Methylenetetrahydrofolate reductase mutations, a genetic cause for familial recurrent neural tube defects.

Methylenetetrahydrofolate reductase (MTHFR) gene mutations have been implicated as risk factors for neural tube defects (NTDs). The best-characterized MTHFR genetic mutation 677C→T is associated with a 2–4 fold increased risk of NTD if patient is homozygous for this mutation. This risk factor is modulated by folate levels in the body. A second mutation in the MTHFR gene is an A→C transition at position 1298. The 1298A→C mutation is also a risk factor for NTD, but with a smaller relative risk than 677C→T mutation. Under conditions of low folate intake or high folate requirements, such as pregnancy, this mutation could become of clinical importance. We present a case report with MTHFR genetic mutation, who presented with recurrent familial pregnancy losses due to anencephaly/NTDs.

Fatores relacionados à insulinoterpia no diabete melito gestacional / Factors related to Insulin therapy on gestational diabetes mellitus

Objetivo: Avaliar as características das gestantes que necessitaram de insulinoterapia para o tratamentodo Diabete Gestacional. Métodos: Estudo retrospectivo descritivo. Foramselecionadas 231 gestantes com Diabete Gestacional, no período de janeiro de 2004 até julho de 2006, divididas em dois grupos, um que necessitou de insulinoterapia para controle glicêmico (n=78) e outro que utilizou apenas dietoterapia (n=173).Resultados: 33,8% das gestantes utilizaram insulina. A idade materna (p<0,01) e o número de gestaçõesanteriores (p<0,01) foram maiores no grupo que utilizou insulina, e a idade gestacional de início do tratamento(p=0,02) foi menor neste grupo. O índice de massa corporal, ganho de peso durante a gestação, as glicemiano teste de tolerância oral à glicose com 75 gramas não apresentaram diferença (p>0,05). Conclusão: As gestantes com idade elevada, maior número de gestações anteriores e com chegada mais precoce ao serviço são as que mais necessitaram insulina para controle glicêmico.

Purpose: To evaluate the characteristics of pregnant patients who required insulin therapy for Gestational Diabetes management. Methods: A descriptive retrospective study. Were chosen 231 pregnant woman with Gestational Diabetes, on period of January 2004 to July 2006, divided into two groups, one which required insulin therapy for glucose control (n=78) and another group that used only diet control (n=173). Results: 33,8% of patients used insulin. Maternal age (p<0,01) and number or previous pregnancies (p<0,01) were higher in the group using insulin and gestational age at start of treatment (p=0,02) was lower. Body mass index, weight gain during pregnancy, glucose on oral glucose tolerance test with 75 grams did not show difference (p>0,05). Conclusion: older pregnant patients, those withhigher number of previous pregnancies and earlier beginning of management were those who most needed insulin for glucose control.