Operationalising a Haemophilia Gene Editing Lexicon for Practical Use.

Introduction: Gene editing therapies offer the possibility of substantial improvement in treatment and quality of life for people with haemophilia (PWH) in a landscape of dynamic therapeutic advancement. Developing a common and understandable language to discuss gene editing will be essential to ensure these treatments can be deployed in a safe and effective manner with fully informed and shared decision-making between healthcare professionals (HCPs) and PWH. A lexicon explaining and clarifying key concepts is one potential tool to address these aims.

Isovalent substitution-induced pseudodoping in ZrxTi1-xSe2 transition metal dichalcogenides.

The crystal and electronic structure of ZrxTi1-xSe2 (0 < x < 1) compounds and their electrical resistivity have been studied in detail for the first time. A combination of soft x-ray spectroscopic methods (XPS, XAS, and ResPES) was used to investigate the electronic structure. The lattice parameters as a function of the metal concentration x obey Vegard's law.

Sodium-glucose cotransporter 2 inhibitors and outcomes in transthyretin amyloid cardiomyopathy: Systematic review and meta-analysis.

Background: Transthyretin amyloid cardiomyopathy (ATTR-CM) commonly leads to heart failure but has traditionally been an exclusion criterion in randomized clinical trials (RCTs) of sodium-glucose cotransporter 2 inhibitors (SGLT2i); therefore, the effects of these drugs in this population remain undocumented. In light of recent studies, this meta-analysis aimed to investigate the effect of SGLT2i on the prognosis of patients with ATTR-CM.

Methods: A comprehensive search of Medline, Scopus, and the Cochrane Library was conducted up to November 17, 2024.

Phenotypical Characterization of Gastroenterological and Metabolic Manifestations in Patients With Williams-Beuren Syndrome.

Gastrointestinal (GI) symptoms are common in patients with Williams-Beuren syndrome (WBS), but their prevalence and possible causes are not yet fully known. This study assessed GI symptoms' prevalence and their possible origin by performing a predefined set of tests in adult WBS patients. Laboratory tests and a questionnaire were administered to assess GI symptoms and dietary habits.

Functional connectivity and metabolic brain alterations in sleepwalkers.

Objective: Disorders of arousal (DoA) are characterized by an intermediate state between wakefulness and deep sleep, leading to incomplete awakenings from NREM sleep. Multimodal studies have shown subtle neurophysiologic alterations even during wakefulness in DoA. The aim of this study was to explore the brain functional connectivity in DoA and the metabolic profile of the anterior and posterior cingulate cortex, given its pivotal role in cognitive and emotional processing.

Boosting Light-Driven CO2 Conversion into CO by a Polypyridine Iron(II) Catalyst Using an Organic Sensitizer.

Direct photochemical conversion of CO2 into a single carbon-based product currently represents one of the major issues in the catalysis of the CO2 reduction reaction (CO2RR). In this work, we demonstrate that the combination of an organic photosensitizer with a heptacoordinated iron(II) complex allows to attain a noble-metal-free photochemical system capable of efficient and selective conversion of CO2 into CO upon light irradiation in the presence of N,N-diisopropylethylamine (DIPEA) and 2,2,2-trifluoroethanol (TFE) as the electron and proton donor, respectively, with unprecedented performances (ΦCO up to 36%, TONCO > 1000, selectivity > 99%). As shown by transient absorption spectroscopy studies, this can be achieved thanks to the fast rates associated with the electron transfer from the photogenerated reduced dye to the catalyst, which protect the dye from parallel degradation pathways ensuring its stability along the photochemical reaction.

Long-Term Effects of Direct-Acting Antivirals on Hepatitis C: Trends in Liver Disease-Related Hospitalisations in Italy.

This study aimed to evaluate the effectiveness of direct-acting antivirals (DAAs) on hepatitis C virus (HCV) hospitalisation trends in Italy, the country with not only the highest burden of HCV-related disease but also the highest number of patients treated for chronic HCV infection in Europe. Incident hospital discharge records in Italy from 2012 to 2019 that included a liver cirrhosis diagnosis without mention of alcohol, hepatocellular carcinoma (HCC), HCV and liver cirrhosis without mention of alcohol and/or HCC, cirrhosis with mention of alcohol, as defined by the International Classification of Diseases (ICD-9-CM) were reviewed. An interrupted time series analysis compared the incidence of cirrhosis and HCC before and after the introduction of DAAs (Year 2015).

Association of MASLD Phenotypes With Liver Fibrosis in Hepatitis C: The Role of Cardiometabolic Risk Factors.

