Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.

Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.

The role of accidental hypothermia in drowning patients with out-of-hospital cardiac arrest: A nationwide registry-based cohort study.

Aim: This study aimed to investigate the associations between hypothermia and mortality or poor neurological outcome in a nationwide cohort of drowning patients with out-of-hospital cardiac arrest (OHCA).

Methods: This nationwide, registry-based cohort study reported in-hospital data on drowning patients with OHCA following the Utstein Style For Drowning. Drowning patients with OHCA were identified in the Danish Cardiac Arrest Registry from 2016 to 2021.

Joint Associations of Sedentary Time and Intensity-Specific Physical Activity With Cancer Mortality: A Device-Based Cohort Study of 72,458 UK Adults.

Background: There are no studies examining the prospective joint association of device-based measures of sedentary time and physical activity (PA) with cancer mortality. We examined the joint associations of sedentary time and intensity-specific PA with cancer mortality in 72,458 adults from UK Biobank.

Methods: Participants wore an Axivity AX3 accelerometer on their dominant wrist for at least 3 days (with at least 1 weekend day).

Classification of α-thalassemia data using machine learning models.

Background: Around 7% of the global population has congenital hemoglobin disorders, with over 300,000 new cases of α-thalassemia annually. Diagnosis is costly and inaccurate in low-income regions, often relying on complete blood count (CBC) tests. This study employs machine learning (ML) to classify α-thalassemia traits based on gender and CBC, exploring the effects of grouping silent- and non-carriers.

Evaluation of Colon Capsule Utilisation in Europe-CAPTURE EU Survey Findings.

Colon capsule endoscopy (CCE) is a non-invasive method for visualising the colon, but its clinical adoption has been slow. Although the COVID-19 pandemic reignited interest in CCE, its role in conventional gastrointestinal investigations remains unclear, leading to varied practices across Europe. This highlights the need for a comprehensive understanding of diverse approaches to CCE in clinical practice.

S6K2 in Focus: Signaling Pathways, Post-Translational Modifications, and Computational Analysis.

S6 Kinase 2 (S6K2) is a key regulator of cellular signaling and is crucial for cell growth, proliferation, and survival. This review is divided into two parts: the first focuses on the complex network of upstream effectors, downstream modulators, and post-translational modifications (PTMs) that regulate S6K2 activity. We emphasize the dynamic nature of S6K2 regulation, highlighting its critical role in cellular homeostasis and its potential as a therapeutic target in diseases like cancer.

Patients' Health-Related Quality of Life and Use of Medicinal Cannabis: A Cross-Sectional Survey Study.

Background: Studies on medicinal cannabis (MC) have primarily investigated effects on diseases and symptoms, while there is only sparse knowledge on patients' health-related quality of life. Our aim was, firstly, to compare the health-related quality of life of patients (MC users and non-users) within four specified diagnostic indications (multiple sclerosis, paraplegia, neuropathy, and nausea and vomiting after chemotherapy) with that of patients with other diagnostic indications (MC users only) and the adult population (non-users only). Secondly, we estimate the associations between use of MC and health-related quality of life for patients in the four specified diagnostic indications.

Smoking status, symptom significance and healthcare seeking with lung cancer symptoms in the Danish general population.

This study analyses the associations between smoking status and perceived symptom significance (concern and influence on daily activity) among individuals with possible lung cancer symptoms and investigate the influence of symptom significance on healthcare seeking among individuals with different smoking status. A nationwide survey with 21,920 randomly selected individuals aged ≥40 years included questions about lung cancer symptoms, symptom concern and influence on daily activities, GP contact, and smoking status. Descriptive statistics and multivariable regression models were applied.

Vacuum-Assisted Closure Significantly Reduces Surgical Postoperative Complications Compared With Primary Abdominal Closure in Patients With Secondary Peritonitis: A Comparative Retrospective Study.

Background: Vacuum-assisted abdominal closure (VAC) is being increasingly used as an adjunctive procedure in the surgical treatment of secondary peritonitis. This study compared postoperative mortality and complication rates between VAC and primary abdominal closure (PAC).

Method: This retrospective chart review included all patients diagnosed with secondary peritonitis who underwent laparotomy between 2010 and 2019.

Psychometric measurement properties and reference values of the six-spot step test, the six-minute walk test, the 25-foot walk test, and the 12-item multiple sclerosis walking scale in people with multiple sclerosis.

Unlabelled: This review investigated the psychometric properties of the most commonly used short-, long-, complex- and patient-reported walking outcome measures in multiple sclerosis(MS): the timed-25-foot walk test (T25FW), the six-minute walk test (6MWT), the six-spot step-test (SSST), and the 12-item MS walking scale (MSWS-12), along with reported reference data of these tests.

Methods: Based on PubMed and Embase searches, psychometric as well as descriptive data of T25FW, 6MWT, SSST, and MSWS-12 were extracted from studies evaluating persons with MS (pwMS). Descriptive data was also extracted from healthy controls (HC), if reported.

The adaptor protein Miro1 modulates horizontal transfer of mitochondria in mouse melanoma models.

Recent research has shown that mtDNA-deficient cancer cells (ρ cells) acquire mitochondria from tumor stromal cells to restore respiration, facilitating tumor formation. We investigated the role of Miro1, an adaptor protein involved in movement of mitochondria along microtubules, in this phenomenon. Inducible Miro1 knockout (Miro1) mice markedly delayed tumor formation after grafting ρ cancer cells.

