Publications by authors named "HEISE E"

The pathophysiology of pulmonary hypertension (PH) is not fully understood. Here, we tested the hypothesis that hypoxic perfusion of the vasa vasorum of the pulmonary arterial (PA) wall causes PH. Young adult pig lungs were explanted and placed into a modified ex vivo lung perfusion unit (organ care system, OCS) allowing the separate adjustment of parameters for mechanical ventilation, as well as PA perfusion and bronchial arterial (BA) perfusion.

View Article and Find Full Text PDF

Brazil has experienced one of the highest COVID-19 fatality rates globally. While numerous studies have explored the potential connection between air pollution, specifically fine particulate matter (PM), and the exacerbation of SARS-CoV-2 infection, the majority of this research has been conducted in foreign regions-Europe, the United States, and China-correlating generalized pollution levels with health-related scopes. In this study, our objective is to investigate the localized connection between exposure to air pollution exposure and its health implications within a specific Brazilian municipality, focusing on COVID-19 susceptibility.

View Article and Find Full Text PDF
Article Synopsis
  • The study investigates protein-truncating variants (PTVs) that may bypass nonsense-mediated decay (NMD) in 29,031 neurodevelopmental disorder (NDD) parent-offspring trios, identifying significant de novo mutations (DNMs).
  • Researchers found 1,376 PTVs in 133 genes significantly associated with Mendelian diseases, including known disease genes like SEMA6B and PPM1D, and uncovered 22 additional genes with potential disease links.
  • The analysis highlights phenotypic similarities among individuals with PTVs in the same genes, suggesting novel disease associations in genes not previously linked to Mendelian conditions.
View Article and Find Full Text PDF

Introduction: Leprosy reactions (LR) are severe episodes of intense activation of the host inflammatory response of uncertain etiology, today the leading cause of permanent nerve damage in leprosy patients. Several genetic and non-genetic risk factors for LR have been described; however, there are limited attempts to combine this information to estimate the risk of a leprosy patient developing LR. Here we present an artificial intelligence (AI)-based system that can assess LR risk using clinical, demographic, and genetic data.

View Article and Find Full Text PDF

Pretransplant allosensitization to human leukocyte antigens (HLA) increases the recipient's waiting list time and mortality in lung transplantation. Rather than waiting for crossmatch-negative donors, since 2013, recipients with preformed donor-specific antiHLA antibodies (pfDSA) have been managed with repeated IgA- and IgM-enriched intravenous immunoglobulin (IgGAM) infusions, usually in combination with plasmapheresis before IgGAM and a single dose of antiCD20 antibody. This retrospective study presents our 9-year experience with patients transplanted with pfDSA.

View Article and Find Full Text PDF

Objectives: Total ischaemic time (IT) is considered a limiting factor in lung transplantation. In this retrospective study, we investigate effects of IT and disease burden on outcomes after bilateral lung transplantation.

Methods: A total of 1298 patients undergoing bilateral lung transplantation between January 2010 and May 2022 (follow-up 100%, median 54 months) were included.

View Article and Find Full Text PDF

Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities of brain architecture and/or function. FBXW7 (F-box and WD-repeat-domain-containing 7), a recognized developmental regulator and tumor suppressor, has been shown to regulate cell-cycle progression and cell growth and survival by targeting substrates including CYCLIN E1/2 and NOTCH for degradation via the ubiquitin proteasome system. We used a genotype-first approach and global data-sharing platforms to identify 35 individuals harboring de novo and inherited FBXW7 germline monoallelic chromosomal deletions and nonsense, frameshift, splice-site, and missense variants associated with a neurodevelopmental syndrome.

View Article and Find Full Text PDF

Recently, the gender asterisk ("Gendersternchen") has become more widespread in grammatical gender languages in order to represent all genders. Such gender-fair language is intended to help better address women and other genders and make their interests and achievements more visible. Critics often argue this would make the language less comprehensible and less aesthetically appealing.

View Article and Find Full Text PDF

Teachers' health is a persistent challenge for educational systems all over the world. Moreover, research results - especially in the domain of positive psychology - indicate that high levels of well-being are associated with additional benefits improving teachers' professional performance. Therefore, a training to foster subjective well-being with one training day, two booster sessions, and exercises before, during, and after the meetings was developed.

View Article and Find Full Text PDF

In recent years, genetic counselors have moved into increasingly varied areas of patient care. Yet limited information is known about how these genetic counselors transitioned from more general clinical practice to subspecialized practice. This study was designed to answer three research questions: (1) What common factors establish a need for a genetic counselor in a subspecialty setting? (2) How do genetic counselors in subspecialties establish their positions? (3) Once established, how do the positions of these genetic counselors evolve as the subspecialty expands? Phone interviews with subspecialized genetic counselors led to the development of an online survey distributed through the National Society of Genetic Counselors ListServ.

View Article and Find Full Text PDF

Preliminary characterization and bioactivity of water-soluble polysaccharides from four species- Royle, DC., L., and I.

View Article and Find Full Text PDF

Arabinogalactan-proteins (AGPs) are important proteoglycans of plant cell walls. They seem to be present in most, if not all seed plants, but their occurrence and structure in bryophytes is widely unknown and actually the focus of AGP research. With regard to evolution of plant cell wall, we isolated AGPs from the three mosses Sphagnum sp.

