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79 citation(s) found for "Na, Annalisa".

SADA-14 WHEN COMPLICATIONS MATTER: THE IMPACT OF POSTOPERATIVE ADVERSE EVENTS ON SURVIVAL AND QUALITY OF LIFE IN METASTATIC SPINE DISEASE
Hardigan, Andrew, Griffoni, Christina, Noli, Luigi Emanuele, Monetta, Annalisa , Disch, Alexander, Gokaslan, Ziya L, Fehlings, Michael G, Verlaan, Jorrit-Jan, Chou, Dean , Rhines, Laurence, Shin, John, Teixeira, William G J, Sciubba, Daniel M. , Bettegowda, Chetan, Charest-Morin, Raphaële , Weber, Michael H, O’Toole, John E, Netzer, Cordula, Mesfin, Addisu, Mummaneni, Praveen V., Dea, Nicholas, Reynolds, J., Sahgal, Arjun, Fisher, Charles G, Gasbarrini, Alessandro, Tumor, AO Spine Knowledge Forum, Goodwin, C Rory, Hardigan, Andrew A. , Bròdano, Giovanni Barbanti , Salamanna, Francesca , Lazáry, Áron , Fehlings, Michael G. , Verlaan, Jorrit‐Jan , Rhines, Laurence D. , Teixeira, William Gemio Jacobsen , Bettegowda, Chetan , Boriani, Stefano , Goldschlager, Tony , Clarke, Michelle J. , Mesfin, Addisu , Mummaneni, Praveen V. , Dea, Nicolas , Reynolds, Jeremy , Fisher, Charles, Gasbarrini, Alessandro

Neuro-Oncology Advances | August 7, 2026 | Volume: 8 | Issue: Supplement_6 | Pages: No page available

10.1093/noajnl/vdag161.112 Get It

Abstract Introduction As the incidence of metastatic spine disease (MSD) increases, treatments to manage refractory pain, pathologic vertebral body fractures, and spinal cord compression are becoming increasingly common. Given the palliative nature of surgical intervention used to achieve tumor control and thus mitigate loss of neurologic function and compromised ambulatory function, it is essential to mitigate the risk of such procedures. Methods The AO Spine Knowledge Forum Tumor’s Metastatic Tumor Research and Outcomes Network (MTRON), an international, prospective registry for patients with spinal metastases, was used for this query. Prospective collection included baseline health and demographic information, oncologic data (including Spinal Instability Neoplastic Score (SINS) score and Bilksy epidural compression classification), and baseline functional status (preoperative American Spinal Injury Association (ASIA) and ECOG scores). Health related quality of life (HRQoL) data included Spine Oncology Study Group Outcomes Questionnaire (SOSGOQ2.0) and Euro-QoL measures. Surgery related adverse events (AE’s) were collected using the Spine Adverse Events Severity (SAVES V2) framework. Kaplan-Meir curves were used to assess survival. Results The cohort consisted of 1267 patients, 701 male (55.3%). A total of 245 (19.3%) experienced at least one postoperative AE, the majority of which were considered minor (grade 3 or less). Among the most common were deep wound infections (3.2%), wound dehiscence (2.5%), and urinary infections (2.4%). A multivariate analysis demonstrated that age, smoking status, ECOG performance, prior radiotherapy, presence of multiple metastases at other sites, and multiple spine metastases were significant risk factors for a postoperative AE. Postoperative AE’s (p = 0.049) and major postoperative AE’s (p = 0.0038) were found to be related to survival as well as a significant change in HRQoL scores (p < 0.001). Conclusion Postoperative AE’s are extremely relevant to the care of patients with MSD and impact both HRQoL and survival.
The International Academy for Clinical Hematology (IACH) 2026–2030 strategic vision and roadmap: Building the global reference for education, collaboration, and innovation in clinical hematology
Mohty, Mohamad , Savani, Bipin N. , Bazarbachi, Ali , Huang, He , Malard, Florent , Kharfan‐Dabaja, Mohamed A. , Martens, Thierry , Brissot, Éolia , Zeidan, Amer M., Pemmaraju, Naveen , Shoham, Zeev , Ortiz, Júnia , Nagler, Arnon , Zeidan, Amer M. , Savani, Bipin N , Zeidan, Amer M , Mohty, Mohamad , Blaise, Didier , Facon, Thierry T.F. , Perić, Zinaida , Ruggeri, Annalisa , Melo, Junia V.

