RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.

Purpose: RORA encodes the RAR-related orphan receptor-α (RORα), playing a pivotal role in cerebellar maturation and function. Here, we report the largest series of individuals with RORA-related-neurodevelopmental disorder (RORA-NDD).

Methods: Forty individuals (30 unrelated; 10 siblings from 4 families) carrying RORA pathogenic/likely pathogenic variants were collected through an international collaboration.

An international and multidisciplinary EORTC survey on resectability of stage III non-small cell lung cancer.

Introduction: The EORTC-Lung Cancer Group initiated a Delphi consensus process to establish a consensual definition of resectable stage III non-small cell lung cancer (NSCLC) for the use in clinical trials, including a systematic review, survey, and review of clinical cases. Here, the survey results are presented, aimed to identify areas of controversy.

Methods: A survey was distributed among the members of six international organizations related to lung cancer.

State of the art of CT myocardial perfusion.

Coronary computed tomography angiography (CCTA) is a powerful tool to rule out coronary artery disease (CAD). In the last decade, myocardial perfusion CT (CTP) technique has been developed for the evaluation of myocardial ischemia, thereby increasing positive predictive value for diagnosis of obstructive CAD. A diagnostic strategy combining CCTA and perfusion acquisitions provides both anatomical coronary evaluation and functional evaluation of the stenosis, increasing the specificity and the positive predictive value of cardiac CT.

Early vs Late Anticoagulation After Ischemic Stroke in Patients With Atrial Fibrillation and Covert Brain Infarcts.

Background And Objectives: Covert brain infarcts (CBIs) in patients with first-ever ischemic stroke (IS) and atrial fibrillation (AF) are associated with an increased risk of stroke recurrence. We aimed to assess whether CBIs modify the treatment effect of early vs late initiation of direct oral anticoagulants (DOACs) in patients with IS and AF.

Methods: We conducted a post hoc analysis of the international, multicenter, randomized-controlled ELAN trial, which compared early (<48 hours after ischemic stroke for minor and moderate stroke, 6-7 days for major stroke) vs late (>48 hours for minor, 3-4 days for moderate, 12-14 days for major stroke) initiation of DOACs in patients with IS and AF.

Uneven Distribution of Purkinje Cell Injury in the Cerebellar Vermis of Term Neonates with Hypoxic-Ischemic Encephalopathy.

In term neonates with hypoxic-ischemic encephalopathy (HIE), cerebellar injury is becoming more and more acknowledged. Animal studies demonstrated that Purkinje cells (PCs) are especially vulnerable for hypoxic-ischemic injury. In neonates, however, the extent and pattern of PC injury has not been investigated.

Validation of the GCS-Pupil Scale in Traumatic Brain Injury: Incremental Prognostic Value of Pupillary Reactivity with GCS in the Prospective Observational Cohorts CENTER-TBI and TRACK-TBI.

To compare the incremental prognostic value of pupillary reactivity captured as part of the Glasgow Coma Scale-Pupils (GCS-P) score or added as separate variable to the GCS+P, in traumatic brain injury (TBI). We analyzed patients enrolled between 2014 and 2018 in the Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI, = 3521) and the Transforming Research and Clinical Knowledge in Traumatic Brain Injury (TRACK-TBI, = 1439) cohorts. Logistic regression was utilized to quantify the prognostic performances of GCS-P (GCS minus number of unreactive pupils) and GCS+P versus GCS alone according to Nagelkerke's .

Exploring App-Based Physiotherapy for Somatic Tinnitus: Results from a Pilot Study.

Somatic tinnitus (ST) is a type of tinnitus that is influenced by changes in somatosensory input from the cervical spine or temporomandibular area. Although traditional physiotherapy has been shown to reduce ST symptoms, in-clinic treatment is not always available, and adherence to home exercise programs is often low. This study aims to investigate the effectiveness of an app-based physiotherapy program to enhance the compliance and availability of treatment for ST patients.

The International Association for the Study of Lung Cancer Lung Cancer Staging Project: Application and Interpretation of the Residual Tumor (R) Classification for Lung Cancer. Results from an International Survey among Pathologists and Thoracic Surgeons.

Objective: The study aimed to assess the opinion of pathologists and thoracic surgeons of the International Association for the Study of Lung Cancer (IASLC) regarding application and interpretation of the residual tumor (R) classification for lung cancer.

Methods: Based on their membership-profile a total of n=623 pathologists and thoracic surgeons were identified and contacted by email with a cover letter and a link to an online survey. The questionnaire consisted of 12 questions about various aspects on application and interpretation of the R classification for lung cancer.

Health-Economic Modelling of Improved Behavior in Insulin Injection Technique in Belgium.

Background: Adequate insulin injection technique (IIT) is crucial to optimize the efficacy of diabetes therapy. Widespread non-practice of injection-site rotation and frequent reuse of insulin pen needles (PN) promote high rates of lipohypertrophy (LH) among people living with diabetes (PwD). LH is associated with increased insulin requirement and suboptimal insulin absorption leading to worsened glycemic control and increased risk for hypoglycemia.

