A Cross-Sectional Study of Variant Interpretation and Reporting of NGS Data Using Tertiary Analysis Software: Navify Mutation Profiler.

Introduction: Personalized medicine has revolutionized the clinical management of patients with solid tumors. However, the large volumes of molecular data derived from next-generation sequencing (NGS) and the lack of harmonized bioinformatics pipelines drastically impact the clinical management of patients with solid tumors. A possible solution to streamline the molecular interpretation and reporting of NGS data would be to adopt automated data analysis software.

Hereditary Hemolytic Anemia Due to PIEZO1 Red Blood Cell Membrane Defect.

PIEZO1 (piezo-type mechanosensitive ion channel component 1) is a mechanosensitive ion channel protein. Gain-of-function variants in the gene are known to cause dehydrated hereditary stomatocytosis (DHS) also termed hereditary xerocytosis. This is a rare autosomal dominant condition characterized by variable-degree anemia with a tendency toward hemolysis, erythrocyte dehydration and iron overload.

The effects of Dapagliflozin in a real-world population of HFrEF patients with different hemodynamic profiles: worse is better.

Background: Sodium-Glucose Cotransporter-2 inhibitors (SGLT2i) represent a deep revolution of the therapeutic approach to heart failure (HF), preventing its insurgence but also improving the management of the disease and slowing its natural progression. To date, few studies have explored the effectiveness of SGLT2i and, in particular, Dapagliflozin in a real-world population. Therefore, in this observational prospective study, we evaluated Dapagliflozin's effectiveness in a real-world HF population categorized in the different hemodynamic profiles.

Rare Primitive Lung Adenocarcinoma in Larynx: A Case Report.

Laryngeal metastasis from a primitive distant cancer is a rare finding in clinical practice. In this paper is presented the case of a 63-year-old patient treated for lung adenocarcinoma metastasis in the supraglottic larynx. A review of literature suggests how the treatment of this kind of case is not unique.

RAS signaling pathway is essential in regulating PIEZO1-mediated hepatic iron overload in dehydrated hereditary stomatocytosis.

PIEZO1 encodes a mechanoreceptor, a cation channel activated by mechanical stimuli. Gain-of-function (GoF) variants in PIEZO1 cause dehydrated hereditary stomatocytosis (DHS), or xerocytosis, a pleiotropic syndrome characterized by anemia and iron overload. DHS patients develop hepatic iron overload independent of the degree of anemia and transfusion regimen.

Clinical efficacy of low-dose Perampanel correlates with neurophysiological changes in familial adult myoclonus epilepsy 2.

Familial adult myoclonus epilepsy (FAME) management relies on antiseizure medications (ASMs), which inadequately address myoclonus and cortical tremor. This study evaluates Perampanel (PER), an AMPA-receptor antagonist, for treating FAME symptoms. Fifteen FAME2 patients participated in an observational prospective study.

Mitochondrial Dysfunction in Parkinson's Disease: A Contribution to Cognitive Impairment?

Among the non-motor symptoms associated with Parkinson's disease (PD), cognitive impairment is one of the most common and disabling. It can occur either early or late during the disease, and it is heterogeneous in terms of its clinical manifestations, such as Subjective Cognitive Dysfunction (SCD), Mild Cognitive Impairment (MCI), and Parkinson's Disease Dementia (PDD). The aim of the present review is to delve deeper into the molecular mechanisms underlying cognitive decline in PD.

Small Fiber Neuropathy in Burning Mouth Syndrome: A Systematic Review.

Burning mouth syndrome (BMS) is a chronic idiopathic orofacial pain disorder, characterized by persistent burning sensations and pain without clear pathological causes. Recent research suggests that small fiber neuropathy (SFN) may play a significant role in the neuropathic pain and sensory disturbances associated with BMS. Following PRISMA guidelines, this systematic review aims to evaluate and synthesize current evidence supporting SFN's involvement in BMS.

Standardized 3D Transoesophageal Echocardiography Manoeuvre for Enhanced Tenting Height Evaluation During Transcatheter Mitral Valve Edge-to-Edge Repair.

Transcatheter treatments for structural heart disease, including edge-to-edge mitral valve repair (mTEER), heavily rely on transoesophageal echocardiography (TOE) for pre-procedural assessment and guidance. Trans-septal puncture (TSP) is one of the first key steps of such procedures, with two-dimensional (2D) TOE often providing suboptimal imaging. Three-dimensional (3D) echocardiography could overcome the limitations of 2D TOE and improve the assessment of tenting height.

How Psychophysical Stress Can Mediate the Effects of Anxiety and Depression on the Overall Quality of Life and Well-Being in Women Undergoing Hereditary Breast Cancer Screening.

: Women undergoing genetic counseling for hereditary breast cancer often experience a high emotional burden. Distress and stress in the initial phases of genetic counseling can be significant predictors of long-term psychological health, influencing quality of life and well-being. : This study aimed to evaluate the mediating role of psychophysical stress in the relationship of anxiety and depression with quality of life and well-being in women undergoing genetic counseling for BRCA1/2 mutations.

