Different expression of Defensin-B gene in the endometrium of mares of different age during the breeding season.

BACKGROUND: Despite being one of the major causes of infertility in mares, the mechanisms responsible for equine endometrosis are still unclear and controversial. In the last few years, many investigations focused on local immune response modulation. Since it is generally accepted that endometrial fibrosis increases with age, we hypothesize that older mares could show altered local immune modulation, initiating a pro-inflammatory and tissue remodeling cascade of events that could lead to endometrosis. The aim of this study, indeed, is to evaluate and describe the local gene expression of genes involved in acute inflammatory response and fibrosis (COL1A1, COL3A1, TNFA, MMP9, IL6, TGFB1 and TGFBR1), together with others associated to immune modulation (DEFB4B, IDO1 and FOXP3), in uterine specimens from mares of different age. RESULTS: Twenty-five Standardbred mares were involved in the study with age ranging from 7 to 19 years (mean 10.40 ± 4.42). They were divided by age into two groups: G1 (n = 15, less than 10 years old) and G2 (N = 10, greater than 11 years old). Specimens from the uterus' right horn-body junction were collected and processed for histology evaluation and RT-qPCR assay.Gene expression of DEFB4B, MMP9 and TNFA was higher in younger mares, suggesting a balance in immune modulation and tissue remodeling. Interleukin-6 and COL3A1 gene expressions were greater in older animals, probably indicating inflammatory pathways activation and fibrosis increase. Although no differences in fibrosis and inflammation distribution could be found with histological examination among G1 and G2, our results suggest a possible involvement of DEF4BB in regulating the local immune response in younger mare's uterus (G1); age may contribute to the dis-regulation of DEFB4B transcription and, indirectly, influence the extracellular matrix homeostasis. Transcription of IDO1 and FOXP3 genes, instead, does not seem to be age related, or to be involved in local immune-response and tissue remodeling functions. CONCLUSIONS: Further investigations are needed in order to clarify the interactions between the expression of DEFB4B, IL6, TNFA, COL3A1 and MMP9 and other local signals of immune-modulation and tissue remodeling, in mares in a prospective study design.

[Therapeutic objectives and strategies in NBIA 1 (Hallovorden-Spatz syndrome)]. / Obiettivi terapeutici raggiungibili e strategie terapeutiche utilizzabili, nella NBIA 1 (s. di Hallervorden-Spatz).

A 10 years old male patient, DG, was admitted in the ICU because of continuous uncontrolled movements due to a neurologycal degenerative disease (Hallervorden-Spatz syndrome) able to determine reduction of spontaneous breathing efficacy. At admission he presented acute ventilatory failure, because of a Staphylococcus aureus broncopneumonia, so he had a tracheal tube and mechanical ventilation (pressure support). During hospitalization (4 months in ICU and 2 months in Pediatric Department) DG received tracheotomy and percutaneous gastrostomy, to obtain adequate spontaneous ventilation and artificial enteral nutrition; a satisfactory pharmacological control of choreo-athetosic movements, with not great interference with original sleep-awake cycle, was obtained. Actually DG is living in his family (9 months follow-up); he has tracheotomy and percutaneous gastrostomy; he can relate with the environment; in a few months, he'll go to school again. He need 30 daily administrations of 8 different drugs; family, supported by an integrated multidisciplinary équipe, takes care of him. The role of Intensivist is essential not only in the management of acute phases in chronic diseases, but also in the longterm management of a homely care.