Hb Monza: A novel extensive HBB duplication with preserved α-β subunit interaction and unstable hemoglobin phenotype.

Background: Unstable hemoglobins are caused by single amino acid substitutions in the HBB gene, often affecting key histidine residues, leading to protein destabilization and hemolytic crises. In contrast, long HBB variants, exceeding 20 bp, are rare and associated with a β-thalassemia phenotype due to disrupted α-β chain interactions. We describe a family wherein four of six members carry a novel 23-amino-acid in-frame duplication of HBB (c.

An open-label, randomized phase III study of early switch maintenance vs delayed second-line nivolumab in advanced stage squamous non-small cell lung cancer (NSCLC) patients after standard first-line platinum-based chemotherapy-EDEN trial GOIRC 04-2016.

Background: As for squamous (Sq)-NSCLC, Checkmate-017 trial showed a significant overall survival (OS) improvement in favor of Nivolumab (Nivo) over Docetaxel in 2nd-line. We hypothesized that anticipating Nivo use, as early switch maintenance after 1st-line chemotherapy (CHT), might have improved survival as compared to delayed 2nd-line treatment.

Methods: EDEN was an open-label, 2-arm, phase III study which randomized (1:1) stage IIIB/IV Sq-NSCLC pts non-progressive after 1st-line platinum-based CHT, to receive early Nivo as switch maintenance (Arm A) or standard best supportive care followed by 2nd-line Nivo at disease progression (Arm B).

Role of carglumic acid in the long-term management of propionic and methylmalonic acidurias.

Propionic aciduria (PA) and methylmalonic aciduria (MMA) are rare inherited disorders caused by defects in the propionate metabolic pathway. PA due to propionyl coenzyme A carboxylase deficiency results in accumulation of propionic acid, while in MMA, deficiency in methylmalonyl coenzyme A mutase leads to accumulation of methylmalonic acid. Hyperammonemia is related to a secondary deficiency of N-acetylglutamate (NAG), the activator of carbamoyl phosphate synthetase 1, which is an irreversible rate-limiting enzyme in the urea cycle.

Use of ICD-9-CM coding for identifying antibiotic prescriptions during hospitalization: a Delphi consensus model.

A Delphi consensus-seeking procedure was conducted to validate a list of ICD-9-CM codes that could help identify hospital admissions in which antimicrobials are more likely to be prescribed. The panel agreed to include 2967 codes out of 16229 (18.28%).

Combined CAR-T/HSCT approach in a patient with refractory acute lymphoblastic leukemia and cystic fibrosis.

Introduction: The association of acute lymphoblastic leukaemia (ALL) and cystic fibrosis (CF) is rare. We present the case of a paediatric patient affected by CF and refractory B-cell precursor (BCP) ALL, who was treated with combined chimeric antigen receptor T-cells (CAR-T) and allogeneic haematopoietic stem cell transplantation (HSCT).

Case Description: Autologous-CD19 targeting CAR-T allowed to achieve molecular remission and spare chemo-related toxicity.

Treatment of Peritonsillar Abscess in Children: A Systematic Review.

This review aims to analyze the treatment options for peritonsillar abscess (PTA) in children. We searched PubMed and EMBASE for studies regarding the treatment of PTA in children. Relevant studies were reviewed based on systematic review (PRISMA) guidelines.

Is There a Pediatric Role for the General Thoracic Surgeon in a General Hospital? A 22-Year Single-Center Experience.

: Although general thoracic surgery is usually focused on adult patients, there are some settings of pediatric diseases which can benefit from thoracic surgical procedures. In this study, we retrospectively reviewed the contribution of general thoracic surgeons to pediatric patients in a high-volume hospital. : From September 2002 to August 2024, 8897 consecutive patients were operated on; among them, 202 patients (2.

The Between Lung Cancer and Interstitial Lung Diseases: A Focus on Acute Exacerbation.

Patients with interstitial lung disease (ILD) are about five times more likely to develop lung cancer than those without ILD. The presence of ILD in lung cancer patients complicates diagnosis and management, resulting in lower survival rates. Diagnostic and treatment procedures needed for cancer can increase the risk of acute exacerbation (AE), one of the most severe complications for these patients.

The Evil Twins of Chronic Pelvic Pain Syndrome: A Systematic Review and Meta-Analysis on Interstitial Cystitis/Painful Bladder Syndrome and Endometriosis.

Background: Chronic pelvic pain is a debilitating condition affecting quality of life. Endometriosis is one of the leading causes of CPP, but recent studies highlighted the role of interstitial cystitis/bladder pain syndrome (IC/PBS) in causing CPP. Only some studies addressed the coexistence of these two conditions, which seems more frequent than what is supposed, leading to diagnostic delays and unnecessary surgeries.

The Frequency and Main Characteristics of Obesity in Undocumented Migrants Receiving Medical Assistance from a Charitable Organisation in Italy.

Background: Obesity is continually growing not only in medium- and high-income countries but also in low-income countries, from where increasing numbers of migrants arrive in Western countries. We aimed to investigate the frequency and characteristics of obesity in a sample of undocumented migrants, a population for which official health data are not available.

Methods: We collected demographic and socio-economic data and information on medical diagnoses and pharmacologic treatments for 341 undocumented migrants consecutively attending the outpatient clinic of a big non-governmental organisation in Milan, Italy, from March to July 2023.

