Chromosome I linkage studies in Charcot-Marie-Tooth neuropathy type I

Charcot-Marie-Tooth neuropathy type 1 (CMT1) is an autosomal dominant disorder of peripheral nerve. The gene for CMT1 was originally localized to chromosome 1 by linkage to the Duffy blood group, but it has since been shown that not all CMT1 pedigrees show this linkage. We report here the results of linkage studies using five chromosome 1 markers - Duffy (Fy), antithrombin III (AT3), renin (REN), β-nerve growth factor (NGFB), and salivary amylase (AMY1) - in 16 CMT1 pedigrees. The total lod scores exclude close linkage of CMT1 to any of these markers. However, individual families show probable linkage of CMT1 to Duffy, AT3, and/or AMY1. No linkage was indicated with REN or NGFB. These results indicate that possible location of a CMT1 gene between the AMY1 and AT3 loci at p21 and q23, respectively, on chromosome 1 and support the theory that there is at least one other CMT1 gene.

DNA probes in Charcot-Marie-Tooth neuropathy

Results of Duffy (Fy) linkage confirm genetic heterogeneity in Charcot-Marie-Tooth disease type 1 (CMT1). Of 11 families informative for Fy, four showed probable linkage with CMT1, seven showed probable non-linkage and two showed definite non-linkage. These results suggest that Fy linked CMT1 may be less common than previously thought. These results combined with those of another DNA probe for the antithrombin III gene confirm that there are at least two gene loci for CMT1, termed 1A and 1B.

Corneal confocal microscopy detects neuropathy in patients with type 1 diabetes without retinopathy or microalbuminuria

Objective Corneal innervation is increasingly used as a surrogate marker of human diabetic peripheral neuropathy (DPN) however its temporal relationship with the other microvascular complications of diabetes is not fully established. In this cross-sectional, observational study we aimed to assess whether neuropathy occurred in patients with type 1 diabetes, without retinopathy or microalbuminuria. Materials and Methods All participants underwent detailed assessment of peripheral neuropathy [neuropathy disability score (NDS), vibration perception threshold (VPT), peroneal motor nerve conduction velocity (PMNCV), sural sensory nerve conduction velocity (SSNCV) and in vivo corneal confocal microscopy (IVCCM)], retinopathy (digital fundus photography) and albuminuria status [albumin: creatinine ratio (ACR)]. Results 53 patients with Type 1 diabetes with (n=37) and without retinopathy (n=16) were compared to control subjects (n=27). SSNCV, corneal nerve fibre (CNFD) and branch (CNBD) density and length (CNFL) were reduced significantly (p<0.001) in diabetic patients without retinopathy compared to control subjects. Furthermore, CNFD, CNBD and CNFL were also significantly (p<0.001) reduced in diabetic patients without microalbuminuria (n=39), compared to control subjects. Greater neuropathic severity was associated with established retinopathy and microalbuminuria. Conclusions IVCCM detects early small fibre damage in the absence of retinopathy or microalbuminuria in patients with Type 1 diabetes.

Quantification of motor vehicle emission factors from on road measurements

Assessment and prediction of the impact of vehicular traffic emissions on air quality and exposure levels requires knowledge of vehicle emission factors. The aim of this study was quantification of emission factors from an on road, over twelve months measurement program conducted at two sites in Brisbane: 1) freeway type (free flowing traffic at about 100 km/h, fleet dominated by small passenger cars - Tora St); and 2) urban busy road with stop/start traffic mode, fleet comprising a significant fraction of heavy duty vehicles - Ipswich Rd. A physical model linking concentrations measured at the road for specific meteorological conditions with motor vehicle emission factors was applied for data analyses. The focus of the study was on submicrometer particles; however the measurements also included supermicrometer particles, PM2.5, carbon monoxide, sulfur dioxide, oxides of nitrogen. The results of the study are summarised in this paper. In particular, the emission factors for submicrometer particles were 6.08 x 1013 and 5.15 x 1013 particles per vehicle-1 km-1 for Tora St and Ipswich Rd respectively and for supermicrometer particles for Tora St, 1.48 x 109 particles per vehicle-1 km-1. Emission factors of diesel vehicles at both sites were about an order of magnitude higher than emissions from gasoline powered vehicles. For submicrometer particles and gasoline vehicles the emission factors were 6.08 x 1013 and 4.34 x 1013 particles per vehicle-1 km-1 for Tora St and Ipswich Rd, respectively, and for diesel vehicles were 5.35 x 1014 and 2.03 x 1014 particles per vehicle-1 km-1 for Tora St and Ipswich Rd, respectively. For supermicrometer particles at Tora St the emission factors were 2.59 x 109 and 1.53 x 1012 particles per vehicle-1 km-1, for gasoline and diesel vehicles, respectively.

A database ATP simulated waveforms of shunt reactor switching cases with vacuum breakers on motor circuits

This paper presents a database ATP (Alternative Transient Program) simulated waveforms for shunt reactor switching cases with vacuum breakers in motor circuits following interruption of the starting current. The targeted objective is to provide multiple reignition simulated data for diagnostic and prognostic algorithms development, but also to help ATP users with practical study cases and component data compilation for shunt reactor switching. This method can be easily applied with different data for the different dielectric curves of circuit-breakers and networks. This paper presents design details, discusses some of the available cases and the advantages of such simulated data.

Increase in particle number emissions from motor vehicles due to interruption of steady traffic flow

We assess the increase in particle number emissions from motor vehicles driving at steady speed when forced to stop and accelerate from rest. Considering the example of a signalized pedestrian crossing on a two-way single-lane urban road, we use a complex line source method to calculate the total emissions produced by a specific number and mix of light petrol cars and diesel passenger buses and show that the total emissions during a red light is significantly higher than during the time when the light remains green. Replacing two cars with one bus increased the emissions by over an order of magnitude. Considering these large differences, we conclude that the importance attached to particle number emissions in traffic management policies be reassessed in the future.