Identification of the novel BRCA1 c.2463_2464delTA mutation in two high grade serous ovarian cancer sisters and potential dosage effects implications: a case report.

Background: Ovarian Cancer is one of the leading causes of cancer death among women worldwide and the therapeutic landscape to treat it is constantly evolving. One of the major points of decision for the treatment choice is the presence of some genomic alterations that could confer sensitivity to the new available therapies including inhibitors of poly (ADP-ribose) polymerase (PARPi) with BRCA1 and 2 genes playing the most important role.

Methods And Results: We performed the search for any somatic and/or germline alteration in patient's samples by next generation sequencing (NGS).

Evaluating the impact of changing inhaler color on perception of symptoms and disease burden in patients with asthma: The FEEL study.

ObjectivesPatient perception of treatment effectiveness is key to optimizing adherence. This is potentially impacted by color, yet no such studies have been conducted in asthma. This study assessed the influence of pink vs.

Stoma Acceptance Mediates Body Image Distress and Mental Health-Related Quality of Life: A Single-Center Study on Radical Cystectomy Patients with Ureterostomy.

Muscle-invasive bladder cancer and subsequent radical cystectomy with ureterocutaneostomy significantly impact patients' body image and quality of life, potentially increasing the risk of adverse mental health outcomes. Acceptance may represent a psychosocial resource to buffer the effects of body image impairment on health, thereby supporting stoma adjustment and preserving quality of life. This study aimed to investigate the mediating role of stoma acceptance in the relationship between body image distress and mental health.

The Role of Scanning Electron Microscopy in the Evaluation of Conjunctival Microvilli as an Early Biomarker of Ocular Surface Health: A Literature Review.

Microvilli are bristle-like protuberances of the plasma membrane, which express the vitality of mucous and epithelial cells; their alteration indicates a condition of cellular suffering in a predictive sense, making it possible to establish how much an inflammatory state or toxic conditions affect cellular functionality. In this article, the authors evaluate the applications of scanning electron microscopy (SEM) examination to impression cytology (IC) of the bulbar conjunctiva for the assessment of microvillar alteration as an early ultrastructural indicator of ocular surface health. This method offers several advantages, starting with its simplicity: it involves the non-invasive application of a strip of bibulous paper to the bulbar or tarsal conjunctiva.

MicroRNA and Heart Failure: A Novel Promising Diagnostic and Therapeutic Tool.

Heart failure (HF) has a multifaceted and complex pathophysiology. Beyond neurohormonal, renin-angiotensin-aldosterone system, and adrenergic hyperactivation, a role for other pathophysiological determinants is emerging. Genetic and epigenetic factors are involved in this syndrome.

Hair Cortisol/DHEA-S Ratios in Healthcare Workers and Their Patients During the COVID-19 Pandemic: A Case Study.

Background: Unlike psychological distress, which has been extensively studied during the COVID-19 pandemic, the impact of the pandemic on stress hormones has been overlooked. The aim of this study is to examine the hair cortisol/dehydroepiandrosterone sulfate (DHEA-S) ratios as markers of HPA axis dysregulation in healthcare workers and their patients.

Methods: A total of 200 healthcare workers and 161 "patients" patients with special healthcare needs due to chronic illness or motor disabilities were included in this study.

Insulin Resistance with Associated Hyperinsulinemia as a Cause of the Development and Worsening of Heart Failure.

Despite the considerable progress that has been made with regard to the prevention and treatment of cardiovascular diseases, heart failure (HF) remains a particularly important cause of recurring hospitalizations, with relevant social and healthcare costs, and it is a significant cause of mortality; as such, there is a need for continuous efforts to improve our understanding of its complex pathophysiology and refine relevant therapeutic strategies [...

Autoantibodies Targeting G-Protein-Coupled Receptors and RAS-Related Molecules in Post-Acute COVID Vaccination Syndrome: A Retrospective Case Series Study.

: While post-acute COVID-19 syndrome is well known and extensively studied, the post-acute COVID vaccination syndrome (PACVS) is a more recent nosological entity that is poorly defined at the immunopathological level, although it shares many symptoms with the sequelae of viral infections. : This single-center retrospective study reports a case series of 17 subjects vaccinated with mRNA or adenoviral vector vaccines who were healthy before vaccination and had never been infected with SARS-CoV-2 but who presented with symptoms similar to PACVS for a median time of 20 months (min 4, max 32). The medical records of all patients referred to our outpatient clinic over a one-year period were retrospectively analyzed.

Integrative Multi-Omics Approach in Vascular Ehlers-Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts.

: Dominant mutations in are known to cause vascular Ehlers-Danlos syndrome (vEDS) by impairing extracellular matrix (ECM) homeostasis. This disruption leads to the fragility of soft connective tissues and a significantly increased risk of life-threatening arterial and organ ruptures. Currently, treatments for vEDS are primarily symptomatic, largely due to a limited understanding of its underlying pathobiology and molecular mechanisms.

Advancing Glaucoma Treatment During Pregnancy and Breastfeeding: Contemporary Management Strategies and Prospective Therapeutic Developments.

The management of glaucoma in pregnancy and breastfeeding requires a careful evaluation of treatment choices to guarantee the well-being of both the mother and the developing fetus. This review explores the intricacies of controlling glaucoma in pregnant and breastfeeding women, including a comprehensive overview of existing glaucoma treatment methods, clinical guidelines, and future therapeutic approaches. The efficacy and safety profiles of traditional treatment approaches, such as topical and systemic medicines and surgical treatments, are evaluated specifically about their use during pregnancy and breastfeeding.

Addressing Oxidative Stress and Endothelial Dysfunction in Chronic Respiratory Diseases: The Role of Exercise and Multidisciplinary Rehabilitation.

