Clinical characteristics of the Ala21Val variant in the myelin proteolipid protein 1 (PLP1) gene associated with Pelizaeus-Merzbacher disease in a Brazilian male patient.

Here, we report the case of a 29-year-old male with classic Pelizaeus-Merzbacher disease (PMD) harboring the PLP1 variant NM_000533.5:c.62 C > T, leading to an NP_000524.

Taking a stand, ready or not: navigating sensitive end-of-life care conversations in patients with end-stage heart failure.

Aims: Patients with heart failure (HF) often experience delayed identification of palliative care needs. While communication with HF patients and their caregivers is increasingly stressed, systematic conversations about end-of-life care wishes remain a gap. This study explores a dyad experience of Advance Care Planning (ACP) conversations in an HF outpatient clinic.

Key elements for designing effective second victim support interventions: a focus group study in European clinical settings.

Background: The second victim (SV) experience limits the performance of health and care workers and places patients at risk. Peer support is recognised as the most effective, feasible and acceptable intervention to mitigate its impact.

Objective: To define a set of success factors when designing interventions to support SVs in health and care facilities based on expertise in different European countries.

EXtending Omalizumab Treatment Intervals in patients with Chronic spontaneous urticaria (EXOTIC): protocol of a multicentre, randomised, open-label, non-inferiority trial.

Introduction: Omalizumab, an anti-IgE monoclonal antibody, is effective in treating antihistamine-refractory chronic spontaneous urticaria (CSU). However, tapering strategies for omalizumab are currently not well-studied, and patients may be treated longer than needed. Here, we present the rationale and design of the EXtending Omalizumab Treatment Intervals in patients with Chronic spontaneous urticaria trial, a multicentre, randomised, open-label, non-inferiority clinical trial.

Laser-Induced Metal-Organic Framework-Derived Flexible Electrodes for Electrochemical Sensing.

The successful development of a metal-organic framework (MOF)-derived Co/CoO/C core-shell composite integrated into laser-induced graphitic (LIG) carbon electrodes for electrochemical sensing is reported. The sensors are fabricated via a direct laser scribing technique using a UV laser (355 nm wavelength) to induce the photothermolysis of rationally selected ZIF-67 into the LIG matrix. Electrochemical characterization reveals that the incorporation of the laser-scribed ZIF-67-derived composite on the electrode surface reduces the impedance more than 100 times compared with bare LIG sensors.

Screening for dysphagia in older people: A validation study of the psychometric properties of the Danish 4 Question Test (4QT-DK).

Aim: The four-item questionnaire test (4QT) is a simple screening measure of dysphagia for older people. A positive answer to any item indicates the need for further assessment. The 4QT is fast, simple to apply and requires no training beforehand.

Lower urinary tract sub-structures as predictors of late urinary toxicity in concurrent chemo-radiotherapy for anal cancer.

Background And Purpose: Late toxicity is substantial after chemotherapy for anal cancer. This study aimed to investigate the relationship between radiation dose to lower urinary tract sub-structures and the risk of late urinary toxicities, in patients with anal cancer treated with chemoradiotherapy or radiotherapy.

Materials And Methods: From 2015 to 2021, 314 patients with localized anal cancer were included in a national prospective registration study.

Pharmacological Interventions for the Acute Treatment of Hyperkalaemia: A Systematic Review and Meta-analysis.

Background: Hyperkalaemia is a life-threatening electrolyte disturbance and also a potential cause of cardiac arrest. The objective was to assess the effects of acute pharmacological interventions for the treatment of hyperkalaemia in patients with and without cardiac arrest.

Methods: The review was reported according to PRISMA guidelines and registered on PROSPERO (CRD42023440553).

Pilot-scale adsorption of pharmaceuticals from municipal wastewater effluent using low-cost magnetite-pine bark: regeneration/enumeration of viable bacteria with a study on their biotoxicity.

A low-cost and renewable magnetite-pine bark (MPB) sorbent was evaluated in continuous-flow systems for the removal of various pharmaceuticals from municipal wastewater effluent following membrane bioreactor (MBR) treatment. A 33-day small-scale column test (bed volume: 791 cm) was conducted using duplicate columns of biochar (BC, Novocarbo) and activated carbon (AC, ColorSorb) as reference for two columns of BC and MPB in order to compare the efficiency of AC and MPB. After the small-scale column test, the pharmaceutical concentrations were generally below the detection limit.

Diffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I.

Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disorder leading to deleterious brain effects. While animal models suggested that MPS I severely affects white matter (WM), whole-brain diffusion tensor imaging (DTI) analysis was not performed due to MPS-related morphological abnormalities. 3T DTI data from 28 severe (MPS IH, treated with hematopoietic stem cell transplantation-HSCT), 16 attenuated MPS I patients (MPS IA) enrolled under the study protocol NCT01870375, and 27 healthy controls (HC) were analyzed using the free-water correction (FWC) method to resolve macrostructural partial volume effects and unravel differences in DTI metrics accounting for microstructural abnormalities.

Beyond the random phase approximation for calculating Curie temperatures inferromagnets: application to Fe, Ni, Co and monolayer CrI3.

The magnetic properties of solids are typically analyzed in terms of Heisenberg models where the electronic structure is approximated by interacting localized spins. However, even in such models the evaluation of thermodynamic properties constitutes a major challenge and is usually handled by a mean field decoupling scheme. The random phase approximation (RPA) comprises a common approach and is often applied to evaluate critical temperatures although it is well known that the method is only accurate well below the critical temperature.

Examining the Emotional and Physical Health Impact in Users of Open-Source Automated Insulin Delivery and Sources of Support: Qualitative Analysis of Patient Narratives.

