Prevalence and management of hypertension in Turner syndrome: data from the International Turner Syndrome (I-TS) registry.

Introduction: Cardiovascular disease is the commonest cause of death in Turner syndrome (TS) for which, arterial hypertension has a direct influence and is a key modifiable risk factor.

Objective: To investigate the prevalence and patterns of hypertension diagnosis and management in adult patients with TS who are registered in a large international multicentre database (TS-HTN study).

Methods: Retrospective multi-centre observational study of patients aged ≥18 years, included in the I-TS (International-TS) registry (2020-2022) utilising registry and participating centre collected data.

mHealth-based intervention by community workers to support family caregivers of persons with dementia living at home: study protocol for a cluster randomised controlled trial.

Background: India is undergoing a significant demographic shift with a growing older population, leading to an anticipated increase in people with dementia. Family caregivers, who are predominantly informal, carry the burden of care within households, facing numerous challenges that impact their well-being. Despite the cultural emphasis on family support, there is a lack of targeted interventions for caregivers in India.

The effects of recent stressful life events on outcomes in individuals at clinical high risk for psychosis: results from the longitudinal EU-GEI high-risk study.

Background: Recent stressful life events (SLE) are a risk factor for psychosis, but limited research has explored how SLEs affect individuals at clinical high risk (CHR) for psychosis. The current study investigated the longitudinal effects of SLEs on functioning and symptom severity in CHR individuals, where we hypothesized CHR would report more SLEs than healthy controls (HC), and SLEs would be associated with poorer outcomes.

Methods: The study used longitudinal data from the EU-GEI High Risk study.

Clinical management of female patients with Fabry disease based on expert consensus.

Fabry disease is an X-linked lysosomal storage disorder that causes accumulation of glycosphingolipids in body tissues and fluids, leading to progressive organ damage and life-threatening complications. It can affect both males and females and can be classified into classic or later-onset phenotypes. The disease severity in females ranges from asymptomatic to the more severe, classic phenotype.

The prognostic value of neurohormonal and inflammatory biomarkers in addition to the TIMI risk score in patients with ST-elevation myocardial infarction.

Background: The Thrombolysis in Myocardial Infarction (TIMI) risk score estimates mortality for patients with ST-elevation myocardial infarction (STEMI). This study aimed to investigate whether biomarkers reflecting the neurohormonal response (pro-atrial natriuretic peptide (proANP), mid-regional pro-adrenomedullin (MR-proADM), and copeptin), inflammation (suppression of tumorigenicity 2 (ST2), C-reactive protein (CRP), and leukocytes), and troponin add prognostic value to the TIMI risk score.

Methods: This sub-study of the prospective PREDICT cohort included 1700 non-comatose and non-cardiogenic shock STEMI patients upon admission.

Molecularly redefining small bowel adenocarcinoma to accelerate precision patient care - protocol of a multicenter observational cohort biomarker study.

Background: Small Bowel Adenocarcinoma (SBA) is a rare gastrointestinal cancer with a limited understanding of the molecular pathology. This study aims to bridge the knowledge gap, providing a robust molecular foundation for SBA and addressing the clinical challenges inherent in treating this orphan disease. The study proposes to redefine the clinical management for SBA patients through advanced molecular profiling techniques to improve potential precision medicine.

Dream Enactment Behaviour in Post-Traumatic Stress Disorder.

Sleep disturbances are widely reported in Post-Traumatic Stress Disorder (PTSD). Although Dream Enactment Behaviour (DEB) has long been associated with PTSD, its high prevalence has only recently been recognized, sparking discussions about the classification of trauma-related sleep disorders. The impact of DEB on treatment outcomes in PTSD remains unexplored.

Usefulness of Aortic Valve Calcification in Patients With Low-Flow Aortic Stenosis.

Background: Aortic valve calcification (AVC) has been shown to be a powerful assessment of aortic stenosis (AS) severity and a predictor of adverse outcomes. However, its accuracy in patients with low-flow AS has not yet been proven. The objective of the study was to assess the predictive value of AVC in patients with classical low-flow (CLF, that is, low-flow reduced left ventricular ejection fraction) or paradoxical low-flow (PLF, that is, low-flow preserved left ventricular ejection fraction) AS.

A Prospective Study on the Feasibility and Effect of an Optimized Perioperative Care Protocol in Pediatric Neuromuscular Scoliosis Surgery.

