Systemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital Aniridia.

Introduction: Congenital aniridia is increasingly recognized as part of a complex syndrome with numerous ocular developmental anomalies and non-ocular systemic manifestations. This requires comprehensive care and treatment of affected patients. Our purpose was to analyze systemic diseases in patients with congenital aniridia within the Homburg Aniridia Registry.

Administration and Monitoring Burden of High-Efficacy Disease-Modifying Therapies for Multiple Sclerosis: A Delphi Consensus of Clinical Experts from Saudi Arabia.

Introduction: The emergence of high-efficacy disease-modifying therapies (HE DMT) for multiple sclerosis (MS) may pose challenges to the administration and monitoring burden of the therapies. This article presents the results of the Delphi consensus method to generate insights from experts on the administration and monitoring burden of HE DMT in Saudi Arabia with a special focus on cladribine.

Methods: Between January and March 2023, a two-round modified Delphi method was used to establish consensus regarding the administration and monitoring burden of HE DMTs used for MS.

Short-term Patient-Reported Outcomes Following Bilateral Risk-Reducing Mastectomy for Patients at a High Risk for Breast Cancer: A Systematic Review.

Background: Bilateral risk-reducing mastectomies (RRMs) have been proven to decrease the risk of breast cancer in patients at high risk owing to family history or having pathogenic genetic mutations. However, few resources with consolidated data have detailed the patient experience following surgery. This systematic review features patient-reported outcomes for patients with no breast cancer history in the year after their bilateral RRM.

The sarcoma ring trial: a case-based analysis of inter-center agreement across 21 German-speaking sarcoma centers.

Purpose: The management of soft tissue sarcoma (STS) at reference centers with specialized multidisciplinary tumor boards (MTB) improves patient survival. The German Cancer Society (DKG) certifies sarcoma centers in German-speaking countries, promoting high standards of care. This study investigated the variability in treatment recommendations for localized STS across different German-speaking tertiary sarcoma centers.

C19orf12 gene variants causing mitochondrial membrane protein-associated neurodegeneration (MPAN).

Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurodegenerative disorder characterized by spastic paraplegia, parkinsonism and psychiatric and/or behavioral symptoms caused by variants in gene encoding chromosome-19 open reading frame-12 (C19orf12). We present here seven patients from six unrelated families with detailed clinical, radiological, and genetic investigations. Childhood-onset patients predominantly had a spastic ataxic phenotype with optic atrophy, while adult-onset patients were presented with cognitive, behavioral, and parkinsonian symptoms.

In-vitro and in-vivo assessment of biocompatibility and efficacy of ostrich eggshell membrane combined with platelet-rich plasma in Achilles tendon regeneration.

Tendon injuries present significant medical, social, and economic challenges globally. Despite advancements in tendon injury repair techniques, outcomes remain suboptimal due to inferior tissue quality and functionality. Tissue engineering offers a promising avenue for tendon regeneration, with biocompatible scaffolds playing a crucial role.

Serial biomarker measurements may be helpful to predict the successful application of high flow nasal cannula in COVID-19 pneumonia patients.

High flow nasal cannula (HFNC) can reduce the need for intubation in patients with coronavirus disease-19 (COVID-19) pneumonia induced acute hypoxemic respiratory failure (AHRF), but predictors of HFNC success could be characterized better. C-reactive protein (CRP) and D-dimer are associated with COVID-19 severity and progression. However, no one has evaluated the use of serial CRP and D-dimer ratios to predict HFNC success.

Copy Number Variation in Asthma: An Integrative Review.

Asthma is a complex disease with varied clinical manifestations resulting from the interaction between environmental and genetic factors. While chronic airway inflammation and hyperresponsiveness are central features, the etiology of asthma is multifaceted, leading to a diversity of phenotypes and endotypes. Although most research into the genetics of asthma focused on the analysis of single nucleotide polymorphisms (SNPs), studies highlight the importance of structural variations, such as copy number variations (CNVs), in the inheritance of complex characteristics, but their role has not yet been fully elucidated in asthma.

Climate change impact on water treatment plants: analysis of chlorophyll-a levels and process performance.

Climate change significantly impacts the risk of eutrophication and, consequently, chlorophyll-a (Chl-a) concentrations. Understanding the impact of water flows is a crucial first step in developing insights into future patterns of change and associated risks. In this study, the Statistical DownScaling Model (SDSM)-a widely used daily downscaling method-is implemented to produce downscaled local climate variables, which serve as input for simulating future hydro-climate conditions using a hydrological model.

Propyl paraben removal using CuO/ZnO-NPs photocatalyst elaborated via green method.

