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The management of the long-term sequelae of coronavirus disease 2019 (COVID-19) infection, known as post-COVID-19 syndrome (PCS), continues to challenge the medical community, largely owing to a significant gap in the understanding of its aetiology, diagnosis and effective treatment. To examine general practitioners' (GPs) experiences of caring for patients with PCS and to identify unmet care needs and opportunities for improvement. This study follows a qualitative design, using in-depth semi-structured telephone interviews with GPs (  = 31) from across Germany. Interviews were audio-recorded, transcribed verbatim and analysed using qualitative content analysis. GPs reported that they were often the first point of contact for patients with persistent symptoms following SARS-CoV-2 infection, with symptoms typically resolving within weeks. While ongoing symptomatic COVID-19 is perceived to be more common, the relevance of PCS to GP practices is considerable given its severe impact on patients' functioning, social participation and the substantial time required for patient care. GPs coordinate diagnosis and treatment but face challenges because of the unclear definition of PCS and difficulties in attributing symptoms, resulting in a cautious approach to ICD-10 coding. Interviewees highlight lengthy diagnostic pathways and barriers to accessing specialist care. The findings confirm the high functional limitations and psychosocial burden of PCS on patients, and the central role of GPs in their care. The study suggests a need for further research and health policy measures to support GPs in navigating diagnostic uncertainty, interprofessional communication and the limited evidence on effective treatments.

In this article, we explore to what extent it is possible to leverage on very small data to build machine learning (ML) models that predict acute exacerbations of chronic obstructive pulmonary disease (AECOPD). We build ML models using the small data collected during the eHealth Diary telemonitoring study between 2013 and 2017 in Sweden. This data refers to a group of multimorbid patients, namely 18 patients with chronic obstructive pulmonary disease (COPD) as the major reason behind previous hospitalisations. The telemonitoring was supervised by a specialised hospital-based home care (HBHC) unit, which also was responsible for the medical actions needed. We implement two different ML approaches, one based on time-dependent covariates and the other one based on time-independent covariates. We compare the first approach with standard COX Proportional Hazards (CPH). For the second one, we use different proportions of synthetic data to build models and then evaluate the best model against authentic data. To the best of our knowledge, the present ML study shows for the first time that the most important variable for an increased risk of future AECOPDs is \"maintenance medication changes by HBHC\". This finding is clinically relevant since a sub-optimal maintenance treatment, requiring medication changes, puts the patient in risk for future AECOPDs. The experiments return useful insights about the use of small data for ML.

Samuli Ripatti and colleagues report the results of a genome-wide association study for circulating lipid levels based on 1000 Genomes Project imputation. Their results implicate several new loci, refine the association signals at many established loci and highlight the impact of low-frequency variants on lipid traits. Using a genome-wide screen of 9.6 million genetic variants achieved through 1000 Genomes Project imputation in 62,166 samples, we identify association to lipid traits in 93 loci, including 79 previously identified loci with new lead SNPs and 10 new loci, 15 loci with a low-frequency lead SNP and 10 loci with a missense lead SNP, and 2 loci with an accumulation of rare variants. In six loci, SNPs with established function in lipid genetics ( CELSR2 , GCKR , LIPC and APOE ) or candidate missense mutations with predicted damaging function ( CD300LG and TM6SF2 ) explained the locus associations. The low-frequency variants increased the proportion of variance explained, particularly for low-density lipoprotein cholesterol and total cholesterol. Altogether, our results highlight the impact of low-frequency variants in complex traits and show that imputation offers a cost-effective alternative to resequencing.

With the dimensional shift, personality pathology is now commonly conceptualized using a combination of personality functioning and (pathological) personality traits. Personality functioning has been deemed more sensitive to treatment than the specific trait combination of personality problems. To empirically examine just that, the goal of this pilot study was to simultaneously compare changes in personality functioning (LPFS-BF 2.0), pathological traits (PID-5-BF), and normal-range traits (BFI-2) among individuals receiving integrative, dynamic-relational psychotherapy (baseline n = 52, follow-up n = 31) and a matched control group (n = 31). The results showed that clients had stronger changes in personality functioning than in traits when compared to the control group. In addition, clients lower on personality functioning were more inclined to drop-out of therapy. This study points to the unique clinical utility of personality functioning and provides a foundation for future research focusing on the sensitivity of personality functioning and personality traits to changes within the context of psychotherapy.