Rocking Motion Therapy for Delirious Patients in the ICU: A Multicenter Randomized Clinical Trial.

Objectives: Rocking motion therapy has been shown to calm people with dementia but has never been investigated in delirious patients in the ICU. The aim of this clinical trial was to investigate the efficacy and safety of a rocking motion vs. nonrocking motion chair on the duration of delirium and intensity of agitation in ICU patients with delirium.

Rocking Motion Therapy for Delirious Patients in the ICU: A Multicenter Randomized Clinical Trial.

Objectives: Rocking motion therapy has been shown to calm people with dementia but has never been investigated in delirious patients in the ICU. The aim of this clinical trial was to investigate the efficacy and safety of a rocking motion vs. nonrocking motion chair on the duration of delirium and intensity of agitation in ICU patients with delirium.

Obese Hypertensive Men Have Fasting Serum Concentrations of Leptin Similar to Those of Obese Normotensive Men.

Background: Leptin is a hormone which is secreted by the adipocytes. In the circulation, leptin levels are directly proportional to the body fat percentage. Studies have shown that higher leptin levels are associated with an increased risk of hypertension after adjusting for body mass index (BMI).

Mental health during and after pregnancy in medically assisted reproduction: a danish cohort study.

Purpose: Infertility is common and an increasing number of women go through medically assisted reproduction (fertility treatment) to achieve pregnancy. This may affect mental health. We examined if fertility treatment and the specific fertility treatment method used (in vivo or in vitro) were associated with impaired mental health during or after pregnancy.

Comprehensive assessment as part of the assistive technology service delivery process.

Background: The assistive technology (AT) service delivery process is complex and includes a comprehensive assessment of the citizen's situation to inform decision making. This assessment is required by Danish law to ensure that citizens receive solutions matched to their needs, including other services than the AT.

Aim: To investigate how Danish occupational therapists, involved in the AT service delivery process, perform the comprehensive assessment.

Mechanical circulatory support: when, how, and for whom.

Cardiogenic shock represents a critical condition in which the heart is unable to maintain adequate circulation leading to insufficient tissue perfusion and end-organ failure. Temporary mechanical circulatory support offers the potential to stabilize patients, provide a bridge-to-recovery, provide a bridge-to-decision, or facilitate definitive heart replacement therapies. Although randomized controlled trials have been performed in infarct-related cardiogenic shock and refractory cardiac arrest, the optimal timing, appropriate patient selection, and optimal implementation of these devices remain complex and predominantly based on observational data and expert consensus, especially in non-ischaemic shock.

Application scenarios for a mobile hearing aid demonstrator with headphone form factor.

Objective: To describe application scenarios of a mobile device that provides a practical means for showcasing potential hearing aid benefits.

Design: A prototype of a hearing aid demonstrator based on circumaural headphones and a mobile signal processing platform was developed, providing core functions of a hearing aid, including several gain presets, in a hygienic, robust, and easy-to-use form factor. Speech intelligibility outcomes with the demonstrator and broadband level adaptations as potential fitting references were compared to outcomes with the own hearing aids of hearing-impaired participants.

Preservation of the azygos vein versus ligation of the azygos vein during primary surgical repair of congenital esophageal atresia.

Background: Esophageal atresia is one of the most common life-threatening congenital malformations and is defined as an interruption in the continuity of the esophagus with or without fistula to the trachea or bronchi. Definitive treatment is surgical ligation of the fistula if present and esophageal end-to-end anastomosis of the two pouches, thereby reconstructing the continuity of the esophagus. During this procedure, the surgeon may choose to either ligate or preserve the azygos vein, a major draining vein for the esophagus and surrounding structures, but no definitive consensus on the matter exists.

Recommendations For Mobilization and Manipulation Treatment and Screening for Vascular Complications in Clinical Practice Guidelines for Neck Pain: A Systematic Review.

Objective: This systematic review aimed to determine the methodological quality of international clinical practice guidelines and the clinical credibility and implementability of recommendations regarding manipulation or mobilization treatment recommendations proposed in clinical practice guidelines for the management of people with neck pain. A secondary aim of this review was to provide an overview of recommendations for manipulation or mobilization in patients with neck pain. Manipulation or mobilization treatment of patients with neck pain is under debate for its potential risk of serious adverse events.

A Highly Divergent Mitochondrial Genome in Extant Cape Buffalo From Addo Elephant National Park, South Africa.

The reduced cost of next-generation sequencing (NGS) has allowed researchers to generate nuclear and mitochondrial genome data to gain deeper insights into the phylogeography, evolutionary history and biology of non-model species. While the Cape buffalo () has been well-studied across its range with traditional genetic markers over the last 25 years, researchers are building on this knowledge by generating whole genome, population-level data sets to improve understanding of the genetic composition and evolutionary history of the species. Using publicly available NGS data, we assembled 40 Cape buffalo mitochondrial genomes (mitogenomes) from four protected areas in South Africa, expanding the geographical range and almost doubling the number of mitogenomes available for this species.

Socioeconomic status moderates the effect of physical education on overweight and obesity in children: a quasi-experimental trial.

Unlabelled: This study aimed to estimate the effects of an intensive school-based physical education intervention on the risk of developing overweight or obesity in primary school students when accounting for the moderating role of socioeconomic status. This quasi-experimental trial included data from primary school students participating in an intensive physical education program comprising 4.5 h of weekly physical activity compared to 1.