Spatially Resolved Molecular Characterization of Noninvasive Follicular Thyroid Neoplasms with Papillary-like Nuclear Features (NIFTPs) Identifies a Distinct Proteomic Signature Associated with RAS-Mutant Lesions.

Follicular-patterned thyroid neoplasms comprise a diverse group of lesions that pose significant challenges in terms of differential diagnosis based solely on morphologic and genetic features. Thus, the identification of easily testable biomarkers complementing microscopic and genetic analyses is a highly anticipated advancement that could improve diagnostic accuracy, particularly for noninvasive follicular thyroid neoplasms with papillary-like nuclear features (NIFTPs). These tumors exhibit considerable morphological and molecular heterogeneity, which may complicate their distinction from structurally similar neoplasms, especially when genetic analyses reveal shared genomic alterations (e.

Relationship Between Serum Vitamin D Levels and Chronic Musculoskeletal Pain in Adults: A Systematic Review.

Background/objectives: Chronic pain impacts approximately 18% of the Spanish population, with low levels of vitamin D prevalent in over 80% of individuals over 65. Given vitamin D's critical role in pain modulation, its deficiency may be significantly linked to chronic musculoskeletal pain, though existing research offers mixed results.

Methods: This systematic review followed PRISMA guidelines, examining studies from PubMed, Cochrane, and PEDRO databases from 1990 onwards that investigated the relationship between vitamin D levels and chronic musculoskeletal pain.

Synchronized Contrast-Enhanced 4DCT Simulation for Target Volume Delineation in Abdominal SBRT.

To present the technical aspects of contrast-enhanced 4DCT (ce4DCT) simulation for abdominal SBRT. Twenty-two patients underwent two sequential 4DCT scans: one baseline and one contrast-enhanced with personalized delay time () calculated to capture the tumor in the desired contrast phase, based on diagnostic triple-phase CT. The internal target volume (ITV) was delineated on ten contrast phases, and a panel of three experts qualitatively evaluated tumor visibility.

Anatomy, Imaging, and Surgical Treatment of Thoracic Lymphadenopathies in Advanced Epithelial Ovarian Cancer.

Ovarian cancer typically presents at advanced stages, with prognosis heavily influenced by the presence of residual disease following cytoreductive surgery. The role of resecting enlarged extra-abdominal lymph nodes during cytoreductive procedures remains contentious. These enlarged lymph nodes are commonly identified through high-resolution imaging techniques such as ultrasound (US), computed tomography (CT), magnetic resonance imaging (MRI), and positron emission tomography-computed tomography (PET-CT).

Intratumoral Treatment in Lung Cancer: Is It Time to Move Towards Clinical Practice?

According to a modern view, cancer no longer follows a purely mechanistic model. Rather, a tumor is conceived as a more complex structure, composed of cancer cells, the activities of which may interact and reshape the so-called tumor microenvironment (TME), leading to preservation of specific tumoral niches and promoting the survival of tumoral stem cells. : Therapeutic strategies must deal with this unique cancer architecture in the near future by widening their range of activities outside the cancer cells and rewiring a TME to ensure it is hostile to cancer growth.

Ladies project: large database in endometrial cancers for a personalized treatment.

Purpose: To compare Italian use with current international guidelines and to evaluate oncological outcomes and toxicity patterns of adjuvant radiation therapy (RT) for endometrial cancer (EC) in Italian women.

Materials And Methods: To conduct a retrospective multicentre Italian study a large database was set up. Inclusion criteria were: accrual between 2010 and 2020, treatment with surgery, post-operative external beam RT (EBRT) and/or interventional radiotherapy (IRT) associated or not with adjuvant chemotherapy.

Comparing medication persistence with oral and subcutaneous semaglutide in a real-world setting.

Aims: To compare medication persistence and efficacy of oral and subcutaneous semaglutide, in a real-world setting.

Materials And Methods: This is a single-center, retrospective observational cohort study. Patients with type 2 diabetes mellitus (T2DM) starting treatment with either formulation of semaglutide between January 1 2019 and July 31 2023 and with at least one follow-up visit were included.

Malignant pleural mesothelioma treated with cytoreductive video-assisted thoracic surgery plus hyperthermic intrathoracic chemotherapy: a case report.

Background: Malignant pleural mesothelioma (MPM) is primarily treated with a combination therapy based on lung pleurectomy in the early stage or pemetrexed combined with platinum-based chemotherapy in the late stage. However, these standard therapies do not significantly improve survival and are associated with significant adverse reactions.

Case Description: In February 2017, a 63-year-old male patient was admitted to Department of Thoracic Surgery, The Third Affiliated Hospital of Chongqing Medical University coughing for 1 month and experienced chest tightness and chest pain for 2 days.

Faricimab versus the standard of care for neovascular age-related macular degeneration in Italy: an indirect treatment comparison.

Objectives: To assess through an indirect treatment comparison (ITC) the potential benefit of faricimab over the anti-vascular endothelial growth factor (VEGF) real-life scenario, hereby defined standard of care (SoC), in Italy, that is, aflibercept, bevacizumab, and ranibizumab, in patients with neovascular age-related macular degeneration (nAMD) naïve to any anti-VEGF treatment.

Methods: Individual patient-level data from the phase III clinical trials TENAYA and LUCERNE (faricimab cohort) and the real-world study RADIANCE (RADIANCE cohort) were used. Efficacy was evaluated with changes in best corrected visual acuity (BCVA) and central subfield thickness (CST) from baseline to 1 year (week 52 in the RADIANCE and week 48 in the faricimab cohorts, respectively).