Allelic Lineages of the Ficolin Genes (FCNs) Are Passed from Ancestral to Descendant Primates

The ficolins recognize carbohydrates and acetylated compounds on microorganisms and dying host cells and are able to activate the lectin pathway of the complement system. In humans, three ficolin genes have been identified: FCN1, FCN2 and FCN3, which encode ficolin-1, ficolin-2 and ficolin-3, respectively. Rodents have only two ficolins designated ficolin-A and ficolin-B that are closely related to human ficolin-1, while the rodent FCN3 orthologue is a pseudogene. Ficolin-2 and ficolin-3 have so far only been observed in humans. Thus, we performed a systematic investigation of the FCN genes in non-human primates. The exons and intron-exon boundaries of the FCN1-3 genes were sequenced in the following primate species: chimpanzee, gorilla, orangutan, rhesus macaque, cynomolgus macaque, baboon and common marmoset. We found that the exon organisation of the FCN genes was very similar between all the non-human primates and the human FCN genes. Several variations in the FCN genes were found in more than one primate specie suggesting that they were carried from one species to another including humans. The amino acid diversity of the ficolins among human and non-human primate species was estimated by calculating the Shannon entropy revealing that all three proteins are generally highly conserved. Ficolin-1 and ficolin-2 showed the highest diversity, whereas ficolin-3 was more conserved. Ficolin-2 and ficolin-3 were present in non-human primate sera with the same characteristic oligomeric structures as seen in human serum. Taken together all the FCN genes show the same characteristics in lower and higher primates. The existence of trans-species polymorphisms suggests that different FCN allelic lineages may be passed from ancestral to descendant species

Recommendations for the surgical treatment of endometriosis—part 1: ovarian endometrioma

Study question: What does this document on the surgical treatment of endometriosis jointly prepared by the European Society for Gynaecological Endoscopy (ESGE), ESHRE, and the World Endometriosis Society (WES) provide? / Summary answer: This document provides recommendations covering technical aspects of different methods of surgery for endometriomas in women of reproductive age. / What is already known: Endometriomas (ovarian endometriotic cysts) are a commonly diagnosed form of endometriosis, owing to the relative ease and accuracy of ultrasound diagnosis. They frequently present a clinical dilemma as to whether and how to treat them when found during imaging or incidentally during surgery. Previously published guidelines have provided recommendations based on the best available evidence, but without technical details on the management of endometriosis. / Study design, size and duration: A working group of ESGE, ESHRE and WES collaborated on writing recommendations on the practical aspects of endometrioma surgery. / Participants/materials, setting and methods: This document focused on endometrioma surgery. Further documents in this series will provide recommendations for surgery of deep and peritoneal endometriosis. / Main results and the role of chance: The document presents general recommendations for surgery of endometrioma and specific recommendations for cystectomy, ablation by laser or by plasma energy, electrocoagulation and a combination of these techniques applied together or with an interval between them. / Limitations and reasons for caution: Owing to the limited evidence available, recommendations are mostly based on clinical expertise. / Wider implications of the findings: These recommendations complement previous guidelines on the management of endometriosis. / Study funding/competing interests: The meetings of the working group were funded by ESGE, ESHRE and WES. CB declares to be a member of the independent data monitoring committee for a clinical study by ObsEva and receiving research grants from Bayer, Roche Diagnostics, MDNA Life Sciences and Volition. ES received honoraria for provision of training to healthcare professionals from Ethicon, Olympus and Gedeon Richter. The other authors declare that they have no conflict of interest

Ficolin-2 Levels and FCN2 Haplotypes Influence Hepatitis B Infection Outcome in Vietnamese Patients

