Use of Metadata-Driven Approaches for Data Harmonization in the Medical Domain: Scoping Review.

Background: Multisite clinical studies are increasingly using real-world data to gain real-world evidence. However, due to the heterogeneity of source data, it is difficult to analyze such data in a unified way across clinics. Therefore, the implementation of Extract-Transform-Load (ETL) or Extract-Load-Transform (ELT) processes for harmonizing local health data is necessary, in order to guarantee the data quality for research.

Pharmacological Improvement of Cystic Fibrosis Transmembrane Conductance Regulator Function Rescues Airway Epithelial Homeostasis and Host Defense in Children with Cystic Fibrosis.

Pharmacological improvement of cystic fibrosis transmembrane conductance regulator (CFTR) function with elexacaftor/tezacaftor/ivacaftor (ETI) provides unprecedented improvements in lung function and other clinical outcomes in patients with cystic fibrosis (CF). However, ETI effects on impaired mucosal homeostasis and host defense at the molecular and cellular levels in the airways of patients with CF remain unknown. To investigate effects of ETI on the transcriptome of nasal epithelial and immune cells from children with CF at the single-cell level.

Impact of COVID-19 lockdown on hospital admissions for epistaxis in Germany.

Background: Reports of a decrease in hospital admissions during the coronavirus disease 2019 (COVID-19) lockdown period have raised concerns about delayed or missed diagnoses and treatments for non-COVID-19-related illnesses.

Aim: To investigate the impact of the COVID-19 pandemic-induced lockdown and its end on hospital admissions of patients with epistaxis in Germany.

Methods: A retrospective analysis based on the national database of the Hospital Remuneration System was used to compare hospital admissions during defined time periods between 2019 and 2022 with the lockdown period as the reference period.

Evaluation of Modeling Approaches for a Clinical Data Warehouse in a Highly Dynamic Environment.

The availability of clinical data for researchers is crucial for an improvement of healthcare and research. For this purpose, the integration, harmonization and standardization of healthcare-data from various sources in a clinical data warehouse (CDWH) is highly relevant. Our evaluation taking into account the general conditions and requirements of the project, led us to choose the Data Vault approach for the development of a clinical data warehouse at the University Hospital Dresden (UHD).

An integrated tumor, immune and microbiome atlas of colon cancer.

The lack of multi-omics cancer datasets with extensive follow-up information hinders the identification of accurate biomarkers of clinical outcome. In this cohort study, we performed comprehensive genomic analyses on fresh-frozen samples from 348 patients affected by primary colon cancer, encompassing RNA, whole-exome, deep T cell receptor and 16S bacterial rRNA gene sequencing on tumor and matched healthy colon tissue, complemented with tumor whole-genome sequencing for further microbiome characterization. A type 1 helper T cell, cytotoxic, gene expression signature, called Immunologic Constant of Rejection, captured the presence of clonally expanded, tumor-enriched T cell clones and outperformed conventional prognostic molecular biomarkers, such as the consensus molecular subtype and the microsatellite instability classifications.

Technical assessment of different extraction methods and transcriptome profiling of RNA isolated from small volumes of blood.

Transcriptome profiling of human whole blood is used to discover biomarkers of diseases and to assess phenotypic traits. Recently, finger-stick blood collection systems have allowed a less invasive and quicker collection of peripheral blood. Such non-invasive sampling of small volumes of blood offers practical advantages.

Transcriptome Profile Identifies Actin as an Essential Regulator of Cardiac Myosin Binding Protein C3 Hypertrophic Cardiomyopathy in a Zebrafish Model.

Variants in cardiac myosin-binding protein C (cMyBP-C) are the leading cause of inherited hypertrophic cardiomyopathy (HCM), demonstrating the key role that cMyBP-C plays in the heart's contractile machinery. To investigate the HCM-related cardiac impairment, we generated a zebrafish -knockout model. These knockout zebrafish displayed significant morphological heart alterations related to a significant decrease in ventricular and atrial diameters at systolic and diastolic states at the larval stages.

