Evaluation of nutritional and genetic determinants of total homocysteine, methylmalonic acid and S-adenosylmethionine/S-adenosylhomocysteine values in Brazilian childbearing-age women

Background: Cobalamin (Cbl) and folate deficiencies and gene polymorphism of key enzymes or carriers can impair homocysteine metabolism and may change the serum values of S-adenosylmethionine (SAM) and S-adenosylhomocysteine (SAH). We investigated the nutritional and genetic determinants for total homocysteine (tHcy), methylmalonic acid (MMA) and SAM/SAH in healthy Brazilian childbearing-age women. Methods: Serum concentrations of Cbl, folate, red blood cell folate, ferritin, tHcy, MMA, SAM, SAH and other metabolites were measured in 102 healthy unrelated women. The genotypes for MTHFR C677T, MTHFR A1298C, MTR A2756G, MTRR A66G, TC2 C776G, TC2 A67G and RFCI A80G gene polymorphisms were identified by PCR-RFLP. Results: Serum folate and Cbl were inversely correlated with tHcy and serum MMA, respectively. Cbl deficiency was associated with increased MMA and reduced alpha-aminobutyrate, serine and N-methylglycine concentrations. No variable was associated with SAM/SAH ratio. In addition, gene polymorphisms were not selected as determinants for tHcy, MMA and SAM/SAH ratio. Iron, Cbl and folate deficiencies were found respectively in 30.4%, 22.5% and 2.0% of individuals studied. Conclusions: There was a high frequency of Cbl and iron deficiency in this group of childbearing-age women. Serum folate and Cbl were the determinants of serum tHcy and MMA concentration, respectively. (c) 2007 Elsevier B.V. All rights reserved.

Increased MMA concentration and body mass index are associated with spontaneous abortion in Brazilian women A pilot study

Background: The pathophysiology of spontaneous abortion is complex and may involve the interaction of genetic and environmental factors. We evaluated the predictors of spontaneous abortion in Brazilian pregnant women. The effects of age, gestational age. body mass index (BMI), cigarette smoking, alcohol ingestion, use of multivitamins and concentrations of vitamins (folate, cobalamin and vitamin 136) and vitamin-dependent metabolites were analyzed. Methods: Study population included 100 healthy women that attended pre-natal care in 2 health centers of Sao Paulo, Brazil, and in whom pregnancy outcome was known. Folate and cobalamin status was measured in blood specimens collected between 4 and 16 weeks. The genotypes for 8 gene polymorphisms were evaluated by PCR-RFLP. Results: Eighty-eight women had normal pregnancy outcome (Group 1), while 12 experienced a miscarriage after blood collection (Group 2). Increased methylmalonic acid (MMA) concentrations were found in Group 2 (median [25th-75th percentile]=274 [149-425] nmol/l) relative to Group 1 (138 [98-185]) (P<0.01). No differences between the groups were observed for serum cobalamin, serum or red cell folate, and serum total homocysteine or allele frequencies for 8 polymorphisms. In a conditional logistic regression analysis including age, gestational age, serum creatinine, MMA, cystathionine, body mass index (BMI), cigarette smoking, alcohol ingestion and use of multivitamins the risk of abortion was significantly associated with MMA (OR [95% CI] = 3.80 [1.36, 10.62] per quartile increase in MMA), BMI (OR [95% CI] = 5.49 [1.29,23.39] per quartile) and gestational age (OR [95% CI] = 0.10 [0.01, 0.77] per increase of interval in gestational age). Conclusions: Increased serum MMA and BMI concentrations are associated with spontaneous abortion in Brazilian women. (C) 2009 Elsevier B.V. All rights reserved.

Relationships between gene polymorphisms of folate-related proteins and vitamins and metabolites in pregnant women and neonates

