years. One patient with an asymptomatic diagnosis (age 16 years) was also included. Clinical and magnetic resonance findings were retrospectively recorded in all patients. All patients were examined to assess clinical evolution, using functional, pyramidal, cerebellar and cognitive scales. This multi-centric study included 16 patients from 14 families. A sex ratio imbalance was noted (male/female = 3/13). The mean age of onset was 31.1 years (range 16–62). Initial symptoms were neurologic (n = 11), psychiatric (n = 2) and ovarian failure (n = 2). Onset of the symptoms was linked to a precipitating factor in 13% of cases that included minor head trauma and delivery. During follow-up (mean: 11.2 years, range 2–22 years) 12.5% of the patients died. Of the 14 survivors, 62% showed a decline in their cognitive functions, and 79% were severely handicapped or bedridden. One case remained asymptomatic. Stress worsened clinical symptoms in 38% of the patients. Magnetic resonance imaging findings consist of constant cerebral atrophy, extensive cystic leucoencephalopathy (81%), corpus callosum (69%) and cerebellar (38%) T2-weighted hyperintensities. All families except one showed mutations in the EIF2B5 gene. The recurrent p.Arg113His-eIF2B mutation was found in 79% of the 14 eIF2B-mutated families, mainly at a homozygous state. The family with a mutation in EIF2B2 had the relatively prevalent p.Glu213Gly mutation. eIF2B-related disorder is probably underestimated as an adult-onset inherited leucoencephalopathy. In this late-onset form, presentation ranges from neurologic symptoms to psychiatric manifestations or primary ovarian failure. Cerebral atrophy is constant, whereas the typical vanishing of the white matter can be absent. Functional and/or cognitive prognosis remains severe. Molecular diagnosis is facilitated for these forms by the screening of the two recurrent p.Arg113His-eIF2B and p.Glu213Gly-eIF2Bβ mutations, positive in 86% of cases.

  C. B Lynde , M Obadia , G. M Liss , M Ribeiro , D. L Holness and S. M. Tarlo
 

Background Occupational dermatitis is very common and has a large economic impact. Cleaners are at an increased risk for both work-related cutaneous and respiratory symptoms.

Aims To compare the prevalence of occupational cutaneous symptoms among professional indoor cleaners to other building workers (OBW) and to determine associations with exposures and with respiratory symptoms among cleaners.

Methods A questionnaire completed by indoor professional cleaners and OBW to compare rash and respiratory symptoms between these groups examined workplace factors such as training, protective equipment and work tasks.

Results In total, 549 of the 1396 professional cleaners (39%) and 593 of the 1271 OBW (47%) completed questionnaires. The prevalence of rash was significantly higher in the cleaners compared to the OBW. For male cleaners, 21% (86/413) had a rash in the past 12 months compared to only 11% (13/115) of OBW (P < 0.05). The rashes experienced by the cleaners were more likely to be on their hands and worse at work. Cleaners washed their hands significantly more often than OBW. Cleaners with a rash were less likely to have received workplace training regarding their skin and were more likely to find the safety training hard to understand. Cleaners with a rash within the past year were significantly more likely to have work-related asthma symptoms than cleaners without a rash (P < 0.001).

Conclusions This study demonstrates a strong link between work-related symptoms of asthma and dermatitis among cleaners. Effective preventive measures, such as the use of protective skin and respiratory equipment, should be emphasized.

 
 
 
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