To Split or Not to Split: Characterizing Chemical Pollution Impacts in Aquatic Ecosystems with Species Sensitivity Distributions for Specific Taxonomic Groups.

Bridging applied ecology and ecotoxicology is key to protect ecosystems. These disciplines show a mismatch, especially when evaluating pressures. Contrasting to applied ecology, ecotoxicological impacts are often characterized for whole species assemblages based on Species Sensitivity Distributions (SSDs). SSDs are statistical models describing per chemical across-species sensitivity variation based on laboratory toxicity tests. To assist in the aligning of the disciplines and improve decision-support uses of SSDs, we investigate taxonomic-group-specific SSDs for algae/cyanobacteria/aquatic plants, invertebrates, and vertebrates for 180 chemicals with sufficient test data. We show that splitting improves pollution impact assessments for chemicals with a specific mode of action and, surprisingly, for narcotic chemicals. We provide a framework for splitting SSDs that can be applied to serve in environmental protection, life cycle assessment, and management of freshwater ecosystems. We illustrate that using split SSDs has potentially large implications for the decision-support of SSD-based outputs around the globe.

Multicompartment Depletion Factors for Water Consumption on a Global Scale.

Balancing human communities' and ecosystems' need for freshwater is one of the major challenges of the 21st century as population growth and improved living conditions put increasing pressure on freshwater resources. While frameworks to assess the environmental impacts of freshwater consumption have been proposed at the regional scale, an operational method to evaluate the consequences of consumption on different compartments of the water system and account for their interdependence is missing at the global scale. Here, we develop depletion factors that simultaneously quantify the effects of water consumption on streamflow, groundwater storage, soil moisture, and evapotranspiration globally. We estimate freshwater availability and water consumption using the output of a global-scale surface water-groundwater model for the period 1960-2000. The resulting depletion factors are provided for 8,664 river basins, representing 93% of the landmass with significant water consumption, i.e., excluding Greenland, Antarctica, deserts, and permanently frozen areas. Our findings show that water consumption leads to the largest water loss in rivers, followed by aquifers and soil, while simultaneously increasing evapotranspiration. Depletion factors vary regionally with ranges of up to four orders of magnitude depending on the annual consumption level, the type of water used, aridity, and water transfers between compartments. Our depletion factors provide valuable insights into the intertwined effects of surface and groundwater consumption on several hydrological variables over a specified period. The developed depletion factors can be integrated into sustainability assessment tools to quantify the ecological impacts of water consumption and help guide sustainable water management strategies, while accounting for the performance limitations of the underlying model.

Hybrid Prediction-Driven High-Throughput Sustainability Screening for Advancing Waste-to-Dimethyl Ether Valorization.

Assessing the prospective climate preservation potential of novel, innovative, but immature chemical production techniques is limited by the high number of process synthesis options and the lack of reliable, high-throughput quantitative sustainability pre-screening methods. This study presents the sequential use of data-driven hybrid prediction (ANN-RSM-DOM) to streamline waste-to-dimethyl ether (DME) upcycling using a set of sustainability criteria. Artificial neural networks (ANNs) are developed to generate in silico waste valorization experimental results and ex-ante model the operating space of biorefineries applying the organic fraction of municipal solid waste (OFMSW) and sewage sludge (SS). Aspen Plus process flowsheeting and ANN simulations are postprocessed using the response surface methodology (RSM) and desirability optimization method (DOM) to improve the in-depth mechanistic understanding of environmental systems and identify the most benign configurations. The hybrid prediction highlights the importance of targeted waste selection based on elemental composition and the need to design waste-specific DME synthesis to improve techno-economic and environmental performances. The developed framework reveals plant configurations with concurrent climate benefits (-1.241 and -2.128 kg CO2-eq (kg DME)-1) and low DME production costs (0.382 and 0.492 € (kg DME)-1) using OFMSW and SS feedstocks. Overall, the multi-scale explorative hybrid prediction facilitates early stage process synthesis, assists in the design of block units with nonlinear characteristics, resolves the simultaneous analysis of qualitative and quantitative variables, and enables the high-throughput sustainability screening of low technological readiness level processes.