Clinical Hematology International | June 15, 2026 | Volume: 8 | Issue: 2 | Pages: No page available

10.46989/001c.163209 Get It

The International Academy for Clinical Hematology (IACH) is a global, non-profit educational organization dedicated to advancing excellence, equity, and innovation in clinical hematology. Since its creation, the IACH has built an international community spanning more than 130 countries, leveraging digital-first education, scientific collaboration, and professional networking to improve patient care worldwide. This document presents the IACH Strategic Vision for 2026–2030, outlining a structured roadmap for the Academy’s next phase of growth and international leadership. The strategy is built upon six interdependent pillars: scientific excellence and credibility; digital leadership and intelligent learning; academic alliances and global footprint; innovation, visibility, and advocacy; transparency and sustainability; and brand positioning with global impact. By reinforcing scientific rigor, embracing digital transformation, and promoting innovation, the IACH aims to become the most trusted global reference for clinical hematology education and collaboration. This strategic vision positions the IACH as a unifying platform to unite the world hematology community under one banner of knowledge, collaboration, and compassion, for the benefit of every patient, everywhere.
frontMIND: Phase 3 study of tafasitamab (Tafa) plus lenalidomide (Len) and R-CHOP for patients (pts) with newly diagnosed diffuse large B-cell lymphoma (DLBCL).
Lenz, Georg, Trněný, Marek, Burke, John M., Nowakowski, Grzegorz S., Düll, Johannes, Jeon, Youngwoo , Cheah, Chan, Westin, Jason, Ye, Joseph Z., Caguioa, Priscilla B. , Belada, David, Shin, Ho Jin, Amorim, Sandy, Colucci, Philomena, Ioannidis, Sonia, Lenz, Georg , Trněný, Marek , Burke, John M. , Nowakowski, Grzegorz S. , Fox, Christopher P. , Chiappella, Annalisa , Westin, Jason R. , Belada, David , Oh, Sung Yong , Colucci, Philomena M., Cheng, Lulu L , Vitolo, Umberto

Journal of Clinical Oncology | June 3, 2026 | Volume: 44 | Issue: 17_suppl | Pages: No page available