Human Ficolin-2 (L-ficolins) encoded by FCN2 gene is a soluble serum protein that plays an important role in innate immunity and is mainly expressed in the liver. Ficolin-2 serum levels and FCN2 single nucleotide polymorphisms were associated to several infectious diseases. We initially screened the complete FCN2 gene in 48 healthy individuals of Vietnamese ethnicity. We genotyped a Vietnamese cohort comprising of 423 clinically classified hepatitis B virus patients and 303 controls for functional single nucleotide polymorphisms in the promoter region (-986G>A, -602G>A, -4A>G) and in exon 8 (+6424G>T) by real-time PCR and investigated the contribution of FCN2 genotypes and haplotypes to serum Ficolin-2 levels, viral load and liver enzyme levels. Haplotypes differed significantly between patients and controls (P = 0.002) and the haplotype AGGG was found frequently in controls in comparison to patients with hepatitis B virus and hepatocellular carcinoma (P = 0.0002 and P<0.0001) conferring a protective effect. Ficolin-2 levels differed significantly between patients and controls (p<0.0001). Patients with acute hepatitis B had higher serum Ficolin-2 levels compared to other patient groups and controls.The viral load was observed to be significantly distributed among the haplotypes (P = 0.04) and the AAAG haplotype contributed to higher Ficolin-2 levels and to viral load. Four novel single nucleotide polymorphisms in introns (-941G>T, -310G>A, +2363G>A, +4882G>A) and one synonymous mutation in exon 8 (+6485G>T) was observed. Strong linkage was found between the variant -986G>A and -4A>G. The very first study on Vietnamese cohort associates both Ficolin-2 serum levels and FCN2 haplotypes to hepatitis B virus infection and subsequent disease progression

Recommendations for the surgical treatment of endometriosis. Part 2: deep endometriosis

Study question: How should surgery for endometriosis be performed? / Summary answer: This document provides recommendations covering technical aspects of different methods of surgery for deep endometriosis in women of reproductive age. / What is known already: Endometriosis is highly prevalent and often associated with severe symptoms. Yet compared to equally prevalent conditions it is poorly understood and a challenge to manage. Previously published guidelines have provided recommendations for (surgical) treatment of deep endometriosis, based on the best available evidence, but without technical information and details on how to best perform such treatment in order to be effective and safe. / Study, design, size, duration: A working group of the European Society for Gynaecological Endoscopy (ESGE), European Society of Human Reproduction and Embryology (ESHRE) and the World Endometriosis Society (WES) collaborated on writing recommendations on the practical aspects of surgery for treatment of deep endometriosis. / Participants, materials, setting, methods: This document focused on surgery for deep endometriosis, and is complementary to a previous document in this series focusing on endometrioma surgery. / Main results and the role of chance: The document presents general recommendations for surgery for deep endometriosis, starting from preoperative assessments and first steps of surgery. Different approaches for surgical treatment are discussed and are respective of location and extent of disease; uterosacral ligaments and rectovaginal septum with or without involvement of the rectum, urinary tract or extrapelvic endometriosis. In addition, recommendations are provided on the treatment of frozen pelvis and on hysterectomy as a treatment for deep endometriosis. / Limitations, reasons for caution: Owing to the limited evidence available, recommendations are mostly based on clinical expertise. Where available, references of relevant studies were added. / Wider implications of the findings: These recommendations complement previous guidelines on management of endometriosis and the recommendations for surgical treatment of ovarian endometrioma. / Study funding - Competing interest(s): The meetings of the working group were funded by ESGE, ESHRE and WES

Research Priorities for Endometriosis:Recommendations From a Global Consortium of Investigators in Endometriosis

The 3rd International Consensus Workshop on Research Priorities in Endometriosis was held in São Paulo on May 4, 2014, following the 12th World Congress on Endometriosis. The workshop was attended by 60 participants from 19 countries and was divided into 5 main sessions covering pathogenesis/pathophysiology, symptoms, diagnosis/classification/prognosis, disease/symptom management, and research policy. This research priorities consensus statement builds on earlier efforts to develop research directions for endometriosis. Of the 56 research recommendations from the 2011 meeting in Montpellier, a total of 41 remained unchanged, 13 were updated, and 2 were deemed to be completed. Fifty-three new research recommendations were made at the 2014 meeting in Sao Paulo, which in addition to the 13 updated recommendations resulted in a total of 66 new recommendations for research. The research recommendations published herein, as well as those from the 2 previous papers from international consensus workshops, are an attempt to promote high-quality research in endometriosis by identifying and agreeing on key issues that require investigation. New areas included in the 2014 recommendations include infertility, patient stratification, and research in emerging nations, in addition to an increased focus on translational research. A revised and updated set of research priorities that builds on this document will be developed at the 13th World Congress on Endometriosis to be held on May 17-20, 2017, in Vancouver, British Columbia, Canada.Peter A. W. Rogers, G. David Adamson, Moamar Al-Jefout, Christian M. Becker, Thomas M. D, Hooghe, Gerard A. J. Dunselman, Asgerally Fazleabas, Linda C. Giudice, Andrew W. Horne, M. Louise Hull, Lone Hummelshoj, Stacey A. Missmer, Grant W. Montgomery, Pamela Stratton, Robert N. Taylor, Luk Rombauts, Philippa T. Saunders, Katy Vincent, Krina T. Zondervan for the WES/WERF Consortium for Research Priorities in Endometriosi

