RESUMO
Chromosome 18 pericentric inversion carriers could have offspring with recombinant chromosomes, leading to patients with clinical variable manifestations. Patients with 18p-/18q+ rearrangements share some clinical characteristics, while other characteristics differ. Factors for such divergence include the length of the inverted segment, among others. Here, we describe a Peruvian child with dysmorphic features, intellectual disability persistent microscopic hematuria, aortic pseudocoarctation, and descending aorta arteritis, among others. Karyotype analysis of family members determined the mother as the carrier of a pericentric inversion: 18[inv(18)(p11.2q21.3)]. This child carries a recombinant chromosome 18, with chromosomal microarray analysis detecting two genomic imbalances in patient's chromosome 18: one duplicated region and one deleted segment in the large and the short arms, respectively. Persistent microscopic hematuria has not been reported among 18p-/18q+ phenotypes. Our patient elucidates that other factors play significant and yet unknown roles for not fulfilling the proposed genotype-phenotype correlation associated with hemizygosity in this type of recombinant chromosome 18 or presenting these features as the patient ages.
RESUMO
Vibrio owensii is one of the most virulent vibrios known being able to kill crustacean larvae at 10(2) CFU ml(-1). This study describes virulence changes to naïve strains of Vibrio harveyi and Vibrio campbellii when infected with the bacteriophage VOB from a closely related species V. owensii 47666-1. The bacteriophage from V. owensii was induced into lytic phase by using mitomycin C at 100 ng ml(-1). One strain of V. harveyi and two strains of V. campbellii from 29 tested containing no prophage were susceptible to lysogenic conversion with VOB. Virulence changes induced in Harveyi clade bacteria included the up-regulation of protein secretion, statistically significant increased haemolysin and chitinase production and increased mortality to nauplii of Penaeus monodon. No change in siderophore production was observed. Bacteriophage VOB is likely to be responsible for some of the virulence factors expressed by V. owensii. As this bacteriophage is able to infect strains of V. harveyi and V. campbellii this phage may contribute to increased virulence of other vibrios in aquaculture and in the natural environment.
RESUMO
Durante un periodo de 20 meses, las caracteristicas clinicas y de laboratorio de 54 pacientes con Lupus eritematoso sistemico, fueron relacionadas con la presencia del anticuerpo anti-sm. Este anticuerpo fue positivo en 19 casos. Este grupo tuvo una enfermedad menos severa que el anti-sm negativo:1.- proteinuria 2/19 vs 22/35 (p<0.005); 2.- sindrome nefrotico 2/19 vs 7/35 (p<0.005); 3.- glomerulonefritis 1/7 vs 9/13 (p<0.005); y 4.- pleutiris en 3/19 vs 14/35 (p<0.005). Estos hallazgos sugieren que la presencia de anti-sm en LES identifica un subgrupo de pacientes con una forma mas benigna de la enfermedad.
