Genetic profile of syndromic retinitis pigmentosa in Portugal.

Purpose: Retinitis pigmentosa (RP) comprises a genetically and clinically heterogeneous group of inherited retinal degenerations, where 20-30% of patients exhibit extra-ocular manifestations (syndromic RP). Understanding the genetic profile of RP has important implications for disease prognosis and genetic counseling. This study aimed to characterize the genetic profile of syndromic RP in Portugal.

Traumatic Isolated Thumb Carpometacarpal Joint Dislocation - Report of Two Clinical Cases.

Isolated thumb carpometacarpal joint dislocation is a rare lesion that accounts for less than 1% of all hand lesions. The authors present two cases of traumatic isolated thumb carpometacarpal joint dislocation. One of them was treated with closed reduction and cast immobilization, and the other was treated with closed reduction, Kirschner-wires pinning, and cast immobilization.

Familial hemiplegic migraine due to L263V SCN1A mutation: discordance for epilepsy between two kindreds from Douro Valley.

Background: SCN1A is the most relevant gene in epilepsy. Only seven SCN1A mutations have been identified in 10 familial hemiplegic migraine (FHM) kindreds worldwide.

Cases And Kindreds: In 2009, we presented a kindred with FHM due to the L263V SCN1A mutation.