Advances in the genetics of endometriosis

Endometriosis is a gynecological disease characterized by implantation of endometrial tissue outside of the uterus. Early familial aggregation and twin studies noted a higher risk of endometriosis among relatives. Studies on the roles of the environment, genetics and aberrant regulation in the endometrium and endometriotic lesions of women with endometriosis suggest that endometriosis arises from the interplay between genetic variants and environmental factors. Elucidating the hereditary component has proven difficult because multiple genes seem to produce a susceptibility to developing endometriosis. Molecular techniques, including linkage and genome-wide analysis, have identified candidate genes located near known loci related to development and regulation of the female reproductive tract. As new candidate genes are discovered and hereditary pathways identified using technologies such as genome-wide analysis, the possibility of prevention and treatment becomes more tangible for millions of women affected by endometriosis. Here, we discuss the advances of genetic research in endometriosis and describe technologies that have contributed to the current understanding of the genetic variability in endometriosis, variability that includes regulatory polymorphisms in key genes

PPAR Action in Human Placental Development and Pregnancy and Its Complications

During pregnancy crucial anatomic, physiologic, and metabolic changes challenge the mother and the fetus. The placenta is a remarkable organ that allows the mother and the fetus to adapt to the new metabolic, immunologic, and angiogenic environment imposed by gestation. One of the physiologic systems that appears to have evolved to sustain this metabolic regulation is mediated by peroxisome proliferator-activated receptors (PPARs). In clinical pregnancy-specific disorders, including preeclampsia, gestational diabetes, and intrauterine growth restriction, aberrant regulation of components of the PPAR system parallels dysregulation of metabolism, inflammation and angiogenesis. This review summarizes current knowledge on the role of PPARs in regulating human trophoblast invasion, early placental development, and also in the physiology of clinical pregnancy and its complications. As increasingly indicated in the literature, pregnancy disorders, such as preeclampsia and gestational diabetes, represent potential targets for treatment with PPAR ligands. With the advent of more specific PPAR agonists that exhibit efficacy in ameliorating metabolic, inflammatory, and angiogenic disturbances, further studies of their application in pregnancy-related diseases are warranted

Treatment outcomes of patients with Cutibacterium acnes-positive cultures during total joint replacement revision surgery: a minimum 2-year follow-up

INTRODUCTION Periprosthetic joint infection (PJI) is a devastating complication following total joint replacement (TJR). Cutibacterium acnes (C. acnes) is a low virulent skin commensal, commonly found during TJR revision surgery for "aseptic" causes. The purpose of the present study was to report the treatment outcomes of patients with C. acnes contamination or infection in the presence of a TJR treated with a revision surgery ± implant exchange ± prolonged (≥ 8 weeks) postoperative antibiotics. METHODS Medical records of patients with at least one positive C. acnes culture in intraoperative tissue samples or sonication fluid from a TJR revision surgery between January 2005 and December 2014 were retrospectively evaluated. The primary endpoint was infection eradication according to Delphi criteria. The diagnostic accuracy of preoperative TJR aspiration regarding the diagnosis of C. acnes PJI was also investigated. RESULTS A total of 52 TJR (28 shoulders, 17 hips, 7 knees) in 52 patients (35 males, 17 females) with an average age of 63 ± 11 (33-86) years were included. At an average follow-up of 67 ± 33 (24-127) months, the infection eradication of C. acnes PJI was 97% regardless of the surgical treatment or administration of prolonged postoperative antibiotics. The incidence of unsuspected C. acnes PJI was 28.8%. The sensitivity and specificity of preoperative joint aspiration in detecting C. acnes PJI were 59% and 88%, whereas the PPV and NNV were 83% and 67%, respectively. CONCLUSION Infection eradication of C. acnes PJI was very high at a minimum follow-up of 24 months, suggesting that C. acnes PJI could be adequately treated with a combination of revision surgery and prolonged postoperative antibiotics. The preoperative diagnosis of C. acnes PJI might be challenging with more than one-quarter of patients presenting without suspicion of C. acnes PJI. The appropriate treatment of patients with a single positive culture remains still unclear. A negative TJR aspiration should not rule out a C. acnes PJI, especially in the presence of clinical correlates of infection. LEVEL OF EVIDENCE Retrospective case-control study, Level III. IRB APPROVAL Kantonale Ethikkommission Zürich, BASEC Nr.:2017-00567

Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney

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Kohlenwasserstoffverbrückte Metallkomplexe

Die Addition des in situ hergestellten Anions (OC)5W=C(NEt2)CH2CS2− und die metallorganischen Lewis-Säuren (OC) 5Re+ und Ph3PAu+ führt zu den ligandverbrückten Komplexen (OC)5W=C(NEt2)CH2C(S)S---Re(CO)5 (1) und (OC)5W=C(NEt2)CH2C-(S)S---AuPPh3 (2). Die Reaktion des Dianions (OC)5W=C(NEt2)CH22− mit MeI, Cl2M(PR3)2 (M = Pd, Pt) und (OC)5Re+ liefert die Komplexe (OC)4 Me)SMe (3), (OC)5W=C(NEt2)CH=CS2M(PR3)2 (4, 5) und (OC5W=C(NEt2)CH=CS2[Re (CO)5]2 (6). Das Anion (OC)5W=C(NEt2)CH2CS2− läßt sich an koordinierte Ethylen- und Allyl-Liganden in kationischen Komplexen unter Bildung der Kohlenwasserstoff-verbrückten Komplexe (OC)5W=C(NEt2)CH2C(S)SCH2CH2−W( CO)3Cp (7), (OC)5W=C(NEt2)CH2C(S)SCH2CH2−Re(CO)5 (8) und (OC5)W=C(NEt2)CH2C(S)SCH 2CH=CH2-η2-Mo(NO)(CO)Cp (9) addieren