The aim of the present work is to investigate the photocatalytic degradation of propyl paraben (propyl para-hydroxybenzoate, PrP) using CuO-ZnO-NPs photocatalyst followed by the identification of the oxidation by-products. The CuO-ZnO-NPs material, synthesized using a green chemistry approach, was used as a photocatalyst for the removal of PrP. The nanoparticles were characterized by XRD, XRF, diffuse reflectance spectroscopy, ATG/DTG, FTIR, SEM-EDX, BET and FRX techniques.

Machine learning techniques for non-destructive estimation of plum fruit weight.

Plum fruit fresh weight (FW) estimation is crucial for various agricultural practices, including yield prediction, quality control, and market pricing. Traditional methods for estimating fruit weight are often destructive, time-consuming, and labor-intensive. In this study, we addressed the problem of predicting plum FW using artificial intelligence (AI) methods based on fruit dimensions.

Effectiveness of a protocol with antimicrobial photodynamic therapy for treating osteoradionecrosis: a retrospective study.

Objective: To compare the treatment of osteoradionecrosis (ORN) using a protocol that incorporates antimicrobial photodynamic therapy with a conventional treatment protocol.

Methodology: This retrospective study analyzed 55 patients diagnosed with ORN at a reference hospital between 2002 and 2021. Patients were treated using two different clinical protocols.

The impact of spillover and crossover effects of job stressors on pregnancy rates in couples undergoing in vitro fertilization treatments.

Purpose: Studies have shown mixed findings regarding the impact of stress on the success of fertility treatments. To the best of our knowledge, stress in the context of the workplace has not been investigated to date in relation to the success of fertility treatments. This research investigates the impact of work-related stress and emotional exhaustion experienced by both partners on in vitro fertilization (IVF) treatment outcomes.

Immunopathogenesis and immunotherapy of diabetes-associated periodontitis.

Objectives: This paper aims to review the immunopathogenesis of Diabetes-associated periodontitis (DPD) and to propose a description of the research progress of drugs with potential clinical value from an immunotherapeutic perspective.

Materials And Methods: A comprehensive literature search was conducted in PubMed, MEDLINE, Embase, Web of Science, Scopus and the Cochrane Library. Inclusion criteria were studies on the association between diabetes and periodontitis using the Boolean operator "AND" for association between diabetes and periodontitis, with no time or language restrictions.

Medical & Socioeconomic Risk Factors Associated with Lack of Neurodevelopmental Evaluation Following Neonatal Cardiac Surgery.

Neonates with congenital heart disease (CHD) who undergo cardiopulmonary bypass (CPB) are at high-risk for unfavorable neurodevelopmental (ND) outcomes and are recommended for ND evaluation (NDE); however, poor rates have been reported. We aimed to identify risk factors associated with lack of NDE. This single-center retrospective observational study included neonates < 30 days old who underwent CPB and survived to discharge between 2012 and 2018.

Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search.

There are hundreds of rare syndromic diseases involving hearing loss, many of which are not targeted for clinical genetic testing. We systematically explored the genetic causes of undiagnosed syndromic hearing loss using a combination of whole exome sequencing (WES) and a phenotype similarity search system called PubCaseFinder. Fifty-five families with syndromic hearing loss of unknown cause were analyzed using WES after prescreening of several deafness genes depending on patient clinical features.

Effects of genetic mutations on left ventricular myocardial mechanics and fibrosis patterns in hypertrophic cardiomyopathy.

Myocyte disarray and fibrosis are underlying pathologies of hypertrophic cardiomyopathy (HCM) caused by genetic mutations. However, the extent of their contributions has not been extensively evaluated. In this study, we investigated the effects of genetic mutations on myofiber function and fibrosis patterns in HCM.

3D CT to 2D X-ray image registration for improved visualization of tibial vessels in endovascular procedures.

Purpose: During endovascular revascularization interventions for peripheral arterial disease, the standard modality of X-ray fluoroscopy (XRF) used for image guidance is limited in visualizing distal segments of infrapopliteal vessels. To enhance visualization of arteries, an image registration technique was developed to align pre-acquired computed tomography (CT) angiography images and to create fusion images highlighting arteries of interest.

Methods: X-ray image metadata capturing the position of the X-ray gantry initializes a multiscale iterative optimization process, which uses a local-variance masked normalized cross-correlation loss to rigidly align a digitally reconstructed radiograph (DRR) of the CT dataset with the target X-ray, using the edges of the fibula and tibia as the basis for alignment.

Toward structured abdominal examination training using augmented reality.

Purpose: Structured abdominal examination is an essential part of the medical curriculum and surgical training, requiring a blend of theory and practice from trainees. Current training methods, however, often do not provide adequate engagement, fail to address individual learning needs or do not cover rare diseases.

Methods: In this work, an application for structured Abdominal Examination Training using Augmented Reality (AETAR) is presented.