Value of autopsy in the modern age: Discrepancy between clinical and autopsy diagnoses.

Background: Autopsy is a medical procedure that consists of the examination of the corpse to determine the cause of death and obtain information on pathological conditions or injuries. In recent years, there has been a reduction in hospital autopsies and an increase in forensic autopsies.

Aim: To evaluate the utility of autopsy in the modern age and the discrepancy between clinical and autopsy diagnoses.

Expansion of the Phenotype of You-Hoover-Fong Syndrome and Possible Increased Risk of Cancer.

You-Hoover-Fong syndrome (YHFS) is a rare autosomal recessive disorder characterized by global developmental delay, microcephaly, dysmorphic facial features, and a spectrum of neurodevelopmental abnormalities. YHFS is caused by pathogenic variants in TELO2, a gene involved in regulation of the cell cycle. To date, 29 individuals with YHFS have been reported and none of them has been reported to develop tumors.

Glue and Ethanol Mixture for Aneurysm Endovascular Treatment: Animal Lab Study, Imaging, and Histopathological Findings.

This study aims to investigate the degree of penetration, permanence of occlusion, and vascular changes induced by a newly modified mixture of n-butyl cyanoacrylate (Glubran 2), ethanol, and Lipidol (GEL) in the endovascular treatment of experimental aneurysms induced in swine. Bilateral pouch aneurysms were created in the wall of the internal carotid artery in eighteen pigs. The sixteen aneurysms were treated with a new mixture of GEL with different component proportions.

Long-Term Effectiveness and Safety of Ustekinumab in Crohn's Disease: Results from a Large Real-Life Cohort Study.

Ustekinumab (UST) is an interleukin-12/interleukin-23 receptor antagonist approved for the treatment of Crohn's disease (CD). Only limited real-life data on the long-term outcomes of CD patients treated with UST are available. This study assessed UST's long-term effectiveness and safety in a large population-based cohort of moderate to severe CD patients.

Now or Later? The Role of Neoadjuvant Treatment in Advanced Endometrial Cancer: A Systematic Review.

Endometrial cancer (EC) is, nowadays, the most frequent gynecological malignancy worldwide. The main treatment approach for EC is surgery, especially for early-stage tumors. For advanced EC, chemotherapy (CT) with carboplatin and paclitaxel is the standard treatment, especially for women with metastatic or recurrent disease.

Retrospective-Prospective Observational Study of Italian Patients Treated in Melanoma Adjuvant Cohort MAP-MADAM (Maximing ADjuvAnt MAP): Interim Analysis.

: Dabrafenib and trametinib (D + T) have been approved for the treatment of stage III melanoma with BRAF V600E V600K mutations in an adjuvant setting, based on the results from the COMBI-AD trial. To provide early access to this combination therapy prior to its commercial availability in Italy, a Managed Access Program (MAP) was run in Italy from June 2018 to December 2019. : The MADAM (Maximing ADjuvAnt MAP) study is an Italian retrospective-prospective observational study that included patients who received at least one dose of D + T through the MAP.

Combined Therapeutic Strategies Based on the Inhibition of Non-Oncogene Addiction to Improve Tumor Response in EGFR- and KRAS-Mutant Non-Small-Cell Lung Cancer.

Background: Oncogene-driven NSCLC is usually treated with targeted therapies using tyrosine kinase inhibitors (TKIs) to inhibit oncogene downstream signaling pathways, affecting tumor survival and proliferation. EGFR- and KRAS-mutant NSCLCs are the most represented subtypes, and they are treated in clinical practice with oncogene-targeting drugs in the first and second line, respectively. Unfortunately, the development of oncogene-independent resistant clones limits TKI efficacy.

Extracorporeal Acoustic Shock Waves to Treat Complications of Polymethylmethacrylate.

Background: Polymethylmethacrylate (PMMA) fillers are permanent fillers known for their possible side effects. In case of complications, the only possible treatment is surgical removal, followed by procedures to minimize resulting deformity. The aims of this study were (1) to analyse the morphology of the PMMA material in the nodules, (2) to demonstrate that treatment by acoustic wave therapy (AWT) can help the removal of the nodules, and (3) to present an easy procedure to solve deformities.

Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey.

Purpose: The availability of care recommendations has improved survival and delayed the progression of clinical signs in Duchenne muscular dystrophy. The aim of the study was to perform a nationwide survey investigating the prevalence, age distribution, and functional status of Duchenne muscular dystrophyin Italy.

Methods: The survey was performed by collecting data from all 31 reference centers for Duchenne muscular dystrophy in Italy using a structured form.

PARP inhibitors in testicular germ cell tumors: what we know and what we are looking for.

Testicular germ cell tumors (TGCTs), the most common malignancies affecting young men, are characterized by high sensitivity to cisplatin-based chemotherapy, which leads to high cure rates even in metastatic disease. However, approximately 30% of patients with metastatic TGCTs relapse after first-line treatment and those who can be defined as platinum-refractory patients face a very dismal prognosis with only limited chemotherapy-based treatment options and an overall survival of few months. Hence, to understand the mechanisms underlying cisplatin resistance is crucial for developing new treatment strategies.

Non-invasive assessment of portal hypertension in patients with primary biliary cholangitis is affected by severity of cholestasis.

