Neuroendocrine-immune disequilibrium and endometriosis: an interdisciplinary approach.
Ontology highlight
ABSTRACT:
SUBMITTER: Tariverdian N
PROVIDER: S-EPMC2668599 | biostudies-other | 2007 Jun
REPOSITORIES: biostudies-other
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Project description:BackgroundThe trans-Atlantic slave trade dramatically changed the demographic makeup of the New World, with varying regions of the African coast exploited differently over roughly a 400 year period. When compared to the discrete mitochondrial haplotype distribution of historically appropriate source populations, the unique distribution within a specific source population can prove insightful in estimating the contribution of each population. Here, we analyzed the first hypervariable region of mitochondrial DNA in a sample from the Caribbean island of Jamaica and compared it to aggregated populations in Africa divided according to historiographically defined segments of the continent's coastline. The results from these admixture procedures were then compared to the wealth of historic knowledge surrounding the disembarkation of Africans on the island.ResultsIn line with previous findings, the matriline of Jamaica is almost entirely of West African descent. Results from the admixture analyses suggest modern Jamaicans share a closer affinity with groups from the Gold Coast and Bight of Benin despite high mortality, low fecundity, and waning regional importation. The slaves from the Bight of Biafra and West-central Africa were imported in great numbers; however, the results suggest a deficit in expected maternal contribution from those regions.ConclusionsWhen considering the demographic pressures imposed by chattel slavery on Jamaica during the slave era, the results seem incongruous. Ethnolinguistic and ethnographic evidence, however, may explain the apparent non-random levels of genetic perseverance. The application of genetics may prove useful in answering difficult demographic questions left by historically voiceless groups.
| S-EPMC3299582 | biostudies-literature
Project description:An interdisciplinary research perspective is developed concerning the question of how we understand others' emotions and how reliable our judgment about others' emotion can be. After an outline of the theoretical background of emotions, we briefly discuss the importance of prior experiences and context information for the recognition of emotions. To clarify this role, we describe a study design, utilizing emotional expressions and context information while controlling for prior experiences and the actual emotional situation to systematically approach these questions.
| S-EPMC6135884 | biostudies-other
Project description:BackgroundWithin the Dutch Child Health Care (CHC), an online tool (360° CHILD-profile) is designed to enhance prevention and transformation toward personalized health care. From a personalized preventive perspective, it is of fundamental importance to timely identify children with emerging health problems interrelated to multiple health determinants. While digitalization of children's health data is now realized, the accessibility of data remains a major challenge for CHC professionals, let alone for parents/youth. Therefore, the idea was initiated from CHC practice to develop a novel approach to make relevant information accessible at a glance.ObjectiveThis paper describes the stepwise development of a dashboard, as an example of using a design model to achieve visualization of a comprehensive overview of theoretically structured health data.MethodsDevelopmental process is based on the nested design model with involvement of relevant stakeholders in a real-life context. This model considers immediate upstream validation within 4 cascading design levels: Domain Problem and Data Characterization, Operation and Data Type Abstraction, Visual Encoding and Interaction Design, and Algorithm Design. This model also includes impact-oriented downstream validation, which can be initiated after delivering the prototype.ResultsA comprehensible 360° CHILD-profile is developed: an online accessible visualization of CHC data based on the theoretical concept of the International Classification of Functioning, Disability and Health. This dashboard provides caregivers and parents/youth with a holistic view on children's health and "entry points" for preventive, individualized health plans.ConclusionsDescribing this developmental process offers guidance on how to utilize the nested design model within a health care context.
| S-EPMC7902185 | biostudies-literature
Project description:The prenatal and perinatal environments can have profound effects on the development of chronic inflammatory diseases. However, mechanistic insight into how the early-life microenvironment can impact upon development of the lung and immune system and consequent initiation and progression of respiratory diseases is still emerging. Recent studies investigating the developmental origins of lung diseases have started to delineate the effects of early-life changes in the lung, environmental exposures and immune maturation on the development of childhood and adult lung diseases. While the influencing factors have been described and studied in mostly animal models, it remains challenging to pinpoint exactly which factors and at which time point are detrimental in lung development leading to respiratory disease later in life. To advance our understanding of early origins of chronic lung disease and to allow for proper dissemination and application of this knowledge, we propose four major focus areas: 1) policy and education; 2) clinical assessment; 3) basic and translational research; and 4) infrastructure and tools, and discuss future directions for advancement. This review is a follow-up of the discussions at the European Respiratory Society Research Seminar "Early origins of lung disease: towards an interdisciplinary approach" (Lisbon, Portugal, November 2019).
