Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications.

Bicuspid Aortic Valve (BAV) is the most common adult congenital heart lesion with an estimated population prevalence of 1%. We hypothesize that early onset complications of BAV (EBAV) are driven by specific impactful genetic variants. We analyzed whole exome sequences (WES) to identify rare coding variants that contribute to BAV disease in 215 EBAV families.

Biomimetic proteolipid vesicles for reverting GPI deficiency in paroxysmal nocturnal hemoglobinuria.

Nano-vesicular carriers are promising tissue-specific drug delivery platforms. Here, biomimetic proteolipid vesicles (BPLVs) were used for delivery of glycosylphosphatidylinositol (GPI)-anchored proteins to GPI deficient paroxysmal nocturnal hemoglobinuria (PNH) cells. BPLVs were assembled as single unilamellar monodispersed (polydispersity index, 0.

Scale of Assessment of Caregiver Care Burden of People With Dementia: A Systematic Review of Literature.

Cases of dementia have increased significantly in recent years. The family represents the main cornerstone of assistance to the elderly suffering from dementia, in particular the caregiver. Family members who take on the role of caregiver are subjected to physical, psychological, emotional, social and financial stress, which can be conceptualised with the term "burden".

The Sellar Region as Seen from Transcranial and Endonasal Perspectives: Exploring Bony Landmarks Through New Surface Photorealistic Three-Dimensional Model Reconstruction for Neurosurgical Anatomy Training.

Background: Virtual reality-based learning of neuroanatomy is a new feasible method to explore, visualize, and dissect interactively complex anatomic regions. We provide a new interactive photorealistic three-dimensional (3D) model of sellar region microsurgical anatomy that allows side-by-side views of exocranial and endocranial surfaces to be explored, with the aim of assisting young neurosurgery residents in learning microsurgical anatomy of this complex region.

Methods: Four head specimens underwent an endoscopic endonasal approach extended to the anterior and posterior skull base to expose the main bony anatomic landmarks of the sellar region.

Parent-proxy pediatric CMT quality of life outcome measure: Validation of the Italian version.

Background And Aims: The parent-proxy reports can offer complementary informations or be the only source of Quality of Life measurement in young children. The aim of this study was to provide and validate the Italian version of the recently published parent-proxy pCMT-QOL for patients aged 8-18 years old, making it available for possible trials in Italian speaking children.

Methods: The English-language instrument was translated and adapted into the Italian language using standard procedures: translation, transcultural adaptation, and back-translation.

Thrombectomy in Stroke Patients With Low Alberta Stroke Program Early Computed Tomography Score: Is Modified Thrombolysis in Cerebral Infarction (mTICI) 2c/3 Superior to mTICI 2b?

Background And Purpose: Outcomes following mechanical thrombectomy (MT) are strongly correlated with successful recanalization, traditionally defined as modified Thrombolysis in Cerebral Infarction (mTICI) ≥2b. This retrospective cohort study aimed to compare the outcomes of patients with low Alberta Stroke Program Early Computed Tomography Score (ASPECTS; 2-5) who achieved mTICI 2b versus those who achieved mTICI 2c/3 after MT.

Methods: This study utilized data from the Stroke Thrombectomy and Aneurysm Registry (STAR), which combined databases from 32 thrombectomy-capable stroke centers between 2013 and 2023.

Follow-up evaluation and management of anemia in inflammatory bowel disease: A study by the Italian Group for Inflammatory Bowel Diseases (IG-IBD).

Background: The RIDART I study found a 13.6% prevalence of anemia in Italian patients with inflammatory bowel disease (IBD); most cases were due to iron-deficiency anemia (IDA).

Aims: To evaluate changes in hemoglobin concentration during a 24-week follow-up of anemic patients with IBD.

Novel Bacteroides Vulgatus strain protects against gluten-induced break of human celiac gut epithelial homeostasis: a pre-clinical proof-of-concept study.

