Neurodevelopmental profile of siblings with Angelman syndrome due to pathogenic UBE3A variants.

BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder caused by a lack of expression of the maternally inherited UBE3A gene on chromosome 15. Individuals with AS due to a UBE3A mutation are more likely to have siblings who also have AS compared with those with AS due to other cytogenetic/molecular mechanisms, but it is unknown whether the developmental outcome of siblings who have AS is similar. METHODS: Through an ongoing AS Natural History Study, we identified seven pairs of siblings with AS due to a UBE3A mutation. We compared the neurodevelopment of the first-born and second-born siblings with AS participants who have a UBE3A mutation and have either typically developing siblings or no siblings. RESULTS: Second-born AS participants due to a UBE3A mutation were more likely to be diagnosed at an earlier age. With the exception of higher expressive language scores among the second-born participants, no other differences were observed in the developmental and adaptive functioning skills across the different groups. CONCLUSIONS: The presence of an older sibling with the same neurodevelopmental disorder is associated with an earlier age of diagnosis and may be associated with an improvement in expressive language skills; the developmental outcome of siblings with AS due to a UBE3A mutation is otherwise comparable.

Determination of Teflon thickness with laser speckle. I. Potential for burn depth diagnosis.

A quantitative method for determining the depth of burn eschar would aid surgeons in determining whether to excise and subsequently graft a burn wound. We hypothesize that tissue viability could be assessed by an analysis of the spatial modulation of near-field laser speckle by flowing blood. A feasibility study of the technique was performed with two-layer tissue phantoms used to simulate a burn wound. A sheet of polytetrafluoroethylene (PTFE) was used to simulate nonperfused burn eschar, and tissue perfusion within deeper layers was represented by Brownian motion from a scattering solution. A low-power He-Ne laser was focused onto the target, and the resulting speckle image was captured with a CCD camera and stored on a computer for further processing. The diameter of the speckle pattern was found to be directly proportional to the thickness of the overlying layer. These data suggest that the thickness of PTFE can be determined to ±100-µm accuracy with 95% confidence and may be suitable for burn depth detection in vivo.

Blistering on a squamous cell carcinoma graft site in a patient with bullous pemphigoid.

Bullous pemphigoid is a blistering disorder with blisters arising from normal, otherwise uninvolved tissue or from urticarial or erythematous plaques localized mainly on the trunk or upper extremities. Neoplasms, such as squamous cell carcinomas, have also been reported in patients with bullous pemphigoid. Large squamous cell carcinomas (greater than 8 cm in diameter) are best treated by surgical excision. We report a patient with bullous pemphigoid and squamous cell carcinoma who showed blisters on his graft site.