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Rare bleeding disorders include inherited coagulation disorders except for von Willebrand disease and hemophilia A and B. These disorders affect both men and women worldwide and mainly have an autosomal recessive pattern of inheritance. Given the paucity of cases of rare bleeding disorders, there are limited data regarding some topics among bleeding disorders.

This retrospective study from 2005-2019 collected demographic data and the causes of death among cases with rare bleeding disorders from 2 provinces of Iran.

Overall, 5 deaths were reported, including 3 cases with factor V deficiency, a case with factor XIII deficiency, and a case with combined factor V and factor VIII deficiencies. learn more The main causes of death were bleeding in the central nervous system (2 cases; 1 with factor V deficiency and 1 with combined factor XIII deficiency). Post-partum hemorrhage was the cause of death in a woman with factor V deficiency while anaphylaxis shock was the cause of death in the case with combined factor V and factor VIII deficiencies. A woman with factor V deficiency died from an internal bleeding episode.

Gathering data on the causes of death in rare bleeding disorders through worldwide registries can be helpful for the management of this rare group of bleeding disorders.
Gathering data on the causes of death in rare bleeding disorders through worldwide registries can be helpful for the management of this rare group of bleeding disorders.This study examined the effect of foot orthoses used on ground reaction forces, ankle, and knee kinematics when running at preferred and nonpreferred speeds. Sixteen runners ran on instrumented treadmills at various speeds (90%, 100%, and 110% of preferred speed) when wearing arch-support and flat-control orthoses. Two-way repeated analysis of variance (ANOVA) was performed on the mean and coefficient of variation of all variables. Results indicated that arch-support orthoses experienced larger maximum loading rates than flat-control orthoses (P = .017, 95% CI, 2.22 to 19.53). Slower speed was related to smaller loading rates (preferred P = .002, 95% CI, -17.02 to -4.20; faster P = .003, 95% CI, -29.78 to -6.17), shorter stride length (preferred P less then .001, 95% CI, -0.204 to -0.090; faster P less then .001, 95% CI, -0.382 to -0.237), and longer contact time (preferred P less then .001, 95% CI, 0.006-0.021; faster 95% CI, 0.012-0.042). In arch-support condition, preferred speed induced higher stride length coefficient of variation (P = .046, 95% CI, 0.035-1.117) than faster speed, while displaying no differences in flat-control condition. These findings suggest that the use of arch-support orthoses would influence impact loading, but not spatial-temporal and joint kinematics in recreational runners.Alzheimer's disease (AD) is a neurodegenerative disorder characterized by the progressive decline of memory and cognitive function. The disease is characterized by the presence of amyloid plaques, tau tangles, altered inflammatory signaling, and alterations in numerous neurotransmitter signaling systems, including γ-aminobutyric acid (GABA). Given the extensive role of GABA in regulating neuronal activity, a careful investigation of GABA-related changes is needed. Further, given persistent inflammation has been demonstrated to drive AD pathology, the presence of GABA B receptor expressed on glia that serve a role regulation of the immune response adds to potential implications of altered GABA in AD. There has not previously been a systematic evaluation of GABA-related changes in an amyloid model of AD that specifically focuses on examining changes in GABA B receptors. In the present study, we examined alterations in several GABA-specific targets in the APP/PS1 mouse model at different ages. In the 4-month-old cohort, no significant deficits in spatial learning and memory or alterations in any of the GABAergic targets were observed compared with wild-type controls. However, we identified significant alterations in several GABA-related targets in the 6-month-old cohort that exhibited spatial learning deficits that include changes in glutamic acid decarboxylase 65, GABA transporter type 3, and GABA B receptors protein and mRNA levels. This was the same cohort at which learning and memory deficits and significant amyloid pathology was observed. Overall, our study provides evidence of altered GABAergic signaling in an amyloid model of AD at a time point consistent with AD-related deficits.Prior research has established that sexual minority (SM) individuals are more likely to experience disordered body image behaviors and concerns than heterosexual individuals. This increased risk may be explained by minority stress theory - that SM individuals are subject to SM-specific stressors, leading to health disparities - but this has not yet been fully examined. Furthermore, this theory states that SM community involvement may mitigate negative outcomes. The current study examines whether minority stress is associated with screening positive for an eating disorder, screening positive for body dysmorphic disorder, and appearance- and performance-enhancing drug misuse in a sample of SM individuals (483 women and 479 men) in the US. This study also examines whether the effect of minority stress is moderated by SM community involvement. Logistic regressions were conducted for each type of minority stress (internalized homophobia, sexual orientation concealment, and heterosexist discrimination) interacting with community involvement. After correction for multiple comparisons, all minority stressors and community involvement were positively associated with increased odds of disordered body image behaviors and concerns, with no evidence of a buffering effect for community involvement. The lack of a buffering effect is contrary to minority stress theory and may inform future prevention efforts.Healthy pancreatic β-cells adapt to systemic insulin resistance to maintain normal blood glucose levels, and a failure of this adaptation leads to type 2 diabetes in humans. While genome-wide association studies have uncovered genetic variants that are associated with type 2 diabetes, it is still insufficient to explain the high prevalence of this disease. Epigenetics is the study of gene expression changes that do not involve DNA sequence alterations such as DNA methylation, histone modification, and non-coding RNAs. Over the last decade, a large number of studies have reported on the role of epigenetics in β-cell biology. In this review, we summarize the epigenetic mechanisms in β-cell adaptation and type 2 diabetes, including alterations in three-dimensional chromatin structure and RNA modifications.
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