Genomic alterations detected by comparative genomic hybridization in ovarian endometriomas

Endometriosis is a complex and multifactorial disease. Chromosomal imbalance screening in endometriotic tissue can be used to detect hot-spot regions in the search for a possible genetic marker for endometriosis. The objective of the present study was to detect chromosomal imbalances by comparative genomic hybridization (CGH) in ectopic tissue samples from ovarian endometriomas and eutopic tissue from the same patients. We evaluated 10 ovarian endometriotic tissues and 10 eutopic endometrial tissues by metaphase CGH. CGH was prepared with normal and test DNA enzymatically digested, ligated to adaptors and amplified by PCR. A second PCR was performed for DNA labeling. Equal amounts of both normal and test-labeled DNA were hybridized in human normal metaphases. The Isis FISH Imaging System V 5.0 software was used for chromosome analysis. In both eutopic and ectopic groups, 4/10 samples presented chromosomal alterations, mainly chromosomal gains. CGH identified 11q12.3-q13.1, 17p11.1-p12, 17q25.3-qter, and 19p as critical regions. Genomic imbalances in 11q, 17p, 17q, and 19p were detected in normal eutopic and/or ectopic endometrium from women with ovarian endometriosis. These regions contain genes such as POLR2G, MXRA7 and UBA52 involved in biological processes that may lead to the establishment and maintenance of endometriotic implants. This genomic imbalance may affect genes in which dysregulation impacts both eutopic and ectopic endometrium.

Gene expression of estrogen and oxytocin receptors in the uterus of pregnant and parturient bitches

In the canine species, the precise mechanisms of pregnancy maintenance and the initiation of parturition are not completely understood. The expression of genes encoding the receptors for estrogen (ERα mRNA) and oxytocin (OTR mRNA) was studied in the endometrium and myometrium during pregnancy and parturition in dogs. Real-time PCR was performed to quantify the levels of ERα mRNA and OTR mRNA in the uterus of bitches during early (up to 20 days of gestation), mid (20 to 40 days) and late pregnancy (41 to 60 days), and parturition (first stage of labor). All tissues expressed ERα and OTR mRNA, and are thus possibly able to respond to eventual estrogen and oxytocin hormonal stimuli. No statistically significant differences in the expression of ERα mRNA were verified in the endometrium and myometrium throughout pregnancy and parturition, but expression of OTR mRNA increased at both parturition and late pregnancy. We concluded that the increase of endometrial and myometrial OTR mRNA expression in dogs is not an event dependent on estrogenic stimulation. Moreover, the contractility response of the canine uterus to oxytocin begins during pregnancy and maintains myometrial activity. The expression of OTR mRNA in canine uterine tissues varied over time, which supports an interpretation that the sensitivity and response to hormone therapy varies during the course of pregnancy and labor. Further studies are needed to elucidate the factors underlying the synthesis of uterine oxytocin receptors and the possible role of ERβ rather than ERα in the uterine tissues during pregnancy and parturition in dogs.

Morfologia e função cardíacas em pacientes renais crônicos, com ou sem diurese residual, em tratamento hemodialítico

Em pacientes com doença renal crônica (DRC) em hemodiálise (HD), a hipertrofia ventricular esquerda (HVE) está relacionada ao aumento do índice de resistência vascular periférica (IRVP) total e à sobrecarga de volume. A presença da diurese residual (DR) nesses pacientes possibilita maior controle volêmico. Avaliamos as modificações morfofuncionais do ventrículo esquerdo (VE) em pacientes com DRC em HD com e sem diurese residual. Trinta e um pacientes não diabéticos foram divididos em dois grupos: com diurese residual (DR+) (n = 17) e sem diurese residual (DR-) (n = 14). Em ambos os grupos, DR+ vs. DR-, ocorreram diferenças no índice cardíaco (3,9 ± 0,20 vs. 3,0 ± 0,21 L/min/m²; p = 0,0056), no índice sistólico (54 ± 2,9 vs. 45 ± 3,3 mL/b/m²; p = 0,04), no volume diastólico final (141 ± 6,7 vs. 112 ± 7,6 mL; p = 0,008), no diâmetro diastólico final (52 ± 0,79 vs. 48 ± 1,12 mm; p = 0,0072) e no IRVP total (1.121 ± 56 vs. 1.529 ± 111 dina.seg.cm-5; p = 0,001). O grupo DR+ apresentou menor espessamento relativo de parede (ERP) do que o DR- (0,38 ± 0,01 vs. 0,45 ± 0,01; p = 0,0008). A fração de ejeção (66,00 ± 1,24 vs. 66,0 ± 1,46%; p = 0,873) e o índice de massa ventricular esquerda (132 ± 6,0 vs. 130 ± 8,3 g/m; p = 0,798) foram similares em ambos os grupos. O volume de diurese residual correlacionou-se com o espessamento da parede ventricular (r = 0,42; p = 0,0186) e com o índice de resistência vascular periférica (r = -0,48; p = 0,0059). Em conclusão, a presença ou não da diurese residual, em pacientes com doença renal crônica e em hemodiálise, pode ser responsável por modificações na função cardíaca sistólica.