Centers for rare diseases serve as contact points for patients with complex, often undiagnosed complaints and persistent somatic symptoms of heterogeneous origin. Little is known about psychological ...distress of patients consulting these centers.
To better understand psychological distress of adult patients presenting at a center for rare diseases by determining the proportion of patients screening positive for depressive, anxiety, and somatic symptom disorders (SSD) and to identify factors associated with increased psychopathology.
Cross-sectional data from the routine care registry of the Martin Zeitz Center for Rare Diseases (MZCSE) at the University Medical Center Hamburg-Eppendorf in Germany was retrieved and analyzed. We included all adult patients presenting between October 01,2020 and September 30,2021, who gave written informed consent.
Sociodemographic variables, medical history and healthcare utilization, as well as validated measures to screen for a depressive disorder (PHQ-8), an anxiety disorder (GAD-7), and SSD (PHQ-15, SSD-12).
N = 167 patients were included (age 44.5 ± 14.3 years, 64.7% female). A total of 40.7% of the patients screened positive for a depressive disorder (PHQ-8 ≥ 10), 27.5% for an anxiety disorder (GAD-7 ≥ 10) and 45.0% screened positive for SSD (PHQ-15 ≥ 9 & SSD-12 ≥ 23). Factors associated with increased psychopathology included the number of symptoms, the number of different specialties consulted before and past psychotherapy.
Patients presenting at centers for rare diseases are likely to experience high rates of psychological distress. Systematically screening patients with rare and undiagnosed diseases for mental disorders can help to detect those at risk at an early stage and initiate adequate psychological care.
The Interdisciplinary Diagnosis of Rare Diseases Rillig, Franziska; Grüters, Annette; Schramm, Christoph ...
Deutsches Ärzteblatt international,
07/2022, Volume:
119, Issue:
27-28
Journal Article
Peer reviewed
Open access
Patients with rare diseases often undergo a diagnostic odyssey that can last many years until the diagnosis is definitively established. To improve the diagnosis and treatment of these patients, the ...German National Task Force for Patients With Rare Diseases (Nationales Aktionsbündnis für Menschen mit Seltenen Erkrankungen, NAMSE) has recommended the creation of Rare Disease Centers (RDCs).
As part of the joint Translate-NAMSE project, sponsored by the G-BA Innovation Fund (G-BA, German Federal Joint Committee), we investigated the performance of RDCs in establishing the diagnosis of patients suspected to have a rare disease. The results of interdisciplinary case conferences and of exome diagnostic tests were analyzed in a prospective, multicenter observational study.
A total of 5652 patients (of whom 3619 were under 18 years old, and 2033 were at least 18 years old) from 10 RDCs who did not yet have a definitive diagnosis of a rare disease were included in the study. On average, those who were under 18 years old had been symptomatic for 4.5 years without receiving a diagnosis in a standard care setting; the analogous figure for adult patients was 8.2 years. Over the course of this project (2017-2021), 1682 patients (30%) received a definitive diagnosis. 193 had a common disease, 88 had a psychosomatic disease (only in patients who were at least 18 years old), and 1401 had a rare disease. 14 850 case conferences were conducted. 1599 exome analyses led to 506 definitive genetic diagnoses (32%).
A diagnostic evaluation with the aid of interdisciplinary case conferences and the opportunity for exome analysis can be of benefit to people with rare diseases who have not received a definitive diagnosis in a standard care setting. Further improvement of the diagnosis rate can come from whole-genome analysis and from the introduction of an international registry.
Research on mycorrhizal interactions has traditionally developed into separate disciplines addressing different organizational levels. This separation has led to an incomplete understanding of ...mycorrhizal functioning. Integration of mycorrhiza research at different scales is needed to understand the mechanisms underlying the context dependency of mycorrhizal associations, and to use mycorrhizae for solving environmental issues. Here, we provide a road map for the integration of mycorrhiza research into a unique framework that spans genes to ecosystems. Using two key topics, we identify parallels in mycorrhiza research at different organizational levels. Based on two current projects, we show how scientific integration creates synergies, and discuss future directions. Only by overcoming disciplinary boundaries, we will achieve a more comprehensive understanding of the functioning of mycorrhizal associations.
