Impact of APOE and MAPT genetic profile on the cognitive functions among Amyotrophic Lateral Sclerosis Tunisian patients.

Amyotrophic Lateral Sclerosis(ALS) has traditionally been managed as a neuromuscular disorder. However, recent evidence suggests involvement of non-motor domains. This study aims to evaluate the impact of APOE and MAPT genotypes on the cognitive features of ALS.

Coagulation in familial hypercholesterolemic patients: effect of current hypolipidemic treatment and anticoagulants.

Familial hypercholesterolemia (FH) is a relatively rare genetic disease associated with high serum cholesterol levels but also with abnormalities in blood coagulation. Novel pharmacotherapeutic approaches in FH including proprotein convertase subtilisin/kexin type 9 antibodies (PCSK9Ab) are very efficient in decreasing cholesterol levels but their impact on coagulation in FH is not yet established. Therefore, we hypothesized that these novel antidyslipidemic drugs can positively impact blood coagulation due to their more potent effect on cholesterol.

The economic burden of diabetes in spinal fusion surgery: a systematic review and meta-analysis.

Purpose: This study aimed at comparing the costs of spinal fusion surgery between patients with and without diabetes.

Methods: Following PRISMA guidelines, a systematic search of four databases was conducted. A meta-analysis was performed on comparative studies examining diabetic versus non-diabetic adults undergoing cervical/lumbar fusion in terms of cost.

Basic Science and Pathogenesis.

Background: Numerous studies have highlighted the role of oxidative stress in Alzheimer's disease (AD) development. Yet, the alignment of systemic and central oxidative stress biomarkers is unclear across diverse populations in the AD continuum. This study aims to assess protein damage levels in plasma and cerebrospinal fluid (CSF) within the AD continuum.

Therapeutic potential of mesenchymal stem cells on cholesterol homeostasis-associated genes in AD-like rats.

Cholesterol is vital for nerve processes. Changes in cholesterol homeostasis lead to neurodegeneration and Alzheimer's disease (AD). In recent years, extensive research has confirmed the influential role of adipose tissue mesenchymal stem cells (MSCs) in managing AD.

Detecting somatic variants in purified brain DNA obtained from surgically implanted depth electrodes in epilepsy.

Objective: Somatic variants causing epilepsy are challenging to detect, as they are only present in a subset of brain cells (e.g., mosaic), resulting in low variant allele frequencies.

Patient Characteristics, Diagnoses, and Management in a Combined Uveitis-Rheumatology Clinic.

Introduction: Combined uveitis-rheumatology clinics (combined clinics) are a relatively recent clinical care model. Here we report the demographics, ocular and systemic disease characteristics, and medications utilized in patients seen in a combined clinic at a tertiary care hospital in the USA.

Methods: Medical records were reviewed of patients seen at the Combined Clinic at the University of Colorado Hospital between January 1, 2016 and November 1, 2023.

Potential for enhancing efficacy of screening colonoscopy by lowering starting ages and extending screening intervals: A modelling study for Germany.

Studies aimed to evaluate the expected impact of alternative screening strategies are essential for optimizing colorectal cancer (CRC) screening offers, but such studies are lacking in Germany, where two screening colonoscopies (CS) 10 years apart are offered for men from age 50 and women from age 55. Our aim was to explore whether and to what extent the efficacy of utilizing two CS could be enhanced by alternative starting ages and screening intervals. We modeled the expected numbers of CRC cases, CRC deaths, years of potential life lost (YPLL), and disability-adjusted life years (DALYs) due to CRC in hypothetical cohorts of 100,000 men and women aged 45-85 using COSIMO, a validated Markov-based multi-state simulation model.

Co-delivery of antioxidants and siRNA-VEGF: promising treatment for age-related macular degeneration.

Current treatments for retinal disorders are anti-angiogenic agents, laser photocoagulation, and photodynamic therapies. These conventional treatments focus on reducing abnormal blood vessel formation in the retina, which, in a low-oxygen environment, can lead to harmful proliferation of endothelial cells. This results in dysfunctional, leaky blood vessels that cause retinal edema, hemorrhage, and vision loss.

Basic Science and Pathogenesis.