Background&aims: Non-invasive tests (NITs) for ruling-out clinical significant portal hypertension (CSPH) and high-risk varices (HRV) in patients with primary biliary cholangitis(PBC) and compensated advanced chronic liver disease (cACLD) are lacking. We evaluated NITs in these patients and the influence of cholestasis on their performance.

Methods: Consecutive patients from the "Italian PBC registry" and two UK large-volume PBC referral centres with upper endoscopy within 6 months from biochemical evaluation and transient elastography were included.

Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.

The AGBL5 gene encodes for the Cytoplasmic Carboxypeptidase 5 (CCP5), an α-tubulin deglutamylase that cleaves the γ-carboxyl-linked branching point of glutamylated tubulin. To date, pathogenic variants in AGBL5 have been associated only with isolated retinitis pigmentosa (RP). Hearing loss has not been reported in AGBL5-caused retinal disease.

Investigating the antiproliferative and antioxidant potential of xanthoxylin and of essential oil isolated from Pulicaria incisa (Lam.) DC. herbal medicine.

In this study have been evaluated the antiproliferative and antioxidant activities of Israeli Pulicaria incisa (Lam.) DC. essential oil (Pi1), of essential oil partially purified by xanthoxylin (Pi2), one of its feature metabolites, and the isolated xanthoxylin (Xan).

Outcomes of loop ileostomy after rectal resection for cancer: A prospective observational multicenter snapshot study from Multidisciplinary Italian Study group for STOmas (MISSTO).

Background: Diverting ileostomy is a common procedure in rectal cancer surgery, but it is sometimes associated with a nonnegligible rate of complications. The primary aim of this study was to analyze the incidence and types of stoma-related complications for ileostomy creation after rectal cancer resection. The secondary aims were to report the indications, the technical details, and the efficacy of stoma care provided by ostomy nurses.

Neurological and orbital complication of acute sinusitis in pediatric patient: A case report.

Sinusitis is a common condition that can lead to various neurological complications due to the spread of infection to the intracranial and orbital regions. Fortunately, the availability of antibiotics has significantly improved the prognosis of sinusitis-associated intracranial complications. As a result, the overall incidence of neurological complications arising from sinusitis remains low.

Functional effect of adiponectin and body composition assessment in lung cancer subjects after video-assisted thoracoscopic surgery (VATS) lobectomy.

Background: Lung cancer is a pathology with an important incidence. It is a multifactorial disease characterized by epigenetic and nutritional factors. Indeed, there is a strong association between adipose tissue and the pulmonary system, and low-grade inflammation of obese and/or overweight subjects have a pivotal role in lung cancer establishment.

Case report: Tracing in parallel the salivary and gut microbiota profiles to assist Larotrectinib anticancer treatment for fusion-positive glioblastoma.

Oncotherapy can shape intestinal microbiota, which, in turn, may influence therapy effectiveness. Furthermore, microbiome signatures during treatments can be leveraged for the development of personalised therapeutic protocols in cancer treatment based on the identification of microbiota profiles as prognostic tools. Here, for the first time, the trajectory of gut and salivary microbiota in a patient treated with Larotrectinib, a targeted therapy approved for diagnosed glioblastoma multiforme neurotrophic tyrosine receptor kinase () gene fusion-positive, has been accurately investigated.

Polystyrene microplastic exposure modulates gut microbiota and gut-liver axis in gilthead seabream (Sparus aurata).

Microplastics (MPs) are a threat of growing concern for living organisms as they exist in all ecosystems. The bidirectional communication between the gut, its microbiota, and the liver, has been conceptualized as gut-liver axis and may be influenced by environmental factors. MPs can cause intestinal and hepatic injuries, but there is still limited research exploring their impact on gut-liver axis.

Smac/DIABLO protein acts as an independent prognostic factor in oral squamous cell carcinoma.

Oral squamous cell carcinoma (OSCC) poses significant health risks with increasing incidence and mortality rates. In this context, there is an urgent need to explore novel biomarkers to enhance therapeutic strategies and improve survival. Understanding apoptotic evasion in cancer pathogenesis, this pioneering study aims to investigate the correlation between a pro-apoptotic protein Smac/DIABLO and patient prognosis within the OSCC cohort.

Flexible 3D nanofiber-based SERS biosensor for detection of miRNA-223-3p in early Laryngeal Cancer diagnosis.

MicroRNAs (miRNAs) are small non-coding RNAs (18-22 nucleotides) that regulate gene expression and are associated with various diseases, including Laryngeal Cancer (LCa), which has a high mortality rate due to late diagnosis. Traditional methods for miRNA detection present several drawbacks (time-consuming steps, high cost and high false positive rate). Early-stage diagnosis and selective detection of miRNAs remain challenging.

Protective effects of olive oil antioxidant phenols on mercury-induced phosphatidylserine externalization in erythrocyte membrane: Insights into scramblase and flippase activity.

In several physiopathological processes, phosphatidylserine (PS), normally sequestered to the inner leaflet of the plasma membrane, becomes exposed to the cell surface. In erythrocytes (RBC), PS externalization is a crucial event for the removal of aged/damaged cells but can also be associated with increased prothrombotic activity. Structurally related olive oil antioxidants, including hydroxytyrosol (HT), are able to significantly reduce the percentage of PS-exposing RBC, when cells are exposed to toxic compounds such as the heavy metal mercury (Hg).