Transcriptome and DNA methylation profiling during the NSN to SN transition in mouse oocytes.

Background: During the latter stages of their development, mammalian oocytes under dramatic chromatin reconfiguration, transitioning from a non-surrounded nucleolus (NSN) to a surrounded nucleolus (SN) stage, and concomitant transcriptional silencing. Although the NSN-SN transition is known to be essential for developmental competence of the oocyte, less is known about the accompanying molecular changes. Here we examine the changes in the transcriptome and DNA methylation during the NSN to SN transition in mouse oocytes.

"We are doing it together, don't worry" - A qualitative study on the implementation of electronic medical records in German hospitals.

Background: The ongoing implementation of electronic medical records (EMRs) in German hospitals is currently slow. Implementation science widely acknowledges the barriers and facilitators to implementation. Thus, specific preconditions are necessary to address the former and to support an effective EMR implementation.

Basic Science and Pathogenesis.

Background: Worldwide, the actual number of 55 million people diagnosed with dementia is estimated to increase to 139 million people affected by dementia in 2050. 61% of these individuals resided in low and middle-income countries (LMIC). Genetic risk factors account for up to 80% of the attributable risk of Alzheimer's disease (AD), the leading cause of dementia.

Clinical Manifestations.

Background: Anti-amyloid beta (Aβ) immunotherapies have recently evolved as promising treatment options in patients with early symptomatic Alzheimer's disease (AD). Meanwhile, accurate patient selection for these treatments might be challenging mirrored by strict selection criteria of the hitherto published clinical trials. Based on a real-world tertiary care sample of post-mortem validated cases, we aimed to identify the patients matching these selection criteria and their proportion showing post-mortem AD pathology.

Optimising (re-)irradiation for locally recurrent head and neck cancer: impact of dose-escalation, salvage surgery, PEG tube and biomarkers on oncological outcomes-a single centre analysis.

Introduction: Locoregional recurrence (LR) is common in locally advanced head and neck cancer (HNSCC), posing challenges for treatment. We analysed outcome parameters and toxicities for patients being treated with radiotherapy (RT) for LR-HNSCC and investigated patient and disease related prognostic factors in this prognostically unfavourable group.

Methods: This analysis includes 101 LR-HNSCC patients treated with RT, radio-chemotherapy (RCT) or radio-immunotherapy (RIT) between 2010 and 2018 at a high-volume tertiary centre.

Risk factors analysis and nomogram for predicting recurrence in periocular basal cell carcinoma.

Objectives: Aim to develop a nomogram to effectively predict the potential for recurrence after surgical resection in patients with periocular basal cell carcinoma (BCC).

Methods: We conducted a retrospective study involving 329 patients with eyelid BCC. Univariate and multivariate Cox proportional risk regression was used to screen for independent factors affecting BCC recurrence.

Evaluation of early metabolic changes following vorasidenib using FET PET in patients with -mutant gliomas.

The phase-3 INDIGO trial demonstrated that the isocitrate dehydrogenase () inhibitor vorasidenib significantly prolonged progression-free survival and delayed intervention in patients with CNS WHO grade 2 gliomas. However, conventional MRI showed limited response, with only 11% of patients having objective responses. Studies suggest that serial PET imaging with radiolabeled amino acids, such as -(2-[ F]-fluoroethyl)-L-tyrosine (FET) PET, may provide earlier and more informative assessments of treatment response than MRI.

Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction.

Background: The 313-variant polygenic risk score (PRS) provides a promising tool for clinical breast cancer risk prediction. However, evaluation of the PRS across different European populations which could influence risk estimation has not been performed.

Methods: We explored the distribution of PRS across European populations using genotype data from 94,072 females without breast cancer diagnosis, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 223,316 females without breast cancer diagnosis from the UK Biobank.

Fatal dengue virus infection in an unvaccinated traveler.