GOLD 2023 defines an exacerbation of COPD (ECOPD) by a deterioration of breathlessness at rest (BaR), mucus and cough. The severity of an ECOPD is determined by the degree of BaR, ranging from 0 to 10. However, it is not known which symptom is the most important one to detect early of an ECOPD, and which symptom that predicts future ECOPDs best. Thus, the purpose of the present study was to find out which symptom is the most important one to monitor. We analysed data on COPD symptoms from the telehealth study The eHealth Diary. Frequent exacerbators (n = 27) were asked to daily monitor BaR and breathlessness at physical activity (BaPA), mucus and cough, employing a digital pen and symptom scales (0-10). Twenty-seven patients with 105 ECOPDs were analysed. The association between symptom development and the occurrence of exacerbations was evaluated using the Andersen-Gill formulation of the Cox proportional hazards model for the analysis of recurrent time-to-event data with time-varying predictors. According to the criteria proposed by GOLD 2023, 42% ECOPDs were mild, 48% were moderate and 5% were severe, while 6% were undefinable. Mucus and cough improved over study time, while BaR and BaPA deteriorated. Mucus appeared earliest, which was the most prominent feature of the average exacerbation, and worsening of mucus increased the risk for a future ECOPD. There was a 58% increase in the risk of exacerbation per unit increase in mucus score. This study suggests that mucus worsening is the most important COPD symptom to monitor to detect ECOPDs early and to predict future risk för ECOPDs. In the present study, we also noticed a pronounced difference between GOLD 2022 and 2023. Hence, GOLD 2023 defined the ECOPD severity much lower than GOLD 2022 did.

Reference panels from the 1000 Genomes (1000G) Project Consortium provide near complete coverage of common and low-frequency genetic variation with minor allele frequency ≥0.5% across European ancestry populations. Within the European Network for Genetic and Genomic Epidemiology (ENGAGE) Consortium, we have undertaken the first large-scale meta-analysis of genome-wide association studies (GWAS), supplemented by 1000G imputation, for four quantitative glycaemic and obesity-related traits, in up to 87,048 individuals of European ancestry. We identified two loci for body mass index (BMI) at genome-wide significance, and two for fasting glucose (FG), none of which has been previously reported in larger meta-analysis efforts to combine GWAS of European ancestry. Through conditional analysis, we also detected multiple distinct signals of association mapping to established loci for waist-hip ratio adjusted for BMI (RSPO3) and FG (GCK and G6PC2). The index variant for one association signal at the G6PC2 locus is a low-frequency coding allele, H177Y, which has recently been demonstrated to have a functional role in glucose regulation. Fine-mapping analyses revealed that the non-coding variants most likely to drive association signals at established and novel loci were enriched for overlap with enhancer elements, which for FG mapped to promoter and transcription factor binding sites in pancreatic islets, in particular. Our study demonstrates that 1000G imputation and genetic fine-mapping of common and low-frequency variant association signals at GWAS loci, integrated with genomic annotation in relevant tissues, can provide insight into the functional and regulatory mechanisms through which their effects on glycaemic and obesity-related traits are mediated.

Elderly patients with advanced stages of COPD or chronic heart failure (CHF) often require hospitalization due to exacerbations. We hypothesized that telemonitoring supported by hospital-based home care (HBHC) would detect exacerbations early, thus, reducing the number of hospitalization. We also speculated that patients with advanced COPD or CHF would present differences regarding exacerbation frequency and the need of HBHC. The Health Diary system, based on digital pen technology, was employed. Patients aged ≥65 years with ≥2 hospitalizations the previous year were included. Exacerbations were categorized and treated as either COPD or CHF exacerbation by an experienced physician. All HBHC contacts (home visits or telephone consultations) were registered. Ninety-four patients with advanced diseases were enrolled (36 COPD and 58 CHF subjects) of which 53 subjects (19 COPD and 34 CHF subjects) completed the 1-year study period. Death was the major reason for not finalizing the study. Compared to the 1-year prior inclusion, the intervention significantly reduced hospitalization. Although COPD subjects were younger with less comorbidity, exacerbations and HBHC contacts were significantly greater in this group. COPD subjects exhibit exacerbations more frequently, mainly due to disease characteristics, thus, demanding much more HBHC.