| S-EPMC9488517 | biostudies-literature
Project description:Bone marrow edema (BME) is a descriptive term for a common finding in magnetic resonance imaging (MRI). Although pain is the major symptom, BME differs in terms of its causal mechanisms, underlying disease, as well as treatment and prognosis. This complexity together with the lack of evidence-based guidelines, frequently makes the identification of underlying conditions and its management a major challenge. Unnecessary multiple consultations and delays in diagnosis as well as therapy indicate a need for interdisciplinary clinical recommendations. Therefore, an interdisciplinary task force was set up within our large osteology center consisting of specialists from internal medicine, endocrinology/diabetology, hematology/oncology, orthopedics, pediatrics, physical medicine, radiology, rheumatology, and trauma surgery to develop a consenus paper. After review of literature, review of practical experiences (expert opinion), and determination of consensus findings, an overview and an algorithm were developed with concise summaries of relevant aspects of the respective underlying disease including diagnostic measures, clinical features, differential diagnosis and treatment of BME. Together, our single-center consensus review on the management of BME may help improve the quality of care for these patients.
| S-EPMC7074543 | biostudies-literature
Project description:Mechanisms of immune dysregulation against established tumors are relatively well understood. Much less is known about the role of immune effectors against cancer precursor lesions. Endometrioid and clear cell ovarian tumors may partly derive from endometriosis, a commonly diagnosed chronic inflammatory disease. We performed here the most comprehensive immune gene expression analysis of pelvic inflammation in endometriosis and endometriosis-associated ovarian cancer (EAOC). RNA was extracted from 120 paraffin tissue blocks comprising of normal endometrium (n=32), benign endometriosis (n=30), atypical endometriosis (n=15) and EAOC (n=43). Serous tumors (n=15) were included as non-endometriosis associated controls. The immune microenvironment was profiled using Nanostring and the nCounter® GX Human Immunology Kit, comprising probes for a total of 511 immune genes. Please note that 3 normal endometrium samples did not pass the array quality filtering and therefore excluded in the data analyses.
2015-01-07 | E-GEOD-57545 | biostudies-arrayexpress
Project description:Quantitative trait loci (QTL) affecting the phenotype of interest can be detected using linkage analysis (LA), linkage disequilibrium (LD) mapping or a combination of both (LDLA). The LA approach uses information from recombination events within the observed pedigree and LD mapping from the historical recombinations within the unobserved pedigree. We propose the Bayesian variable selection approach for combined LDLA analysis for single-nucleotide polymorphism (SNP) data. The novel approach uses both sources of information simultaneously as is commonly done in plant and animal genetics, but it makes fewer assumptions about population demography than previous LDLA methods. This differs from approaches in human genetics, where LDLA methods use LA information conditional on LD information or the other way round. We argue that the multilocus LDLA model is more powerful for the detection of phenotype-genotype associations than single-locus LDLA analysis. To illustrate the performance of the Bayesian multilocus LDLA method, we analyzed simulation replicates based on real SNP genotype data from small three-generational CEPH families and compared the results with commonly used quantitative transmission disequilibrium test (QTDT). This paper is intended to be conceptual in the sense that it is not meant to be a practical method for analyzing high-density SNP data, which is more common. Our aim was to test whether this approach can function in principle.