Resource efficiency analysis through planetary boundary-based life cycle assessment: a case study of sugarcane in Pakistan.

Purpose: Extensive agriculture activities for crop production have led to increasing environmental impacts that threaten to exceed environmentally safe limits. The purpose of this study is to analyze resource efficiency of the agri-food industry, considering the case of sugarcane production in Pakistan. Methods: A holistic approach has been applied by determining the relevant impact categories and Sustainable Development Goals (SDGs), and linking them with Planetary Boundary-based Life Cycle Assessment (PB-LCA). Both the spatially generic and spatially resolved approaches were considered with application of different sharing principles. Results and discussion: Application of different sharing principles showed high variations in the assigned share of the safe operating space values. When taking a spatially generic approach, most of the impacts (except marine eutrophication and water consumption) were within the safe operating space for equal per capita, economic, caloric, and grandfathering sharing principles. However, all the impacts exceeded their limits considering the agri-land sharing and land use impact surpassed its budget considering the grandfathering sharing. In the spatially resolved approach, most of the impact values surpassed the available budgets. Furthermore, the failure to attain the pertinent SDG targets from a PB-LCA perspective is indicated by the exceeding of safe operating space for relevant impact categories. Conclusions: Overall, the production of sugarcane was found to be unsustainable, requiring urgent action to promote resource improvement and contain the impacts within safe limits. The developed framework enabled the evaluation of the SDGs using PB-LCA at the product level. The target-driven impact reduction values would help in achieving the targets and prioritizing the efforts by making informed decisions for reducing impacts within safe limits. Supplementary Information: The online version contains supplementary material available at 10.1007/s11367-023-02185-7.

[Monogenic diabetes : a pioneer in precision medicine management]. / Diabète monogénique : pionnier dans la prise en charge par la médecine de précision.

Diabetes mellitus in children is subdivided into several categories depending on the underlying pathological mechanism. Type 1 diabetes is due to the autoimmune destruction of pancreatic beta-cells, type 2 diabetes to progressive impairment in insulin secretion or insulin sensitivity, and monogenic diabetes due to genetic abnormalities, impairing insulin secretion. In monogenic diabetes, genetic defects result in pancreatic or beta-cell defects (abnormal function or destruction), resulting in neonatal or MODY (Maturity-Onset Diabetes of the Young) diabetes, depending on the age of onset. The identification of monogenic diabetes is crucial as it allows the initiation of targeted and personalized treatment.

Le diabète sucré de l'enfant est subdivisé en plusieurs catégories en fonction du mécanisme pathologique sous-jacent : de type 1 par destruction autoimmune des cellules bêta du pancréas, de type 2 par perte progressive d'une sécrétion adéquate ou de sensibilité à l'insuline et monogénique par anomalie génétique perturbant la sécrétion d'insuline. Dans ce dernier, les anomalies génétiques entraînent des défauts du développement du pancréas ou de la cellule bêta (anomalie de fonction ou destruction), menant à un diabète néonatal ou un diabète MODY (Maturity-Onset Diabetes of the Young) en fonction de l'âge d'apparition. L'identification du diabète monogénique est primordiale puisqu'elle permet l'instauration d'un traitement ciblé et personnalisé.

[Obesity in infancy: new precision treatment]. / Obésité infantile : nouveautés thérapeutiques ciblées.

Obesity is a chronical disease, which leads to multiple short- and long-term complications. 4% of Swiss children and adolescents are obese. A prompt diagnosis and multicomponent lifestyle intervention is mandatory to avoid persistence of the disease into adulthood. Growth and BMI charts are still the essential tools to diagnose and define the etiology of obesity. A precocious and severe obesity, accompanied by hyperphagia, will raise the suspicion of monogenic obesity. The precise molecular diagnosis enables in some patients the use of a specific treatment. Leptine in case of LEP gene defects, or setmelanotide when the affected gene is part of the MC4R signaling pathway (LEPR, POMC, PCSK1).

