Genetically stratified Parkinson's disease with freezing of gait is related to specific pattern of cognitive impairment and non-motor dominant endophenotype.

Background: Freezing of gait (FOG) is an important milestone in the individual disease trajectory of people with Parkinson's disease (PD). Based on the of FOG etiology, the mechanism behind FOG implies higher executive dysfunction in PD. To test this model, we investigated the FOG-related phenotype and cognitive subdomains in idiopathic PD (iPD) patients without genetic variants linked to PD from the Luxembourg Parkinson's study.

Scientific production on robotic metabolic and bariatric surgery: a comprehensive bibliometric analysis on its current world status.

Background:  Robotic metabolic and bariatric surgery (RMBS) has emerged as an innovative approach in the treatment of severe obesity by combining the ergonomic precision of robotic technology and instrumentation with the established benefits of weight loss surgery. This study employs a bibliometric approach to identify local research trends and worldwide patterns in RMBS.

Materials & Methods:  The research methodology used "robotic" and "metabolic" or "bariatric surgery" to search Web of Science.

Physiologic Preoperative Knee Hyperextension Is Not Associated With Postoperative Laxity, Subjective Knee Function, or Revision Surgery After ACL Reconstruction With Hamstring Tendon Autografts.

Background: There is concern that physiologic knee hyperextension may be associated with inferior outcomes after anterior cruciate ligament reconstruction (ACLR) using hamstring tendon (HT) autografts.

Purpose: To assess whether there is an association between contralateral passive preoperative knee hyperextension (≤-5°) and postoperative anterior knee laxity, subjective knee function, or revision surgery after ACLR using HT autografts.

Study Design: Cohort study; Level of evidence, 3.

Eighteen-Month Hybrid Closed-Loop Use in Very Young Children With Type 1 Diabetes: A Single-Arm Multicenter Trial.

Objective: We aimed to evaluate the longer-term safety and efficacy of hybrid closed-loop (CL) therapy in very young children with type 1 diabetes (T1D).

Research Design And Methods: Following a 16-week multinational, randomized crossover trial comparing hybrid CL with sensor-augmented pump (SAP) therapy in 74 very young children aged 1-7 years with T1D, participants were invited to an extension phase using CL for a further 18 months. Outcomes were compared with the primary-phase SAP period and primary-phase CL period.

Running shoe cushioning properties at the rearfoot and forefoot and their relationship to injury: study protocol for a randomised controlled trial on leisure-time runners.

Previous work has demonstrated the protective effect of shoe cushioning on injury risk in leisure-time runners, but most models currently available on the market have greater cushioning than those investigated so far. Also, the optimal level of cushioning and the role of cushioning on the forepart of the shoe for injury prevention are still unknown. The main aim of this study is to determine whether (1) current 'extra soft' cushioning material at the rear part of the shoe reduces injury risk compared with stiffer material and (2) cushioning under the forepart of the shoe also contributes to injury risk reduction.

Policy for transitioning childhood-onset growth hormone deficiency from pediatric to adult endocrine care in Belgium.

Growth hormone (GH) deficiency (GHD) in children and adolescents can vary in severity and origin, with GH replacement therapy proving effective in achieving genetic target height. Optimal outcomes are seen in those treated early and with higher doses. As patients approach adult height, priorities shift towards optimizing metabolic effects, maintaining body composition, and enhancing bone mass and muscle strength.

Socio-ethical challenges and opportunities for advancing diversity, equity, and inclusion in digital medicine.

Digitalization in medicine offers a significant opportunity to transform healthcare systems by providing novel digital tools and services to guide personalized prevention, prediction, diagnosis, treatment and disease management. This transformation raises a number of novel socio-ethical considerations for individuals and society as a whole, which need to be appropriately addressed to ensure that digital medical devices (DMDs) are widely adopted and benefit all patients as well as healthcare service providers. In this narrative review, based on a broad literature search in PubMed, Web of Science, Google Scholar, we outline five core socio-ethical considerations in digital medicine that intersect with the notions of equity and digital inclusion: (i) access, use and engagement with DMDs, (ii) inclusiveness in DMD clinical trials, (iii) algorithm fairness, (iv) surveillance and datafication, and (v) data privacy and trust.

Giant pedunculated liver hydatid cyst causing inferior vena cava syndrome: a case report.

Background: Hydatid disease is a zoonotic infection caused by the species Echinococcus that typically affects the liver. Most liver hydatid cysts are asymptomatic at first, but as the cyst grows larger, symptoms, such as compression effects, start to appear. Ultrasonography and computed tomography scans are the widely used diagnostic tools, and surgery is considered the mainstay of treatment.

K acetyltransferase 2B () variants can be responsible for early onset steroid-resistant nephrotic syndrome.