Dengue is an increasing threat to individuals living in or visiting endemic countries. Effective vaccines have become available, but their use in travelers is typically only recommended to individuals with documented prior infection. We present a fatal case of severe dengue in an unvaccinated traveler without known prior dengue virus infection but longitudinal serologic and molecular evidence for secondary infection.

Global incidence and prevalence in uveal melanoma.

Purpose: The most common intraocular cancer in adults is uveal melanoma (UM). This study aimed to investigate and report the incidence and prognosis of UM in different regions of the world.

Methods: We retrieved relevant data on UM from the PubMed database and analyzed its global incidence and prognosis.

Specialist training in infectious diseases in Europe.

Objectives: The objectives were to determine the structure of training programmes and assessment of physicians training to become infectious disease (ID) specialists in Europe in early 2024, and to document the provision of specialists, trainees and training centres in each country.

Methods: Delegates to the ID Section and Board of the European Union of Medical Specialists (UEMS) entered national data on a web-based survey tool in late 2023-early 2024. Results were compared to UEMS recommendations on the structure and content of postgraduate training in ID in Europe (2018), and to results of a similar survey in early 2021.

Dual-layer dual-energy CT characterization of thrombus composition in acute pulmonary embolism and chronic thromboembolic pulmonary hypertension.

To evaluate dual-layer dual-energy computed tomography (dlDECT)-based characterization of thrombus composition for differentiation of acute pulmonary embolism (PE) and chronic thromboembolic pulmonary hypertension (CTEPH). This retrospective single center cohort study included 49 patients with acute PE and 33 patients with CTEPH who underwent CT pulmonary angiography on a dlDECT from 06/2016 to 06/2022. Conventional images), material specific images (virtual non-contrast [VNC], iodine density overlay [IDO], electron density [ED]), and virtual monoenergetic images (VMI) were analyzed.

Systematic assessment of COVID-19 host genetics using whole genome sequencing data.

Courses of SARS-CoV-2 infections are highly variable, ranging from asymptomatic to lethal COVID-19. Though research has shown that host genetic factors contribute to this variability, cohort-based joint analyses of variants from the entire allelic spectrum in individuals with confirmed SARS-CoV-2 infections are still lacking. Here, we present the results of whole genome sequencing in 1,220 mainly vaccine-naïve individuals with confirmed SARS-CoV-2 infection, including 827 hospitalized COVID-19 cases.

Respiratory Viruses in Patients With Hematological Malignancy in Boreal Autumn/Winter 2023-2024: EPICOVIDEHA-EPIFLUEHA Report.

Community-acquired respiratory viral infections (CARV) significantly impact patients with hematological malignancies (HM), leading to high morbidity and mortality. However, large-scale, real-world data on CARV in these patients is limited. This study analyzed data from the EPICOVIDEHA-EPIFLUEHA registry, focusing on patients with HM diagnosed with CARV during the 2023-2024 autumn-winter season.

Visual quality of life in NMOSD and MOGAD: profiles, dynamics and associations with ageing and vision.

Objective: In this multicentric study, we were interested in the vision-related quality of life and its association with visual impairment in neuromyelitis optica spectrum disorders (NMOSD) and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) in comparison to multiple sclerosis (MS) and healthy controls.

Methods: We analysed extracted data from the German NEMOS registry including National Eye Institute Visual Function Questionnaire (NEI-VFQ) scores, high and low contrast visual acuity (HCVA, LCVA), visually evoked potentials (VEP) and the scores for the expanded disability status scale (EDSS) and other neurological tests which assessed their disease-related impairment. The mean follow-up time of our patients was 1.

Age-associated changes in transcriptional elongation and their effects on homeostasis.

Cellular homeostasis declines with age due to the declining fidelity of biosynthetic processes and the accumulation of molecular damage. Yet, it remains largely elusive how individual processes are affected during aging and what their specific contribution to age-related functional decline is. This review discusses a series of recent publications that has shown that transcription elongation is compromised during aging due to increasing DNA damage, stalling of RNA polymerase II (RNAPII), erroneous transcription initiation in gene bodies, and accelerated RNAPII elongation.