10.1200/jco.2026.44.17_suppl.lba7000 Get It

LBA7000 Background: ~40% of DLBCL pts are not cured with first-line (1L) R-CHOP, underscoring a significant unmet need for more effective 1L regimens. Tafa (anti-CD19 mAb) + Len-R-CHOP in the phase 1b First-MIND study demonstrated safety and efficacy in pts with newly diagnosed disease. frontMIND, a phase 3, double-blind, placebo-controlled study, compared Tafa-Len-R-CHOP vs R-CHOP in pts with high-risk aggressive BCLs. Methods: Pts aged 18–80 y with newly diagnosed, high-intermediate/high-risk DLBCL or HGBL (IPI 3–5, aaIPI 2–3 if ≤60 y) and ECOG PS 0–2 were randomized 1:1 to Tafa-Len-R-CHOP or R-CHOP. Primary endpoint was investigator-assessed PFS; secondary endpoints included: EFS, OS, CR, ORR, safety. Results: At primary analysis (data cutoff Oct 20, 2025), 899 pts were randomized to Tafa-Len-R-CHOP (n=448) or R-CHOP (n=451); baseline characteristics were similar between arms. With a median follow-up of 35.2 mo, Tafa-Len-R-CHOP achieved a statistically significant improvement in PFS vs R-CHOP (HR 0.75 [95% CI: 0.59, 0.96]; P =0.019) in the overall population; in pts with centrally confirmed lymphoma subtypes (n=773), PFS HR was 0.68 (95% CI: 0.52, 0.88) and 24-mo PFS was 72.7% vs 62.2%. PFS benefit was observed with Tafa-Len-R-CHOP in both molecular COO subtypes, ABC and GCB (data will be presented). Tafa-Len-R-CHOP significantly improved EFS vs R-CHOP; CR and ORR were similar between arms and HR for OS was 0.85 (final OS planned at 5y) (Table). Any-grade TEAEs were similar in treatment arms (98.6% vs 97.1%); more grade ≥3 TEAEs occurred with Tafa-Len-R-CHOP vs R-CHOP (86.7% vs 76.1%). Discontinuations due to TEAEs occurred in 25.7% vs 17.9% and deaths due to TEAEs in 5.9% vs 3.8% of pts for Tafa-Len-R-CHOP vs R-CHOP. Overall, there were fewer deaths with Tafa-Len-R-CHOP vs R-CHOP (18.5% vs 21.7%). Conclusions: The primary endpoint of frontMIND was met; Tafa-Len-R-CHOP resulted in a significant 25% reduction in risk of disease progression or death compared with R-CHOP, with an 8.2% difference in 24-month PFS rate in the overall population and 10.5% difference in pts with centrally confirmed lymphoma subtypes. TEAEs were manageable and consistent with the expected safety profile. Tafa-Len-R-CHOP represents a potential new 1L standard of care for pts with both COO subtypes of high-risk DLBCL or HGBL. Clinical trial information: NCT04824092 . Efficacy outcomes by treatment arm.* Variable Tafa-Len-R-CHOP(n=448) R-CHOP(n=451) HR or OR(95% CI) P value PFS, # events (%) † 121 (27.0) 155 (34.4) 0.75 (0.59, 0.96) 0.019 PFS rate at 24 mo, % 71.1 62.9 − − PFS rate at 36 mo, % 67.3 60.7 − − EFS, # events (%) 154 (34.4) 191 (42.4) 0.79 (0.64, 0.97) 0.026 OS, # events (%) 82 (18.3) 95 (21.1) 0.85 (0.63, 1.14) 0.270 CR at EOT, n (%) 292 (65.2) 294 (65.2) 0.998 (0.76, 1.31) 0.987 ‡ ORR at EOT, n (%) 360 (80.4) 343 (76.1) 1.290 (0.94, 1.78) 0.120 ‡ *Investigator-assessed. † Progressive disease or death from any cause. ‡ Nominal P value.
Safety, tolerability, and efficacy of GLP-1 receptor agonists (GLP-1 RA) in the management of post–liver transplant weight gain: A multicenter, observational study
Khan, Mohammad Qasim , Becchetti, Chiara , Jouid, M R, Mortuza, Rokhsana , Panda, Saurav, Pierluissi, Valeria , Stegagnini, M. , Bajunayd, Amani, Viganò, Raffaella, Ogunsakin, E, Elzaanoun, Reyad, Wadhwani, Arpana Kumari, Belli, Luca Saverio, Berzigotti, Annalisa, Watt, Kymberly D., Khan, Mohammad Qasim , Punchhi, Gopika , Viganò, Raffaella , Ogunsakin, Ropo Ebenezer , Elzaanoun, Reyad, Berzigotti, Annalisa , Watt, Kymberly D.