: A recent retrospective study conducted by our team identified a high percentage of postoperative pneumonia in children with neuromuscular scoliosis. Based on the findings in that study and our clinical experience, we aimed to assess the effectiveness of an optimized perioperative care protocol. : As part of a prospective study, a multidisciplinary team developed a protocol that included preoperative nutritional and respiratory optimization, intra- and postoperative intravenous glucose infusion, early extubation, and postoperative nutritional optimization.

A Feasibility Study of a Controlled Standing Fulcrum Side-Bending Test in Adolescent Idiopathic Scoliosis.

: Spinal flexibility radiographs are important in adolescent idiopathic scoliosis (AIS) for clinical decision-making. In this study, we introduce a new method, the 'quantitatively controlled standing fulcrum side-bending' test (CSFS test). This is a feasibility study; we aimed to quantify the applied force and track the temporospatial changes in the spine specifically by measuring the continuous change in the Cobb angle (in degrees) during lateral bending.

Real-World Effectiveness and Safety of Selective JAK Inhibitors in Ulcerative Colitis and Crohn's Disease: A Retrospective, Multicentre Study.

: Data on the real-world effectiveness and safety of selective JAK inhibitors (JAKis) in ulcerative colitis (UC) and Crohn's disease (CD) are limited. : We conducted a multicentre, retrospective study to assess clinical, biochemical, and endoscopic outcomes of selective JAKis in bio-experienced UC and CD. : A total of 246 patients (mean age: 40.

Quality Improvement Intervention Decreases Pain and Adverse Events Due to Heel Lances in Infants.

Background: Studies have investigated ways to reduce infants' pain during heel lancing, but research on preventing adverse events is scarce. This study investigated whether or not the number of infants with normal comfort (>8 and ≤14), distress (≤4), and pain (≤4) scores increased and whether or not the number of adverse events (blue and/or edematous heels and improperly placed incisions) decreased during and after heel lancing following an intervention.

Methods: A pre- and post-quality improvement intervention including 189 and 186 heel lances, respectively, in infants (postmenstrual age ≥ 28 + 0 to ≤ 43 + 6 weeks) was conducted in May to July 2020 and April to July 2022.

The Potential for Lifestyle Intervention Among Patients Undergoing Transurethral Resection of Bladder Tumour Based on Patient Needs Including Smoking and Other Risky Lifestyle Factors: A Cross-Sectional Study.

Bladder cancer is the tenth most common cancer worldwide, with non-muscle invasive bladder cancer (NMIBC) accounting for 75% of cases. Transurethral resection of bladder tumours (TURBT) is the standard treatment, but it is associated with significant risks of complications and recurrence. Risky lifestyle factors, including smoking, malnutrition, obesity, risky alcohol use, and physical inactivity (collectively termed SNAP factors), may worsen surgical outcomes and increase cancer recurrence.

Health and Liver Diagnostic Markers Influencing Glycemia in Subjects with Prediabetes: Preview Study.

Introduction: Glucose homeostasis may be dependent on liver conditions and influence health-related markers and quality of life (QoL) objective measurements. This study aimed to analyze the interactions of glycemia with liver and health status in a prediabetic population.

Subjects And Methods: This study included 2220 overweight/obese prediabetics from the multinational PREVIEW project.

Long-Term Visual Field Progression in X-Linked Retinitis Pigmentosa Patients.

We present an image that illustrates long-term visual field progression in patients with X-linked retinitis pigmentosa (XLRP) due to the retinitis pigmentosa GTPase regulator (RPGR) and retinitis pigmentosa 2 protein (RP2) gene variants. Longitudinal data from 84 genetically confirmed XLRP patients were collected from the Danish Retinitis Pigmentosa Registry, spanning the years 1948 to 2014. A visual field summation image revealed the characteristic pattern of retinal degeneration and visual field preservation in XLRP.

CT-Free Attenuation Correction in Paediatric Long Axial Field-of-View Positron Emission Tomography Using Synthetic CT from Emission Data.

: Paediatric PET/CT imaging is crucial in oncology but poses significant radiation risks due to children's higher radiosensitivity and longer post-exposure life expectancy. This study aims to minimize radiation exposure by generating synthetic CT (sCT) images from emission PET data, eliminating the need for attenuation correction (AC) CT scans in paediatric patients. : We utilized a cohort of 128 paediatric patients, resulting in 195 paired PET and CT images.

