scholarly journals Increased Risk of Multiple Outpatient Surgeries in African-American Carriers of Transthyretin Val122Ile Mutation Is Modulated by Non-Coding Variants

2019 ◽  
Vol 8 (2) ◽  
pp. 269 ◽  
Author(s):  
Renato Polimanti ◽  
Yaira Nuñez ◽  
Joel Gelernter

Background: African-Americans (AAs) have a 3.5% carrier prevalence of Transthyretin (TTR) Val122Ile mutation (rs76992529), which is the genetic cause of a hereditary form of amyloidosis. Methods: We investigated the medical history of Val122Ile carriers and assessed the role of a non-coding variation in 4361 unrelated AAs. Results: We observed that the Ile122 allele was associated with a 6.8-fold increase in the odds of having 10 or more outpatient surgeries (p = 7.81 × 10−5). Stratifying the analysis by sex, the Ile122 allele was associated with a 15.2-fold increase in the odds of having 10 or more outpatient surgeries in men (p = 6.49 × 10−7). A similar sex difference was observed with respect to the association of Val122Ile with musculoskeletal and connective-tissue disorders in an independent cohort of British subjects (n = 361,194, p = 2.47 × 10−13; nmale = 167,020, pmale = 4.02 × 10−24). In Val122Ile African-American carriers, we observed that haplotypes in the upstream region regulating TTR hepatic expression are associated with having 10 or more outpatient surgeries (p = 2.56 × 10−9). Conclusions: TTR Val122Ile showed a large effect with respect to an extreme phenotype identified in medical history that may be related to osteoarthritis, an early sign of the disease. Additionally, the non-coding variation appears to accelerate the negative consequences associated with Val122Ile mutation via TTR expression regulation.

Diabetes ◽  
2018 ◽  
Vol 67 (Supplement 1) ◽  
pp. 2406-PUB
Author(s):  
KONSTANTINA KANELLOPOULOU ◽  
IOANNIS L. MATSOUKIS ◽  
ASIMINA GANOTOPOULOU ◽  
THEODORA ATHANASOPOULOU ◽  
CHRYSOULA TRIANTAFILLOPOULOU ◽  
...  

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Vanni Valeria Stella ◽  
Villanacci Roberta ◽  
Salmeri Noemi ◽  
Papaleo Enrico ◽  
Delprato Diana ◽  
...  

AbstractPathogenesis of endometriosis is still unclear and a role of both innate and adaptive immune system has been postulated. Some recent findings have revealed an increased risk to have concomitant autoimmune disease in women with endometriosis, but no study so far has investigated whether this association could affect endometriosis severity and stage. We retrospectively reviewed medical patients’ notes of women with a confirmed diagnosis of endometriosis who referred to our endometriosis outpatient clinic between January 2015 and December 2019. Cases (endometriosis and an autoimmune disease) were matched in a 1:3 ratio by age and study period with controls (endometriosis without history of autoimmunity). At univariate logistic analysis, concomitant autoimmunity (OR 2.63, 95% CI 1.64–4.21, p < 0.001) and the number of laparoscopic procedures performed (OR 2.81, 95% CI 1.45–5.43, p = 0.002) emerged as factors significantly associated with the likelihood of stage IV endometriosis. In the multivariate logistic regression model, concomitant autoimmunity remained a significant predictor of stage IV endometriosis (OR 2.54, 95% CI 1.57–4.10, p = 0.004), whereas the association between the number of laparoscopic procedures performed and stage IV endometriosis was found to be of borderline-significance (OR 2.70, 95% 1.37–5.30, p = 0.050). Our findings suggest that endometriosis is more severe in patients who are also affected by autoimmune disturbances after controlling for relevant confounders.


Author(s):  
Annamaria Biczok ◽  
Philipp Karschnia ◽  
Raffaela Vitalini ◽  
Markus Lenski ◽  
Tobias Greve ◽  
...  