L'obésité est une maladie chronique, associée à de multiples complications à court et à long termes, présente chez 4 % des enfants et adolescents en Suisse. Un dépistage et une intervention multidisciplinaire précoces sont essentiels pour éviter la persistance de la maladie à l'âge adulte. Les courbes de croissance et de l'IMC sont les outils indispensables pour repérer la maladie et orienter l'étiologie. Ainsi, une obésité d'apparition précoce, de caractère sévère et accompagnée d'une hyperphagie oriente le clinicien vers le diagnostic d'obésité monogénique. Un diagnostic moléculaire précis permet de connaître le gène défectueux et offre, dans certains cas, un traitement ciblé très efficace pour le patient : la leptine en cas de mutation du gène LEP, ou le setmélanotide dans les défauts de la voie de signalisation du MC4R (LEPR, POMC, PCSK1).

Toward Assessing Absolute Environmental Sustainability of Chemical Pollution.

Chemicals are widely used in modern society, which can lead to negative impacts on ecosystems. Despite the urgent relevance for global policy setting, there are no established methods to assess the absolute sustainability of chemical pressure at relevant spatiotemporal scales. We propose an absolute environmental sustainability framework (AESA) for chemical pollution where (1) the chemical pressure on ecosystems is quantified, (2) the ability for ecosystems to withstand chemical pressure (i.e., their carrying capacity) is determined, and (3) the "safe space" is derived, wherein chemical pressure is within the carrying capacity and hence does not lead to irreversible adverse ecological effects. This space is then allocated to entities contributing to the chemical pressure. We discuss examples involving pesticide use in Europe to explore the associated challenges in implementing this framework (e.g., identifying relevant chemicals, conducting analyses at appropriate spatiotemporal scales) and ways forward (e.g., chemical prioritization approaches, data integration). The proposed framework is the first step toward understanding where and how much chemical pressure exceeds related ecological limits and which sources and actors are contributing to the chemical pressure. This can inform sustainable levels of chemical use and help policy makers establish relevant and science-based protection goals from regional to global scale.

Outside the Safe Operating Space of the Planetary Boundary for Novel Entities.

We submit that the safe operating space of the planetary boundary of novel entities is exceeded since annual production and releases are increasing at a pace that outstrips the global capacity for assessment and monitoring. The novel entities boundary in the planetary boundaries framework refers to entities that are novel in a geological sense and that could have large-scale impacts that threaten the integrity of Earth system processes. We review the scientific literature relevant to quantifying the boundary for novel entities and highlight plastic pollution as a particular aspect of high concern. An impact pathway from production of novel entities to impacts on Earth system processes is presented. We define and apply three criteria for assessment of the suitability of control variables for the boundary: feasibility, relevance, and comprehensiveness. We propose several complementary control variables to capture the complexity of this boundary, while acknowledging major data limitations. We conclude that humanity is currently operating outside the planetary boundary based on the weight-of-evidence for several of these control variables. The increasing rate of production and releases of larger volumes and higher numbers of novel entities with diverse risk potentials exceed societies' ability to conduct safety related assessments and monitoring. We recommend taking urgent action to reduce the harm associated with exceeding the boundary by reducing the production and releases of novel entities, noting that even so, the persistence of many novel entities and/or their associated effects will continue to pose a threat.

[New technology of diabetes management: learning together and in situation]. / Nouvelle technologie de gestion du diabète: apprendre ensemble et en situation.

The introduction of a new technology for the management of diabetes raises questions about their actual use. This is the case with the Freestyle Libre sensor, a tool that measures the interstitial glucose levels. Some studies have provided recommendations about its use, but little is known about how users learn to use it in the daily management of the disease. This ethnographic research explores this issue in the context of a summer camp for young people living with diabetes. The results describe three different levels (material, epistemic and moral) at which learning occurs. They show that its use requires an active appropriation process, the importance of a setting that promotes interactions between the participants and that the features of the tend to reconfigure the expert-lay person relationship.

