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.
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.
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.
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 PDFBackground: 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 PDFAutosomal 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 PDFBackground: 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.
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.
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 PDFVenous 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 PDFIntroduction: 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 PDFBackground 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 PDFBackground/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.
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.
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 PDFPurpose: 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).