Abstract Background Prognostic markers for meningioma recurrence are needed to guide patient management. Apart from rare hereditary syndromes, the impact of a previous unrelated tumor disease on meningioma recurrence has not been described before. Methods We retrospectively searched our database for patients with meningioma WHO grade I and complete resection provided between 2002 and 2016. Demographical, clinical, pathological, and outcome data were recorded. The following covariates were included in the statistical model: age, sex, clinical history of unrelated tumor disease, and localization (skull base vs. convexity). Particular interest was paid to the patients’ past medical history. The study endpoint was date of tumor recurrence on imaging. Prognostic factors were obtained from multivariate proportional hazards models. Results Out of 976 meningioma patients diagnosed with a meningioma WHO grade I, 416 patients fulfilled our inclusion criteria. We encountered 305 women and 111 men with a median age of 57 years (range: 21–89 years). Forty-six patients suffered from a tumor other than meningioma, and no TERT mutation was detected in these patients. There were no differences between patients with and without a positive oncological history in terms of age, tumor localization, or mitotic cell count. Clinical history of prior tumors other than meningioma showed the strongest association with meningioma recurrence (p = 0.004, HR = 3.113, CI = 1.431–6.771) both on uni- and multivariate analysis. Conclusion Past medical history of tumors other than meningioma might be associated with an increased risk of meningioma recurrence. A detailed pre-surgical history might help to identify patients at risk for early recurrence.


2014 ◽  
Vol 2014 ◽  
pp. 1-9 ◽  
Author(s):  
Victoria Hale ◽  
Maren Weischer ◽  
Jong Y. Park

Although the causes of prostate cancer are largely unknown, previous studies support the role of genetic factors in the development of prostate cancer.CHEK2plays a critical role in DNA replication by responding to double-stranded breaks. In this review, we provide an overview of the current knowledge of the role of a genetic variant, 1100delC, ofCHEK2on prostate cancer risk and discuss the implication for potential translation of this knowledge into clinical practice. Currently, twelve articles that discussedCHEK2∗1100delC and its association with prostate cancer were identified. Of the twelve prostate cancer studies, five studies had independent data to draw conclusive evidence from. The pooled results of OR and 95% CI were 1.98 (1.23–3.18) for unselected cases and 3.39 (1.78–6.47) for familial cases, indicating thatCHEK2∗1100delC mutation is associated with increased risk of prostate cancer. Screening for CHEK2∗1100delC should be considered in men with a familial history of prostate cancer.


Author(s):  
Marta Bodecka-Zych ◽  
Anna Zajenkowska ◽  
Mary Bower Russa

Little research has explored the role of aggression, anger, and family history of incarceration as they relate to female offenders. The current study aimed to address this gap in the literature by investigating these possible risk factors for incarceration among both men and women. The survey involved 123 (61 female and 62 male) prisoners convicted for violent crimes and a comparison group of 118 (60 female and 58 male) adults from the community. We found that women (convicted and non-convicted) were more sensitive to provocation than men, while community adults showed higher levels of trait anger than prisoners. Detainees were more likely than community adults to have a relative in prison. Although male and female inmates were equally likely to have a relative in prison, they differed in their relation to the imprisoned relative. Male and female prisoners showed increased risk for incarceration of same sex, first degree relatives (father and brothers for men, and mothers for women). These results may contribute to improved understanding of incarcerated populations. As such, this represents a critical first step in creating recovery programs that are more gender appropriate.


2016 ◽  
Vol 4 (2) ◽  
pp. 142-164 ◽  
Author(s):  
Peter K. Smith

Following some background studies on the nature of school bullying, its prevalence, and the negative consequences it can have, this article reviews the history of anti-bullying interventions over the last 30 years. It considers several major programmes in detail, such as the Olweus Bullying Prevention Program, KiVa, Steps to Respect, and Friendly Schools. The nature and evaluation of the interventions is discussed, followed by a review of meta-analyses of the programmes effectiveness. Issues considered are the effect at different ages; components of interventions; work with peers; disciplinary methods, non-punitive and restorative approaches; challenges regarding cyberbullying; the role of parents; the role of teachers and teacher training; set menu versus à la carte approaches; sustainability of interventions and societal context. Conclusions show that interventions have had some success, with traditional bullying. However, further progress is needed in strengthening theoretical underpinnings to interventions, and in tackling cyberbullying.