L'introduction d'une nouvelle technologie de gestion du diabète soulève des questions sur son usage effectif. C'est le cas du capteur FreeStyle Libre, un outil mesurant la glycémie interstitielle. Des études ont fourni des recommandations sur son usage, mais on en sait peu sur la manière dont les usager-ère-s apprennent à l'utiliser dans la gestion quotidienne du diabète. Cette recherche ethnographique étudie cette question dans le cadre d'un camp d'été pour jeunes vivant avec un diabète. Les résultats décrivent trois niveaux différents (matériel, épistémique et moral) auxquels cet apprentissage se réalise. Ils montrent que son usage requiert un travail d'appropriation actif, l'intérêt d'un dispositif qui favorise les interactions entre participant-e-s et que les caractéristiques de l'outil tendent à reconfigurer la relation expert-profane.

Multiple Climate Tipping Points Metrics for Improved Sustainability Assessment of Products and Services.

Mounting evidence indicates that climate tipping points can have large, potentially irreversible, impacts on the earth system and human societies. Yet, climate change metrics applied in current sustainability assessment methods generally do not consider these tipping points, with the use of arbitrarily determined time horizons and assumptions that the climate impact of a product or service is independent of emission timing. Here, we propose a new method for calculating climate tipping characterization factors for greenhouse gases (carbon dioxide, methane, and nitrous oxide) at midpoint. It covers 13 projected tipping points, incorporates the effect that the crossing of a given tipping point has on accelerating the crossing of other tipping points, and addresses uncertainties in the temperature thresholds that trigger the tipping points. To demonstrate the added value of the new metric, we apply it to emissions stemming from end-of-life of plastic polymers and compare them with commonly used metrics. This highlights the need to consider climate tipping in sustainability assessment of products and services.

Elevated lactate in Mauriac syndrome: still a mystery.

BACKGROUND: The Mauriac syndrome was described in 1930 as a peculiar combination of poorly controlled diabetes mellitus type 1, stunted growth and glycogenic hepatopathy. More recently, lactic acidosis was recognized as an additional feature, often induced by insulin treatment. CASE PRESENTATION: A 17-year old girl known for diabetes type 1A and Mauriac syndrome was admitted to the emergency room with hyperglycemia of > 41 mmol/l without ketoacidosis. Under a standard insulin regimen, hyperglycemia was rapidly corrected but marked hyperlactatemia occurred. CONCLUSIONS: The mechanism of impaired glucose utilization and lactate elevation independent of ketoacidosis in Mauriac syndrome is intriguing. The rarity of Mauriac syndrome and its resemblance to glycogen storage diseases suggest the presence of a specific metabolic or genetic predisposition that remains to be identified.

Health behaviour of women with Turner Syndrome.

AIM: This study assessed lifestyle-related risk factors for cardiovascular disease in young women with Turner syndrome. METHODS: In 2012, we sent a questionnaire to women with Turner syndrome aged ≥18 years and living in Switzerland with questions on socio-demographic and medical data as well as health behaviour. We compared the reported lifestyle with that of women from the Swiss Health Survey 2012, a representative survey of the general population. RESULTS: Fifty-seven per cent (45/79) of women with Turner syndrome answered the questionnaire (mean age: 24 years). Eighty per cent (36/45) had never smoked compared with 58% (1156/1972) of the general population (p < 0.01). Women with Turner syndrome engaged less often in binge drinking (34% vs. 71%) (p < 0.001), but consumed alcohol equally often as the general population (p = 0.327). They performed sports as often as the general population (p = 0.34), but only one quarter (11/45) of women with Turner syndrome adhered to official physical activity recommendations. CONCLUSION: Although most women with Turner syndrome had a healthy lifestyle, only a minority had sufficient physical activity. Paediatricians should promote structured physical activity in girls with Turner syndrome from early childhood onwards to reduce their cardiovascular risk in adulthood and to increase long-term health-related quality of life.

DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.

Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease characterized by absent puberty and infertility due to GnRH deficiency, and is often associated with anosmia [Kallmann syndrome (KS)]. The genetic etiology of CHH is heterogeneous, and more than 30 genes have been implicated in approximately 50% of patients with CHH. We hypothesized that genes encoding axon-guidance proteins containing fibronectin type-III (FN3) domains (similar to ANOS1, the first gene associated with KS), are mutated in CHH. We performed whole-exome sequencing in a cohort of 133 CHH probands to test this hypothesis, and identified rare sequence variants (RSVs) in genes encoding for the FN3-domain encoding protein deleted in colorectal cancer (DCC) and its ligand Netrin-1 (NTN1). In vitro studies of these RSVs revealed altered intracellular signaling associated with defects in cell morphology, and confirmed five heterozygous DCC mutations in 6 probands-5 of which presented as KS. Two KS probands carry heterozygous mutations in both DCC and NTN1 consistent with oligogenic inheritance. Further, we show that Netrin-1 promotes migration in immortalized GnRH neurons (GN11 cells). This study implicates DCC and NTN1 mutations in the pathophysiology of CHH consistent with the role of these two genes in the ontogeny of GnRH neurons in mice.

Influence of metal speciation on soil ecotoxicity impacts in life cycle assessment.

It is unknown whether metallic elements remain important contributors to terrestrial ecotoxicity impact scores in life cycle assessment (LCA) when solid- and liquid-phase speciation are considered in environmental fate, exposure and effects. Here, a new speciation-based method for calculating comparative toxicity potentials (CTP) of 23 metallic elements in soils was compared with two other widely used methods which do not consider speciation (i.e., IMPACT, 2002+ and ReCiPe 2008) for nearly 13,000 life cycles of unit processes taken from different sectors. Differences in impact scores between method were driven either by differences in characterization models (ReCiPe 2008) or both by differences in characterization models and substance coverage (IMPACT, 2002+). Strong correlations (r > 0.98) and seemingly constant shifts in impact scores were found for those processes where one or few substances (usually metals) contributed most to total impact and there were large differences in CTPs between methods for these substances. Weaker correlations but often better agreement in impact scores were found for those processes where organic substances were dominant contributors to total impact. Our results suggest that metals are expected to remain important contributors to soil ecotoxicity impacts in LCA when speciation is considered.

[Polycystic ovary syndrome in obese or type 1 diabetic (T1D) adolescent girls]. / Syndrome des ovaires polykystiques chez l'adolescente diabétique ou obèse.

Polycystic ovary syndrome (PCOS) is frequent during adolescence (prevalence ≈ 6 %), and the prevalence increases in obese or type 1 diabetic (T1D) adolescent girls. During puberty, PCOS diagnosis is difficult because of the overlap with some pubertal physiologic signs. The 2017 international consortium suggests two required diagnostic criteria: persistent menstrual disturbances and hyperandrogenism. PCOS physiopathology is complex, including interactions between genetic, epigenetic factors, primary ovarian abnormalities, neuroendocrine alterations, hormonal and metabolic factors. Insulin seems to have a central place in obese or T1D adolescent girls. The treatment is still debated and should be monitored according to the main symptoms.

Le syndrome des ovaires polykystiques (SOPK) est fréquent à l'adolescence (prévalence ≈ 6 %), et la prévalence augmente en cas d'obésité ou de diabète de type 1 (DT1). À l'adolescence, le diagnostic du SOPK est difficile en raison de signes communs avec la puberté physiologique. Le consortium international de 2017 propose deux critères diagnostiques indispensables : les troubles du cycle menstruel et l'hyperandrogénie. La physiopathologie du SOPK, partiellement élucidée, est complexe, impliquant l'interaction entre des facteurs génétiques et épigénétiques, des anomalies ovariennes, des altérations neuroendocrines, des facteurs hormonaux et métaboliques. L'insuline semble avoir un rôle central chez l'adolescente obèse ou avec DT1. Le traitement fait encore l'objet de discussion et doit être adapté selon les signes prédominants.

Overview and recommendations for regionalized life cycle impact assessment.

