Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.

Objective: This study was undertaken to characterize the clinical and genetic features of patients with 22q11.2 deletion syndrome (22q11.2DS) and generalized epilepsy compared with 22q11.

MARC1 downregulation reduces hepatocyte lipid content by increasing beta-oxidation.

Background: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a global epidemic. MASLD has a strong genetic component, and a common missense variant (rs2642438) in the mitochondrial amidoxime-reducing component 1 (MARC1) gene confers protection against its onset and severity. However, there are contrasting results regarding the mechanisms entangling this protection.

Rehabilitative good clinical practice in the treatment of osteoporosis: a comprehensive review of clinical evidences.

Purpose: Clinical practice guidelines (CPGs) are essential for guiding rehabilitation interventions. However, CPGs specifically addressing rehabilitation for osteoporosis patients remain scarce in the literature. This review aims to present, compare, and summarize recent guidelines and evidence, highlighting best practices in osteoporosis rehabilitation management.

Obstructive sleep apnea syndrome (OSAS) in women: A forgotten cardiovascular risk factor.

Sleep-disordered breathing is a highly prevalent disorder with negative impact on healthcare systems worldwide. This condition has detrimental effects on cardiovascular health and quality of life, and is frequently associated with a variety of comorbidities, including cardiovascular disease, heart failure, diabetes and atrial fibrillation. Nevertheless, it remains frequently undiagnosed and undertreated, especially in specific populations.

Amino Acid Infusion for Kidney Protection in Cardiac Surgery Patients with Chronic Kidney Disease: A Secondary Analysis of the PROTECTION Trial.

Background: In the PROTECTION trial, intravenous amino acids (AA) decreased the occurrence of acute kidney injury (AKI) in cardiac surgery patients with cardiopulmonary bypass (CPB). Recruitment of renal functional reserve may be responsible for such protection. However, patients with chronic kidney disease (CKD) have diminished renal functional reserve, and AA may be less protective in such patients.

Intracardiac fluid dynamic analysis: available techniques and novel clinical applications.

There is a growing interest in the potential use of intracardiac fluid dynamic analysis to better understand cardiac mechanics and identify novel imaging biomarkers of cardiovascular disease. Abnormalities of vortex formation and shape may in fact play a critical role in cardiac function, affecting both efficiency and myocardial workload. Recent advances in imaging technologies have significantly improved our ability to analyze these dynamic flow patterns in vivo, offering new insights into both normal and pathological cardiac conditions.

In vitro activity and genomic characterization of KPC-producing Klebsiella pneumoniae clinical blood culture isolates resistant to ceftazidime/avibactam, meropenem/vaborbactam, imipenem/relebactam: an Italian nationwide multicentre observational study (2022-23).

Objectives: To evaluate the in vitro activity of ceftazidime/avibactam, meropenem/vaborbactam, imipenem/relebactam and comparators against KPC-producing Klebsiella pneumoniae (KPC-Kp) clinical isolates collected from a multicentre study in Italy (2022-23) and genomic characterization of the molecular mechanisms causing resistance.

Methods: Consecutive KPC-Kp isolates from blood cultures (n = 264) were collected from 14 hospital centres in the period 2022-23. Antimicrobial susceptibility testing was performed using broth microdilution.

Topical insulin used alone or in combination with drug-depository contact lens for refractory cases of neurotrophic keratopathy.

Purpose: To report the clinical outcomes achieved in refractory cases of neurotrophic keratopathy (NK) through the utilization of insulin eye drops alone or in conjunction with a drug-depository contact lens (DDCL).

Observations: This multicentric prospective open-label uncontrolled case series included consecutive patients with NK refractory to conventional treatment. Insulin eye drops (1 unit/mL) were prescribed 4 times/day in all cases, and a Therapeutic Hyper-CL™ soft contact lens (EyeYon Medical, Ness Ziona, Israel), designed to act as a drug reservoir, was applied in selected patients.

Molecular insights unlocking therapeutic potential for multiple myeloma and bone disease management.

Multiple myeloma (MM), a hematologic malignancy characterized by the clonal expansion of plasma cells within the bone marrow, is associated with severe health complications, including osteolytic bone lesions that significantly increase the risk of fractures, leading to higher morbidity and mortality rates. One intriguing protein in this context is the RNA polymerase binding factor Che-1/AATF (Che-1), which has emerged as a potential player in the survival and proliferation of myeloma cells. Hippo pathway has been shown to be an important mediator of oncogenesis in solid tumors, especially for its role in shaping a tumor microenvironment favorable to cancer maintenance and spread.

Effect of continuous positive airway pressure on non-fatal stroke and paroxysmal atrial fibrillation recurrence in obstructive sleep apnoea elderly patients.

Background: Obstructive sleep apnoea (OSA) is the most common and clinically significant sleep breathing disorder, with a high prevalence in elderly with cardiovascular diseases . OSA is often under-recognised and under-treated in clinical practice. The aim of this study is to investigate possible differences in major cardiovascular events (MACE) incidence and Paroxysmal Atrial Fibrillation (PAF) recurrence between patients receiving Continuous positive airway pressure (CPAP) treatment versus no CPAP treatment, in a cohort of elderly OSA patients with several comorbidities and history of PAF.

High-frequency percussive ventilation in acute respiratory failure.

