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Articles by G Nicholson
Total Records ( 2 ) for G Nicholson
  K. G Claeys , S Zuchner , M Kennerson , J Berciano , A Garcia , K Verhoeven , E Storey , J. R Merory , H. M. E Bienfait , M Lammens , E Nelis , J Baets , E De Vriendt , Z. N Berneman , I De Veuster , J. M Vance , G Nicholson , V Timmerman and P. De Jonghe
 

Dominant intermediate Charcot-Marie-Tooth neuropathy type B is caused by mutations in dynamin 2. We studied the clinical, haematological, electrophysiological and sural nerve biopsy findings in 34 patients belonging to six unrelated dominant intermediate Charcot-Marie-Tooth neuropathy type B families in whom a dynamin 2 mutation had been identified: Gly358Arg (Spain); Asp551_Glu553del; Lys550fs (North America); Lys558del (Belgium); Lys558Glu (Australia, the Netherlands) and Thr855_Ile856del (Belgium). The Gly358Arg and Thr855_Ile856del mutations were novel, and in contrast to the other Charcot-Marie-Tooth-related mutations in dynamin 2, which are all located in the pleckstrin homology domain, they were situated in the middle domain and proline-rich domain of dynamin 2, respectively. We report the first disease-causing mutation in the proline-rich domain of dynamin 2. Patients with a dynamin 2 mutation presented with a classical Charcot-Marie-Tooth phenotype, which was mild to moderately severe since only 3% of the patients were wheelchair-bound. The mean age at onset was 16 years with a large variability ranging from 2 to 50 years. Interestingly, in the Australian and Belgian families, which carry two different mutations affecting the same amino acid (Lys558), Charcot-Marie-Tooth cosegregated with neutropaenia. In addition, early onset cataracts were observed in one of the Charcot-Marie-Tooth families. Our electrophysiological data indicate intermediate or axonal motor median nerve conduction velocities (NCV) ranging from 26 m/s to normal values in four families, and less pronounced reduction of motor median NCV (41–46 m/s) with normal amplitudes in two families. Sural nerve biopsy in a Dutch patient with Lys558Glu mutation showed diffuse loss of large myelinated fibres, presence of many clusters of regenerating myelinated axons and fibres with focal myelin thickenings—findings very similar to those previously reported in the Australian family. We conclude that dynamin 2 mutations should be screened in the autosomal dominant Charcot-Marie-Tooth neuropathy families with intermediate or axonal NCV, and in patients with a classical mild to moderately severe Charcot-Marie-Tooth phenotype, especially when Charcot-Marie-Tooth is associated with neutropaenia or cataracts.

  M Braithwaite , G Nicholson , R Thornton , D Jones , R Simpson , D McLoughin and D. Jenkins
 

Background The Armed Forces operate in a particularly arduous physical and psychological environment. The occupational health (OH) of all personnel is of paramount importance to sustain the service's fighting ability.

Aims Firstly, to bring readers up to date with the current organization and delivery of OH to uniformed personnel in the Armed Forces. Secondly, to review the research that has led to an improvement in OH services and the ways in which the Armed Forces are responding to the various challenges.

Methods A description of the type and delivery of OH to the Armed Forces is followed by a review of the relevant contemporaneous literature from both open publications and research dissertations.

Results Although there are some similarities with civilian OH, the principal requirement to prepare and sustain service personnel for operations on land, sea and air adds considerable complexity to the task. Research undertaken by Armed Forces OH professionals has added to the evidence base and enabled attrition in all aspects of the Armed Forces to be reduced.

Conclusions To meet the challenges of the 21st century, Armed Forces OH practitioners must continue to provide the best evidence-based advice to enhance force preparation and sustainment. All consultations in the Armed Forces involve an OH consideration from the simplest consultations through to the input from specialist OH practitioners. While the assessment of fitness to work in home bases and on deployed operations remains the primary output of OH, the provision of support to command policy, procurement and research are also key to the ability to operate worldwide.

 
 
 
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