Segmental brainstem myoclonus in ADCK3-Related ataxia: A novel phenomenon?

Segmental Brainstem Myoclonus (SBM) is a rare movement disorder characterized by rhythmic contractions of muscles innervated by brainstem segments. We report a 20-year-old patient with ADCK3-related spinocerebellar ataxia type 9 (SCAR9) presenting with sudden-onset myoclonic movements of the throat, tongue, and soft palate. Brain MRI showed stable findings, including dentate nucleus hyperintensities.

Live-cell imaging of circular and long non-coding RNAs associated to FUS pathological aggregates by Pepper fluorescent RNA.

Lately, important advancements in visualizing RNAs in fixed and live cells have been achieved. While mRNA imaging techniques are well-established, the development of effective methods for studying non-coding RNAs (ncRNAs) in living cells are still challenging but necessary, as they show a variety of functions and intracellular localizations, including participation in highly dynamic processes like phase-transition, which is still poorly studied in vivo. Addressing this issue, we tagged two exemplary ncRNAs with the fluorescent RNA (fRNA) Pepper.

Outcomes and prognostic indicators in daratumumab-refractory multiple myeloma: a multicenter real-world study of elotuzumab, pomalidomide, and dexamethasone in 247 patients.

Background: Daratumumab-refractory multiple myeloma (Dara-R MM) presents a significant treatment challenge. This study aimed to evaluate the efficacy and survival outcomes of elotuzumab, pomalidomide, and dexamethasone (EloPd) in a large, real-world cohort of patients with Dara-R MM, with particular focus on progression-free survival (PFS) and overall survival (OS).

Materials And Methods: This retrospective analysis included 247 Dara-R MM patients treated with EloPd.

Characterizing the ideal patient for treatment with inotuzumab ozogamicin for relapsed/refractory acute lymphoblastic leukemia: a systematic literature review.

Introduction: Inotuzumab ozogamicin(InO) is indicated for the treatment of adults with relapsed or refractory(R/R) acute lymphoblastic leukemia (ALL). This systematic literature review (CRD42022330496) assessed outcomes bybaseline characteristics for patients with R/R ALL treated with InO to identifywhich patients may benefit most.

Methods: In adherencewith PRISMA guidelines, searches were run in Embase and MEDLINE.

Hypoparathyroidism: Similarities and differences between Western and Eastern countries.

Backgroud: Hypoparathyroidism (hypoPT) is characterized by acute and chronic complications due to insufficient parathyroid hormone (PTH) production or action. Several management guidelines have been developed, but mostly based on evidence from Western countries. Data from Eastern countries have not been systematically compared with those from Western countries.

Rigidity in Parkinson's Disease: The Objective Effect of Levodopa.

Background: Quantitative evidence of levodopa-induced beneficial effects on parkinsonian rigidity in Parkinson's disease (PD) is lacking. Recent research has demonstrated the velocity-dependent nature of objective rigidity in PD and revealed its neural underpinning.

Objective: The present study aimed to examine the effect of levodopa on objective rigidity in PD.

Potential guidelines for cataract surgery and rehabilitation in visually impaired patients: Literature analysis.

Cataracts can reduce the quality of vision in visually impaired patients who already have a visual impairment. The most common causes of low vision include age-related macular degeneration (AMD), high myopia (HM), diabetic retinopathy (DR), glaucoma (GL), and inherited degenerative ocular diseases. The surgery aims to improve their independence, quality of life, and ability to engage in daily, social, and work activities.

Clinical Outcomes According to the Extent of Atherosclerotic Disease in Female Patients Undergoing Transcatheter Aortic Valve Replacement: An Analysis From the WIN-TAVI Registry.

Background: Limited data exist on the impact of polyvascular disease (PolyVD) on clinical outcomes in female patients undergoing transcatheter aortic valve replacement (TAVR). We therefore sought to investigate clinical outcomes in women with versus without PolyVD undergoing TAVR.

Methods: Female participants from the multicentre Women's International Transcatheter Aortic Valve Implantation (WIN-TAVI) registry were categorized based on the presence or absence of PolyVD.