A 3D transcriptomics atlas of the mouse nose sheds light on the anatomical logic of smell.

The sense of smell helps us navigate the environment, but its molecular architecture and underlying logic remain understudied. The spatial location of odorant receptor genes (Olfrs) in the nose is thought to be independent of the structural diversity of the odorants they detect. Using spatial transcriptomics, we create a genome-wide 3D atlas of the mouse olfactory mucosa (OM).

Choline Kinetics in Neonatal Liver, Brain and Lung-Lessons from a Rodent Model for Neonatal Care.

Choline requirements are high in the rapidly growing fetus and preterm infant, mainly serving phosphatidylcholine (PC) synthesis for parenchymal growth and one-carbon metabolism via betaine. However, choline metabolism in critical organs during rapid growth is poorly understood. Therefore, we investigated the kinetics of D9-choline and its metabolites in the liver, plasma, brain and lung in 14 d old rats.

Real-Time SARS-CoV-2 Genotyping by High-Throughput Multiplex PCR Reveals the Epidemiology of the Variants of Concern in Qatar.

Complementing whole genome sequencing strategies with high-throughput multiplex RT-qPCR genotyping allows for more comprehensive and real-time tracking of SARS-CoV-2 variants of concern. During the second and third waves of COVID-19 in Qatar, PCR genotyping, combined with Sanger sequencing of un-typeable samples, was employed to describe the epidemiology of the Alpha, Beta and Delta variants. A total of 9792 nasopharyngeal PCR-positive samples collected between April-June 2021 were successfully genotyped, revealing the importation and transmission dynamics of these three variants in Qatar.

Global temperature modes shed light on the Holocene temperature conundrum.

Reconstructions of the global mean annual temperature evolution during the Holocene yield conflicting results. One temperature reconstruction shows global cooling during the late Holocene. The other reconstruction reveals global warming.

Combined Genome and Transcriptome (G&T) Sequencing of Single Cells.

The simultaneous examination of a single cell's genome and transcriptome presents scientists with a powerful tool to study genetic variability and its effect on gene expression. In this chapter, we describe the library generation method for combined genome and transcriptome sequencing (G&T-seq) originally described by Macaulay et al. (Nat Protoc 11(11):2081-2103, 2016; Nat Methods 12(6):519-522, 2015).

Surgical treatment of two adolescent athletes with dislocated avulsion fracture of the anterior superior iliac spine (ASIS).

Introduction: Avulsion fractures of the anterior superior iliac spine are rare. Therefore, evidence-based treatment guidelines do not exist. The therapeutic options are either conservative treatment or surgical intervention.

Meniscal injuries in children and adolescents undergoing surgical treatment for tibial eminence fractures.

Purpose: To prospectively evaluate the prevalence and characteristics of meniscal injuries in children and adolescents undergoing surgical treatment for tibial eminence fractures and to test for possible relationships between associated meniscal lesions and patient demographics or injury characteristics.

Methods: A prospective multicenter study was conducted to arthroscopically assess the prevalence and characteristics of meniscal injuries in children and adolescents undergoing surgical treatment for tibial eminence fractures between 04/2014 and 10/2015. Patient demographics and injury characteristics were assessed preoperatively.

Pan-Bcl-2 inhibitor Obatoclax is a potent late stage autophagy inhibitor in colorectal cancer cells independent of canonical autophagy signaling.

Background: Colorectal cancer is the third most common malignancy in humans and novel therapeutic approaches are urgently needed. Autophagy is an evolutionarily highly conserved cellular process by which cells collect unnecessary organelles or misfolded proteins and subsequently degrade them in vesicular structures in order to refuel cells with energy. Dysregulation of the complex autophagy signaling network has been shown to contribute to the onset and progression of cancer in various models.

The Munich Knee Questionnaire: Development and Validation of a New Patient-Reported Outcome Measurement Tool for Knee Disorders.