Integration of genetic testing into diagnostic pathways for cardiomyopathies: a clinical consensus statement by the ESC Council on Cardiovascular Genomics.

In the modern era, cardiologists managing patients and families with cardiomyopathies need to be familiar with every stage of the diagnostic pathway from clinical phenotyping to the prescription and interpretation of genetic tests. This clinical consensus statement from the ESC Council for Cardiovascular Genomics aims to promote the integration of genetic testing into routine cardiac care of patients with cardiomyopathies, as recommended in the 2023 ESC guidelines for cardiomyopathies. The document describes the types of genetic tests currently available and provides advice on their prescription and for counselling after the return of genetic findings, including the approach in patients and families with variants of unknown significance.

The European Diploma in Musculoskeletal Radiology: Webinar Program of the ESSR.

The European Diploma in Musculoskeletal Radiology (EDiMSK) is a recognized European qualification of excellence for musculoskeletal (MSK) radiologists. Webinars have become a vital component of electronic learning. This article introduces European Society of Musculoskeletal Radiology members to its webinar program that offers an additional source of direct interactive learning from renowned MSK radiologists.

Exploring habenular structural connectivity in Parkinson's disease: insights from 7 T MRI study.

Background: PD is marked by both motor and non-motor symptoms, with its pathophysiology involving many neural pathways and brain regions beyond the dopaminergic system. While mainly gray matter changes have been noted, white matter changes also exist in PD. Habenula, known for its role in reward processing, mood regulation, motor functions, and cognition, is of interest due to its connection to mood disorders in PD.

Cataract surgical training: Analysis of the results of the European Board of Ophthalmology survey in the Swiss cohort.

Introduction: This study, part of a series, analyses the Swiss cohort from an EBO survey on cataract surgery training in Europe, focusing on Switzerland's unique program. The survey identifies two models: training all residents in surgery, and a "high-volume surgeon" model where only some learn CS post-residency.

Methods: This study analyses the survey results of Swiss participants in the EBO examinations (2018-2022) and compared them with the most important cohorts (Germany, France and Spain).

European Diploma in Musculoskeletal Radiology: Oral Part of the Exam.

The European Diploma in Musculoskeletal Radiology (EDiMSK) is a recognized European qualification of excellence for musculoskeletal (MSK) radiologists. The EDiMSK confirms proof of knowledge of MSK radiology in addition to any national qualifications certifying competency. The examination is conducted in English and consists of both a written and an oral part.

The Correlation Between Fear Avoidance Beliefs and Physical Activity in Unilateral Vestibulopathies.

Background And Purpose: In individuals with unilateral vestibulopathy (UVP), physical activity (PA) is recommended to stimulate central vestibular compensation. However, the presence of fear avoidance beliefs might negatively influence PA. The objectives of this study were to investigate the relationship between fear avoidance beliefs and PA and to compare PA levels between individuals with UVP in an acute/subacute vs chronic phase.

Data-driven cluster analysis identifies distinct types of metabolic dysfunction-associated steatotic liver disease.

Metabolic dysfunction-associated steatotic liver disease (MASLD) exhibits considerable variability in clinical outcomes. Identifying specific phenotypic profiles within MASLD is essential for developing targeted therapeutic strategies. Here we investigated the heterogeneity of MASLD using partitioning around medoids clustering based on six simple clinical variables in a cohort of 1,389 individuals living with obesity.

Association of Blood-Based Biomarkers and 6-Month Patient-Reported Outcomes in Patients With Mild TBI: A CENTER-TBI Analysis.

Background And Objectives: There is seemingly contradictory evidence concerning relationships between day-of-injury biomarkers and outcomes after mild traumatic brain injury (mTBI). To address this issue, we examined the association between a panel of biomarkers and multidimensional TBI outcomes.

Methods: Participants with mTBI (Glasgow coma scores [GCSs] 13-15) were selected from Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury, a European observational study recruiting patients with TBI with indication for brain CT and presentation within 24 hours.

Cellular respiration in dendritic cells: Exploring oxygen-dependent pathways for potential therapeutic interventions.

Dendritic cells (DCs) are specialized antigen-presenting cells crucial for initiating and regulating adaptive immune responses, making them promising candidates for therapeutic interventions in various immune-mediated diseases. Increasing evidence suggests that the microenvironment in which cells are cultured, as well as the milieu in which they perform their functions, significantly impact their immunomodulatory properties. Among these environmental factors, the role of oxygen in DC biology and its significance for both their in vitro generation and in vivo therapeutic application require investigation.

Wound Healing in External Rhinoplasty-The Effect of Fibrin Glue on Dead Space Closure: A Retrospective Propensity Score-Matched Study.

Introduction: The presence of "dead space" in external rhinoplasty creates a welcoming environment for erratic soft tissue contraction. Poor redraping of the skin over the underlying osseocartilaginous framework at the end of the surgery may result in its creation. If surgeons can control and reliably predict skin contraction and wound healing, septorhinoplasty results would undoubtedly improve.