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1.
María C. Lanuza-López Sandra G. Martínez-Garza Jesús F. Solórzano-Vázquez Daniela Paz-Cervantes Claudia González-Ortega Israel Maldonado-Rosas 《Gynecological endocrinology》2020,36(9):829-834
AbstractOocyte maturation defect is a challenging situation in the management of infertility, the etiology may be related to endocrine causes, protocols used in ovarian stimulation, oocyte intrinsic defects or procedures in embryology laboratory. We report three Mexican females in treatment for primary infertility with non-mature oocytes after ovary stimulation and oocyte capture in whom a genetic diagnosis of TUBB8-oocyte maturation defect was revealed by exome sequencing. Two couples achieved pregnancies though oocyte donation after establishing the genetic etiology. Our results expand the role of TUBB8-disorders in patients of non-Asian ethnicity. Oocyte maturation defects of monogenic origin are a growing group of disorders that endocrinologists and reproductive medicine specialists should be aware in order to provide referral to genetics for establish a correct and opportune diagnosis. 相似文献
2.
María del Carmen Azorín Samper Marta Hernandorena Gonzlez Alberto Ibez Arias Sandra Díaz Sierra Marta Bertolo Domínguez Flix Checa Ayet 《The breast journal》2020,26(2):252-254
Breast pseudoaneurysms after a core needle biopsy are a rare complication with a low incidence. However, it is important to be aware of the possibility of complications that require treatment. 相似文献
3.
Julie Despres Yasmina Ramdani Marine di Giovanni Magalie Bnard Abderrakib Zahid Mait Montero‐Hadjadje Florent Yvergnaux Thibaut Saguet Azeddine Driouich Marie‐Laure Follet‐Gueye 《Experimental dermatology》2019,28(8):922-932
It is well recognized that the world population is ageing rapidly. Therefore, it is important to understand ageing processes at the cellular and molecular levels to predict the onset of age‐related diseases and prevent them. Recent research has focused on the identification of ageing biomarkers, including those associated with the properties of the Golgi apparatus. In this context, Golgi‐mediated glycosylation of proteins has been well characterized. Additionally, other studies show that the secretion of many compounds, including pro‐inflammatory cytokines and extracellular matrix–degrading enzymes, is modified during ageing, resulting in physical and functional skin degradation. Since the Golgi apparatus is a central organelle of the secretory pathway, we investigated its structural organization in senescent primary human dermal fibroblasts using confocal and electron microscopy. In addition, we monitored the expression of Golgi‐related genes in the same cells. Our data showed a marked alteration in the Golgi morphology during replicative senescence. In contrast to its small and compact structure in non‐senescent cells, the Golgi apparatus exhibited a large and expanded morphology in senescent fibroblasts. Our data also demonstrated that the expression of many genes related to Golgi structural integrity and function was significantly modified in senescent cells, suggesting a relationship between Golgi apparatus function and ageing. 相似文献
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Xiaoyan Lu Isabelle R. Miousse Sandra V. Pirela Jodene K. Moore Stepan Melnyk 《Nanotoxicology》2016,10(5):629-639
Evidence continues to grow on potential environmental health hazards associated with engineered nanomaterials (ENMs). While the geno- and cytotoxic effects of ENMs have been investigated, their potential to target the epigenome remains largely unknown. The aim of this study is two-fold: 1) determining whether or not industry relevant ENMs can affect the epigenome in vivo and 2) validating a recently developed in vitro epigenetic screening platform for inhaled ENMs. Laser printer-emitted engineered nanoparticles (PEPs) released from nano-enabled toners during consumer use and copper oxide (CuO) were chosen since these particles induced significant epigenetic changes in a recent in vitro companion study. In this study, the epigenetic alterations in lung tissue, alveolar macrophages and peripheral blood from intratracheally instilled mice were evaluated. The methylation of global DNA and transposable elements (TEs), the expression of the DNA methylation machinery and TEs, in addition to general toxicological effects in the lung were assessed. CuO exhibited higher cell-damaging potential to the lung, while PEPs showed a greater ability to target the epigenome. Alterations in the methylation status of global DNA and TEs, and expression of TEs and DNA machinery in mouse lung were observed after exposure to CuO and PEPs. Additionally, epigenetic changes were detected in the peripheral blood after PEPs exposure. Altogether, CuO and PEPs can induce epigenetic alterations in a mouse experimental model, which in turn confirms that the recently developed in vitro epigenetic platform using macrophage and epithelial cell lines can be successfully utilized in the epigenetic screening of ENMs. 相似文献
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Iria Montero Prez Laura Rodríguez‐Pazos Adriana lvarez‐Prez MªMercedes Pereiro Ferreirs Carlos Aliste Jose Manuel Suarez‐Pearanda Jaime Toribio 《Journal of cutaneous pathology》2015,42(11):889-893
Classical Kaposi sarcoma (KS) usually appears on lower extremities accompanied or preceded by local lymphedema. However, the development in areas of chronic lymphedema of the arms following mastectomy, mimicking a Stewart–Treves syndrome, has rarely been described. We report an 81‐year‐old woman who developed multiple, erythematous to purple tumors, located on areas of post mastectomy lymphedema. Histopathological examination evidenced several dermal nodules formed by spindle‐shaped cells that delimitated slit‐like vascular spaces with some red cell extravasation. Immunohistochemically, the human herpesvirus type 8 (HHV‐8) latent nuclear antigen‐1 was detected in the nuclei of most tumoral cells confirming the diagnosis of KS. Lymphedema could promote the development of certain tumors by altering immunocompetence. Although angiosarcoma (AS) is the most frequent neoplasia arising in the setting of chronic lymphedema, other tumors such as benign lymphangiomatous papules (BLAP) or KS can also develop in lymphedematous limbs. It is important to establish the difference between AS and KS because their prognosis and treatment are very different. Identification by immunohistochemistry of HHV‐8 is useful for the distinction between KS and AS or BLAP. 相似文献
9.
José Antonio Pereira Miguel Pera Manuel López-Cano Marta Pascual Sandra Alonso Silvia Salvans Marta Jiménez-Toscano Alba González-Martín Luis Grande-Posa 《Cirugía espa?ola》2019,97(1):20-26
Objectives
To determine the incidence of incisional hernia (IH) in the extraction incision (EI) in colorectal resection for cancer. To analyze whether the location of the incision has any relationship with the incidence of hernias and whether mesh could be useful for prevention in high-risk patients.Methods
Retrospective review of the colon and rectal surgery database from January 2015 to December 2016. Data were classified into 2 groups, transverse (TI) and midline incision (MI), and the latter was divided into 2 subgroups (mesh [MIM] and suture [MIS]). Patients were classified using the HERNIAscore. Hernias were diagnosed by clinical and/or CT examination.Results
A total of 182 out of 210 surgical patients were included. After a median follow-up of 13.0 months, 39 IH (21.9%) were detected, 23 of which (13.4%) were in the EI; their frequency was lower in the TI group (3.4%) and in the MIM group (5.9%) than in the MIS group (29.5%; p = 0.007). The probability of developing IH in the MIS group showed an OR = 11.7 (95%CI: 3.3-42.0) compared to the TI group and 4.3 (IC 95%: 1.1-16.3) versus the MIM group.Conclusions
The location of the incision is relevant to avoid incisional hernias. Transverse incisions should be used as the first option. When a midline incision is needed, a prophylactic mesh could be considered in high risk patients because it is safe and associated with low morbidity. 相似文献10.