Background: Sleep dysfunction is commonly seen in Alzheimer's disease (AD) and Progressive Supranuclear Palsy (PSP), potentially worsening these conditions. Investigating early neuropathological changes in human sleep-promoting neurons, which often precede cognitive decline, is crucial for understanding the basis for sleep dysfunction as possible treatments yet remain underexplored. We used postmortem brains of AD and PSP patients to quantify neuronal numbers and tau burden in the intermediate nucleus of the hypothalamus (IntN), VLPO analog, known for its role in sleep maintenance.

Hormonal Therapies for Acne: A Comprehensive Update for Dermatologists.

Introduction: Acne impairs quality of life, often leads to permanent scars, and causes psychological distress. This review aims to update dermatologists on the Federal Drug Administration (FDA)-approved and off-label use of combined oral contraceptives (COC), clascoterone, spironolactone, and emerging hormonal therapies for acne treatment.

Methods: We reviewed current literature on hormonal acne treatments and discussed common patient concerns, barriers to care, and individualized care needs.

Basic Science and Pathogenesis.

Background: Clinicopathological studies of Alzheimer's disease (AD) have demonstrated that synaptic or neuronal loss and clinical cognitive decline do not reliably correlate with fibrillar amyloid burden. We created a transgenic mouse model overexpressing Dutch (E693Q) mutant human amyloid precursor protein (APP) driven by the pan-neuronal Thy1 promoter. Accumulation of APP carboxyl-terminal fragments was observed in the brains of these mice, which develop an impaired learning phenotype directly proportional to brain oAβ levels.

Upregulation of OGT-mediated EZH2 O-GlcNAcylation Promotes Human Umbilical Vein Endothelial Cell Proliferation, Invasion, Migration, and Tube Formation in Gestational Diabetes Mellitus.

O-linked N-acetylglucosamine transferase (OGT)-catalyzed O-linked N-acetylglucosamine glycosylation (O-GlcNAcylation) is closely associated with diabetes progression. This study aims to investigate the mechanism of OGT in regulating endothelial dysfunction in gestational diabetes mellitus (GDM). Expressions of OGT, O-linked N-acetylglucosamine (O-GlcNAc), enhancer of zeste homolog 2 (EZH2), and HEK27me3 in human umbilical vein endothelial cells (HUVECs) and GDM-derived HUVECs (GDM-HUVECs) were assessed by western blot.

Basic Science and Pathogenesis.

Understanding the physiological connection between platelets and brain function reveals new paradigms in neurodegenerative disease treatment. Platelets, traditionally associated with hemostasis, but also sometimes regarded as a mirror of neurons in the blood circulation, also encompass a spectrum of neurobiological roles, including neuroinflammation modulation, neurogenesis, and synaptic remodeling. These roles are primarily mediated through a rich array of bioactive molecules and extracellular vesicles (EVs), capable of traversing the blood-brain barrier.

Accuracy of robot-assisted implant surgery versus freehand placement: a retrospective clinical study.

Purpose: This study evaluated the accuracy of implant placement using a robotic system (Remebot) compared to freehand surgery and explored factors influencing accuracy.

Methods: This retrospective study included 95 implants placed in 65 patients, divided into robot-assisted (50 implants) and freehand (45 implants) groups. Platform, apical, and angular deviations were measured by superimposing preoperative plans and the postoperative CBCT images.

SNP rs6543176 is associated with extreme human longevity but increased risk for cancer.

Using whole-genome sequencing (WGS) might offer insights into rare genetic variants associated with healthy aging and extreme longevity (EL), potentially pointing to useful therapeutic targets. In this study, we conducted a genome-wide association study using WGS data from the Long Life Family Study and identified a novel longevity-associated variant rs6543176 in the SLC9A2 gene. This SNP also showed a significant association with reduced hypertension risk and an increased, though not statistically significant, cancer risk.

Mifepristone achieves tumor suppression and ferroptosis through PR/p53/HO1/GPX4 axis in meningioma cells.

Purpose: This study explores the effects of mifepristone on the proliferation, motility, and invasion of malignant and benign meningioma cells, aiming to identify mifepristone-sensitive types and investigate the underlying molecular mechanisms.

Methods: IOMM-Lee and HBL-52 meningioma cells were treated with 0, vehicle control (VC), 5, 10, 20, 40, and 80 μM of mifepristone for 12, 24, 48, 72, and 96 h. Proliferation was assessed via CCK8 assay, while motility and invasion were measured using wound scratch and transwell assays.