PURPOSE: Regionalized life cycle impact assessment (LCIA) has rapidly developed in the past decade, though its widespread application, robustness, and validity still faces multiple challenges. Under the umbrella of UNEP/SETAC Life Cycle Initiative, a dedicated cross-cutting working group on regionalized LCIA aims to provides an overview of the status of regionalization in LCIA methods. We give guidance and recommendations to harmonize and support regionalization in LCIA for developers of LCIA methods, LCI databases, and LCA software. METHOD: A survey of current practice among regionalized LCIA method developers was conducted. The survey included questions on chosen method spatial resolution and scale, the spatial resolution of input parameters, choice of native spatial resolution and limitations, operationalization and alignment with life cycle inventory data, methods for spatial aggregation, the assessment of uncertainty from input parameters and model structure, and variability due to spatial aggregation. Recommendations are formulated based on the survey results and extensive discussion by the authors. RESULTS AND DISCUSSION: Survey results indicate that majority of regionalized LCIA models have global coverage. Native spatial resolutions are generally chosen based on the availability of global input data. Annual modelled or measured elementary flow quantities are mostly used for aggregating characterization factors (CFs) to larger spatial scales, although some use proxies, such as population counts. Aggregated CFs are mostly available at the country level. Although uncertainty due to input parameter, model structure, and spatial aggregation are available for some LCIA methods, they are rarely implemented for LCA studies. So far, there is no agreement if a finer native spatial resolution is the best way to reduce overall uncertainty. When spatially differentiated models CFs are not easily available, archetype models are sometimes developed. CONCLUSIONS: Regionalized LCIA methods should be provided as a transparent and consistent set of data and metadata using standardized data formats. Regionalized CFs should include both uncertainty and variability. In addition to the native-scale CFs, aggregated CFs should always be provided, and should be calculated as the weighted averages of constituent CFs using annual flow quantities as weights whenever available. This paper is an important step forward for increasing transparency, consistency and robustness in the development and application of regionalized LCIA methods.

Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.

PURPOSE: Congenital hypogonadotropic hypogonadism (CHH), a rare genetic disease caused by gonadotropin-releasing hormone deficiency, can also be part of complex syndromes (e.g., CHARGE syndrome). CHD7 mutations were reported in 60% of patients with CHARGE syndrome, and in 6% of CHH patients. However, the definition of CHD7 mutations was variable, and the associated CHARGE signs in CHH were not systematically examined. METHODS: Rare sequencing variants (RSVs) in CHD7 were identified through exome sequencing in 116 CHH probands, and were interpreted according to American College of Medical Genetics and Genomics guidelines. Detailed phenotyping was performed in CHH probands who were positive for CHD7 RSVs, and genotype-phenotype correlations were evaluated. RESULTS: Of the CHH probands, 16% (18/116) were found to harbor heterozygous CHD7 RSVs, and detailed phenotyping was performed in 17 of them. Of CHH patients with pathogenic or likely pathogenic CHD7 variants, 80% (4/5) were found to exhibit multiple CHARGE features, and 3 of these patients were reclassified as having CHARGE syndrome. In contrast, only 8% (1/12) of CHH patients with nonpathogenic CHD7 variants exhibited multiple CHARGE features (P = 0.01). CONCLUSION: Pathogenic or likely pathogenic CHD7 variants rarely cause isolated CHH. Therefore a detailed clinical investigation is indicated to clarify the diagnosis (CHH versus CHARGE) and to optimize clinical management.

Accuracy, satisfaction and usability of a flash glucose monitoring system among children and adolescents with type 1 diabetes attending a summer camp.

