Patient-Specific Regulatory Network Rewiring in Inflammatory Bowel Disease: How Genetic Polymorphisms Divert Incoming Signals and Contribute to Disease Pathogenesis.

Background: Intestinal cells receive incoming signals from neighboring cells and microbial communities. Upstream signaling pathways transduce these signals to reach transcription factors (TFs) that regulate gene expression. In inflammatory bowel disease (IBD), most single nucleotide polymorphisms (SNPs) are in non-coding genomic regions containing TF binding sites.

Cross-cultural adaptation, validity and reliability of the Dutch version of the Lymphedema Symptom Intensity and Distress Survey-Head and Neck version 2.0 (LSIDS-H&N v2.0) in head and neck cancer patients.

Purpose: This study aims to cross-culturally validate the Dutch version of the Lymphedema Symptom Intensity and Distress Survey-Head and Neck version 2.0 (LSIDS-H&N v2.0).

Role for long term treatment in NMOSD induced by the immune checkpoint inhibitor cemiplimab.

We present the case of a 54-year-old patient treated with cemiplimab, an immune checkpoint inhibitor (ICI), for multiple basal cell carcinomas in the context of Gorlin Goltz syndrome. Gorlin Goltz syndrome is an autosomal dominant multisystem disorder characterized, among other features, by multiple early-onset basal cell carcinomas (BCCs). After receiving Cemiplimab, she developed aquaporin-4 antibody (AQP4-Ab) positive neuromyelitis optica spectrum disorder (NMOSD).

What is the impact of the fracture location on patient-reported functional outcomes in patients with lateral tibial plateau fractures?

Background: Lateral-sided tibial plateau fractures are most common and can range from minor to very extensive injuries of the lateral plateau. The impact of fracture location and extent on functional outcomes remains unclear. This study aimed to investigate this relationship.

Biomechanics of manual-bent versus patient-specific mandibular implants.

The patient-specific mandibular reconstruction plate (PSMRP) has gained prominence for its precise adaptation to mandibular contours and reported enhanced mechanical reliability compared to the manual-bent mandibular reconstruction plate (MBMRP). Despite this, a biomechanical comparison between MBMRP and PSMRP is essential for informed clinical decision-making and advancing the field of mandibular reconstruction. Thereupon, biomechanical behavior was compared between two reconstructed mandibles with the MBMRP made of commercial pure titanium plate and the PSMRP stemmed from a common ramus reconstruction case, respectively, in physiological simulation using finite element analyses.

Aspergillus and Host-Pathogen Interaction: Focus on treatment-relevant aspects.

Background: Invasive aspergillosis (IA) remains a major cause of morbidity and mortality in immunocompromised individuals, with an expanding spectrum of at-risk populations, particularly in the intensive care settings. Despite advances in antifungal pharmacotherapy, treatment outcomes remain suboptimal, and the rise of antifungal resistance highlights the need for adjunctive therapy that leverage host immune mechanisms. The pathogenesis of IA is primarily driven by impaired or dysregulated immune responses to Aspergillus species, mainly Aspergillus fumigatus.

Unravelling the genetic architecture of inflammatory bowel disease multiplex families with rare and common variant polygenic risk scores.

Background And Aims: Inflammatory bowel disease (IBD) often affects multiple relatives, pointing towards shared genetic and/or environmental factors. This study evaluates the importance of known IBD risk variants, and of genetic determinants of smoking in such multiplex families.

Methods: We studied 65 IBD multiplex families, comprising 146 Crohn's disease [CD], 33 ulcerative colitis [UC], and 111 unaffected relatives.

Knowledge and attitudes of post-graduate dental students in Greece towards sleep disorders: A questionnaire-based study.

Aim: To assess sleep medicine and obstructive sleep apnea knowledge and management confidence among Greek dentists.

Methods: Postgraduate dental students at the Aristotle University of Thessaloniki completed the Assessment of Sleep Knowledge in Medical Education (ASKME) and the knowledge and attitudes towards obstructive sleep apnea (OSA) questionnaires (OSAKA) via an online survey from May to December 2022.

Results: The response rate was 77.

Trends in hospital antibacterial consumption: a retrospective analysis of reimbursement data, Belgium 2017 to 2022.

BACKGROUNDThe COVID-19 pandemic has challenged efforts to optimise rational antibacterial use due to uncertainties in treatment protocols.AIMWe investigated the impact of COVID-19 on hospital antibacterial consumption in Belgium from 2017 to 2022, relative to the general and hospitalised population.METHODSWe analysed national reimbursement data using defined daily doses (DDD) and three metrics: DDD/1,000 inhabitants/day (DID), DDD/1,000 patient days (PD) and DDD/1,000 admissions.

European Respiratory Society statement on advanced telemedicine for obstructive sleep apnoea (e-Sleep).

Telemedicine (TM) as a means of remote patient-physician interaction is gaining popularity in nearly every field, and (respiratory) sleep medicine is no exception. Because obstructive sleep apnoea (OSA) is a chronic condition, and requires a continuous treatment and monitoring of therapy success, telematic communications could be useful to establish diagnostic and therapeutic strategies. This Statement summarises the evidence and efficacy of TM options in OSA.

Cerebrovascular Reactivity at Rest and Its Association With Cognitive Function in People With Genetic Frontotemporal Dementia.