View Article and Find Full Text PDF

The Scale of Positive and Negative Experience (SPANE) measures the frequency of positive and negative affect. It consists of two subscales, one for positive and one for negative affect with six adjectives each and assesses a broad range of emotions. In this study, the psychometric properties of the German version of the scale were explored with reliability and confirmatory factorial analysis by using a German sample of N = 498.

View Article and Find Full Text PDF

Good self-control has been linked to adaptive outcomes such as better health, cohesive personal relationships, success in the workplace and at school, and less susceptibility to crime and addictions. In contrast, self-control failure is linked to maladaptive outcomes. Understanding the mechanisms by which self-control predicts behavior may assist in promoting better regulation and outcomes.

View Article and Find Full Text PDF

Arabinogalactan (AG) isolated from dust of a traditional farm prevents disease in murine models of allergy. However, it is unclear whether this polysaccharide has immune regulatory properties in humans. The aim of this study was to test the influence of AG on the immune-stimulating properties of human dendritic cells (DCs).

View Article and Find Full Text PDF

In educational hypermedia environments, students are often confronted with potential sources of distraction arising from additional information that, albeit interesting, is unrelated to their current task goal. The paper investigates the conditions under which distraction occurs and hampers performance. Based on theories of volitional action control it was hypothesized that interesting information, especially if related to a pending goal, would interfere with task performance only when working on easy, but not on difficult tasks.

View Article and Find Full Text PDF

Diabetic retinopathy is the leading cause of vision loss in working-age individuals in the United States and is expected to continue growing with the increased prevalence of diabetes. Streptozotocin-induced hyperglycemia in rats is the most commonly used model for diabetic retinopathy. Previous studies have shown that this model can lead to different inflammatory changes in the retina depending on the strain of rat.

View Article and Find Full Text PDF

Background: Myelomeningocele (MMC) commonly causes impairments in body structure and functions as well as cognitive disabilities that can have an adverse effect on adult life. Improved medical care has resulted in increased numbers of individuals with MMC surviving to adulthood, however little is known about the impact of MMC on the lives of adults age 25 years or older.

Objective: To gain a better understanding of outcomes in education, employment, relationships, reproduction and life satisfaction of adults with MMC.

View Article and Find Full Text PDF

Using a multi-group cross-sectional design, we explored self-concept related to parental role salience and enactment in 53 young women (14 to 24 years) with knowledge they were either carriers, non-carriers, or could be a carrier of fragile X syndrome (FXS). Parental role salience included the participants' desire "to be a mother" and the importance they placed on this role. Enactment focused on the participants' views regarding ways to become a mother (reproductive options), parenting a child affected by FXS, and the development of partner relationships (marriage).

View Article and Find Full Text PDF

Diabetes and its related complications represent a major growing health concern and economic burden worldwide. Ocular manifestations of diabetes include cataractogenesis and retinopathy, the latter being the leading cause of blindness in the working-age population. Despite numerous studies and recent progress, the exact pathophysiology of the disease remains to be fully elucidated and development of new and improved therapeutic strategies for this chronic condition are greatly needed.

View Article and Find Full Text PDF

Parental approaches to communicating information about genetic disorders to their children may be an important determinant in how the children manage stress as well as their adjustment and adaptation to that information. We explored communication patterns through structured interviews with 46 parents of daughters who learned about their genetic risk status as minors. Three different levels of knowledge about fragile X syndrome were explored: 1) informing that it has been diagnosed in the family and is an inherited disorder, 2) informing about the possibility of a daughter being a carrier, and 3) if testing had been done, informing the daughter of her actual carrier status.

View Article and Find Full Text PDF

We report here on our findings from adolescent and young adult females (ages 14-25) with a family history of fragile X syndrome regarding their perceptions of the optimal ages for (1) learning fragile X is inherited, (2) learning one could be a carrier for fragile X, and (3) offering carrier testing for fragile X. Three groups were enrolled: those who knew they were carriers or noncarriers and those who knew only they were at-risk to be a carrier. Only 2 of the 53 participants felt that offering carrier testing should be delayed until the age of 18 years.

View Article and Find Full Text PDF

Little is known about how and what genetic risk information parents communicate to their children and even less is known about what children hear and remember. To address this void, we explored how genetic risk information was learned, what information was given and who primarily provided information to adolescent girls and young adult women in families with fragile X syndrome. We explored three levels of risk knowledge: learning that fragile X syndrome was an inherited disorder, that they could be a carrier, and for those who had been tested, actual carrier status.

View Article and Find Full Text PDF

Unlabelled: The incidence and significance of a donor-specific human leukocyte antigen antibody response to massive fresh-frozen human bone allograft implantation is not established. This study was a prospective, multicenter study of a cohort of consecutive patients who self-randomized themselves into two groups based on their alloantibody response to allograft bone transplant. The study hypothesis was that donor-directed antibodies are an independent risk factor influencing incorporation of massive frozen bone allografts.

View Article and Find Full Text PDF

To determine whether recipient HLA phenotypes are correlated with an increased or decreased risk of alloantibody sensitization in end-stage renal disease (ESRD) candidates for first or repeat kidney transplantation; we analyzed 19440 kidney allograft recipients consisting of 13,216 Caucasians and 6224 non-Caucasians transplanted between 10/87 and 11/98 at South-Eastern Organ Procurement Foundation (SEOPF) member institutions. Relative risk values and 95% confidence limits were obtained using Wolfe's method. Logistic regression was used to adjust for covariates that influence sensitization, i.

View Article and Find Full Text PDF