A Transposição Valvular nos Doentes com Úlceras dos Membros Inferiores Consequentes a Síndromes Pós-Trombóticos

Venous ulcers in patients with post thrombotic syndromes are complex situations with multiple therapeutic options. They are responsible for high morbidity rates, conservative treatment is very slow and recurrences are very common. Deep venous reconstructive surgery is an alternative, but it should be based on the morphologic and functional aspects of the venous system and only adopted after a very careful study, including venography. The authors describe a morphological "pattern", found in some of these patients and related to the competence of the saphenous femoral junction, rendering possible to perform a valvular transposition. Seven patients with post thrombotic ulcers who have been treated during the last 6 years in which the pattern already described was detect, underwent a transposition of the superficial femoral vein, to the great saphenous vein and when necessary complemented with skyn grafts. Before the operation all patients had ulcers with more than 3 cm in size (3.2-5.4 cm) and with more than 4 months duration (4-16 months). All ulcers healed in the postoperative period (mean time 28 days). All patients have been reevaluated in 2003 and it was diagnosed the thrombosis of two procedures, one of them with the recurrence of the ulcer who healed with conservative treatment. The authors consider this method as a very easy technique to perform, although rarely used, and a valid alternative in a highly selected group of patients.

A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH. Although the autosomal recessive (AR)form of CMD had been mapped to 6q21-22 the mutation has been elusive. In this study, we performed whole-exome sequencing for one subject with AR CMD and identified a novel missense mutation (c.716G>A, p.Arg239Gln) in the C-terminus of the gap junction protein alpha-1 (GJA1) coding for connexin 43 (Cx43). We confirmed this mutation in 6 individuals from 3 additional families. The homozygous mutation cosegregated only with affected family members. Connexin 43 is a major component of gap junctions in osteoblasts, osteocytes, osteoclasts and chondrocytes. Gap junctions are responsible for the diffusion of low molecular weight molecules between cells. Mutations in Cx43 cause several dominant and recessive disorders involving developmental abnormalities of bone such as dominant and recessive oculodentodigital dysplasia (ODDD; MIM #164200, 257850) and isolated syndactyly type III (MIM #186100), the characteristic digital anomaly in ODDD. However, characteristic ocular and dental features of ODDD as well as syndactyly are absent in patients with the recessive Arg239Gln Cx43 mutation. Bone remodeling mechanisms disrupted by this novel Cx43 mutation remain to be elucidated.