Background: The methylenetetrahydrofolate reductase (MTHFR), glutamate carboxypeptidase II (GCPII) and reduced folate carrier (RFC1) gene polymorphisms were associated with folate status. We investigated the effects of these polymorphisms on serum folate (SF) and folate-related metabolites in mothers and their neonates. Methods: Cobalamin (Cbl), SF, total homocysteine (tHcy), methylmalonic acid (MMA), S-adenosylmethionine (SAM), and S-adenosylhomocysteine (SAH) were measured in 275 healthy women and their neonates. MTHFR C677T, GCPII C1561T and RFC1 A80G polymorphisms were determined by PCR-RFLP. Results: Maternal tHcy was affected individually by MTHFR C677T and GCPII C1561T polymorphisms and by combined genotypes MTHFR 677TT/GCPII 1561CC and MTHFR 677TT/RFC1 80AG. The MTHFR and RFC1 polymorphisms were not associated with variations in vitamins or SAM, SAH and MMA in neonates. Neonatal tHcy was predicted directly by maternal tHcy and inversely by maternal SF, neonatal Cbl and neonatal RFC1 80G allele (AG+GG genotypes). Maternal MMA and SAM/SAH were predicted by creatinine and Cbl, respectively. Neonatal MMA was predicted by maternal MMA and GCPII 1561T allele (CT+TT genotypes) and by neonatal Cbl. Conclusions: Maternal tHcy was affected by MTHFR C677T, RFC1 A80G and GCPII C1561T polymorphisms. Maternal GCPII C1561T variant was associated with neonatal MMA. Neonatal RFC1 A80G polymorphism influenced tHcy in neonates. (C) 2008 Elsevier B.V. All rights reserved.

Assessing deaf and hearing children`s communication in Brazil

In Brazil there are no specific tests for either signed or spoken language for deaf children. A protocol evaluating communicative abilities independent of modality of communication (sign language or spoken language), and comprising assessments of (a) pragmatic profile; (b) modality of communication and linguistic level; (c) complexity of communication; and (d) style and efficacy of communication between parent and child was administered to 127 deaf and hearing children. The children, aged 3-6 years old, were distributed in three groups: 20 with severe hearing loss, 40 with profound hearing loss and 67 normally hearing. Deaf children were found to be delayed, independent of their linguistic level and preferred modality of communication. The protocol in this study proved to be an useful instrument for gathering relevant information about the three groups of preschool children`s communicative abilities, and particularly suitable for use in countries where standardized assessments are not available. Learning outcomes: The reader will be introduced to the use of an assessment protocol comprising its development, application and data analysis. The reader will be informed about assessment of deaf children`s preferred modality of communication, by the participation of a bilingual (sign language user) professional. Communication abilities can be assessed independently of the linguistic modality. In developing countries in general, where simple and easy to administer assessments tools are scarce, such a protocol is of specific value. (c) 2010 Elsevier Inc. All rights reserved.

Characterization of autopsy-proven fatal asthma patients in Sao Paulo, Brazil

Few data are available on autopsy-proven fatal asthma patients in Sao Paulo, Brazil. We characterized 73 asthma patients who were autopsied at the Servico de Verificacao de Obitos do Universidade de Sao Paulo between 1996 and 2004. An interview with the next of kin assessed socioeconomic status, history, and treatment of asthma. There were 42 women and 31 men. Fifty-six (76.7%) of them were older than 34 years. Sixty-three percent were Caucasians, 77.3% had < 8 years of schooling, and the median income was 1.6 times the minimum wage. Twenty-two patients (30.1%) were smokers and 14 (19.2%) were ex-smokers. Only 25 (34.2%) patients were regularly followed by a doctor. Only 12.3% received inhaled steroids. Thirty-five patients (47.9%) had moderate-to-severe asthma. Fifty-five (75.3%) deaths took place outside a hospital, We conclude that this population shares characteristics of severe or poorly controlled asthma, low educational and socioeconomic levels, and lack of medical care and of inhaled steroid use.

The magnetized steel and scintillator calorimeters of the MINOS experiment

The Main Injector Neutrino Oscillation Search (MINOS) experiment uses an accelerator-produced neutrino beam to perform precision measurements of the neutrino oscillation parameters in the ""atmospheric neutrino"" sector associated with muon neutrino disappearance. This long-baseline experiment measures neutrino interactions in Fermilab`s NuMI neutrino beam with a near detector at Fermilab and again 735 km downstream with a far detector in the Soudan Underground Laboratory in northern Minnesota. The two detectors are magnetized steel-scintillator tracking calorimeters. They are designed to be as similar as possible in order to ensure that differences in detector response have minimal impact on the comparisons of event rates, energy spectra and topologies that are essential to MINOS measurements of oscillation parameters. The design, construction, calibration and performance of the far and near detectors are described in this paper. (C) 2008 Elsevier B.V. All rights reserved.