An In Silico Investigation of the Pathogenic G151R G Protein-Gated Inwardly Rectifying K Channel 4 Variant to Identify Small Molecule Modulators.

Primary aldosteronism is characterised by the excessive production of aldosterone, which is a key regulator of salt metabolism, and is the most common cause of secondary hypertension. Studies have investigated the association between primary aldosteronism and genetic alterations, with pathogenic mutations being identified. This includes a glycine-to-arginine substitution at position 151 (G151R) of the G protein-activated inward rectifier potassium (K) channel 4 (GIRK4), which is encoded by the gene.

Refinement of a Published Gene-Physical Activity Interaction Impacting HDL-Cholesterol: Role of Sex and Lipoprotein Subfractions.

Large-scale gene-environment interaction (GxE) discovery efforts often involve analytical compromises for the sake of data harmonization and statistical power. Refinement of exposures, covariates, outcomes, and population subsets may be helpful to establish often-elusive replication and evaluate potential clinical utility. Here, we used additional datasets, an expanded set of statistical models, and interrogation of lipoprotein metabolism via nuclear magnetic resonance (NMR)-based lipoprotein subfractions to refine a previously discovered GxE modifying the relationship between physical activity (PA) and HDL-cholesterol (HDL-C).

E-cigarette or vaping product use-associated lung injury (EVALI). A case report of a 19-year-old male in Denmark.

E-cigarette or vaping product use-associated lung injury (EVALI) is a potentially severe acute interstitial lung disease primarily observed in the United States, with sporadic cases reported in Europe. EVALI, though rare, could be susceptible to under-diagnosis due to limited awareness and diagnostic suspicion. We present a case of a 19-year-old male in Denmark diagnosed with severe EVALI.

Eccentric Training to Restore Persistent Functional Loss Following Ruptured Achilles Tendon: The Role of Fascicle Length and Muscle Excursion.

Persisting deficits are often seen years after an Achilles tendon rupture despite dedicated rehabilitation efforts. A possible reason for reduced function is elongation of the tendon and accompanying shortening of the muscle. Strength training with focus on the eccentric component of loading leads to longer muscle fascicles in healthy persons.

To intubate or not? Balancing anesthesia in rodent fMRI: strategies to mitigate confounding effects.

More than a decade ago, the introduction of intubation and mechanical ventilation for performing blood oxygen level-dependent functional MRI studies in the rodent brain allowed an improved control over the physiological conditions during scanning sessions. An accurate understanding of respiratory parameters permits to respect the 3Rs in animal research, improves significantly the fMRI outcome, and promises improved translational studies. Developments also prompted a better comprehension on anesthetics and their impact on rodent brain physiology and function, bringing new insights on the buildup of carbon dioxide, interhemispheric connectivity, or arousal, which understanding are paramount for maturing better fMRI protocols in awake rodents.

Metabolic Risk Factors Relate to Worse Tendon Health in Individuals With Achilles Tendinopathy.

A high proportion of individuals with Achilles tendinopathy continue to demonstrate long-term symptoms and functional impairments after exercise treatment. Thus, there is a need to delineate patient presentations that may require alternative treatment. The objective of this study was to evaluate if the presence of metabolic risk factors relates to tendon symptoms, psychological factors, triceps surae structure, and lower limb function in individuals with Achilles tendinopathy.

Regular human insulins versus rapid-acting insulin analogues in children and adolescents with type 1 diabetes: a protocol for a systematic review with meta-analysis and Trial Sequential Analysis.

Background: Type 1 diabetes is a serious, chronic disorder with an increasing incidence among children and adolescents. Glycemic control in individuals with type 1 diabetes is better managed through a basal-bolus regimen with either regular human or rapid-acting insulin analogues administered as a bolus at mealtimes. Rapid-acting insulin analogues have been hypothesized to cause optimal glycemic control and less risk of hypoglycemic episodes compared to regular human insulins.

Open-label randomised clinical trial investigating whether robot-assisted kidney transplantation can reduce surgical complications compared to open kidney transplantation (ORAKTx): study protocol for a randomised clinical trial.

Background: Kidney transplantation is the ultimate treatment for end-stage kidney disease. Function of the kidney graft is not only dependent on medical factors but also on a complication-free surgical procedure. In the event of major surgical complications, the kidney graft is potentially lost and the patient will return to the waiting list which may be long.