Publications by authors named "Eberhardt R"

Background: In COPD patients with severe right-sided emphysema, complete major and incomplete minor fissure, implantation of one-way valves in both the right upper (RUL) and middle lobes (ML) is a possible approach for endoscopic lung volume reduction. The aim of this retrospective analysis was to evaluate the response to therapy and the complication rate at 90 days (90d-FU) after combined RUL-ML valve implantation.

Methods: This retrospective, monocentric study included all patients from the Thoraxklinik Heidelberg who underwent RUL-ML valve treatment between 2012 and 2023 with available follow-up data.

View Article and Find Full Text PDF

Purpose: Structural variants such as multiexon deletions and duplications are an important cause of disease but are often overlooked in standard exome/genome sequencing analysis. We aimed to evaluate the detection of copy-number variants (CNVs) from exome sequencing (ES) in comparison with genome-wide low-resolution and exon-resolution chromosomal microarrays (CMAs) and to characterize the properties of de novo CNVs in a large clinical cohort.

Methods: We performed CNV detection using ES of 9859 parent-offspring trios in the Deciphering Developmental Disorders (DDD) study and compared them with CNVs detected from exon-resolution array comparative genomic hybridization in 5197 probands from the DDD study.

View Article and Find Full Text PDF

Unlabelled: Bronchoscopy has changed considerably in recent years as a result of technical innovations and health economic pressure. There is little current information available on the reality of bronchoscopy care in Germany.

Methodology: In September 2022, sites where bronchoscopy was carried out were systematically surveyed regarding structural and process quality features in an anonymized DGP survey with 33 questions.

View Article and Find Full Text PDF

Bronchoscopy courses should be an integral part of bronchoscopy training. Course graduates should be familiar with the indications, prerequisites and technical possibilities of bronchoscopy. In addition to theoretical content, practical bronchoscopic skills are taught and trained in small supervised groups using various methods of simulation-based bronchoscopy training.

View Article and Find Full Text PDF

Background: Established structured weaning approaches, which are effective for patients in simple and difficult weaning, are often not appropriate for patients undergoing prolonged weaning. Addressing the complexity of weaning failure requires personalized precision medicine. The therapeutic concept of treatable traits (TTs) has been proposed as a new paradigm for the management of chronic respiratory diseases.

View Article and Find Full Text PDF
Article Synopsis
  • - The study aimed to evaluate tracheal collapsibility using low-dose 4D CT, comparing the results with traditional methods like inspiratory-expiratory CT and bronchoscopy in patients suspected of tracheal collapse.
  • - Researchers analyzed 4D CT scans from 52 patients, finding that 48% exhibited significant tracheal collapsibility (50% or greater) and noted differences between visual 4D CT assessments and other diagnostic methods regarding detection rates of collapsibility.
  • - Results showed that 4D CT was superior in identifying patients with severe collapsibility compared to both paired CT and bronchoscopy, with significant differences in collapsibility measurements between the groups assessed.
View Article and Find Full Text PDF

Autosomal recessive coding variants are well-known causes of rare disorders. We quantified the contribution of these variants to developmental disorders in a large, ancestrally diverse cohort comprising 29,745 trios, of whom 20.4% had genetically inferred non-European ancestries.

View Article and Find Full Text PDF

Background: To date there are no data on sex aspects evaluating outcomes of interventional pneumology (IP). Our aim was to investigate sex differences in transbronchial lung cryobiopsy (TBLC) outcomes in the diagnosis of interstitial lung disease (ILD).

Methods: All consecutive (TBLC)s performed for ILD evaluation between Nov 17 and Dec 21 at a tertiary referral center for ILDs and IP were analyzed.

View Article and Find Full Text PDF
Article Synopsis
  • * Results indicated slight improvements in lung function measurements (FEV and RV) and a significant increase in walking distance, with some patients experiencing atelectasis and a manageable risk of complications.
  • * The findings suggest that simultaneous implantation of both valve types leads to meaningful clinical benefits and is a viable treatment option for patients with severe emphysema.
View Article and Find Full Text PDF

Background: Polyvascular disease is strongly associated with increased risk of cardiovascular morbidity and mortality. However, its prevalence in patients undergoing carotid and lower extremity surgical revascularization and its impact on outcomes are unknown.

Methods: The Vascular Quality Initiative was queried for carotid endarterectomy (CEA) or infrainguinal lower extremity bypass (LEB), 2013-2019.

View Article and Find Full Text PDF

Recent work has revealed an important role for rare, incompletely penetrant inherited coding variants in neurodevelopmental disorders (NDDs). Additionally, we have previously shown that common variants contribute to risk for rare NDDs. Here, we investigate whether common variants exert their effects by modifying gene expression, using multi-cis-expression quantitative trait loci (cis-eQTL) prediction models.