Purpose: To develop and validate an all-purpose patient-reported outcome questionnaire for a patient-based follow-up examination regarding knee disorders.

Methods: Each scale of the Knee Injury and Osteoarthritis Outcome Score (KOOS), International Knee Documentation Committee (IKDC) score, Lysholm knee score, Western Ontario Meniscal Evaluation Tool (WOMET) score, and Tegner score was analyzed, and after matching of the general topics, the dedicated items underwent a fusion to the final Munich Knee Questionnaire (MKQ) item and a score comprising 33 items was created. In a prospective clinical study, we evaluated validity, reliability, and responsiveness in 152 physical active patients (75 women and 77 men; mean age, 47 years) with traumatic as well as degenerative knee disorders.

Novel technique for sternoclavicular joint reconstruction using a gracilis tendon autograft.

Unlabelled: Surgical treatment of sternoclavicular joint instability can be challenging and carries the inherent risk of damaging vital structures if the posterior capsule is violated during surgery. In the current manuscript, a novel and easy technique for open reduction and tendon graft stabilization of the unstable sternoclavicular joint is presented. Analogous to other techniques, the graft is passed through drill holes in a figure-of-eight configuration.

Does fibrin clot really enhance graft healing after double-bundle ACL reconstruction in a caprine model?

Purpose: Graft healing following anterior cruciate ligament (ACL) reconstruction is a complex process characterized by phases of healing that lead to ACL remodelling. Our hypothesis is that fibrin clot addition to ACL reconstruction will result in advanced graft remodelling and healing when compared to a control group at 12 weeks as observed by histology, immunohistochemistry and magnetic resonance imaging (MRI).

Methods: Eleven Spanish Boar goats underwent double-bundle ACL reconstruction: 8 were analysed and 3 were excluded.

Dynamic quantification of tibio-femoral rotation in postero-lateral bundle insufficiency of the anterior cruciate ligament: a cadaver study.

Purpose: Anterior cruciate ligament (ACL) injury represents one of the most common diagnoses in orthopaedic sports medicine. In the past, anatomic knowledge about the different bundles within the cruciate ligaments triggered new treatment concepts, such as double-bundle ACL reconstruction. Recently, besides complete tearing, partial ACL ruptures and bundle augmentation became a focus.

Pan-Bcl-2 inhibitor obatoclax delays cell cycle progression and blocks migration of colorectal cancer cells.

Despite the fact that new treatment regimes have improved overall survival of patients challenged by colorectal cancer (CRC), prognosis in the metastatic situation is still restricted. The Bcl-2 family of proteins has been identified as promising anti cancer drug target. Even though small molecules targeting Bcl-2 proteins are in clinical trials, little is known regarding their effects on CRC.

Influence of tibial rotation on tibial tunnel position measurements using lateral fluoroscopy in anterior cruciate ligament reconstruction.

Purpose: The purpose of the current study was to evaluate the influence of internal and external knee rotation on tibial tunnel position measurements in anterior cruciate ligament reconstruction using the Amis and Jakob line.

Methods: Anatomic double bundle ACL reconstruction was performed in seven cadaveric knees. Afterwards, the knees were CT scanned, and 3D CT models were established.

Beyond cell death - antiapoptotic Bcl-2 proteins regulate migration and invasion of colorectal cancer cells in vitro.

Migration and invasion of malignant cells are prerequisites for cancer progression and metastasis. The Bcl-2 family of proteins consists of about 25 members and has been extensively studied in the context of apoptosis. Despite the fact that small molecules targeting Bcl-2 proteins have already entered clinical trials, very few studies investigated a role of antiapoptotic Bcl-2 proteins beside cell death in the context of metastasis.

Meniscectomy leads to early changes in the mineralization distribution of subchondral bone plate.

Purpose: It is generally recognized that the subchondral bone plate (SBP) is involved in development of osteoarthritis (OA). However, the pathophysiological significance is not yet clear. The goal of this study is to investigate the extent of the changes that occur in SBP of the tibial plateau in the early stages of experimental OA.