BACKGROUND: The study aimed to assess accuracy, satisfaction and usability of a flash glucose monitoring system (FGM) in children and adolescents with type 1 diabetes mellitus (T1DM) attending a diabetes summer camp. METHODS: Sixty-six children and adolescents with T1DM aged 6 to 17 years participating in a 7-day medically supervised summer camp were enrolled. Capillary blood glucose (BG) and flash glucose (FG) values were measured simultaneously at breakfast, lunch, and dinner and for any given FG value <72 mg/dL (<4.0 mmol/L) during daytime, <108 mg/dL (<6.0 mmol/L) at nighttime, >270 mg/dL (>15.0 mmol/L) or when patient symptoms were discordant with sensor readings. Sensor-related issues were documented and patients' and healthcare professionals' (HCPs) satisfaction was evaluated. RESULTS: FGM demonstrated satisfactory clinical accuracy compared to reference capillary BG values with 98.8% of values falling within the clinically acceptable zones (A and B) of the consensus error grid. Overall mean absolute relative difference (MARD) was 16.7% ± 16.1%. Specific calculations of mean absolute difference (MAD), mean relative difference (MRD), and mean difference (MD) demonstrated that FGM overestimated BG values across all glycemic ranges. Overall satisfaction with the FGM was high in 91.7% participants and 95.0% HCPs, although confidence in the system was low in 18.0% participants and 40.0% HCPs. CONCLUSIONS: The FGM exhibited satisfactory clinical accuracy. However, based on the present data, we conclude that no decision should be taken on the basis of a single, non-verified, FGM value alone. Our study highlights the need for revised therapeutic education for patients/families and further investigation on the integration of sensor readings in clinical decision-making.

Patient Perspectives on Nurse-led Consultations Within a Pilot Structured Transition Program for Young Adults Moving From an Academic Tertiary Setting to Community-based Type 1 Diabetes Care.

PURPOSE: We aimed to evaluate patient self-management activities, patient perceptions of the therapeutic relationship and satisfaction with nurse-led consultations as part of a structured, pilot program transitioning young adults with type 1 diabetes (T1DM) to adult-oriented community-based practices. DESIGN AND METHODS: A descriptive, cross-sectional study of patients receiving nurse-led consultations. Patients provided sociodemographic/health information, glycated hemoglobin (HbA1c) measures and completed questionnaires assessing self-management (Revised Self-Care Inventory) and the therapeutic relationship (Caring Nurse-Patient Interaction - short scale). HbA1c values were compared to guideline recommendations. RESULTS: Twenty patients participated. HbA1c was ≤7.5% in 3/14 (21%) and 5/14 (36%) exhibited poor glycemic control (≥9.5%). The greatest concordance for self-care was in relation to insulin therapy (4.5±0.5) while patients reported the lowest adherence to diet recommendations (2.9±0.8). Overall satisfaction with nurse-led consultations was high (4±0.5 out of 5). Patients considered diabetes knowledge and technical competence as very important and were most pleased with the humanistic aspects of nursing care. Respect for privacy was deemed the most important (and most frequently observed) nursing attitude/behavior during consultations. CONCLUSIONS: Young adults found the nurse-led consultations with therapeutic education to develop T1DM self-care skills are an important complement to medical management during transition. PRACTICE IMPLICATIONS: Patient autonomy and privacy should be respected during this developmental period. Nurses taking a humanistic approach towards accompanying and supporting the patient can enhance the therapeutic relationship during transition and promote continuity of care. Transition nurses can use technical competence and therapeutic education to empower patients for self-management.

[Challenges of the transition for obese teenager towards adult care]. / Défis de la transition de l'adolescent obèse aux soins adultes.

The prevalence of overweight and obesity among young patients increases with age, and affects one out of five at secondary school level. Ensuring continuous care of these young patients during their growth into adulthood is a true challenge, and requires a close collaboration of pediatric and adult care teams. Each step of this transition is precarious and needs specific attentions and competencies to be successful, as teenagers and young adults are simultaneously undergoing multiple changes and challenges. As each of these young patients present with their own individual development and life experiences, individualized care transitional care plans are necessary.

La prévalence des jeunes en surpoids ou obèses augmente avec l'âge, et atteint la proportion d'un écolier sur cinq au niveau secondaire. Assurer la continuité des soins de ces jeunes patients à l'âge adulte représente un véritable challenge et demande la collaboration étroite des équipes pédiatriques et adultes. Chaque étape de la transition de soins est délicate et nécessite des attentions et des compétences particulières. Les phases d'adolescence et d'adulte émergent sont caractérisées par de multiples changements rendant la transition d'autant plus difficile. Chaque jeune patient a un développement et un vécu qui lui sont propres, ce qui implique que la transition doit être individualisée et adaptée.