Introduction: High-frequency percussive ventilation (HFPV) is a ventilation mode characterised by high-frequency breaths. This study investigated the impact of HFPV on gas exchange and clinical outcomes in acute respiratory failure (ARF) patients during spontaneous breathing, noninvasive ventilation (NIV) and invasive mechanical ventilation (iMV).

Methods: This systematic review included randomised and nonrandomised studies up to August 2023.

Rapunzel Syndrome: Clinical, Diagnostic and Forensic Aspects in Related Deaths-A Review of the Literature.

Rapunzel syndrome is a rare and severe form of trichobezoar, characterized by the presence of hair masses in the stomach that often extend into the bowel, resembling the legendary "Rapunzel's" long hair. : This review examines the clinical, diagnostic, forensic, and post-mortem aspects associated with Rapunzel syndrome, with a focus on cases resulting in mortality or those at high risk of death due to complications. In particular, the review systematically analyzes the existing literature on fatal cases of Rapunzel syndrome, emphasizing insights into risk factors, clinical manifestations, diagnostic methods, autopsy findings, and preventive measures to provide a focused understanding of these critical aspects.

Size Does Matter: Mastectomy Flap Thickness as an Independent Decisional Factor for the Peri-Prosthetic Device Choice in Prepectoral Breast Reconstruction.

In alloplastic breast reconstruction, the choice of implant positioning and the selection of periprosthetic devices is a critical and challenging decision. Surgeons must navigate between various biologic and synthetic meshes, including acellular dermal matrices (ADM). This study aimed to propose a simple selection tool for periprosthetic devices in prepectoral breast reconstruction.

Sudden Death in a Rare Case Due to Tracheo-Innominate Artery Fistula.

Tracheostomy is an essential procedure in cases of respiratory failure in patients requiring long-term ventilation or showing airway obstruction. Tracheostomy has both immediate and long-term complications. Among these, tracheo-innominate fistula is an emergency that is a rare long-term complication.

Sex-Specific HLA Alleles Contribute to the Modulation of COVID-19 Severity.

Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection, responsible for Coronavirus Disease 2019 (COVID-19), exhibits a spectrum of clinical manifestations, ranging from asymptomatic to severe pulmonary dysfunction or death. The variability in COVID-19 severity has largely been attributed to the host's genetic characteristics, suggesting a polygenic genetic architecture, without significant strong evidence of sex-related genetic differences. In this Italian retrospective case-control study, we investigated the association between COVID-19 severity (severe vs.

β-Carotene Impacts the Liver MicroRNA Profile in a Sex-Specific Manner in Mouse Offspring of Western Diet-Fed Mothers: Results from Microarray Analysis by Direct Hybridization.

Maternal unbalanced diets cause adverse metabolic programming and affect the offspring's liver microRNA (miRNA) profile. The liver is a site of β-carotene (BC) metabolism and a target of BC action. We studied the interaction of maternal Western diet (WD) and early-life BC supplementation on the epigenetic remodeling of offspring's liver microRNAs.

Anemia and Mineral Bone Disorder in Kidney Disease Patients: The Role of FGF-23 and Other Related Factors.

Anemia and mineral and bone disorder (MBD) are significant complications of chronic kidney disease (CKD). The erythropoietin (Epo) pathway plays a key role in both of these processes in CKD. Another molecule that plays an important role in CKD-MBD is fibroblast growth factor (FGF)-23, whose main role is to maintain serum phosphate levels in the normal range, acting via its co-receptor Klotho; however, its activity may also be related to anemia and inflammation.

Serum Tau Species in Progressive Supranuclear Palsy: A Pilot Study.

Background/objectives: Progressive Supranuclear Palsy (PSP) is a tauopathy showing a marked symptoms overlap with Parkinson's Disease (PD). PSP pathology suggests that tau protein might represent a valuable biomarker to distinguish between the two diseases. Here, we investigated the presence and diagnostic value of six different tau species (total tau, 4R-tau isoform, tau aggregates, p-tau202, p-tau231 and p-tau396) in serum from 13 PSP and 13 PD patients and 12 healthy controls (HCs).

The Association Between Antipsychotics and Bone Fragility: An Updated Comprehensive Review.

Background: Antipsychotic drugs appear to be related to reduced bone mineral density (BMD). We conducted a narrative review to collect the available literature investigating the relationship between antipsychotic use and bone fragility.

Methods: A review of the published literature was conducted and reported through PubMed/Scopus/Cochrane libraries.

Long term efficacy and safety profile of dexamethasone intravitreal implant in retinal vein occlusions: a systematic review.

Background/objective: Retinal vein occlusion (RVO) is a common, sight-threatening vascular disorder affecting individuals of all ages, with incidence increasing with age. Due to its complex, multifactorial nature, treating RVO remains a clinical challenge. Currently, treatment strategies include laser photocoagulation (especially for branch RVO), anti-VEGF therapies, and intravitreal corticosteroids.

Clinical Outcomes of Bone-Level and Tissue-Level Short Implants Placed in Posterior Maxilla: A Case-Control Study.

Introduction: Short implants are today a reliable, minimally invasive option for the rehabilitation of the posterior maxilla. However, maintaining marginal bone stability remains a crucial factor for long-term success, particularly in the case of short implants. The present multicenter prospective case-control study aimed to compare the clinical outcomes of bone-level and tissue-level short implants in the posterior maxilla, focusing on implant survival and peri-implant marginal bone stability over 1 year of function.