Background: Although commercially developed automated insulin delivery (AID) systems have recently been approved and become available in a limited number of countries, they are not universally available, accessible, or affordable. Therefore, open-source AID systems, cocreated by an online community of people with diabetes and their families behind the hashtag #WeAreNotWaiting, have become increasingly popular.

Objective: This study focused on examining the lived experiences, physical and emotional health implications of people with diabetes following the initiation of open-source AID systems, their perceived challenges, and their sources of support, which have not been explored in the existing literature.

A Core Outcome Set for Adult General ICU Patients.

Objectives: Randomized clinical trials informing clinical practice (e.g., like large, pragmatic, and late-phase trials) should ideally mostly use harmonized outcomes that are important to patients, family members, clinicians, and researchers.

Transforming literature screening: The emerging role of large language models in systematic reviews.

Systematic reviews (SR) synthesize evidence-based medical literature, but they involve labor-intensive manual article screening. Large language models (LLMs) can select relevant literature, but their quality and efficacy are still being determined compared to humans. We evaluated the overlap between title- and abstract-based selected articles of 18 different LLMs and human-selected articles for three SR.

Pan-European atmospheric lead pollution, enhanced blood lead levels, and cognitive decline from Roman-era mining and smelting.

Ancient texts and archaeological evidence indicate substantial lead exposure during antiquity that potentially impacted human health. Although lead exposure routes were many and included the use of glazed tablewares, paints, cosmetics, and even intentional ingestion, the most significant for the nonelite, rural majority of the population may have been through background air pollution from mining and smelting of silver and lead ores that underpinned the Roman economy. Here, we determined potential health effects of this air pollution using Arctic ice core measurements of Roman-era lead pollution, atmospheric modeling, and modern epidemiology-based relationships between air concentrations, blood lead levels (BLLs), and cognitive decline.

Chronotherapy with Cinacalcet has a striking effect on inhibition of parathyroid gland proliferation in rats with secondary hyperparathyroidism.

Secondary hyperparathyroidism (sHPT) is a significant clinical complication of CKD leading to bone abnormalities and cardiovascular disease. Current treatment based on activating the parathyroid calcium-sensing receptor (CaSR) using calcimimetics such as Cinacalcet, aims to decrease plasma PTH levels and inhibit the progression of parathyroid hyperplasia. In the present study, we found significant diurnal rhythmicity of Casr, encoding the Cinacalcet drug target in hyperplastic parathyroid glands (p = 0.

Enhancing muscle and brain resilience: The role of prehabilitative exercise in mitigating disuse effects.

Short-term disuse leads to rapid declines in muscle mass and strength. These declines are driven by changes at all levels of the neuromuscular system; the brain, spinal cord and skeletal muscle. In addition to neural input from the central and peripheral nervous systems to the muscle, molecular factors originating in the muscle can be transported to the central nervous system.

Burden of Infections in Early Life and Risk of Infections and Systemic Antibiotics Use in Childhood.

Importance: A high infection burden in early childhood is common and a risk factor for later disease development. However, longitudinal birth cohort studies investigating early-life infection burden and later risk of infection and antibiotic episodes are lacking.

Objective: To investigate whether early-life infection burden is associated with a later risk of infection and systemic antibiotic treatment episodes in childhood.

Fluoride Exposure and Children's IQ Scores: A Systematic Review and Meta-Analysis.

Importance: Previous meta-analyses suggest that fluoride exposure is adversely associated with children's IQ scores. An individual's total fluoride exposure comes primarily from fluoride in drinking water, food, and beverages.

Objective: To perform a systematic review and meta-analysis of epidemiological studies investigating children's IQ scores and prenatal or postnatal fluoride exposure.

Infectious disease hospitalization after receipt of human papillomavirus vaccine: a nationwide register-based cohort study among Danish, Finnish, Norwegian, and Swedish girls.

It has been suggested that non-live vaccines may increase susceptibility to non-targeted infections and that such deleterious non-specific effects are more pronounced in girls. We investigated whether receipt of non-live vaccine against human papillomavirus (HPV) was associated with increased risk of infectious disease hospitalization. A nationwide cohort study based on detailed individual-level data from national registries was performed in Denmark, Finland, Norway, and Sweden.

Frequency of emergency medical service contacts after hospital admissions.

Identifying frequent users of Emergency Medical Services (EMS) in the post-discharge period can potentially direct interventions to prevent deterioration at home. This study aimed to describe the frequency of post-discharge emergency phone calls within 30 days after common medical and surgical categories of hospital admission. A retrospective cohort study retrieved data from the electronic medical record and the EMS Capital Region Denmark database after approval by the Danish Health Data Authority.

Links among maternal antenatal attachment, postnatal depressive symptoms and infant crying: a prospective cohort study.

Purpose: This study investigated whether maternal antenatal attachment (MAA) in the third trimester was associated with self-reported problematic infant crying at eight weeks postnatally and explored links with postnatal depressive symptoms.

Methods: A prospective cohort study was conducted with 1287 pregnant participants in Danish general practice. MAA was measured using the Maternal Antenatal Attachment Scale (MAAS) in the third trimester.

Genomic analysis of surgical patients to identify patients at risk for postoperative sepsis and surgical site infection.

Background: Early and accurate diagnosis of sepsis and the ensuing organ dysfunction remain a challenge in the postoperative setting. Susceptibility to infections, as well as the subsequent immunological response, are driven to some extent by the genetic predisposition of the patient. The purpose of this study was to identify novel genetic variants associated with postoperative sepsis (POS) and surgical site infections (SSIs).