Background And Aims: We have identified a decreased abundance of microbial species known to have a potential anti-inflammatory, protective effect in subjects that developed Celiac Disease (CeD) compared to those who did not. We aim to confirm the potential protective role of one of these species, namely Bacteroides vulgatus, and to mechanistically establish the effect of bacterial bioproducts on gluten-dependent changes on human gut epithelial functions.

Methods: We identified, isolated, cultivated, and sequenced a unique novel strain (20220303-A2) of B.

Correlation between intravascular pressure gradients and ultrasound velocities in carotid artery stenosis: An exploratory study.

Introduction: Grading of carotid stenosis is routinely performed with non-invasive techniques, such as carotid ultrasound (CUS) and computerized tomography angiography (CTA), which have limitations in grading definition. Moreover, the actual hemodynamic impact of a stenosis remains poorly defined. Preliminary studies explored the application of the resting full-cycle ratio (RFR), measured with pressure wire (PW), but the correlation between RFR and morphological/hemodynamic parameters is still undefined.

Bariatric surgery and dimethyl fumarate-induced lymphopenia in patients with multiple sclerosis.

Introduction: Lymphopenia is a known side effect of dimethyl fumarate (DMF), a disease-modifying therapy (DMT) for patients with multiple sclerosis (pwMS). A body mass index ≥ 30 kg/m has been identified as a protective factor; however, no data are available on lymphopenia in pwMS undergoing to weight loss due to bariatric surgery.

Methods: We described two pwMS with history of bariatric surgery who started DMF as DMT.

[Choosing a tailored prosthetic valve in cardiac surgery: what is the current role of mechanical prostheses?].

The choice of the mechanical/biological heart valve prosthesis is a topic currently debated in the light of the transcatheter prosthetic models and the results obtained/expected with the new biological valve models. Consequently, it seems that increasingly younger patients would be indicated for an implantation of a biological prosthesis. This is also in order to improve the quality of life of patients who want to avoid oral anticoagulant therapy.

Bone Mineral Density and Trabecular Bone Score Changes throughout Menopause in Women with HIV.

Objective: The objectives of this study were to describe the trajectories of bone mineral density (BMD) and trabecular bone score (TBS) changes throughout pre-menopause (reproductive phase and menopausal transition) and post-menopause (early and late menopause) in women with HIV (WWH) undergoing different antiretroviral therapies (ARTs) and explore the risk factors associated with those changes.

Methods: This was an observational longitudinal retrospective study in WWH with a minimum of two DEXA evaluations comprising BMD and TBS measurements, both in the pre-menopausal and post-menopausal periods. Menopause was determined according to the STRAW+10 criteria, comprising four periods: the reproductive period, menopausal transition, and early- and late-menopausal periods.

All Roads Lead to Interferon-γ: From Known to Untraveled Pathways in Acquired Aplastic Anemia.

Bone marrow failure (BMF) syndromes are a heterogeneous group of benign hematological conditions with common clinical features including reduced bone marrow cellularity and peripheral blood cytopenias. Acquired aplastic anemia (AA) is caused by T helper(Th)1-mediated immune responses and cytotoxic CD8 T cell-mediated autologous immune attacks against hematopoietic stem and progenitor cells (HSPCs). Interferon-γ (IFNγ), tumor necrosis factor-α, and Fas-ligand are historically linked to AA pathogenesis because they drive Th1 and cytotoxic T cell-mediated responses and can directly induce HSPC apoptosis and differentiation block.

Comparative Outcomes of Mechanical Thrombectomy in Acute Ischemic Stroke Patients with ASPECTS 2-3 vs. 4-5.

Background: The influence of Alberta Stroke Program Early CT Score (ASPECTS) on outcomes following mechanical thrombectomy (MT) for acute ischemic stroke (AIS) patients with low ASPECTS remains unknown. In this study, we compared the outcomes of AIS patients treated with MT for large vessel occlusion (LVO) categorized by ASPECTS value.

Methods: We conducted a retrospective analysis involving 305 patients with AIS caused by LVO, defined as the occlusion of the internal carotid artery and/or the M1 segments of the middle cerebral artery, stratified into two groups: ASPECTS 2-3 and 4-5.