Chronic respiratory diseases (CRDs) are highly prevalent conditions, causing over 4 million deaths every year and representing a major source of physical, psychological, and occupational disability [...

Exploring Relationship Between Immunocompetence, HPA Axis Functioning and Performances of Preweaning Dairy Calves.

Cortisol and DHEA(S) are markers of allostatic load and resilience; as such, they may be added to the definition of performance measures alongside immunocompetence. We aimed at studying the potential carryover effects of management practices on growth performances and the interrelationship between the hypothalamic-pituitary-adrenal (HPA) axis, immunocompetence and performances during the preweaning period in dairy calves. This study consisted of first a retrospective cohort study and second a prospective study.

Two FAM134B isoforms differentially regulate ER dynamics during myogenesis.

Endoplasmic reticulum (ER) plasticity and ER-phagy are intertwined processes essential for maintaining ER dynamics. We investigated the interplay between two isoforms of the ER-phagy receptor FAM134B in regulating ER remodeling in differentiating myoblasts. During myogenesis, the canonical FAM134B1 is degraded, while its isoform FAM134B2 is transcriptionally upregulated.

Metformin radiosensitizes OSCC in 2D and 3D models: possible involvement of CAF-1.

Objective: This study investigated metformin as a sensitizer for radiotherapy in oral squamous cell carcinoma (OSCC) to reduce the radiation intensity. It evaluated the drug's effect on Chromatin Assembly Factor-1 (CAF-1) expression, whose high levels correlate with worse prognosis of this cancer.

Methods: The effects of metformin, alone and with radiotherapy, were evaluated on CAL27 (HPV-) and SCC154 (HPV+) OSCC cells.

Measuring habituation to stimuli: The Italian version of the Sensory Habituation Questionnaire.

Sensory habituation allows us to decrease responsiveness to repetitive or prolonged stimuli over time, making them easy to filter out and not interfere with ongoing activities. As such, habituation could be an important aspect to be evaluated within a sensory and cognitive assessment. The main aim of the present study was to validate an Italian version of the Sensory Habituation Questionnaire (S-Hab-Q), a self-report tool assessing how long an adult individual takes to adapt to daily sensory stimuli.

The density histograms-derived computerized integrated index (CII) predicts mortality in idiopathic pulmonary fibrosis.

Quantitative assessment of the extent of radiological alterations in interstitial lung diseases is a promising field of application that goes beyond the limitations of qualitative scoring. Analysis of density histograms, i.e.

Retrospective Study on Short-Term Reverse Cardiac Remodeling in Obese Patients Undergoing Sleeve Gastrectomy.

Severe obesity is closely associated with an increased risk of comorbidities and alterations in cardiac structure and function. The primary objective of this study was to investigate cardiovascular (CV) risk factors and ventricular remodeling in individuals from an obese population eligible for bariatric surgery. The secondary objective was to evaluate changes in anthropometric, clinical laboratory, and echocardiographic measurements 12 weeks after surgery compared to baseline values.

Diabetes Awareness Campaigns to Prevent Ketoacidosis at the Diagnosis of Type 1 Diabetes: Efficacy on Multiple Outcomes and Predictors of Success: A Systematic Review.

In Italy, the incidence of diabetic ketoacidosis (DKA) at diagnosis of type 1 diabetes (T1D) is still very high (35.7-39.6%), especially in youths.

Impact of dyslipidemia and lipid-lowering therapy with statins in patients with neuroendocrine tumors.

Dyslipidemia is a potential unfavorable prognostic factor in neuroendocrine tumors (NETs); conversely, statins proved to have antiproliferative effects in NET cell lines and could be a helpful therapeutic strategy for these patients. The main objective of this observational cohort retrospective study is to explore the associations between dyslipidemia and NET progression and evaluate the potential influence of statins in this context. 393 patients with histologically confirmed gastroenteropancreatic or bronchopulmonary NETs from six Italian centres didicated to NET diagnosis and therapy were included.

Oncological outcomes and prognostic implications of T1 histo-anatomic substaging in the management of high-Grade non-muscle invasive bladder cancer: results from a large single centre series.

Purpose: This study aimed to comprehensively evaluate the prognostic value of T1 histo-anatomic substaging (T1a/T1b) for high grade (HG) non-muscle invasive bladder cancer (NMIBC) over a large single-centre cohort.

Materials And Methods: Patients with primary HG T1 NMIBC were identified from our Institutional database, between 2011 and 2022. Data from diagnosis to repeated transurethral resection of bladder tumour (RE-TURBT), bacillus Calmette-Guérin (BCG) treatment and follow-up were collected.

Upper airway obstructive events on noninvasive ventilation in NMD adolescents.

Home noninvasive ventilation (NIV) is expanding worldwide for pediatrics and is mainly indicated to treat nocturnal alveolar hypoventilation. Nasal mask is the most common interface used in children, but oronasal mask may be indicated in case of excessive mouth leaks or facial weakness. Obstructive events caused by the oronasal mask have been reported in a few studies on adult patients, but never in pediatrics.

Current and Emerging Issues in Adeno-Associated Virus Vector-Mediated Liver-Directed Gene Therapy.

Adeno-associated virus (AAV) vectors have demonstrated safety and efficacy for gene transfer to hepatocytes in preclinical models, in various clinical trials and from a clinical experience with a growing number of approved gene therapy products. Although the exact duration is unknown, the expression of therapeutic genes in hepatocytes remains stable for several years after a single administration of the vector at clinically relevant doses in adult patients with hemophilia and other inherited metabolic disorders. However, clinical applications, especially for diseases requiring high AAV vector doses by intravenous administrations, have raised several concerns.