CMT is the most common inherited neuropathy. At present, 43 CMT genes are known, and an examination of all known genes would probably only identify mutations in approximately 50% of those with CMT. Thus, it is probable that at least 30-50 CMT genes are yet to be identified.

BackgroundPoint mutations in the mitofusin 2 (MFN2) gene has been identified exclusively in Charcot-Marie-Tooth type 2 (CMT2), and in a single family with intermediate CMT. MFN2 point mutations are probably the most common cause of CMT2.MethodsTwo-hundred and thirty-two consecutive unselected and unrelated CMT families with available DNA from all regions in Norway were included. We screened for point mutations in the MFN2 gene.ResultsWe identified four known and three novel point mutations in 8 unrelated CMT families. The novel point mutations were not found in 100 healthy controls. This corresponds to 3.4% (8/232) of CMT families have point mutations in the MFN2 gene. The phenotypes were compatible with CMT1 in two families, CMT2 in four families, intermediate CMT in one family and distal Hereditary Motor Neuropathy (dHMN) in one family. This corresponds to 2.3% of CMT1, 5.5% of CMT2, 12.5% of intermediate CMT and 6.7% of dHMN families have a point mutation in the MFN2 gene. Point mutations in the MFN2 gene is likely to be the fourth most common cause to CMT after duplication of the peripheral myelin protein 22 (PMP22) gene, and point mutations in the Connexin32 (Cx32) and myelin protein zero (MPZ) genes.ConclusionsThe identified known and novel point mutations in the MFN2 gene expand the clinical spectrum from CMT2 and intermediate CMT to also include possibly CMT1 and the dHMN phenotypes. Thus, genetic analyses of the MFN2 gene should not be restricted to persons with CMT2.

Despite its illegality in Brazil, about 31% of all pregnancies end in abortion. Most abortions are performed by unskilled personnel and under unsafe conditions, resulting in increased female mortality. This study used data from a cross-sectional representative sample of 3,047 puerperal women, in 1999-2000, part of a national multicenter study on the prevalence of syphilis in Brazil. Of these, 1,838 women with at least one previous pregnancy before the reference pregnancy were included in the analysis. The outcomes studied were voluntary prior fetal loss, spontaneous prior fetal loss, and no prior fetal loss. The analysis was carried out using multinomial logistic regression. The results indicated a high number of fetal losses per woman (up to six); and 31% of the losses were voluntary. The absence of prenatal care, history of STD in the reference pregnancy, and absence of living children were factors that increased the odds of fetal loss. For voluntary fetal loss, being non-white, having more than one partner in the previous year, and an early age at first sexual intercourse also increased the odds of fetal loss. These data confirm the public health relevance of abortion in Brazil. Characteristics related to women´s vulnerability should be considered in family planning programs in order to reduce the number of abortions and their consequences. Counseling must also be provided, targeting women with a previous abortion.

Objetivos: avaliar a transmissão vertical do vírus da imunodeficiência humana (HIV) e os fatores de risco associados à infecção perinatal. Métodos: estudo descritivo de 170 gestantes infectadas pelo HIV e seus 188 recém-nascidos, admitidas na Maternidade do Hospital das Clínicas da UFMG, no período de junho de 1994 a setembro de 2004. Foram analisados as características demográficas, o perfil sorológico e a via de parto das gestantes, assim como os resultados perinatais. As crianças foram acompanhadas por período de 18 meses após o nascimento. Os dados foram armazenados e analisados no Epi-Info, Versão 6.0. Estabeleceu-se intervalo de confiança a 95% (p<0,05). Resultados: o diagnóstico da infecção pelo HIV foi confirmado durante a gestação em 84 (45,4%) pacientes. A carga viral era inferior a 1000 cópias/mL em 60,4% das pacientes. O esquema predominante de uso dos anti-retrovirais foi a terapia tríplice (65,5%). Foi alta a taxa de cesariana: 79,5%. A taxa de prematuridade foi 18,2%. Entre os 188 recém-natos houve 184 (97,8%) nativivos e quatro (2,2%) mortes perinatais. Dos nascidos vivos, 97,8% receberam zidovudina após o nascimento. A taxa global de transmissão materno-fetal global foi 3,8%. As taxas de transmissão vertical do vírus, por período, foram: 60%, até 1996; 28%, entre 1996 e 1998; 0,68%, entre 1999 e 2004. Não foram encontrados fatores de risco significativamente associados à infecção perinatal pelo HIV, devido ao pequeno número de recém-nascidos infectados (n=6). Conclusão: houve grande redução da transmissão vertical do HIV no período analisado. A taxa atual de transmissão é zero, confirmando que, adotando-se medidas adequadas, pode-se prevenir a transmissão perinatal do vírus.

This study is aimed at evaluating the potential to detect human immunodeficiency virus (HIV) in amniotic fluid (AF) collected at delivery from 40 HIV-positive pregnant women. Thirty patients had a plasma viral load (VL) below 1,000 copies/mL at delivery. VL was positive in three AF samples. No significant association was found between the HIV-1 RNA in AF and the maternal plasma samples. There was no HIV vertical transmission detected