FAS gene polymorphisms (rs3740286 and rs4064) were not associated with pre-eclampsia risk.

Pre-eclampsia results in real risk and significant impact on indicators related to maternal and child health. The only known treatment is delivery of the fetus and placenta. Despite intensive research, the causes of PE remain to be elucidated. It is suggested that pre-eclampsia is caused by a global maternal inflammatory response to a damaged placenta. Besides inflammation, cytotoxic and apoptotic mechanisms are also implicated in the pathogenesis of pre-eclampsia. Considering the importance of apoptosis to pre-eclampsia genesis, the aim of this study was to determine the frequencies of the genotypes for FAS gene polymorphisms (rs3740286 and rs4064) and to associate these with pre-eclampsia development. Women with and without pre-eclampsia were investigated. Accordingly, peripheral blood was collected, and DNA extracted, followed by genotyping using Real-time PCR with hydrolysis probe. The results showed no association between genotypes and pre-eclampsia development for both polymorphisms studied (χ2=3.39; p=.177, for rs3740286 and χ2=0.119; p=.94 for rs4064). Women with familiar history of pre-eclampsia and primiparity showed more probability to develop the condition, by multiple logistic regression analysis (OR=8.61, CI=3.39-21.86, p<0.0001; OR=6.64. CI=2.94-14.99, p<0.0001, respectively). It seems that FAS gene polymorphisms (rs3740286 and rs4064) might not be important candidates for the development of pre-eclampsia.

Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.

We report on a 17-year-old patient with midline defects, ocular hypertelorism, neuropsychomotor development delay, neonatal macrosomy, and dental anomalies. DNA copy number investigations using a Whole Genome TilePath array consisting, of 30K BAC/PAC clones showed a 6.36 Mb deletion in the 9p24.1-p24.3 region and a 14.83 Mb duplication in the 20p12.1-p13 region, which derived from a maternal balanced t(9;20)(p24.1;p12.1) as shown by FISH studies. Monosomy 9p is a well-delineated chromosomal syndrome with characteristic clinical features, while chromosome 20p duplication is a rare genetic condition. Only a handful of cases of monosomy 9/trisomy 20 have been previously described. In this report, we compare the phenotype of our patient with those already reported in the literature, and discuss the role of DMRT, DOCK8, FOXD4, VLDLR, RSPO4, AVP, RASSF2, PROKR2, BMP2, MKKS, and JAG1, all genes mapping to the deleted and duplicated regions.

Familial analysis of seropositivity to Trypanosoma cruzi and of clinical forms of Chagas disease.

A cross-sectional study was carried out in Agua Comprida, MG, Brazil, a region previously endemic to Chagas disease whose vectorial transmission was interrupted around 20 year ago. A total of 998 individuals were examined for anti-Trypanosoma cruzi antibodies. Seropositivity was observed in 255 subjects (25.5%), and 743 subjects were negative. Forty-one families with 5-80 individuals with similar environmental conditions were selected for familial analysis. In 15 families, seropositivity to T. cruzi was observed in > 50% of individuals. The segregation analysis confirmed family aggregation for the seropositivity to the T. cruzi. Heart commitment was the major clinical form observed, and in six families, > 50% of the individuals display cardiopathy that may be attributed to T. cruzi infection. Our results support the hypothesis that there is a family aggregation for the seropositivity but without the effect of one major gene.

Cytogenetic analysis in lymphocytes from workers occupationally exposed to low levels of ionizing radiation.

The aim of the present study was to perform a cytogenetic analysis in peripheral lymphocytes of 36 individuals occupationally exposed to low levels of ionizing radiation, and compare the results with 36 controls, using the chromosomal aberrations test (CA), sensitivity to bleomycin and cytokinesis-blocked micronucleus assay (MN). The frequencies of CA/100 cells observed for the exposed workers were not significantly higher than in controls (P>0.05). The mean break/cell (b/c) for the controls and exposed workers was 0.59±0.39 and 0.57±0.29, respectively (P>0.01). The MN frequencies were significantly increased (P<0.01) in exposed workers (6.13±3.18) in comparison with controls (5.11±3.85). The mean MN was also statistically higher in the non-smoker exposed when compared with non-smoker controls, 5.80±3.09 and 5.15±4.08, respectively (P<0.01). The cytogenetic analysis of MN proved to be the most sensitive biological marker to assess the cellular response to low levels of irradiation.

Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations.

OBJECTIVE: To analyze the dysmorphological variability and to investigate the presence of mutations in the exon 1 of TWIST gene using direct sequencing in Brazilian families presenting with Saethre-Chotzen Syndrome (SCS). METHODS: Four families with 24 patients diagnosed as having features of SCS were studied. Phenotypic characteristics of all patients were inventoried. The investigation protocol included anamnesis, dysmorphological examination, abdominal ultrasound, spine and cranium x-ray, chromosomal analysis on GTG banding, and screening for mutations in the exon 1 of TWIST gene. RESULTS: Frequent facial features included brachycephaly (24 of 24), facial asymmetry (20 of 24), prominent ears crus (15 of 24), low-set ears (14 of 24), maxillary hypoplasia (13 of 24), prominent nasal bridge (13 of 24), ptosis of the eyelids (12 of 24), and low-set frontal hairline (12 of 24). Limb abnormalities such as partial hand cutaneous syndactyly (18 of 24), clinodactyly (13 of 24), and broad great toes (13 of 24), and partial cutaneous syndactyly of the feet (9 of 24) were also detected. Among radiological findings were relevant bicoronal (eight of nine) and unicoronal (one of nine) craniosynostosis, digital impressions (eight of nine), bilateral parietal foramina (two of nine), partial fusion 1 and 2 degrees costal arches (two of nine) and bifid spine on lumbar vertebra (two of nine). GTG-banding chromosomal analyses were normal. No TWIST gene mutations were found. CONCLUSIONS: Affected individuals in these four SCS families may carry mutations in other genes of the same developmental pathway. Considering the complexity of the genes involved in skull-limbs development, an accurate dysmorphological evaluation in patients with SCS and their families is especially important for genetic counseling.

Associaçäo entre glioxalase I e paracoccidioidomicose infecçäo / The association between glyoxalase I and paracoccidioidomycosis infection

Com o objetivo de se estudar a susceptibilidade genética à paracoccidioidomicose infecçäo, procurou-se determinar uma possível associaçäo entre a glixolase I e a reaçäo intradérmica à paracoccidioidina. O fenótipo GLO 1 ocorreu em freqüência significativamente mais alta entre os indivíduos com reaçäo positiva

Cholesterylester storage disease: report of a case

A doença de depósito de ésteres de colesterol é uma doença familiar caracterizada pelo acúmulo de ésteres de colesterol e de triglicérides no figado, intestino e medula óssea. Até o momento, apenas 21 casos foram publicados. Apresenta-se uma menina de 9 meses de idade que procurou médico por um aumento do volume abdominal. Suas provas de funçäo hepática estavam normais e apresentava níveis séricos elevado de colesterol total e de triglicérides. A biopsia de fígado examinada com luz polarizada mostrou presença de muitos cristais de colesterol. Este é o paciente diagnosticado em mais jovem idade na literatura (excetuados os casos diagnosticados por autopsia)