The maternal 14 bp Ins/Del polymorphism in HLA-G is not associated with preeclampsia risk.

The effect of HLA-G 14 bp Ins/Del polymorphism (rs371194629) on the risk of preeclampsia has been assessed in several populations, yet the results are still conflicting. Lack of power due to small sample sizes is a common cause of inconsistencies in genetic association studies. We aimed to test whether the maternal polymorphism is associated with preeclampsia, eclampsia or HELLP syndrome (acronym for Hemolysis, Elevation of Liver enzymes, Low Platelets). To achieve a statistical power greater than 0.90, a total of 741 women (332 controls, 246 preeclampsia, 57 eclampsia and 106 HELLP) were genotyped for the 14-bp Ins/Del polymorphism. The genetic association with disease status was assessed by Fisher's exact test and odds ratio (OR) estimates using logistic regression model adjusted for maternal age and parity status. Allele and genotype distributions were the same between control and case groups (p > .05). The polymorphism was not associated with the risk of developing preeclampsia [OR = 0.93 (0.72-1.19); p = .541], or eclampsia [OR = 0.90 (0.60-1.38); p = .628] nor HELLP syndrome [OR = 0.92 (0.66-1.28); p = .628]. This well-powered study clearly demonstrates that the maternal HLA-G 14-bp Ins/Del polymorphism is not associated with preeclampsia risk. However, as the offspring genotypes were not evaluated here, we could not rule out the effect of the foetal genotype on the preeclampsia pathogenesis.

Association between ACVR2A and early-onset preeclampsia: replication study in a Northeastern Brazilian population.

INTRODUCTION: Preeclampsia is a complex and heterogeneous disease with increased risk of maternal mortality, especially for earlier gestational onset. There is a great inconsistency regarding the genetics of preeclampsia across the literature. The gene Activin A receptor, type IIA (ACVR2A), was reported as associated to preeclampsia in Australian/New Zealand and Norwegian populations. The goal of this study was to validate this genetic association in a Brazilian population. METHODS: We performed a case-control study using 693 controls and 613 cases (443 preeclampsia, 64 eclampsia and 106 HELLP syndrome), from a Northeastern Brazilian population. Five single nucleotide polymorphisms (SNPs) in ACVR2A were tested for association through multiple logistic regression models. RESULTS: There was no statistical association with preeclampsia (per se), eclampsia or HELLP. However, by grouping preeclampsia in accordance to the gestational age at delivery, SNPs rs1424954 (OR = 1.86; 95% CI, 1.25-2.78; p = 0.002) and rs1014064 (OR = 1.77; 95% CI, 1.21-2.60; p = 0.004) were significantly associated with early onset preeclampsia (gestational age ≤ 34 weeks). The risk haplotype had a frequency of 0.468 in early preeclampsia compared to 0.316 in controls (p = 0.0008 and permuted p = 0.002). DISCUSSION: Activin A receptors are important in decidualization, trophoblast invasion and placentation processes during pregnancy. The gene ACVR2A was associated with the more severe early onset preeclampsia. This finding supports the hypothesis of different pathogenic mechanisms contributing to the early- and late-onset preeclampsia.

Viridans streptococci causing community acquired pneumonia.

In children under 5 years of age, presenting to the paediatric emergency room with clinical and radiological findings of pneumonia, viridans streptococci were isolated in 10/33 positive haemocultures as the only microorganism. Viridans streptococci should therefore not be ruled out as a cause of pneumonia.

Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations.

We have performed molecular genetic analyses on 160 Brazilian patients diagnosed with cystic fibrosis (CF). Screening of mutations in 320 CF chromosomes was performed through single strand conformation polymorphism (SSCP) and heteroduplex analyses assay followed by DNA sequencing of the 27 exons and exon/intron boundaries of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The frequency of CFTR variants of T-tract length of intron 8 (IVS8 Tn) was also investigated. This analysis enabled the detection of 232/320 CF mutations (72.2%) and complete genotyping of 61% of the patients. The deltaF508 mutation was found in 48.4% of the alleles. Another fifteen mutations (previously reported) were detected: G542X, R1162X, N1303K, R334W, W1282X, G58E, L206W, R553X, 621+1G-->T, V232D, 1717-1G-->A, 2347 delG, R851L, 2789+5G-->A, and W1089X. Five novel mutations were identified, V201M (exon 6a), Y275X (exon 6b), 2686 insT (exon 14a), 3171 delC (exon 17a), and 3617 delGA (exon 19). These results contribute to the molecular characterization of CF in the Brazilian population. In addition, the identification of the novel mutation Y275X allowed prenatal diagnosis in a high-risk fetus.

Lymphoma of unknown origin located in paravertebral muscles: an unusual cause of low back pain in children.

The authors report a case of an adolescent with a poorly differentiated lymphoma of unknown origin located at paravertebral muscles, whose presently symptom was low back pain.

Avaliacao do cetotifemo no tratamento profilatico da asma bronquica na crianca. / Evaluation of ketotifen in the prophylactic treatment of asthma in children

Durante tres meses 55 criancas, portadoras de asma extrinseca, recebem como tratamento profilatico 1 mg de cetotifeno, por via oral, duas vezes ao dia, num estudo multicentrico aberto. Diversos parametros foram avaliados atraves do preenchimento de uma ficha diaria, sendo que ao final do periodo de observacao 33 criancas (60%) apresentaram bons resultados (ausencia ou diminuicao importante dos sintomas, diminuicao do uso de medicacao sintomatica). Tal estudo sera ampliado com a realizacao de um ensaio duplo-cego, comparativo entre cetotifeno e placebo, em 100 outras criancas asmaticas

[Primary amebic meningoencephalomyelitis. Report of a case]. / Meningoencefalomielite amebiana primária. Registro de caso.

A case of primary amebic meningoencephalomyelitis due to Naegleria sp observed in a 14 years old boy is reported. Symptoms due to myelitis at the dorsal level assumed ascending character during the first days of disease. Manifestations due to encephalic involvemente were discrete. Cerebrospinal fluid changes were marked by pleocytosis, and the eosinophil cells participation in the cytomorphological profile was persitently high. Amphotericin-B was used intravenously (25 mgm/day) until 1,500 mgm of total dosis. Remission of encephalitis manifestations was prompt, as well as of meningeal signs. Cerebrospinal fluid changes disappeared progressively. Sensitive-motor changes due to spinal cord involvement persisted as permanent sequelae. Naegleria sp., was isolated from the cerebrospinal fluid in the acute stage of the disease, as well as, from the water of a lagoon where the patient used to swim.