Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module.

The Revised upper limb module (RULM) has been increasingly used in clinical trials and in clinical settings. The aim of this study was to use the 'shift analysis' to assess the patterns of lost or gained abilities for each item on the RULM in an untreated cohort, stratified by SMA type, age, SMN2 copy number, and motor functional status. The analysis was performed on 222 12-month paired assessments from 129 individuals (115 assessment from type II and 107 from type III) who had at least two assessments at yearly intervals.

Pathogenic G6PD variants: Different clinical pictures arise from different missense mutations in the same codon.

G6PD deficiency results from mutations in the X-linked G6PD gene. More than 200 variants are associated with enzyme deficiency: each one of them may either cause predisposition to haemolytic anaemia triggered by exogenous agents (class B variants), or may cause a chronic haemolytic disorder (class A variants). Genotype-phenotype correlations are subtle.

Trabecular bone score and bone frailty: an Italian observational retrospective study.

Background: The primary purpose of this study was to verify if trabecular bone score (TBS) might fit with the changes of bone mineral density (BMD) confirming as a reliable marker of bone fragility.

Methods: A retrospective observational study on 898 Italian women (aged 40-90 years) was conducted between January 2021 and February 2023. All recruited women were divided into two main groups according to TBS (Group A: TBS ≥1.

The use of intraoperative CT-neuronavigation in Wiltse approach. A technical note.

Introduction: The paraspinal approach was first introduced in 1968 and later refined by Leon Wiltse to gain access to the lateral interevertebral foraminal region. However, challenges can arise due to unfamiliarity with this approach, unique patient anatomy, or in case of revision surgery, potentially elevating the risk of complications and/or poor outcome.

Methods: Here we report on two cases in which the intraoperative Oarm CT neuronavigation was used during a Wiltse approach.

Association of anti-calcitonin gene-related peptide with other monoclonal antibodies for different diseases: A multicenter, prospective, cohort study.

Background And Purpose: Although there is extensive evidence about the safety of monoclonal antibodies against calcitonin gene-related peptide (anti-CGRP mAbs) in combination with traditional drugs, scarce data are available on the safety of their combination with other mAbs. This study aimed to evaluate the 6-month effectiveness and tolerability of anti-CGRP mAbs in combination with other mAbs for different diseases.

Methods: Patients included in the Italian Headache Registry and treated concomitantly with an anti-CGRP mAb and another mAb were included.

GEC-ESTRO recommendations for head & neck cancer brachytherapy (interventional radiotherapy): 2nd update with focus on HDR and PDR.

Modern brachytherapy (BT) is playing an important role in the multidisciplinary treatment of Head and Neck (H&N) cancer, as an organ- and function-preserving therapy. Low-dose-rate (LDR) technology has been replaced by modern remote afterloading and stepping source equipment using pulsed dose rate (PDR) or high dose rate (HDR) sources, improved image guidance and 3D treatment planning systems. This is an update of the previous GEC-ESTRO recommendations for H&N tumors, mainly applied to squamous carcinomas.

Niraparib first-line maintenance therapy in patients with newly diagnosed advanced ovarian cancer: final overall survival results from the PRIMA/ENGOT-OV26/GOG-3012 trial.

Background: The phase III PRIMA/ENGOT-OV26/GOG-3012 trial met its primary endpoint. Niraparib first-line maintenance significantly prolonged progression-free survival (PFS) among patients with newly diagnosed advanced ovarian cancer that responded to first-line platinum-based chemotherapy, regardless of homologous recombination deficiency (HRD) status. Final overall survival (OS) results are reported.

A rare case of central nervous system pancreatoblastoma metastasis: illustrative case.

Background: Pancreatoblastoma is a malignant neoplasm of the pancreas, occurring usually in children and rarely in adults. Treatment consists of surgery with a variable combination of adjuvant therapies. Liver metastases are common, whereas brain diffusion is exceptionally rare.

Robotic and Laparoscopic Adrenalectomy for Pheochromocytoma: An International Multicenter Study.

Background And Objective: Robotic adrenalectomy (RA) has attracted interest as an alternative to laparoscopic adrenalectomy (LA) for patients with pheochromocytoma, although its beneficial effects are uncertain. Our aim was to compare RA and LA outcomes for these patients.

Methods: Data for patients who underwent RA or LA for pheochromocytoma in 46 international centers between 2012 and 2022 were reviewed.

Small Bowel Therapies for Metabolic Disease and Obesity.

The small bowel has a crucial role in metabolic homeostasis. Small bowel endoscopic bariatric metabolic treatments (EBMTs) include several devices aimed at providing minimally invasive approaches for the management of metabolic disorders. The aim of this review is to provide an updated and exhaustive overview of the EBMTs targeting the small bowel developed to date, including the duodenal mucosa resurfacing, the duodenal-jejunal bypass liners, gastro-jejunal bypass sleeve, and the incisioneless magnetic anastomosis system, as well as to mention the future perspectives in the field.

