Osteogenesis imperfecta: shifting paradigms in pathophysiology and care in children.

The formation of functional bone requires a delicate interplay between osteogenesis and osteolysis. Disturbances in this subtle balance result in an increased risk for fractures. Besides its mechanical function, bone tissue represents a key player in the regulation of calcium homeostasis.

Effect of Acute Hypoxia Exposure on the Availability of A Adenosine Receptors and Perfusion in the Human Brain.

In animal studies it has been observed that the inhibitory neuromodulator adenosine is released into the cerebral interstitial space during hypoxic challenges. Adenosine's actions on the A adenosine receptor (AAR) protect the brain from oxygen deprivation and overexertion through adjustments in cerebral blood flow, metabolism, and electric activity. Using 8-cyclopentyl-3-(3-[F]fluoropropyl)-1-propylxanthine ([F]CPFPX), a PET tracer for the AAR, we tested the hypothesis that hypoxia-induced adenosine release reduces AAR availability in the human brain.

Gender differences in the context of interventions for improving health literacy in migrants: a qualitative evidence synthesis.

Background: Health literacy can be defined as a person's knowledge, motivation and competence in four steps of health-related information processing - accessing, understanding, appraising and applying health-related information. Individuals with experience of migration may encounter difficulties with or barriers to these steps that may, in turn, lead to poorer health outcomes than those of the general population. Moreover, women and men have different health challenges and needs and may respond differently to interventions aimed at improving health literacy.

Cardiovascular disease in adults with osteogenesis imperfecta: Clinical characteristics, care recommendations and research priorities identified using a modified Delphi technique.

Osteogenesis imperfecta (OI) is a multisystem disorder most often caused by pathogenic variants in genes that encode type I collagen. Type I collagen is abundant not only in bone but also in multiple tissues including skin, tendons, cornea, blood vessels and heart. Thus, OI can be expected to affect cardiovascular system, and there are numerous reports of cardiovascular disease (CVD) in people with OI.

Primary retroperitoneal lymph node dissection in clinical stage 2a/b non-seminomatous germ cell tumour.

Objectives: To reassess the role of primary retroperitoneal lymph node dissection (RPLND) in patients with marker-negative non-seminomatous germ cell tumour (NSGCT) clinical stage (CS) 2a, to explore results in patients with CS 2b and to evaluate surgical methods, recurrence, and adjuvant chemotherapy indications.

Materials And Methods: Data from 17 institutions were collected, comprising 305 men who underwent primary RPLND for CS 2 NSGCT. Regression analyses were conducted to predict histology in the RPLND specimen and disease-free survival (DFS).

Self-Rated Symptoms of Oppositional Defiant Disorder and Conduct Disorder: Factor Structure, Reliability, and Validity in a Clinical Sample of Adolescents.

This study examined the psychometric properties of self-rated symptoms of oppositional defiant disorder (ODD) and conduct disorder (CD). We analyzed symptom ratings from a clinical outpatient sample of 658 adolescents aged 11;0-17;11 years diagnosed with ODD/CD and/or attention-deficit hyperactivity disorder. In two steps, we examined the factor structure of ODD models and an additional CD symptom dimension using confirmatory factor analysis (CFA) and exploratory structural equation modeling (ESEM).

Tertiary lymphoid structures in pancreatic cancer are structurally homologous, share gene expression patterns and B-cell clones with secondary lymphoid organs but show increased T-cell activation.

Tertiary lymphoid structures (TLS) in cancer are considered ectopic hotspots for immune activation that are similar to lymphoid follicles in secondary lymphoid organs (SLO). This study elucidates shared and TLS/SLO-specific features in pancreatic ductal adenocarcinoma (PDAC). TLS abundance was related to superior survival and T-cell abundance in 110 treatment-naïve PDAC samples, underlining their clinical relevance.

Changes in tumor and cardiac metabolism upon immune checkpoint.

Cardiovascular disease and cancer are the leading causes of death in the Western world. The associated risk factors are increased by smoking, hypertension, diabetes, sedentary lifestyle, aging, unbalanced diet, and alcohol consumption. Therefore, the study of cellular metabolism has become of increasing importance, with current research focusing on the alterations and adjustments of the metabolism of cancer patients.

Surrogate endpoints in mature B-cell neoplasms - meaningful or misleading?

Indolent mature B-cell neoplasms are a group of diseases in which recent therapeutic advances have led to an improved overall survival (OS) extending beyond several years. While cause of celebration for patients and caregivers, the increasingly long observation periods necessary to capture treatment effects are complicating trial design and possibly hindering swift access to more effective therapies. Surrogate endpoints are a tool with the potential of earlier study readouts, however, their validity needs to be proven in each individual disease and therapeutic setting.