Steatotic liver disease is prevalent among people with hepatitis C virus (HCV). The new definition of metabolic dysfunction-associated steatotic liver disease (MASLD) emphasises the metabolic drivers of steatosis and recognises its frequent coexistence with other chronic liver diseases, including HCV. We aimed to evaluate the association of coexisting MASLD and HCV with liver fibrosis.

Genome-wide association study identifies QTL and candidate genes for grain size and weight in a Triticum turgidum collection.

Wheat breeders are constantly looking for genes and alleles that increase grain yield. One key strategy is finding new genetic resources in the wild and domesticated gene pools of related species with genes affecting grain size. This study explored a natural population of Triticum turgidum (L.

Protein biochemistry and engineering drive the development of a carbonic anhydrase-based carbon dioxide sequestration strategy.

The sequestration of carbon dioxide using carbonic anhydrase (CA) is one of the most effective methods for mitigating global warming. The burning of fossil fuels releases large quantities of flue gas; because of its high temperature and of the alkaline conditions required for CaCO precipitation in the mineralization process, thermo-alkali-stable CAs are needed. In this context, Manyumwa et al.

Postprandial time in tight range with faster insulin aspart compared with standard insulin aspart in youth with type 1 diabetes using automated insulin delivery.

Aims: The aim of this study was to assess postprandial glycaemic outcomes using automated insulin delivery with faster acting insulin aspart (FIA) or standard insulin aspart (SIA) over 4 weeks in youth (aged 10-18 years) with type 1 diabetes.

Materials And Methods: We undertook a secondary analysis of postprandial glycaemic outcomes from a double-blind, randomised, crossover study comparing FIA to SIA using an investigational version of MiniMed™ 780G. Endpoints included postprandial time in tight range (70-140 mg/dL; TITR), postprandial glucose excursions and peak glucose, and incremental area under curve (iAUC).

Veno-venous extracorporeal membrane oxygenation (VV-ECMO) for acute poisonings in United States: a retrospective analysis of the Extracorporeal Life Support Organization Registry.

Introduction: Veno-arterial extracorporeal membrane oxygenation is frequently considered and implemented to help manage patients with cardiogenic shock from acute poisoning. However, utilization of veno-venous extracorporeal membrane oxygenation in acutely poisoned patients is largely unknown.

Method: We conducted a retrospective study analyzing the epidemiologic, clinical characteristics and survival of acutely poisoned patients placed on veno-venous extracorporeal membrane oxygenation using the Extracorporeal Life Support Organization registry.

Frontline Voice: AO Spine Member Survey Regarding Spine Oncology Knowledge Generation and Translation Needs.

Study Design: cross-sectional survey.

Objectives: To evaluate AO Spine members' practices and comfort in managing metastatic and primary spine tumors, explore the use of decision-support and patient assessment tools, and identify knowledge gaps and future needs in spine oncology.

Methods: An online survey was distributed to AO Spine members to query comfort levels with key decisions in spinal oncology management, utilization of decision frameworks and spine oncology-specific instruments, and educational material preferences.

Nanoparticle-protein corona enhances accuracy of Ca-19.9-based pancreatic cancer classification.

Among the various types of pancreatic cancers, pancreatic ductal adenocarcinoma (PDAC) is the most lethal and aggressive, due to its tendency to metastasize quickly and has a particularly low five-year survival rate. Carbohydrate antigen 19-9 (CA 19-9) is the only biomarker approved by the Food and Drug Administration for PDAC and has been a focal point in diagnostic strategies, but its sensitivity and specificity are not sufficient for early and accurate detection. To address this issue, we introduce a synergistic approach combining CA 19-9 levels with a graphene oxide (GO)-based blood test.

Personalized Photoprotection: Expert Consensus and Recommendations From a Delphi Study Among Dermatologists.

Background: Recommending comprehensive personalized photoprotection requires an accurate assessment of the patient's skin, including phototype, lifestyle, exposure conditions, environmental factors, and concomitant cutaneous conditions as well as deep knowledge of the available options: sunscreen ingredients (type of filters, spectrum coverage, sun protection factor, enhanced active ingredients), oral photoprotection, and other methods of sun protection and avoidance.

Objectives: To establish consensus-based recommendations endorsed by an international panel of experts for personalized medical photoprotection recommendations that are applicable globally.

Methods: A two-round Delphi study was designed to determine the degree of agreement and relevance of aspects related to personalized medical photoprotection.

A New Design for Aortic Arch Surgery: Ex Vivo Implantation and Computerized Flow Evaluation of the ISLAND Graft.