Prevalence and incidence of mastocytosis in adults: a Danish nationwide register study.

Mastocytosis is a group of rare heterogeneous diseases with a prevalence previously found to be 10-23 per 100,000 persons. More awareness and improvements in the diagnostic methods in later years have led to more patients being diagnosed. Here, we set out to present the prevalence and incidence rate of mastocytosis among the adult Danish population.

Association of mental health in childhood, adolescence and young adulthood with cardiovascular risk factors and carotid remodeling below age 30 - results from the KiGGS cohort study.

An association of mental health and in particular depression with cardiovascular disease has been shown in adults and to a lesser extent in the young. Recently improved measurement methods of carotid-intima media thickness (CIMT) and carotid stiffness (CS) allow more differentiated analyses of this link. We examined 4,361 participants of the nationwide KiGGS cohort aged 3-17 years at baseline and 14-28 years at follow-up.

IDO1 inhibitor enhances the effectiveness of PD-1 blockade in microsatellite stable colorectal cancer by promoting macrophage pro-inflammatory phenotype polarization.

Microsatellite stable (MSS) colorectal cancer (CRC) is a subtype of CRC that generally exhibits resistance to immunotherapy, particularly immune checkpoint inhibitors such as PD-1 blockade. This study investigates the effects and underlying mechanisms of combining PD-1 blockade with IDO1 inhibition in MSS CRC. Bioinformatics analyses of TCGA-COAD and TCGA-READ cohorts revealed significantly elevated IDO1 expression in CRC tumors, correlating with tumor mutation burden across TCGA datasets.

Efficacy and safety of Cerebrospinal drains in preventing and managing spinal cord ischemia and Injury: a comprehensive systematic review and meta-analysis.

Spinal cord ischemia and injury pose significant challenges in spinal surgery and traumatic events. Cerebrospinal drains are considered a potential intervention to mitigate these risks, although their efficacy and safety are uncertain. We conducted a comprehensive systematic review and meta-analysis to evaluate the efficacy and safety of cerebrospinal drains in preventing and managing spinal cord ischemia and injury.

Detection of H3F3A K27M or BRAF V600E in liquid biopsies of brain tumor patients as diagnostic and monitoring biomarker: impact of tumor localization and sampling method.

Gliomas are the most common brain tumor type in children and adolescents. To date, diagnosis and therapy monitoring for these tumors rely on magnetic resonance imaging (MRI) and histopathological as well as molecular analyses of tumor tissue. Recently, liquid biopsies (LB) have emerged as promising tool for diagnosis and longitudinal tumor assessment potentially allowing for a more precise therapeutic management.

Effectiveness of Inhalational Tranexamic Acid in Patients with Nonmassive Hemoptysis-A Systematic Review and Meta-Analysis.

Background: Hemoptysis, the expectoration of blood from the lower respiratory tract, varies in severity and necessitates effective management to mitigate morbidity. Traditional treatments include bronchial artery embolization and pharmacological approaches. Tranexamic acid (TXA), an antifibrinolytic agent known for its efficacy in reducing bleeding during surgery and trauma, is being explored for its efficacy in treating Hemoptysis via both intravenous and inhalational routes.

Efficacy and safety of nivolumab and ipilimumab with or without chemotherapy for unresectable non-small cell lung cancer: a multicenter retrospective observational study.

Introduction: Compared to platinum-based therapies, a combination of ipilimumab (anti-CTLA-4) and nivolumab (anti-PD-1) has demonstrated improved outcomes in advanced non-small cell lung cancer (NSCLC), albeit with higher rates of immune-related adverse events (irAEs). This multicenter retrospective study evaluated the efficacy and safety of nivolumab and ipilimumab with or without chemotherapy (NI and NICT) in real-world clinical settings.

Methods: We enrolled 215 treatment-naïve NSCLC patients who received NI or NICT between December 2020 and May 2023 at 14 institutions in Japan.

Clinical characteristics and risk factors for the acquisition of an enteric infection by Aeromonas spp. in patients with digestive or nephrological diseases.

The role of aeromonads as contributors to gastrointestinal pathology remains controversial. The aim of this study was to analyse the clinical characteristics and risk factors for the acquisition of an enteric infection by Aeromonas spp. in patients with digestive or nephrological diseases.