Blood-based quantification of Aβ oligomers indicates impaired clearance from brain in ApoE ε4 positive subjects.

Background: Quantification of Amyloid beta (Aβ) oligomers in plasma enables early diagnosis of Alzheimer's Disease (AD) and improves our understanding of underlying pathologies. However, quantification necessitates an extremely sensitive and selective technology because of very low Aβ oligomer concentrations and possible interference from matrix components.

Methods: In this report, we developed and validated a surface-based fluorescence distribution analysis (sFIDA) assay for quantification of Aβ oligomers in plasma.

Association of anaesthesia-directed sedation with unplanned discharge to a nursing home following non-ambulatory interventional radiology and endoscopic procedures: a retrospective cohort study.

Introduction: Interventional radiology procedures and endoscopies are performed commonly worldwide, often necessitating pharmacological sedation to optimise patient comfort. It is unclear to what extent non-anaesthetists should provide procedural sedation.

Methods: We studied adult patients who previously lived independently and underwent a non-ambulatory interventional radiology or gastroenterology procedure under anaesthetist-directed or non-anaesthetist-directed sedation at a large healthcare network.

Health and socio-demographic background of Ukrainian minors and their families in Germany - challenges for refugee medicine : A cross-sectional study from the German Network University Medicine (NUM).

Unlabelled: In 2022, over 1,000,000 people from Ukraine fled to Germany, mostly women and children. The aim of this study was to determine health status and socio-demographic background of Ukrainian refugee minors in Germany and to compare that to German minors. In this study, Ukrainian refugees of all ages, who voluntarily made contact with the study centres via flyers or refugee shelters, were interviewed with the help of trained interpreters from 09-12/2022.

Semi-mechanistic population pharmacokinetic modeling of DZIF-10c, a neutralizing antibody against SARS-Cov-2: predicting systemic and lung exposure following inhaled and intravenous administration.

DZIF-10c (BI 767551) is a recombinant human monoclonal antibody of the IgG1 kappa isotype. It acts as a SARS-CoV-2 neutralizing antibody. DZIF-10c has been developed for both systemic exposure by intravenous infusion as well as for specific exposure to the respiratory tract by application as an inhaled aerosol generated by a nebulizer.

Developing an instrument to measure the quality of social work cancer counseling regarding return to work - psychometric properties of the German Quality of Cancer Counseling Questionnaire-Return to Work (QCCQ-W).

Purpose: Counseling by social workers can be of great relevance supporting cancer survivors with their psychosocial challenges such as returning to work. However, an instrument for assessing the quality between social worker and client in the cancer counseling setting regarding return to work is not yet available. This study was carried out to develop and validate an instrument for this purpose.

Copy-number dosage regulates telomere maintenance and disease-associated pathways in neuroblastoma.

Telomere maintenance in neuroblastoma is linked to poor outcome and caused by either telomerase reverse transcriptase (TERT) activation or through alternative lengthening of telomeres (ALT). In contrast to TERT activation, commonly caused by genomic rearrangements or MYCN amplification, ALT is less well understood. Alterations at the ATRX locus are key drivers of ALT but only present in ∼50% of ALT tumors.

SiRCle (Signature Regulatory Clustering) model integration reveals mechanisms of phenotype regulation in renal cancer.

Background: Clear cell renal cell carcinoma (ccRCC) tumours develop and progress via complex remodelling of the kidney epigenome, transcriptome, proteome and metabolome. Given the subsequent tumour and inter-patient heterogeneity, drug-based treatments report limited success, calling for multi-omics studies to extract regulatory relationships, and ultimately, to develop targeted therapies. Yet, methods for multi-omics integration to reveal mechanisms of phenotype regulation are lacking.

Full-endoscopic spinal decompression or discectomy show benefits regarding 30-day readmission rates when compared to other spine surgery techniques: a propensity score matched analysis.

Background And Context: Unplanned readmission within 30 days following elective spine surgery is a key indicator of quality of care, as readmissions often signal early complications or poor recovery. The Hospital Readmission Reduction Program (HRRP) and the Centers for Medicare and Medicaid Services (CMS) utilizes this metric to assess hospital and surgeon performance.

Purpose: Here we aim to delineate quality of care metrics for full-endoscopic spine surgery (FESS) compared to traditional spine surgery.

ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches.

Primary intraosseous vascular malformation (VMPI, #606893) is an ultra-rare disorder caused by biallelic pathogenic variants in ELMO2. To date, only six families with pathogenic ELMO2 variants causing a VMPI phenotype have been described. VMPI is characterized by vascular malformations that compress the facial bones, often leading to life-threatening complications, such as massive bleeding and intracranial herniation.