Evaluating AI-Generated informed consent documents in oral surgery: A comparative study of ChatGPT-4, Bard gemini advanced, and human-written consents.

This study evaluates the quality and readability of informed consent documents generated by AI platforms ChatGPT-4 and Bard Gemini Advanced compared to those written by a first-year oral surgery resident for common oral surgery procedures. The evaluation, conducted by 18 experienced oral and maxillofacial surgeons, assessed consents for accuracy, completeness, readability, and overall quality. ChatGPT-4 consistently outperformed both Bard and human-written consents.

Exploring the Association Between Cognitive Decline and Triglyceride-Glucose Index: A Systematic Review and Meta-Analysis.

Background: Cognitive decline and dementia are debilitating conditions that compromise the quality of life and charge the healthcare system with a substantial socioeconomic burden. In this context, emerging evidence supports an association between the triglyceride-glucose index (TyG), a surrogate insulin resistance marker, and cognitive decline and dementia. Hence, we systematically reviewed the studies assessing the TyG index in patients with cognitive decline and their controls.

Probing clarity: AI-generated simplified breast imaging reports for enhanced patient comprehension powered by ChatGPT-4o.

Background: To assess the reliability and comprehensibility of breast radiology reports simplified by artificial intelligence using the large language model (LLM) ChatGPT-4o.

Methods: A radiologist with 20 years' experience selected 21 anonymized breast radiology reports, 7 mammography, 7 breast ultrasound, and 7 breast magnetic resonance imaging (MRI), categorized according to breast imaging reporting and data system (BI-RADS). These reports underwent simplification by prompting ChatGPT-4o with "Explain this medical report to a patient using simple language".

Association between CD20 T lymphocytes and neuropsychological findings in multiple sclerosis.

Background And Purpose: CD20 T lymphocytes are a subset of circulating T cells presenting the CD20 receptor, a molecular marker of B lineage. CD20 T lymphocytes are thought to play a pivotal role in multiple sclerosis (MS) pathology, especially at progressive stages. We aimed to investigate the correlation between CD20 T lymphocytes and neuropsychological features (i.

Neuroendocrine Tumors and Survival Rates in Multiple Endocrine Neoplasia Type 1 Patients: Impact of Gender Difference.

Introduction: Multiple endocrine neoplasia type 1 (MEN-1) is the most common inherited syndrome associated with NET development and gender-specific differences are emerging in neuroendocrine tumors (NETs). This study aimed to analyze gender difference in a single cohort of MEN-1 patients focusing on duodeno-pancreatic (DP)-NET and survival rates.

Methods: MEN-1 patients referred to the Endocrinology Unit of the "Federico II" University of Naples, ENETS CoE, were retrospectively evaluated.

Scientific production on robotic metabolic and bariatric surgery: a comprehensive bibliometric analysis on its current world status.

Background:  Robotic metabolic and bariatric surgery (RMBS) has emerged as an innovative approach in the treatment of severe obesity by combining the ergonomic precision of robotic technology and instrumentation with the established benefits of weight loss surgery. This study employs a bibliometric approach to identify local research trends and worldwide patterns in RMBS.

Materials & Methods:  The research methodology used "robotic" and "metabolic" or "bariatric surgery" to search Web of Science.

Neoadjuvant Immunotherapy in Head and Neck Cancers: A Paradigm Shift in Treatment Approach.

Checkpoint inhibitors (ICIs) have demonstrated substantial efficacy in the treatment of numerous solid tumors, including head and neck cancer. Their inclusion in the therapeutic paradigm in metastatic lines of treatment has certainly improved the outcomes of these patients. Starting from this assumption, numerous studies have been conducted on ICIs in other earlier disease settings, including studies conducted in patients in neoadjuvant settings.

Inferior Vena Cava Filter in Cancer-Associated Thrombosis: A for the Treating Physicians: A Narrative Review.

Cancer is a remarkable prothrombotic disease, and cancer-associated thrombosis acts as a dreadful omen for poor prognosis. The cornerstone of venous thromboembolism therapy is anticoagulation; however, in patients with venous thromboembolism who are not suitable for anticoagulation (contraindication, failure, or complication), the inferior vena cava filter appears a valuable option in the therapeutic arsenal. The recently heightened trend of steady rise in filter placement mirrors the spread of retrievable devices, together with improvements in physicians' insertion ability, medico-legal issue, and novel and fewer thrombogenic materials.

The "4.3," A New Filler Lips Technique.

Background: The "4.3" technique is a hybrid lip augmentation approach that combines the aesthetic benefits of the vertical-lip technique with the fewer entry points of the retrograde linear technique. This method aims to create natural-looking, harmonious, and defined lips using hyaluronic acid (HA)-based fillers, to enhance volume and contour.