Correlation Between Progression-Free and Overall Survival in Patients with Hodgkin Lymphoma: A Comprehensive Analysis of Individual Patient Data from Randomized GHSG Trials.

Background: We aimed to evaluate the correlation of progression-free (PFS) and overall survival (OS) after first-line treatment of classical Hodgkin lymphoma (HL) and the potential of PFS to serve as a surrogate parameter for OS.

Patients And Methods: We analyzed individual patient data obtained during and after treatment with polychemotherapy within nine randomized phase III trials (GHSG HD7-HD15) between 01/93 - 08/18. Effects of 16 experimental treatments on PFS and OS on trial level were evaluated by estimation of the treatment effects with Cox proportional hazards (PH) regression and a linear weighted least squares regression.

Fibre type differences in the organisation of mononuclear cells and myonuclei at the tips of human myofibres.

The myotendinous junction (MTJ) is a weak link in the musculoskeletal system. Here, we isolated the tips of single myofibres from healthy human hamstring muscles for confocal microscopy (n=6) and RNAscope in situ hybridisation (n=6) to gain insight into the profiles of cells and myonuclei in this region, in a fibre type manner. A marked presence of mononuclear cells was observed coating the myofibre tips (confirmed by serial block face scanning electron microscopy and cryosection immunofluorescence), with higher numbers for type I (median 29; range 16-63) than type II (16; 9-23) myofibres (p<0.

Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models.

Orofacial clefting (OFC) is a frequent congenital anomaly and can occur either in the context of underlying syndromes or in isolation (nonsyndromic). The two common OFC phenotypes are cleft lip with/without cleft palate (CL/P) and cleft palate only (CPO). In this study, we searched for penetrant CL/P genes, by evaluating de novo copy number variants (CNV) from an exome sequencing dataset of 50 nonsyndromic patient-parent trios.

SGLT2-Inhibition in Patients With Alport Syndrome.

Introduction: Large-scale trials showed positive outcomes of sodium-glucose cotransporter-2 inhibitors (SGLT2i) in adults with chronic kidney disease (CKD). Whether the use of SGLT2i is safe and effective in patients with the common hereditary CKD Alport syndrome (AS) has not yet been investigated specifically in larger cohorts.

Methods: This observational, multicenter, international study (NCT02378805) assessed 112 patients with AS after start of SGLT2i.

Editorial: From adolescence into young adulthood - the importance of a longitudinal perspective across development in child and adolescent mental health.

The transition from adolescence into adulthood is a pivotal phase in a person's life, marking a period of significant social, psychological, and biological changes that can profoundly impact an individual's well-being and developmental trajectory. During this period, adolescents and young adults face increasing environmental demands from academic or occupational responsibilities and social interactions, including the pursuit of romantic partners. These changes are inherently related to stress, which is essential for adolescents and young adults to develop their personality and form an identity.

Comparison of Pain and Functional Outcomes Among Geriatric and Nongeriatric Adults Following Full Endoscopic Spine Surgery for Degenerative Lumbar Pathology.

Background: Full endoscopic spine surgery (FESS) champions a rapid recovery and a low rate of overall complications. However, its efficacy in geriatric patients that might yield additional benefits from minimized invasiveness remains underexplored.

Methods: A multi-institutional prospective cohort study was conducted involving patients undergoing elective lumbar FESS.

Molecular identification and characterization of waterborne protozoa among stranded Dugong dugon.

The Persian Gulf hosts the second-largest population of Dugongs. The International Union for the Conservation of Nature (IUCN) lists them as Vulnerable to Extinction species. Incidental fishing, vessel strikes, environmental pollution, habitat degradation, and infectious diseases currently threaten these sirenians.