2018 ◽  
Vol 6 (4) ◽  
pp. 98 ◽  
Author(s):  
Fatemeh Karami ◽  
Maliheh Askari ◽  
Mohammad Modarressi

Thrombophilia gene variants have been shown to be associated with higher risk of recurrent pregnancy loss (RPL). Due to the role of human platelets antigen 1 (HPA-1) and fibrinogen β chain (FGB) as critical players in the coagulation process, their most important variants including rs5918 T > C and rs1800790 G > A were selected to be studied in women affected by RPL. Three milliliters of peripheral blood were drawn from 110 women with history of at least two consecutive spontaneous abortion and 110 healthy women controls. rs5918 T > C and rs1800790 G > A of HPA-1 and FGB genes, respectively, were selected to be analyzed through polymerase chain reaction-restriction fragment length polymorphism (PCR_RFLP) following DNA isolation using QIAamp DNA Blood Mini Kit. Heterozygote genotype (TC) of HPA-1 gene rs5918 polymorphism was significantly associated with risk of RPL (p-value = 0.02). Although, rs1800790 G > A of FGB gene was not associated with RPL, its combination with rs5918 polymorphism was associated with increased risk of RPL. Owing to the critical roles of FGB and HPA-1 genes in coagulation, and thrombosis and several confinements on the meaningful association between the combination of those polymorphism with risk of RPL, including them in the thrombophilia panel may increase detection rate of hereditary thrombophilia patients. However, further studies with larger sample sizes are required to shed light on the exact role of the studied gene polymorphism, especially rs1800790 G > A of FGB gene variant in pathogenesis of RPL.


2021 ◽  
pp. 71-108
Author(s):  
Marilisa Jiménez García

This chapter centers on the education and role of “ethnic” librarians during the founding and professionalization of children’s literature and librarianship at the New York Public Library, tracing a legacy back to Afro-Boricua public pedagogies in Puerto Rico. This chapter also analyzes the centrality of Blackness and activism project of Latinx children’s literature as a US tradition grounded in the work of librarians of color, interweaving the stories of Pura Belpré and Arturo Schomburg, both key figures in the Harlem Renaissance and history of African American and AfroLatinx literature.


2019 ◽  
Vol 50 (11) ◽  
pp. 1862-1871 ◽  
Author(s):  
E. Appiah-Kusi ◽  
R. Wilson ◽  
M. Colizzi ◽  
E. Foglia ◽  
E. Klamerus ◽  
...  

AbstractBackgroundEvidence has been accumulating regarding alterations in components of the endocannabinoid system in patients with psychosis. Of all the putative risk factors associated with psychosis, being at clinical high-risk for psychosis (CHR) has the strongest association with the onset of psychosis, and exposure to childhood trauma has been linked to an increased risk of development of psychotic disorder. We aimed to investigate whether being at-risk for psychosis and exposure to childhood trauma were associated with altered endocannabinoid levels.MethodWe compared 33 CHR participants with 58 healthy controls (HC) and collected information about previous exposure to childhood trauma as well as plasma samples to analyse endocannabinoid levels.ResultsIndividuals with both CHR and experience of childhood trauma had higher N-palmitoylethanolamine (p < 0.001) and anandamide (p < 0.001) levels in peripheral blood compared to HC and those with no childhood trauma. There was also a significant correlation between N-palmitoylethanolamine levels and symptoms as well as childhood trauma.ConclusionsOur results suggest an association between CHR and/or childhood maltreatment and elevated endocannabinoid levels in peripheral blood, with a greater alteration in those with both CHR status and history of childhood maltreatment compared to those with either of those risks alone. Furthermore, endocannabinoid levels increased linearly with the number of risk factors and elevated endocannabinoid levels correlated with the severity of CHR symptoms and extent of childhood maltreatment. Further studies in larger cohorts, employing longitudinal designs are needed to confirm these findings and delineate the precise role of endocannabinoid alterations in the pathophysiology of psychosis.


Sign in / Sign up

Export Citation Format

Share Document