MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

Nonsyndromic oral clefts (NSOC) are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1 CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp), 0.169 (173 bp), 0.096 (171 bp) and 0.67 (169 bp). A transmission disequilibrium test with a family-based association test (FBAT) software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005). These results suggest that the CA repeat polymorphism of the MSX1 gene may play a role in risk of NSOC in populations from Southern Brazil.

Tratamento cirúrgico de meningomielocele no período neonatal / Urgical trearment of meningomyelocele defects in neonatal period

As meningomieloceles são defeitos congênitos de fechamento do canal medular, com gravidade variável. Os defeitos são encontrados principalmente na região lombossacra e há hidrocefalia em 80-90% dos casos. O objetivo deste trabalho foi estudar uma série de pacientes operados por meningomielocele no período neonatal, no período de janeiro de 2001 a janeiro de 2003. Foram incluídos 22 pacientes no estudo, sendo 12 (54,5%) masculinos e 19 (86%) de etnia caucasiana. A maioria dos pacientes eram a termo (37,5±1,3 semanas) e com peso adequado para idade gestacional (2960,5±609,6 gramas). Foi realizada cesárea em 16 casos (72,7%). O fechamento foi executado da seguinte forma: primário em 5 casos (23%); "skin-over-skin" em 6 casos (27%); bipediculado fasciocutâneo bilateral em 5 casos (23%); bipediculado fasciocutâneo unilateral em 1 caso (5%); fasciocutâneo com pedículo superior em 2 casos (9%); bilobado fasciocutâneo em 1 caso (5%); fasciocutâneo em S em 2 casos (9%). Houve DVP em 18 casos (81,8%). As complicações ocorridas foram: deiscência de sutura (23%); necrose parcial (18%) e fístulas (14%). A técnica "skin-over-skin" e os retalhos fasciocutâneos são alternativas efetivas para o fechamento de meningomieloceles no período neonatal.

Purpose: To study the incidence surgical treatment oflargeth or acolumbar meningomyeloceles duringathree- year period in a Brazilian referral center. Patients and methods: We prospectively evaluated all patients submitted to surgical management of meningomyelocele by both the plastic surgery and neurosurgery teams of Hospital de Clínicas de Porto Alegre between September 2001 and August 2003. Results: Twenty four patients were included in this study, being 13 (54.2%) males and 21 (87.5%) of Caucasian ethnicity. Most patients were born at term (37,5±1,3 weeks) and with weight adjusted for gestacional age (2960,5±609,6 gram). The closing was executed of the following form: direct skin approximation in 5 cases (23%); "skin-over-skin" in 6 cases (27%); bilateral bipedicled fasciocutaneous flaps in 5 cases (23%);unilateral bipedicled fasciocutaneous flap sin 1 case (5%); superior pedicled asciocutaneous in 2 cases (9%); bilobed fasciocutaneous flap in 1 case (5%); bilateral fasciocutaneous flaps (S flap) in 2 cases (9%). V-P shunt was placed in 18 cases (81.8%). Suture dehiscence (23%); partial necrosis (18%) and fistulas (14%) were the main complications. Conclusion: Skin-over-skin and fasciocutaneous flaps are good alternative for reconstruction of meningomielocele sin the neonatalperiod.