No description available.

No description available.

Between May 1992 and June 2001, 309 epidermolysis bullosa (EB) sufferers were identified in Scotland (EB simplex [EBS] 175, dystrophic EB [DEB] 130, junctional EB [JEB] 4). The point prevalences of EB per million in June 2001 were: EBS (all variants) 33.2, the Dowling-Meara subtype of EBS (EBS-DM) 1.2, JEB 0.3, DEB (all subtypes) 24.6, dominant DEB ( DDEB) 17.4, DEB of uncertain inheritance (DEB-unc) 4.6, the Hallopeau-Siemens subtype of recessively inherited DEB (RDEB-HS) 1,4, localised RDEB (RDEB-loc) 1.0, and the inverse pattern of RDEB (RDEB-inv) 0.2. Incidences per million live births were EBS (all subtypes) 34.4, JEB 3.2, and DEB (all subtypes) 26.4. Although the prevalence figures for EBS and DEB are the highest of any yet reported, extrapolation of accurate data for the Lothians suggests that the prevalences of EBS and DEB in Scotland are underestimates. Detailed clinical information on 130 EBS patients revealed considerable overlap between EBS-WC and EBS-Kb. As both phenotypes were frequently seen within the same pedigree and in patients bearing identical mutations, EBS-WC is best regarded as a mild variant of EBS-Kb rather than as a separate disorder. Improvement with age was common in EBS but not invariable. Nail involvement and aplasia cutis congentia were seen in all subtypes of EBS. Seasonal variation was confirmed as being common in EBS-Kb/EBS-WC and absent in EBS-DM. In contrast to previously held views, substantial minorities of those with EBS-Kb/EBS-WC experienced oral blisters (17%) and blisters at sites in addition to the palms and soles (43%). Oral blisters were previously thought to occur only in EBS-DM. Laryngeal involvement, usually associated with JEB, also occurred in EBS-DM.

No description available.

No description available.

No description available.

No description available.

No description available.

This is the first attempt at evaluating the systemic endothelial damage/capillary leak following human thermal injury. This was quantified by Microalbuminuria, an immunoassay method for measuring traces of albumin in the urine, expressed as the Albumin Creatinine Ratio (ACR). ACR showed a significant correlation with the proportion of full-thickness burn, inhalation injury, alcohol intoxication and accelerant involvement. The variability in endothelial response to thermal injury between patients is not addressed by standard resuscitation formulae. The initial post-burn ACR was a sensitive predictor of the difference between resuscitation fluid volume predicted and that actually required in the first 24 hours post-injury. Exacerbations of capillary leak occur during post-burn surgical intervention, vary with timing of surgery and are higher in the presence of complications. The potential benefit ofcolloid supplementation in burns resuscitation was assessed. Patients randomised to receive supplemental 6% Hydroxyethylstarch, required smaller resuscitation fluid volumes and demonstrated less total body fluid retention during the first 24 hours post-burn. Tissue perfusion (known to be critical in this injury model) was also studied. Subcutaneous tissue oxygen tension correlated with post-burn ACR. Gastric pH monitoring revealed a degree ofgastric hypoperfusion and predicted physiological patient deterioration before the disturbance of traditional haemodynamic parameters.

Albinism refers to a group of genetic abnormalities that are associated with profound defects throughout the visual pathway. These include foveal hypoplasia, optic nerve anomalies, chiasmal misrouting, visual cortex reorganisation, and nystagmus. This study utilises optical coherence tomography and magnetic resonance imaging to assess the visual pathway in a large cohort of patients. We find that in albinism, there is maldevelopment of the fovea, with a continuation of the inner retinal layers and a failure of the photoreceptor layers to specialize. The latter abnormality is the biggest contributor to reduced visual acuity seen in albinism. The optic nerve head is characterized by presence of excess glial tissue within the optic rim indicating incomplete maturation. In addition, there is reduced peripapillary retinal never fibre layer thickness consistent with previous histology reports of reduced ganglion cell numbers in albinism. We demonstrate the ability of diffusion tractography to quantify abnormal chiasmal decussation for the first time. Moreover, we find that cortical abnormalities are related to melanin levels within the retinal pigment epithelium and axonal disorganisation. Our results show that nystagmus severity is related to the degree of foveal maldevelopment. This finding adds credence to the increasing recognition of the importance of sensory abnormalities in generating nystagmus. In conclusion, we find that in albinism, normal development of the visual pathway appears to have halted prior to reaching completion. Patients with albinism show a spectrum of anomalies ranging from resembling normality to being grossly atypical. This spectrum closely resembles stages in normal visual development. Our findings represent a step forward in the scientific understanding of visual deficits associated with albinism and are likely to aid clinicians in the management of affected patients.