Mycorrhiza research has traditionally developed into distinct disciplines at different organizational levels from the cellular to ecosystem level.
This separation leads to a limited understanding of mycorrhiza functioning and its role within ecosystems.
Here, we show how the different disciplines in mycorrhiza research commonly address the same general questions and how these questions are nested in the next organizational level.
By integrating different disciplines, these disciplines are able to complement each other and foster the development of a comprehensive understanding of mycorrhizal associations.
We introduce two ongoing projects as examples where the integration of disciplines in mycorrhiza research is already common practice.
Aim Little is known about how N and P co-limited ecosystems respond to single nutrient enrichment. This work assesses the susceptibility of above- and belowground ecosystem components and of their ...linkages in an N and P co-limited pasture to N- and P-enrichment. We tested if the plants' responses can be explained by the concept of serially linked nutrients introduced by Ågren (Ecol Lett 7:185–191, 2004). In this concept, the control of the growth rate by one nutrient is assumed to depend on the control of a different cellular process by another nutrient. Methods We investigated the responses of shoot and root biomass and C:N:P stoichiometry of the grass Setaria sphacelata (Schumach.) to moderate N, P, and N+P application over 5 years. In addition, the effects of nutrient enrichment on soil nutrient pools, on arbuscular mycorrhizal fungi (AMF) as well as on microbial biomass, activity, and community structure (phospholipid fatty acids: PLFA) were tested. In order to evaluate the importance of different factors explaining microbial responses, we applied a likelihood-based information-theoretic approach. Results The application of N+P increased aboveground grass biomass (+61 %). Root biomass was stimulated by P-treatment (+45 %). Grass C:N:P stoichiometry responded by altering the P-uptake (P-treatment) or by translocating P from shoot to root (N-treatment). In particular, root C:N and C:P stoichiometry decreased in P- and in N-treatment. Extractable fractions of soil C, N, and P were significantly affected by nutrient enrichment. P application increased the biomass of Gram-positive bacteria (+22 %) and the abundance of AMF (+46 %), however, results of the IT-approach suggested indirect effects of nutrient enrichment on microbes. Conclusions The responses of the N and P co-limited pasture to particular nutrient enrichment support the concept of serially linked nutrients. The present study provides evidence for the fundamental importance of P for controlling resource allocation of plants in responses to nutrient enrichment. Resource allocation of the grass rather than direct effects of nutrient additions drives changes in AMF, microbial biomass, community structure, and activity.
Human activities cause substantial changes in biodiversity.1,2 Despite ongoing concern about the implications of invertebrate decline,3,4,5,6,7 few empirical studies have examined the ecosystem ...consequences of invertebrate biomass loss. Here, we test the responses of six ecosystem services informed by 30 above- and belowground ecosystem variables to three levels of aboveground (i.e., vegetation associated) invertebrate community biomass (100%, 36%, and 0% of ambient biomass) in experimental grassland mesocosms in a controlled Ecotron facility. In line with recent reports on invertebrate biomass loss over the last decade, our 36% biomass treatment also represented a decrease in invertebrate abundance (−70%) and richness (−44%). Moreover, we simulated the pronounced change in invertebrate biomass and turnover in community composition across the season. We found that the loss of invertebrate biomass decreases ecosystem multifunctionality, including two critical ecosystem services, aboveground pest control and belowground decomposition, while harvested plant biomass increases, likely because less energy was channeled up the food chain. Moreover, communities and ecosystem functions become decoupled with a lower biomass of invertebrates. Our study shows that invertebrate loss threatens the integrity of grasslands by decoupling ecosystem processes and decreasing ecosystem-service supply.
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•We test the ecosystem consequences of simulated invertebrate decline in an Ecotron•Loss of invertebrate biomass decreases ecosystem multifunctionality•Invertebrate loss reduces aboveground pest control and belowground decomposition•Ecosystem functions become decoupled with a lower biomass of invertebrates
Eisenhauer et al. test the ecosystem consequences of invertebrate loss in experimental grassland mesocosms. They find that invertebrate biomass loss decreases ecosystem multifunctionality and coupling, indicating that invertebrate loss threatens the integrity of grasslands by decoupling ecosystem processes and decreasing ecosystem-service supply.
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