Influence of Persistently Elevated LDL Values on Carotid Intima Media Thickness in Elite Athletes.

Introduction: Carotid IMT is a recognized marker for early atherosclerotic changes and a predictor of future CV events. Previous studies showed 11% increased risk of myocardial infarction with each 0.1 mm incremental increase of carotid IMT.

Prognostic Value of Advanced Echocardiographic Analysis for Transcatheter Aortic Valve Replacement: A Systematic Review.

Transcatheter aortic valve implantation (TAVI) is the main treatment option for patients with severe aortic stenosis (AS) and older age. Improved imaging techniques have enabled better patient selection, and the main role is played by echocardiography. Methods more sensitive than LVEF in assessing cardiac function, such as global longitudinal strain (GLS) and myocardial work (MW), have become widespread, and other methods, like hemodynamic forces (HDFs), might be promising.

Osteoporosis in Older Men: Informing Patient Management and Improving Health-Related Outcomes.

Osteoporosis has been usually considered a female disease, generally causing more fracture risk and complications in adult and older women compared to older men. While vertebral fractures occur in a small proportion of men during middle age, men generally fracture about 10 years later than women, with significant increases in fracture risk after about age 75. Independent of age, men experiencing fragility fractures have a higher risk of life-threatening events compared to women, but the risk of secondary fragility fracture overlaps between men and women.

End-procedural adherence to recommended hemodynamic targets does not improve the outcome of elective tips in cirrhotic patients.

Background Aims: In clinical practice, the reduction of porto-caval pressure gradient (PCPG) following trans-jugular intra-hepatic porto-systemic shunt (TIPS) does not always meet the recommendation of current guidance. We evaluated the impact of different degrees of PCPG reduction, measured at the end of an elective TIPS, on ascites control, recurrence of portal hypertension-related bleeding (PHRB) and survival.

Approach And Results: Cirrhotic patients receiving TIPS for refractory ascites (RA) or for the secondary prophylaxis of PHRB were consecutively enrolled.

Intrathecal fluorescein guidance in the treatment of intracranial hypotension due to spinal CSF-venous fistula.

Among the causes of spontaneous intracranial hypotension (SIH), cerebrospinal fluid (CSF)-venous fistulas (CVFs) represent a recently discovered and poorly understood aetiology, for which invasive treatment (surgery vs endovascular treatment) may be required. However, CVFs are not always immediately identified during surgery. We describe a case of a woman with a 2-year history of SIH who was found to harbour a T8 CVF.

Combined single-photon emission computed tomography-myocardial perfusion imaging with coronary calcium score for assessing coronary disease.

Purpose: Coronary artery disease (CAD) underestimation represents a major pitfall of single-photon emission computed tomography-myocardial perfusion imaging (SPECT-MPI). Coronary artery calcium score (CACS) has emerged as a sensitive tool for the assessment of suspect CAD; however, the integration of SPECT-MPI with CACS has been seldom evaluated, so far, and was therefore the aim of the present study.

Methods: Patients undergoing SPECT-MPI with CACS and subsequent coronary angiography were included.

Safety and Efficacy of opioid-sparing Anesthesia Compared with Traditional opioid-anesthesia: A Scoping Review.

Objectives: The rationale of adoption opioid sparing anesthesia (OSA) is to achieve perioperative analgesia with a minimal amount of opioid combined to non-opioid adjuvants during and after surgery, namely multimodal anesthesia. The OSA approach was originally developed to overcome the known complications of opioid-based anesthesia (OA) and the present scoping review (ScR) aims at providing the clinical evidence of safety and efficacy of OSA with respect to OA.

Methods: This ScR is mainly focused on studies presenting evidence on the safety and efficacy of OSA versus OA.

Helminthiasis and mpox vaccination: challenges in Sub-Saharan Africa.

The ongoing mpox outbreak in sub-Saharan Africa has highlighted the critical need for equitable vaccine access and robust logistical support. However, these factors alone are insufficient to ensure the success of vaccination campaigns in regions characterized by unique epidemiological and immunological challenges. One significant issue is the high prevalence of helminth infections, which are known to impair immune responses to vaccines, potentially reducing both short-term efficacy and long-term antibody titers.

