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Extraintestinal manifestations of inflammatory bowel disease:Do they influence treatment and outcome?

World Journal of Gastroenterology 2011年第22期17卷 2702-2707页

作者： Fernando Tavarela Veloso Department of Gastroenterology Hospital S. Joao Faculdade de Medicina Al. Prof. Hernani Monteiro 4200-319 Porto Portugal

Crohn's disease and ulcerative colitis are chronic inflammatory bowel diseases that often involve organs other than those of the gastrointestinal tract. Immune-related extraintestinal manifestations (EIMs) are usually related to disease activity, but sometimes may take an independent course. Globally, about one third of patients develop these systemic manifestations. Phenotypic classification shows that certain subsets of patients are more susceptible to developing EIMs, which frequently occur simultaneously in the same patient overlapping joints, skin, mouth, and eyes. The clinical spectrum of these manifestations varies from mild transitory to very severe lesions, sometimes more incapacitating than the intestinal disease itself. The great majority of these EIMs accompany the activity of intestinal disease and patients run a higher risk of a severe clinical course. For most of the inflammatory EIMs, the primary therapeutic target remains the bowel. Early aggressive therapy can minimize severe complications and maintenance treatment has the potential to prevent some devastating consequences.

关键词： Inflammatory bowel disease Immune-related extraintestinal manifestations Treatment

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Major regulatory mechanisms involved in sperm motility

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Asian Journal of Andrology 2017年第1期19卷 5-14页

作者： Rute Pereira Rosalia Sa Alberto Barros Mario Sousa Department of Microscopy Laboratory of Cell Biology Institute of Biomedical Sciences Abel Salazar University of Porto (ICBAS-UP) Rua Jorge Viterbo Ferreira 2284050-313 Porto Portugal and Multidisciplinary Unit for Biomedical Research-UMIB ICBAS-UP Centre for Reproductive Genetics Alberto Barros Av. do Bessa 2401° Dto. Frente 4100-012 Porto Portugal Department of Genetics Faculty of Medicine University of Porto. Alameda Prof. Hernani Monteiro 4200-319 Porto Portugal and Institute of Health Research an Innovation (13S) University of Porto Portugal.

The genetic bases and molecular mechanisms involved in the assembly and function of the flagellum components as well as in the regulation of the flagellar movement are not fully understood, especially in humans. There are several causes for sperm immotility, of which some can be avoided and corrected, whereas other are related to genetic defects and deserve full investigation to give a diagnosis to patients. This review was performed after an extensive literature search on the online databases PubMed, ScienceDirect, and Web of Science. Here, we review the involvement of regulatory pathways responsible for sperm motility, indicating possible causes for sperm immotility. These included the calcium pathway, the cAMP-dependent protein kinase pathway, the importance of kinases and phosphatases, the function of reactive oxygen species, and how the regulation of cell volume and osmolarity are also fundamental components. We then discuss main gene defects associated with specific morphological abnormalities. Finally, we slightly discuss some preventive and treatments approaches to avoid development of conditions that are associated with unspecified sperm immotility. We believe that in the near future, with the development of more powerful techniques, the genetic causes of sperm immotility and the regulatory mechanisms of sperm motility will be better understand, thus enabling to perform a full diagnosis and uncover new therapies.

关键词： antioxidants calcium membrane channels protein kinases sperm genetic abnormalities sperm motility

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Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia

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Asian Journal of Andrology 2017年第3期19卷 338-345页

作者： Carolina Goncalves Mariana Cunha Eduardo Rocha Susana Fernandess, Joaquina Silva Luis Ferraz Cristiano Oliveira Alberto Barros Mairio Sousa Department of Biology ClCECO University of Aveiro Campus Universitario de Santiago 3810-193 Aveiro Portugal Department of Microscopy Laboratory of Cell Biology Institute of Biomedical Sciences Abel Salazar University of Porto (ICBAS-UP) Rua Jorge Viterbo Ferreira 228 4050-313 Porto Portugal and Multidisciplinary Unit for Biomedical Research ICBAS-UP Portugal Centre for Reproductive Genetics prof. Alberto Barros Av. do Bessa 240 1° Dto. Frente 4100-009 Porto Portugal Department of Microscopy Laboratory of Histology and Embryology ICBAS-UP Rua Jorge Viterbo Ferreira 228 4050-313 Porto Portugal Department of Genetics Faculty of Medicine University of Porto Alameda Prof. Hernani Monteiro 4200-319 Porto Portugal and Institute for Innovation and Health Research (13S) University of Porto Portugal Department of Urology Hospital Center of Vila Nova de Gala Rua Conceicao Fernandes 4430-502 Vila Nova de Gala Portugal.

The aim of the present work was to present the outcomes of the patients with Y-chromosome microdeletions treated by intracytoplasmic sperm injection （ICSI）, either using fresh （TESE） or frozen-thawed （TESE-C） testicular sperm and ejaculated sperm （EJAC）. The originality of this work resides in the comparisons between the different types of Y-microdeletions （AZFa, AZFb, and AZFc） and treatments, with detailed demographic, stimulation, embryological, clinical, and newborn （NB） outcomes. Of 125 patients with Y-microdeletions, 33 patients presented severe oligozoospermia （18 performed ICSI with ejaculated sperm） and 92 secretory azoospermia （65 went for TESE with 40 having successful sperm retrieval and performed ICSI）. There were 51 TESE treatment cycles and 43 TESE-C treatment cycles, with a birth of 19 NB （2 in AZFa/TESE-C, 12 in AZFc/TESE, and 5 in AZFc/TESE-C）. Of the 29 EJAC cycles, there was a birth of 8 NB （in AZFc）. In TESE and EJAC cycles, there were no significant differences in embryological and clinical parameters. In TESE-C cycles, there was a significant lower oocyte maturity rate, embryo cleavage rate and mean number of embryos transferred in AZFb, and a higher mean number of oocytes and lower fertilization rate in AZFc. In conclusion, although patients with AZFc microdeletions presented a high testicular sperm recovery rate and acceptable clinical outcomes, cases with AZFa and AZFb microdeletions presented a poor prognosis. Due to the reported heredity of microdeletions, patients should be informed about the infertile consequences on NB and the possibility of using preimplantation genetic diagnosis for female sex selection.

关键词： intracytoplasmic sperm injection newborn outcomes nonobstructive azoospermia severe oligozoospermia testicularsperm extraction Y-chromosome microdeletions

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