IL13 genetic polymorphisms, smoking, and eczema in women: a case-control study in Japan

Background: Several genetic association studies have examined the relationships between single nucleotidepolymorphisms (SNPs) in the IL13 gene and eczema, and have provided contradictory results. We investigated therelationship between the IL13 SNPs rs1800925 and rs20541 and the risk of eczema in Japanese young adultwomen.Methods: Included were 188 cases who met the criteria of the International Study of Asthma and Allergies inChildhood (ISAAC) for eczema. Control subjects were 1,082 women without eczema according to the ISAACcriteria, who had not been diagnosed with atopic eczema by a doctor and who had no current asthma as definedby the European Community Respiratory Health Survey criteria. Adjustment was made for age, region of residence,number of children, smoking, and education.Results: The minor TT genotype of SNP rs1800925 was significantly associated with an increased risk of eczema inthe co-dominant model: the adjusted odds ratio was 2.19 (95% confidence interval: 1.03-4.67). SNP rs20541 was notrelated to eczema. None of the haplotypes were significantly associated with eczema. Compared with women withthe CC or CT genotype of SNP rs1800925 who had never smoked, those with the TT genotype who had eversmoked had a 2.85-fold increased risk of eczema, though the adjusted odds ratio was not statistically significant,and neither multiplicative nor additive interaction was statistically significant.Conclusions: Our findings suggest that the IL13 SNP rs1800925 is significantly associated with eczema in Japaneseyoung adult women. We could not find evidence for an interaction between SNP rs1800925 and smoking withregard to eczema

Unraveling the Genetic Basis of Asthma and Allergic Diseases

Asthma and allergic diseases are believed to be complex genetic diseases which may result from the interaction of multiple genetic factors and environmental stimuli. In past decades, great efforts have been exerted in unraveling their genetic basis. The strategies in discovering genes and genetic variants, confirming their importance in pathogenesis of asthma and allergic diseases, as well as their strengths and limitations are summarized comprehensively and concisely. The current consensus about the genetic basis of asthma and allergic diseases is briefly described as well

Validation of the SF-36 in patients with endometriosis.

OBJECTIVES: Endometriosis presents with significant pain as the most common symptom. Generic health measures can allow comparisons across diseases or populations. However, the Medical Outcomes Study Short Form 36 (SF-36) has not been validated for this disease. The goal of this study was to validate the SF-36 (version 2) for endometriosis. METHODS: Using data from two clinical trials (N = 252 and 198) of treatment for endometriosis, a full complement of psychometric analyses was performed. Additional instruments included a pain visual analog scale (VAS); a physician-completed questionnaire based on patient interview (modified Biberoglu and Behrman--B&B); clinical global impression of change (CGI-C); and patient satisfaction with treatment. RESULTS: Bodily pain (BP) and the Physical Component Summary Score (PCS) were correlated with the pain VAS at baseline and over time and the B&B at baseline and end of study. In addition, those who had the greatest change in BP and PCS also reported the greatest change on CGI-C and patient satisfaction with treatment. Other subscales showed smaller, but significant, correlations with change in the pain VAS, CGI-C, and patient satisfaction with treatment. CONCLUSIONS: The SF-36--particularly BP and the PCS--appears to be a valid and responsive measure for endometriosis and its treatment