Association between the thrombophilic polymorphisms MTHFR C677T, Factor V Leiden, and prothrombin G20210A and recurrent miscarriage in Brazilian women.

Some cases of recurrent first trimester miscarriage have a thrombotic etiology. The aim of this study was to investigate the prevalence of the most common thrombophilic mutations - factor V (FV) Leiden G1691A (FVL), prothrombin (FII) G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T - in women with recurrent miscarriages. In this case-control study, we included 137 women with two or more consecutive first-trimester miscarriages (£12 weeks of gestation) and 100 healthy women with no history of pregnancy loss, and with at least one living child. DNA was extracted from the patient samples, and the relevant genes (FVL, FII, and MTHFR) were amplified by PCR, followed by restriction fragment length polymorphism, to assess the polymorphisms in these genes. The allelic frequencies of polymorphisms were not significantly different between the case and control groups. Polymorphisms in the MTHFR, FVL, and FII genes were not associated with recurrent miscarriage during the first trimester of pregnancy in Brazilian women (P = 0.479; P = 0.491 and P = 0.107, respectively). However, the etiologic identification of genetic factors is important for genetic counseling.

n-3 polyunsaturated fatty acid supplementation reduces insulin resistance in hepatitis C virus infected patients: a randomised controlled trial.

BACKGROUND: Insulin resistance promotes liver disease progression and may be associated with a lower response rate in treated hepatitis C virus (HCV) infected patients. n-3 polyunsaturated fatty acid (PUFA) supplementation may reduce insulin resistance. The present study aimed to evaluate the effect of n-3 PUFA supplementation on insulin resistance in these patients. METHODS: In a randomised, double-blind clinical trial, 154 patients were screened. After applying inclusion criteria, 52 patients [homeostasis model assessment index of insulin resistance (HOMA-IR ≥2.5)] were randomly divided into two groups: n-3 PUFA (n = 25/6000 mg day(-1) of fish oil) or control (n = 27/6000 mg day(-1) of soybean oil). Both groups were supplemented for 12 weeks and underwent monthly nutritional consultation. Biochemical tests were performed at baseline and after intervention. Statistical analysis was performed using the Wilcoxon Mann-Whitney test for comparisons and the Wilcoxon test for paired data. Statistical package r, version 3.02 (The R Project for Statistical Computing) was used and P < 0.05 (two-tailed) was considered statistically significant. RESULTS: Comparisons between groups showed that n-3 PUFA supplementation was more effective than the control for reducing HOMA-IR (P = 0.015) and serum insulin (P = 0.016). The n-3 PUFA group not only showed a significant reduction in HOMA-IR 3.8 (3.2-5.0) versus 2.4 (1.8-3.3) (P = 0.002); serum insulin 17.1 (13.8-20.6) µIU mL(-1) versus 10.9 (8.6-14.6) µIU mL(-1) (P = 0.001); and glycated haemoglobin 5.4% (5.0-5.7%) versus 5.1% (4.8-5.6%) (P = 0.011), but also presented an increase in interleukin-1 97.5 (0.0-199.8) pg mL(-1) versus 192.4 (102.2-266.8) pg mL(-1) (P = 0.003) and tumour necrosis factor 121.2 (0.0-171.3) pg mL(-1) versus 185.7 (98.0-246.9) pg mL(-1) (P = 0.003). CONCLUSIONS: n-3 PUFA supplementation reduces insulin resistance in genotype 1 HCV infected patients.

New studies of second and fourth digit ratio as a morphogenetic trait in subjects with congenital adrenal hyperplasia.

OBJECTIVES: Congenital adrenal hyperplasia (CAH) is a disease that occurs during fetal development and can lead to virilization in females or death in newborn males if not discovered early in life. Because of this there is a need to seek morphological markers in order to help diagnose the disease. In order to test the hypothesis that prenatal hormones can affect the sexual dimorphic pattern 2D:4D digit ratio in individual with CAH, the aim of this study was to compare the digit ratio in female and male patients with CAH and control subjects. METHODS: The 2D:4D ratios in both hands of 40 patients (31 females-46, XX, and 9 males-46, XY) were compared with the measures of control individuals without CAH (100 males and 100 females). RESULTS: Females with CAH showed 2D:4D ratios typical of male controls (0.950 and 0.947) in both hands (P < 0.001). In CAH males the left hand 2D:4D ratio (0.983) was statistically different from that of male controls (P < 0.05). CONCLUSIONS: These finding support the idea that sexual dimorphism in skeletal development in early fetal life is associated with differences between the exposure to androgens in males and females, and significant differences associated with adrenal hyperplasia. Although the effects of prenatal androgens on skeletal developmental are supported by numerous studies, further investigation is yet required to clarify the disease and establish the digit ratio as a biomarker for CAH.

Evaluation of panoramic radiomorphometric indices related to low bone density in sickle cell disease.

SUMMARY: In sickle cell disease, erythroid hyperplasia causes trabecular destruction leading to low bone density. This condition could be suspected by the radiomorphometric indices and your diagnosis becomes relevant in a multidisciplinary context of health care for sickle cell subjects, providing prognostics and contributing to determine adequate therapeutic and preventive actions. INTRODUCTION: The aim of this study was to assess the risk of low bone density in subjects with sickle cell disease (SCD) through analysis of panoramic radiographic exams by radiomorphometric indices. METHODS: Seventy-eight Brazilian subjects with SCD took part in this study and were subdivided into four groups: (I) 31 SCD subjects aged under 40 years; (II) 13 SCD subjects aged 40 years or more; (III) 12 normal subjects aged under 40 years; and (IV) 22 normal subjects aged 40 years or more. In the panoramic radiographs, the mandibular cortical index (MCI) classification, increased spacing of the trabecular bone, panoramic mandibular index (PMI), and mental index (MI) were evaluated. Exact Fisher's test was used to compare age between the different groups. Descriptive analysis of the data was performed to evaluate the simple visual estimation of low bone density (increased bone trabecular space and MCI), and a one-way analysis of variance (Bonferroni criteria) was used to compare the means of the quantitative indices (PMI and MI). The significance level was p < 0.05. RESULTS: In the MCI classification, C2 was more prevalent, especially in groups I and IV. Increased spacing of the trabecular bone was more frequent in groups I and II. MI did not show a statistically significant difference among the groups. PMI showed a statistically significant difference only between groups III and IV. CONCLUSIONS: The radiomorphometric indices applied in the present study can be used on panoramic radiographs to detect the presence of low bone density in SCD subjects.