Arrhythmia Detection by Data Fusion of ECG Scalograms and Phasograms.

The automatic detection of arrhythmia is of primary importance due to the huge number of victims caused worldwide by cardiovascular diseases. To this aim, several deep learning approaches have been recently proposed to automatically classify heartbeats in a small number of classes. Most of these approaches use convolutional neural networks (CNNs), exploiting some bi-dimensional representation of the ECG signal, such as spectrograms, scalograms, or similar.

A Case Series Report on the Effect of Tofacitinib on Joint Inflammation and Gut Microbiota Composition in Psoriatic Arthritis Patients Naive to Biologic Agents.

Introduction: Psoriatic arthritis (PsA) is a complex condition within the Spondyloarthritis (SpA) group. Recent studies have focused on the important role of the intestinal microbiota in maintaining immunological homeostasis, highlighting how intestinal dysbiosis may act as a trigger for autoimmune diseases. Tofacitinib is a Janus kinase inhibitor (JAK-i) with proven efficacy for the treatment of both rheumatoid arthritis and PsA.

Antibacterial and Anti-Influenza Activities of -Heterocyclic Carbene-Gold Complexes.

Background/objectives: Infectious diseases represent a serious threat due to rising antimicrobial resistance, particularly among multidrug-resistant bacteria and influenza viruses. Metal-based complexes, such as -heterocyclic carbene-gold (NHC-gold) complexes, show promising therapeutic potential due to their ability to inhibit various pathogens.

Methods: Eight NHC-gold complexes were synthesized and tested for antibacterial activity against , , and for anti-influenza activity in lung and bronchial epithelial cells infected with influenza virus A/H1N1.

Carotenoid Interactions with PCSK9: Exploring Novel Cholesterol-Lowering Strategies.

: This study investigated the potential of green algae-derived carotenoids as natural inhibitors of the proprotein convertase subtilisin/kexin type 9 (PCSK9), a key regulator of cholesterol metabolism. PCSK9 promotes the degradation of low-density lipoprotein receptors (LDLR), thereby increasing blood cholesterol levels and elevating the risk of cardiovascular diseases. /: We screened the pharmacophore fit score of 27 carotenoids with PCSK9 and identified 14 that were analyzed for binding affinity and molecular interactions.

Modulatory Effect of Cucurbitacin D from on ZNF217 Oncogene Expression in NPM-Mutated Acute Myeloid Leukemia.

The expression of oncogene zinc-finger protein 217 (ZNF217) has been reported to play a central role in cancer development, resistance, and recurrence. Therefore, targeting ZNF217 has been proposed as a possible strategy to fight cancer, and there has been much research on compounds that can target ZNF217. The present work investigates the chemo-preventive properties of cucurbitacin D, a compound with a broad range of anticancer effects, in hematological cancer cells, specifically with regard to its ability to modulate ZNF217 expression.

Aged Garlic Extract (AGE) and Its Constituent S-Allyl-Cysteine (SAC) Inhibit the Expression of Pro-Inflammatory Genes Induced in Bronchial Epithelial IB3-1 Cells by Exposure to the SARS-CoV-2 Spike Protein and the BNT162b2 Vaccine.

Garlic ( L.) is a species of the onion family () widely used as a food and a folk medicine. The objective of this study was to determine the effects of AGE (aged garlic extract) on pro-inflammatory genes relevant to COVID-19.

Targeting EZH2 in Cancer: Mechanisms, Pathways, and Therapeutic Potential.

Enhancer of zeste homolog 2 (EZH2) is a methyltransferase involved in cell cycle regulation, cell differentiation, and cell death and plays a role in modulating the immune response. Although it mainly functions by catalyzing the tri-methylation of H3 histone on K27 (H3K27), to inhibit the transcription of target genes, EZH2 can directly methylate several transcription factors or form complexes with them, regulating their functions. EZH2 expression/activity is often dysregulated in cancer, contributing to carcinogenesis and immune escape, thereby representing an important target in anti-cancer therapy.