View Article and Find Full Text PDF
Article Synopsis
  • * Common symptoms of PAD, like claudication and chronic limb-threatening ischemia, significantly reduce a person's ability to function and diminish their quality of life.
  • * Current treatments aim to ease symptoms, enhance life quality, and prevent serious cardiovascular issues, consisting of various medications, exercise programs, and lifestyle changes like quitting smoking.
View Article and Find Full Text PDF
Article Synopsis
  • The German healthcare system aims to shift patient care from inpatient to outpatient services, particularly in pulmonology for endoscopic procedures.
  • A committee identified suitable outpatient endoscopic procedures and calculated the costs based on official data for 2022, considering various methodologies.
  • The findings suggest that transitioning to outpatient endoscopic services is both feasible and essential, with calculated costs providing a foundation for reimbursement and ensuring quality care for pneumology patients.
View Article and Find Full Text PDF

Venous thromboembolism (VTE) risk is increased in patients infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). A key question was whether increased intensity of anticoagulation would help prevent VTE and improve patient outcomes, including transfer to the intensive care unit (ICU) and mortality. At the start of the coronavirus disease-19 (COVID-19) pandemic, our institution, Boston Medical Center, instituted a VTE risk stratification protocol based on patients' initial D-dimer levels, medical history, and presence of thrombosis to determine whether they should receive standard-dose prophylaxis, high-dose prophylaxis, or therapeutic anticoagulation.

View Article and Find Full Text PDF

Introduction: Today, the increasing number of incidentally detected peripheral pulmonary lesions (PPLs) within and outside lung cancer screening trials is a diagnostic challenge. This fact encourages further improvement of diagnostic procedures to increase the diagnostic yield of transbronchial biopsy, which has been shown to have a low complication rate. The purpose of this study was to evaluate the safety and feasibility of a new ultrathin 1.

View Article and Find Full Text PDF
Article Synopsis
  • This study explored the link between severe chronic obstructive pulmonary disease (COPD) and oral health issues, focusing on shared risk factors.
  • It involved 104 participants, comparing 52 with severe COPD and 52 without, assessing their dental health and quality of life using a specific questionnaire.
  • Results showed COPD patients had fewer teeth, higher rates of dental decay, deeper gum pockets, and worse oral health-related quality of life compared to controls, alongside poorer general risk factors like education and dental care habits.
View Article and Find Full Text PDF

Background And Objective: Exacerbations drive the progression of chronic obstructive pulmonary disease (COPD). Endoscopic lung volume reduction (ELVR) with valves is an established treatment option for patients with severe emphysema. Post-interventional exacerbations are observed in 8-17% of cases.

View Article and Find Full Text PDF
Article Synopsis
  • There is limited data on current trends in the use of advanced therapies for pulmonary embolism (PE) in the U.S. and patient outcomes for acute PE.
  • A study analyzed data from the Nationwide Readmissions Database (2016-2020), finding increased use of advanced therapies, especially systemic thrombolytics and catheter-directed treatments, alongside a rise in high-risk PE diagnoses.
  • Although the use of certain treatments like inferior vena cava filters decreased, overall mortality rates remained stable, and the rate of 90-day unplanned readmissions showed improvement.
View Article and Find Full Text PDF

Background/aims: Hypoxemia is a common side effect of propofol sedation during endoscopy. Applying mild positive airway pressure (PAP) using a nasal mask may offer a simple way to reduce such events and optimize the conditions for diagnostic and therapeutic upper gastrointestinal endoscopies.

Methods: We compared overweight patients (body mass index >25 kg/m2) with a nasal PAP mask or standard nasal cannula undergoing upper gastrointestinal endoscopies by non-anesthesiologists who provided propofol sedation.

View Article and Find Full Text PDF
Article Synopsis
  • The melanocortin 3 receptor (MC3R) is important for regulating puberty, growth, and lean mass, and its variants may affect pubertal timing in humans.
  • The study aimed to find how often harmful MC3R variants occur in patients with constitutional delay of growth and puberty (CDGP) compared to those with normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
  • Results showed that MC3R loss-of-function variants were more common in CDGP patients, but not in those with nIHH, and such variants were also linked to delayed menarche in a broader UK Biobank cohort.
View Article and Find Full Text PDF
Article Synopsis
  • Up to 41% of patients with endobronchial valve implants require revision procedures due to valve dysfunction or lack of benefit, but it remains unclear if replacements actually achieve desired lung improvements.
  • A study of 73 patients who underwent revision procedures assessed outcomes like lung function and exercise capacity, finding that about one-third experienced benefits, with 26% achieving complete lung collapse and 56% showing lung volume reduction.
  • The study identified that previous lung collapse (lobar atelectasis) significantly predicts the likelihood of re-collapsing and that careful consideration is essential before deciding on revision bronchoscopy.
View Article and Find Full Text PDF

Background: Pediatric disorders include a range of highly penetrant, genetically heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a molecular diagnosis is challenging but can have profound lifelong benefits.

Methods: We conducted a large-scale sequencing study involving more than 13,500 families with probands with severe, probably monogenic, difficult-to-diagnose developmental disorders from 24 regional genetics services in the United Kingdom and Ireland.

View Article and Find Full Text PDF

Objective: Use of autologous great saphenous vein (GSV) grafts for repair of extremity arterial injuries is well established. Contralateral great saphenous vein (cGSV) is traditionally used in the setting of lower extremity vascular injury given the risk of occult ipsilateral superficial and deep venous injury. We evaluated outcomes of ipsilateral GSV (iGSV) bypass in patients with lower extremity vascular trauma.

View Article and Find Full Text PDF

Purpose: Structural mosaicism has been previously implicated in developmental disorders. We aimed to identify rare mosaic chromosomal alterations (MCAs) in probands with severe undiagnosed developmental disorders.

Methods: We identified MCAs in genotyping array data from 12,530 probands in the Deciphering Developmental Disorders study using mosaic chromosome alterations caller (MoChA).

View Article and Find Full Text PDF