Transient splicing inhibition causes persistent DNA damage and chemotherapy vulnerability in triple-negative breast cancer.

Triple negative breast cancer (TNBC) is an aggressive type of breast cancer. While most TNBCs are initially sensitive to chemotherapy, a substantial fraction acquires resistance to treatments and progresses to more advanced stages. Here, we identify the spliceosome U2 small nuclear ribonucleoprotein particle (snRNP) complex as a modulator of chemotherapy efficacy in TNBC.

Machine Learning Prediction Model to Predict Length of Stay of Patients Undergoing Hip or Knee Arthroplasties: Results from a High-Volume Single-Center Multivariate Analysis.

The growth of arthroplasty procedures requires innovative strategies to reduce inpatients' hospital length of stay (LOS). This study aims to develop a machine learning prediction model that may aid in predicting LOS after hip or knee arthroplasties. A collection of all the clinical notes of patients who underwent elective primary or revision arthroplasty from 1 January 2019 to 31 December 2019 was performed.

Tubal Cancer Clinical Management: Two Exceptional Scenarios and a Review of the Literature.

This article provides a literature review on tubal carcinoma to offer an updated insight into its preventative strategies, diagnosis, treatment and oncological surveillance. In addition to the search string utilized, the authors' focus extended to key scientific studies, consensus statements, guidelines and relevant case reports essential for the proper clinical management of the disease, providing a methodologically well-structured literature review combined with practical expertise in the oncological field. This article also includes two special clinical cases that emphasize the importance of understanding the physiopathology and the current state of the art in the anatomopathological advancements in tubal/ovarian/peritoneal carcinoma, often assimilated into a single clinical entity and to which many of the concepts extracted from the literature can apply.

Fat Grafting and Prepectoral Prosthetic Reconstruction with Polyurethane-Covered Implants: Protective Role against Adjuvant Radiotherapy.

Breast cancer treatment increasingly incorporates immediate prepectoral prosthetic reconstruction after conservative mastectomy, including nipple-sparing (NSMs) and skin-sparing mastectomies (SSMs). Although recent data from the literature show that postmastectomy radiotherapy (PMRT) after prepectoral reconstruction presents good clinical results, with reduction in capsular contracture and implant migration, compared to the traditional submuscular technique, these patients have higher rates of long-term complications when compared with nonradiated patients. This study evaluates the protective effects of autologous fat grafting to reduce long-term radiotherapy-induced complications in breast cancer patients submitted for prepectoral reconstruction with polyurethane-covered (PU) implants.

Fibrin Scaffolds Perfused with Transforming Growth Factor-β1 as an In Vitro Model to Study Healthy and Tendinopathic Human Tendon Stem/Progenitor Cells.

A limited understanding of tendon cell biology in healthy and pathological conditions has impeded the development of effective treatments, necessitating in vitro biomimetic models for studying tendon events. We established a dynamic culture using fibrin scaffolds, bioengineered with tendon stem/progenitor cells (TSPCs) from healthy or diseased human biopsies and perfused with 20 ng/mL of human transforming growth factor-β1 for 21 days. Both cell types showed long-term viability and upregulated Scleraxis (SCX-A) and Tenomodulin (TNMD) gene expressions, indicating tenogenic activity.

Central nervous system pediatric multi-disciplinary tumor board: a single center experience.

Background: The Multidisciplinary Tumor Board (MTB) is a collaborative platform involving specialists in oncology, surgery, radiology, pathology, and radiotherapy, and aims to optimize diagnostics and treatments. Despite MTB's widespread benefits, limited literature addresses its application in pediatric neuro-oncology. After a literature revision on pediatric neuro-oncology MTB, our study describes our institute's pediatric neuro-oncology MTB, focuses on evaluating its impact and the neuroradiologist's role in patient-centric approaches, considering recent genetic insights into pediatric brain tumors.

Racial and ethnic differences in access to care and treatment in patients with suspected acute stroke: A retrospective, observational, cohort study.

Background: Data regarding unequal diagnostic and therapeutic access in patients with acute stroke based on ethnicity and race are inconclusive in Europeans. The objectives of our study were to evaluate the effect of race/ethnicity on access to acute stroke care and treatments and outcomes.

Methods: In this retrospective cohort study, we enrolled adult patients admitted to the emergency department of a comprehensive stroke center for suspected stroke.

Smart working during the COVID-19 pandemic: the prevalence of musculoskeletal and visual disorders in administrative staff of a large international company.

Introduction: During the COVID-19 Pandemic, the use of digital devices during work activities has increased with important repercussions on the psychological and physical well-being of the employees. The aim of this study was to investigate the prevalence of musculoskeletal and visual disorders related to the use of computers and home workstation.

Methods: The study is a cross-sectional study.