| S-EPMC3931163 | biostudies-literature
Project description:Primary ovarian neuroendocrine neoplasms (Ov-NENs) are infrequent and mainly represented by well-differentiated forms (neuroendocrine tumors - NETs - or carcinoids). Poorly differentiated neuroendocrine carcinomas (Ov-NECs) are exceedingly rare and only few cases have been reported in the literature. A subset of Ov-NECs are admixed with non-neuroendocrine carcinomas, as it occurs in other female genital organs, as well (mostly endometrium and uterine cervix), and may be assimilated to mixed neuroendocrine/non-neuroendocrine neoplasms (MiNENs) described in digestive and extra-digestive sites. Here, we present a case of large cell Ov-NEC admixed with an endometrioid carcinoma of the ovary, arising in the context of ovarian endometriosis, associated with a uterine endometrial atypical hyperplasia (EAH). We performed targeted next-generation sequencing analysis, along with a comprehensive immunohistochemical study and FISH analysis for TP53 locus, separately on the four morphologically distinct lesions (Ov-NEC, endometrioid carcinoma, endometriosis, and EAH). The results of our study identified molecular alterations of cancer-related genes (PIK3CA, CTNNB1, TP53, RB1, ARID1A, and p16), which were present with an increasing gradient from preneoplastic lesions to malignant proliferations, both neuroendocrine and non-neuroendocrine components. In conclusion, our findings underscored that the two neoplastic components of this Ov-MiNEN share a substantially identical molecular profile and they progress from a preexisting ovarian endometriotic lesion, in a patient with a coexisting preneoplastic proliferation of the endometrium, genotypically and phenotypically related to the ovarian neoplasm. Moreover, this study supports the inclusion of MiNEN in the spectrum ovarian and, possibly, of all gynecological NENs, among which they are currently not classified.
| S-EPMC9420090 | biostudies-literature
Project description:To determine if the molecular profiles of endometriotic lesions contain informative measures of inflammation and immune dysfunction that may contribute to better understanding of the interplay between immune dysfunction and inflammation and their contribution to endometriosis pathogenesis.Immune and inflammation transcriptomic analysis with the use of the Nanostring nCounter GX Human Immunology V2 platform (579 human immune and inflammation-related genes and 15 housekeeping genes).Academic university and teaching hospital.None.Stage III-IV endometriosis patients with infertility (n = 8) and fertile disease-free control women undergoing tubal ligation (n = 8). Menstrual stage was matched to secretory phase in all participants.Immune and inflammation transcriptomics quantification from ectopic endometriotic lesions and matched eutopic endometrium from patients. Endometria of fertile women served as control subjects.Our results displayed endometriotic lesions as molecularly distinct entities compared with eutopic endometrium and endometrium of control samples; 396 out of 579 screened immune and inflammation-related genes were significantly different in ectopic tissues compared with control endometrium. Most importantly, eutopic endometrium of the patients displayed a unique molecular profile compared with the control endometrium (91/579 genes were significantly different), particularly of genes involved in regulation of cell apoptosis and decidualization.We characterize differential expression of immune-inflammation genes in endometriosis patients, and show molecular distinction of eutopic endometrium of patients compared with control fertile women.
| S-EPMC5683404 | biostudies-literature
Project description:Endometriosis is a public health disorder affecting ∼ 247 million women globally and ∼ 42 million women in India. Women with endometriosis suffer from dysmenorrhea, chronic pelvic pain, dyspareunia, dyschezia, fatigue, depression, and infertility leading to significant socioeconomic impact and morbidity. The etiology of endometriosis is not understood well even after 100 years of research. Currently, there is no permanent cure for endometriosis. The inflammatory immune response is one of the important features of etiopathogenesis of endometriosis and therefore understanding the inflammatory immune response would lead to a better understanding of this enigmatic disorder and may also lead to biomarker discovery for diagnosis of endometriosis. We investigated the autoimmune etiology of endometriosis in the Indian population. Using the proteomics approach, anti-endometrial antibodies (AEAs) were detected in Indian women with endometriosis [anti-endometrial antibodies - tropomyosin 3 (TPM3), stomatin-like protein2 (SLP-2), and tropomodulin 3 (TMOD3)]. The studies on AEAs provided a better understanding of autoimmune mechanisms in endometriosis. All three subtypes of endometriosis; superficial peritoneal, ovarian endometrioma, and deep infiltrating endometriosis were reported in Indian women. In this review, we discuss our experiences of the inflammatory immune response, autoimmunity, comorbidities, and clinical phenotypes in women with endometriosis in India.
| S-EPMC7615030 | biostudies-literature