Objective: Both the en bloc island technique and the branched graft technique (BGT) present advantages but also limitations in aortic arch surgery. Here is the first presentation of an innovative prosthesis for aortic arch replacement, conceived to overcome the disadvantages of both techniques.

Methods: The novel ISLAND graft is a tubular Dacron or hybrid prosthesis with an additional extended Dacron graft ("bubble") on the superior aspect, for en bloc island graft anastomosis.

A BiO-Optimizing Site Targeted (BOOST) Approach to Periodontal Regeneration Through Local Doxycycline Prior to Surgery: A Randomized Clinical Trial.

Aim: To test a BiO-Optimizing Site Targeted (BOOST) approach to periodontal regeneration by the adjunctive use of locally delivered doxycycline (DOX) 2 weeks prior to minimally invasive surgery in terms of clinical and radiographic outcomes at 1 year.

Methods: For this randomized clinical trial, stage III/IV periodontitis patients presenting sites with intrabony defects and bleeding on probing (BoP+) after steps 1-2 of periodontal treatment were included. Sites were treated via subgingival instrumentation with or without a BOOST approach by local DOX.

New approaches in childhood IgE-mediated food allergy treatment.

Purpose Of Review: This review aims to provide an overview of the current and future treatment options for children with food allergies (FAs), highlighting the latest research findings and the potential impact of these new approaches on improving patients' and caregivers' quality of life.

Recent Findings: In the last decade, many promising approaches have emerged as an alternative to the standard avoidance of the culprit food with the risk of severe accidental reactions. Desensitization through oral immunotherapy has been introduced in clinical settings as a therapeutic approach, and more recently also omalizumab.

Mechanisms of CO oxidation on high entropy spinels.

The CO oxidation reaction on (Co,Mg,Mn,Ni,Zn)(Al,Co,Cr,Fe,Mn)O and (Cr,Mn,Fe,Co,Ni)O high entropy spinel oxides was studied for what concerns its mechanism by means of soft X-ray absorption spectroscopy. In the (Cr,Mn,Fe,Co,Ni)O high entropy spinel, CO oxidation starts at 150 °C, and complete conversion to CO is obtained at 300 °C. For the (Co,Mg,Mn,Ni,Zn)(Al,Co,Cr,Fe,Mn)O spinel oxides, in contrast, the reaction starts at 200 °C, and complete conversion needs temperatures of the order of 350 °C.

Cutaneous involvement in multiple myeloma. A rare entity.

Cutaneous involvement in multiple myeloma is rare and may present as nodules mimicking other lymphoid neoplasms. It typically occurs late in the course of the disease and is associated with an aggressive clinical course and poor prognosis.

Unusual cholesterol crystal formation in a rare clinical case report of splenic echinococcal cyst in a patient from Sardinia, Italy.

Cystic echinococcosis (CE) is a zoonotic disease caused by sensu lato, the metacestode of a tapeworm parasite of high medical importance. Infection of the parasite leads to the development of echinococcal cysts, and the spleen is a rarely infected organ. A 46-year-old woman who was born and who resides in Sardinia, Italy, was referred to the Echinococcosis outpatient clinic at the University Hospital of Sassari (Sardinia, Italy) for a pain in the left flank.

From Flies to Humans: Conserved Roles of CEBPZ, NOC2L, and NOC3L in rRNA Processing and Tumorigenesis.

NOC1, NOC2, and NOC3 are conserved nucleolar proteins essential for regulating ribosomal RNA (rRNA) maturation, a process critical for cellular homeostasis. NOC1, in and yeast, enhances nucleolar activity to sustain rRNA processing, whereas its depletion leads to impaired polysome formation, reduced protein synthesis, and apoptosis. These genes have vertebrate homologs called CEBPZ, NOC2L, and NOC3l.

Lithospheric strike-slip faulting in central Tibet since 35-32 Ma and implications for the incipient Asian extrusional tectonics.

The onset age and depth of the central Tibet strike-slip faults are two still unresolved fundamental issues with regard to the Cenozoic tectonic evolution of central Tibet. Here we present a comprehensive dataset of geochronological, geochemical and structural data on recently discovered en-echelon dykes representing the incipient development of strike-slip faulting from the Lunpola basin in central Tibet. Our results provide evidence for mantle-derived, bimodal magmatism linked to lithospheric-scale strike-slip faulting at 35-32 Ma, and demonstrate that the central Tibet strike-slip faults are at least 20 Ma older than previously estimated (15-8 Ma).