La malattia di Gorham-Stout (GSD) rappresenta una rara patologia caratterizzata da osteolisi progressiva associata ad anomala proliferazione di strutture vascolari e linfatiche. La perdita di tessuto osseo può essere così rapida ed estesa da determinare la scomparsa completa di interi segmenti scheletrici, conferendo alla malattia il nome colloquiale di “malattia dell’osso fantasma”. Nonostante i progressi nella ricerca biomedica, l’eziopatogenesi della GSD rimane solo parzialmente definita. Infatti, i meccanismi molecolari e cellulari alla base del processo osteolitico non sono stati ancora completamente identificati. Questo articolo si propone di fornire una panoramica degli studi che hanno analizzato le alterazioni del rimodellamento osseo nei pazienti affetti da GSD, con l’obiettivo di delineare nuovi scenari per lo sviluppo di strategie diagnostiche e terapeutiche innovative. Saranno inoltre discussi i risultati degli studi genetici e le opzioni terapeutiche attualmente disponibili, sottolineando con particolare attenzione le prospettive future per il miglioramento della gestione clinica e del trattamento della malattia.
ABSTRACT Background and Aim Severe obesity is associated with physical comorbidity and impaired health‐related quality of life (HRQoL). Although metabolic and bariatric surgery (MBS) is generally associated with improvements in HRQoL and mental health, inter‐individual variability is substantial, and the functional mechanisms through which preoperative psychological distress may influence postoperative HRQoL trajectories are incompletely characterized. To provide a clearer mechanistic framework, this study examined whether baseline depressive and anxiety symptoms predict 12‐month HRQoL and whether reductions in functional psychosocial impairment mediate these improvements. Methods Single‐center longitudinal cohort of adults with severe obesity undergoing metabolic and bariatric surgery. Assessments at baseline (T0) and 12 months (T1) included the Patient Health Questionnaire–9 (PHQ‐9), Generalized Anxiety Disorder–7 (GAD‐7), Clinical Impairment Assessment (CIA), and the 36‐Item Short Form Health Survey (SF‐36). Bayesian multilevel mediation models (BMLM) adjusted for sociodemographic and clinical covariates were used. Results Participants (n = 251; 76.9% women) showed significant reductions in depressive and anxiety symptoms, psychosocial impairment, and BMI from T0 to T1, alongside improvements in all SF‐36 domains (p < 0.001). Mediation analyses revealed that reductions in psychosocial impairment significantly mediated the relationship between baseline depressive symptoms and HRQoL improvements, explaining up to 42% of the total effect. Anxiety symptoms showed weaker and less consistent mediation. Sensitivity analyses confirmed the robustness of findings across specifications. Conclusion MBS enhances HRQoL and reduces psychological distress. Psychosocial impairment mediates these benefits, especially for depressive symptoms. Integrating psychosocial assessment into pre‐ and postoperative care may help identify vulnerable patients and optimize long‐term outcomes.
Textbook Outcome (TO) combines optimal surgical outcomes into a single measure. This study evaluates achievement of TO using a multicenter database, assessing hospital variation, its correlation with early and late results, and refining a tailored definition of Textbook Outcome in Gastric Surgery (TOGS). Data from patients undergoing curative gastrectomy (2011–2020) in Italian centers affiliated to the Italian Gastric Cancer Research Group (GIRCG) were analyzed. TOGS was introduced at the 2024 GIRCG Annual Meeting in Siena (Italy). Among 1988 patients (median age 72 years, BMI 24.9 kg/m2), 1523 underwent surgery in higher-volume centers (≥ 30 cases per year) and 465 in lower-volume centers (15–30 cases per year). TO was achieved in 54.6
Background:Acute exacerbations of COPD (AECOPDs) may cause exercise-induced desaturation (EID), affecting recovery and rehabilitation outcomes. The prevalence and clinical implications of EID during early postexacerbation pulmonary rehabilitation are unclear. This study aimed to determine the prevalence of EID in COPD patients recovering from AECOPDs, with and without long-term oxygen therapy (LTOT) at rest, and to compare clinical, functional, and physiological characteristics. Methods:This retrospective, multicenter study included 262 COPD patients admitted for inpatient pulmonary rehabilitation after AECOPDs. Participants were stratified by resting oxygen therapy status. EID was defined as a ≥4% fall in peripheral oxygen saturation from baseline with nadir <90% during the 6-minute walking test. Clinical, functional, and physiological parameters were compared across subgroups. Results:Overall, 132 patients (50.4%) exhibited EID. Prevalence was higher in patients on oxygen at rest (61.5%) than in those breathing room air (33.9%, p <0.0001). Patients on oxygen therapy had greater lung function impairment, reduced exercise capacity, and higher dyspnea-related disability. EID was associated with greater heart rate response in patients on supplemental oxygen but not consistently with perceived dyspnea or fatigue, highlighting the importance of objective oximetry during exercise testing. Regardless of EID, individuals on oxygen walked shorter distances than those on room air. Conclusions:EID is common in COPD patients recovering from AECOPD, especially those receiving LTOT, and is linked to more severe functional impairment. Systematic EID assessment using objective oximetry during early pulmonary rehabilitation may support individualized oxygen titration and exercise prescriptions. Prospective studies are needed to clarify its prognostic implications.
Heart rate variability (HRV) reflects the complex interplay of physiological systems, like the autonomic nervous system, which modulates HRV through parasympathetic and sympathetic branches. This study investigates the multiscale multifractal properties of HRV and the influence of autonomic control using an optimized Detrended Fluctuation Analysis (DFA) framework. Building on prior work, we applied a multifractal multiscale DFA to series of cardiac intervals recorded in 9 healthy volunteers before and during selective autonomic blocks (parasympathetic, sympathetic, combined, and central sympathetic). We quantified fractal components over the scales between 9 and 120 s, using moment orders from – 5 to +5 to differentiate between low- and high-amplitude fluctuations. Results reveal that HRV exhibits intrinsic multiscale multifractality, with distinct scale-dependent patterns for different amplitude components. Autonomic blocks alter these patterns: parasympathetic blockade significantly increases the coefficients at scales shorter than 30 s for high-amplitude components and between 20 and 50 s for low-amplitude components, and sympathetic blockade decreases the coefficients at scales around 50 s for the high-amplitude components. Furthermore, unlike sympathetic blockade, parasympathetic blockade increases the degree of multiscale multifractality. This suggests that the multifractal dynamics of high-amplitude components arise from the superposition of autonomic influences with distinct transfer functions—flat for vagal and low-pass for sympathetic modulation; and that the parasympathetic outflow may also contribute to the multifractality of low-amplitude components. In conclusion, this study underscores the potential of multiscale multifractal analysis in characterizing cardiovascular control and the valuable insights it may offer for diagnosing dysautonomia and monitoring therapeutic interventions.