In children, 15% of nephrotic syndromes are steroid-resistant (SRNS); approximately 30% of early onset SRNS have a genetic origin, with more than 100 causal genes described so far. SRNS can be syndromic, if associated with signs and symptoms affecting other organs or systems, such as the central nervous system, the heart or the eyes. Patients with SRNS are at high risk of chronic kidney disease and progressive renal failure, and as such need multidisciplinary care, centred on renal protection.

Multiomic biomarkers after cardiac arrest.

Cardiac arrest is a sudden cessation of heart function, leading to an abrupt loss of blood flow and oxygen to vital organs. This life-threatening emergency requires immediate medical intervention and can lead to severe neurological injury or death. Methods and biomarkers to predict neurological outcome are available but lack accuracy.

Abdominal Pain Mimicking a Neurological Disorder: A Case Report of Spinal Cavernous Malformation in a Pediatric Patient.

We present a case of a 13-year-old boy with abdominal pain initially misdiagnosed as gastrointestinal in origin. Despite initial outpatient management, his symptoms rapidly deteriorated, revealing a central-medullary cavernous malformation causing spinal cord compression. This case underscores the importance of a comprehensive pediatric examination and highlights new treatment approaches for spinal cavernous malformations.

Considerations for the design and conduct of pediatric obesity pharmacotherapy clinical trials: Proceedings of expert roundtable meetings.

Anti-obesity medications (AOMs) have emerged as one element of comprehensive obesity clinical care intended to improve long-term health outcomes for children and adolescents. The number of pediatric AOM clinical trials has burgeoned in recent years as new pharmacotherapeutics have been developed. Factors related to growth and development in children and adolescents can present unique challenges in terms of designing and conducting clinical trials investigating the safety and efficacy of AOMs.

A new patient-reported outcome measure for the evaluation of ankle instability: description of the development process and validation protocol.

Background: Acute ankle sprains represent one of the most common traumatic injuries to the musculoskeletal system. Many individuals with these injuries experience unresolved symptoms such as instability and recurrent sprains, leading to chronic ankle instability (CAI), which affects their ability to maintain an active lifestyle. While rehabilitation programs focusing on sensorimotor, neuromuscular, strength and balance training are primary treatments, some patients require surgery when rehabilitation fails.

Impact of COVID-19 infection on lung function and nutritional status amongst individuals with cystic fibrosis: A global cohort study.

Background: Factors associated with severe COVID-19 infection have been identified; however, the impact of infection on longer-term outcomes is unclear. The objective of this study was to examine the impact of COVID-19 infection on the trajectory of lung function and nutritional status in people with cystic fibrosis (pwCF).

Methods: This is a retrospective global cohort study of pwCF who had confirmed COVID-19 infection diagnosed between January 1, 2020 and December 31, 2021.

Assessing the clinical utility of inertial sensors for home monitoring in Parkinson's disease: a comprehensive review.

This review screened 296 articles on wearable sensors for home monitoring of people with Parkinson's Disease within the PubMed Database, from January 2017 to May 2023. A three-level maturity framework was applied for classifying the aims of 59 studies included: demonstrating technical efficacy, diagnostic sensitivity, or clinical utility. As secondary analysis, user experience (usability and patient adherence) was evaluated.

Iron-sulfur cluster loss in mitochondrial CISD1 mediates PINK1 loss-of-function phenotypes.

Parkinson's disease (PD) is characterized by the progressive loss of dopaminergic neurons in the substantia nigra of the midbrain. Familial cases of PD are often caused by mutations of PTEN-induced kinase 1 (PINK1) and the ubiquitin ligase Parkin, both pivotal in maintaining mitochondrial quality control. CISD1, a homodimeric mitochondrial iron-sulfur-binding protein, is a major target of Parkin-mediated ubiquitination.

Dopamine Pathway and Parkinson's Risk Variants Are Associated with Levodopa-Induced Dyskinesia.

Background: Levodopa-induced dyskinesia (LID) is a common adverse effect of levodopa, one of the main therapeutics used to treat the motor symptoms of Parkinson's disease (PD). Previous evidence suggests a connection between LID and a disruption of the dopaminergic system as well as genes implicated in PD, including GBA1 and LRRK2.

Objectives: Our goal was to investigate the effects of genetic variants on risk and time to LID.

Fecal IgE Analyses Reveal a Role for Stratifying Peanut-Allergic Patients.

Background And Objective: Peanut allergy (PA) is an IgE-mediated food allergy with variable clinical outcomes. Mild-to-severe symptoms affect various organs and, often, the gastrointestinal tract. The role of intestine-derived IgE antibodies in astrointestinal PA symptoms is poorly understood.

[Chat messenger use in the care of patients with Parkinson's disease].

Background: The demand for chat messaging apps for communication between physicians, therapists and patients is increasing. The expectations for this form of communication and uncertainties regarding introduction and use are heterogeneous.

Objective: The implementation of chat messengers in the care of patients with Parkinson's disease should be facilitated by recommendations regarding introduction and usage.