Background And Objectives: Cerebrovascular reactivity (CVR) is an indicator of cerebrovascular health, and its signature in familial frontotemporal dementia (FTD) remains unknown. The primary aim was to investigate CVR in genetic FTD using an fMRI index of vascular contractility termed resting-state fluctuation amplitudes (RSFAs) and to assess whether RSFA differences are moderated by age. A secondary aim was to study the relationship between RSFA and cognition.

A (P56S) mutation in a Dutch patient with familial motor neuron disease: a case report.

The c.166C > T p.(Pro56Ser) or P56S mutation in the gene was initially identified as a cause of motor neuron disease in Brazil in a large extended pedigree comprising >1,500 individuals including more than 200 cases.

Timeline of Amelogenesis Imperfecta Management.

Amelogenesis imperfecta is a heterogeneous group of >100 different rare diseases. Affected individuals and families are facing diagnostic uncertainty and wandering and a therapeutic odyssey. Continuous multidisciplinary management from childhood to adulthood is essential, emphasizing the critical role of health care professionals.

Clinical outcomes of intravascular lithotripsy according to the timing of stent failure: Insights from the COIL registry.

Background: Cumulative data has highlighted the efficacy of intra-vascular lithotripsy (IVL) in patients with stent failure (SF). However, it remains unclear whether the effectiveness of IVL, and subsequent clinical outcomes, are influenced by the timing of SF. We aimed to evaluate the outcomes of patients with SF undergoing IVL according to the age of index stent implantation.

Most patients with tibial plateau fractures regain function for daily activities but do not return to their pre-injury level of sport: comparison of multicenter cohort of 1101 patients and age-related peers.

Purpose: The aim was to evaluate patient-reported outcomes - symptoms, pain, activities of daily living (ADL), sports, and quality of life (QoL) - in patients with tibial plateau fractures. Outcomes were compared with those of age-matched peers from the general population to support patient counseling.

Methods: A multicenter cross-sectional study was performed including 1101 patients with tibial plateau fractures between 2003 and 2019.

Muscle activation variability in relation to functional internal rotation in reverse total shoulder arthroplasty.

Background: The use of reverse total shoulder arthroplasty (rTSA) has increased in recent years, thanks to its application versatility. Despite this increase, there exists a significant variability in postoperative functional internal rotation (fIR), affecting patients' daily life independence. Previous literature investigated patient-related, kinematical, and surgical parameters to understand the variability in fIR outcome.

Genetic disorders of dolichol synthesis and utilization.

The polyisoprenoid lipid dolichol is critical for eukaryotic glycosylation. It is used as the membrane anchor for mono- or oligosaccharides transferred during N-glycosylation, O/C-mannosylation and glycosylphosphatidylinositol anchor biosynthesis. Disorders affecting the synthesis or utilization of dolichol cause defective glycosylation and are therefore classified as Congenital Disorders of Glycosylation (CDG).

Orthodontic Treatment in Patients With Epidermolysis Bullosa (EB)-Clinical Practice Guidelines (CPG).

Background: Epidermolysis bullosa (EB) is a rare genetic condition characterized by skin and mucosal fragility. The clinical phenotype is highly variable. Severe types and subtypes, such as junctional EB (JEB), kindler EB (KEB), and recessive dystrophic EB (RDEB), are considered to present a high risk of oral health problems, including malocclusions.

What we cannot miss in clinical trials on compression therapy.

BackgroundCompression therapy (CT) is widely prescribed for chronic venous disease (CVD), lymphedema, and lipedema despite robust evidence supporting its effectiveness only in a minority of clinical scenarios.AimProvide an overview of the methodological parameters essential for obtaining a high-quality scientific trial.MethodsThe International Compression Club (ICC) chairman prepared a preliminary list of the main methodological flaws in publications on CT, and a list of parameters to be included in high-quality randomized controlled trials (RCTs).

SDS-EDTA-treated chromatography paper strips for sampling and transportation of monkeypox virus, varicella zoster virus and herpes simplex 1 and 2 viruses.

Mpox is a viral zoonotic disease characterized by flu-like symptoms followed by rash, which can be difficult to distinguish from other rash-presenting infections. Laboratory diagnosis is essential for confirming monkeypox virus (MPXV) infection; However, challenges in specimen transport and storage in endemic regions, especially in rural areas with limited infrastructure, hinder timely diagnosis. This study evaluates the use of SDS-EDTA-treated chromatography paper strips for testing different viral dilutions of MPXV, varicella-zoster virus (VZV), herpes simplex viruses 1 (HSV-1) and 2 (HSV-2) under different storage durations and temperatures.

Renal Outcomes After Lung or Combined Heart-Lung Transplantation in Pulmonary Hypertension.

Renal impairment is considered a contra-indication for lung (LTX) or combined heart-lung (HLTX) transplantation due to increased mortality. We hypothesized that renal impairment in pulmonary arterial hypertension (PAH) and chronic thromboembolic pulmonary hypertension (CTEPH) is the result of reduced cardiac output and should be partly reversible after LTX. We performed a retrospective analysis in 67 consecutive PAH and CTEPH patients who underwent (H)LTX, to investigate the postoperative evolution of renal function in function of baseline renal function using a mixed model effect test.

Pulmonary endarterectomy for chronic thromboembolic pulmonary hypertension: Technical challenges and controversies.

Chronic thromboembolic pulmonary hypertension requires referral to an expert center for final diagnosis and assessment of treatment possibilities by a multidisciplinary team. Pulmonary endarterectomy is the only potentially curative therapy and therefore remains the treatment of choice. However, many practices and minor technical aspects of this procedure may still provoke controversy.