Liver Transplantation | May 28, 2026 | Volume: No volume available | Issue: No issue available | Pages: No page available

10.1097/lvt.0000000000000917 | PMID 42208060 Get It

Post–liver transplant (LT) weight gain and metabolic dysfunction predispose to cardiovascular (CV) morbidity, allograft steatosis, and reduced long-term survival. Glucagon-like peptide-1 receptor agonists (GLP-1 RAs) promote weight loss and improve cardiometabolic health, yet evidence in liver transplant recipients (LTRs) is limited. We aimed to evaluate the safety, tolerability, and efficacy of GLP-1 RAs in post-LT weight management. We performed a multicenter retrospective cohort study of adult LTRs treated with GLP-1 RAs across 4 international centers (January 1, 2010–June 30, 2025). Regular GLP-1 RA users were compared with matched non-users by age, sex, obesity, and diabetes status, transplant year, and center. The primary outcome was the change in body weight 1-year post-exposure. Secondary outcomes included glycemic and lipid profiles, kidney and allograft function, immunosuppression effects, major adverse cardiovascular events (MACE), and adverse effects. Longitudinal analyses used linear mixed models with multiple imputation. Among 104 GLP-1 RA users, 68.3% initiated therapy for diabetes; subcutaneous semaglutide was most used at a median dose of 0.82±0.46 mg weekly. Treatment led to significant reductions in body weight (−3.8 kg; −3.9%, p <0.001), body mass index (BMI) (−1.6 kg/m 2 ; −5.0%, p <0.001), and glycated hemoglobin (HbA1c) (−0.48%, p =0.002), with modest lipid improvement. Liver function tests and immunosuppression trough levels remained stable, and no treatment-limiting adverse events occurred. In matched analyses (80 GLP-1 RA users vs. 116 non-users), GLP-1 RAs facilitated greater weight loss (−3.4 kg difference, p =0.009) and HbA1c reduction (−0.43% difference in HbA1c, p =0.042) without increased risk of allograft dysfunction, T-cell–mediated rejection (TCMR), or MACE. This multicenter, international study demonstrates GLP-1 RAs are safe and moderately effective in reducing weight and improving metabolic parameters post-LT, without adverse effects on allograft function or immunosuppression, despite limitations of low dosing. Prospective, randomized trials of GLP-1 RAs in LTRs are thus warranted.
Natural History of Patients With Histologically Proven Acute Eosinophilic Myocarditis
Ammirati, Enrico, Palazzini, Matteo , Lehtonen, Jukka , Potena, Luciano , Mäyränpää, Mikko I. , Rågback, Johanna, Uribarri, Aitor , Thiele, H, Vidal‐Burdeus, María , Freund, Anne, Gustafsson, F., Tschöpe, C., Elsanhoury, Ahmed , Ihle, Joshua , Rudi, Wolf‐Stephan , Grabmaier, Ulrich , Merlo, Marco, Weislova, Ivana, Jellinghaus, Stefanie, Linke, A, Baldovini, Chiara , Adorisio, R, Kuchyňka, Petr, Palecek, T, Krejčí, Jan, Poloczková, Hana , Caterino, Anna Laura, Lovell, Jana , Macomb, Elaine P., Shih, Jeffrey, Hong, Kimberly N. , Ruschitzka, Frank, Cavallini, Claudio, Riccini, Clara, Kamal, Mohamed, Groh, Matthieu, Garascia, Andrea , Lala, Anuradha, Shimokawa, Hiroaki, Sionis, A, Schmidt, Matthieu, Grosu, Aurelia, Bollano, Entela , Turco, Annalisa , Crespo-Leiro, M., Couto-Mallón, David, Cannata, Antonio, Narducci, M L, Cicchitti, Vincenzo , Ianni, Umberto , L, De Luca, Frea, Simone, Schroeder, J. W., Arias, Aníbal , Emdin, Michele, Corda, Marco , Pasqualucci, Daniele , Greulich, Simon , Gawaz, M, Manuylova, Tatiana, Martinez-Selles, M, Pérez, Francisco José Hernández, Centellas, Alba Martín , Trankle, Cory R. , Halushka, Marc K., Abbate, Antonio, Basso, Cristina, Sinagra, Gianfranco, Veronese, Giacomo , Camici, PG, Adler, Eric D., Cooper, Leslie T., Gustafsson, Finn , Tschöpe, Carsten , Thiele, Hölger , Ammirati, Enrico , Potena, Luciano , Ammirati, Enrico , Foà, Alberto , Uribarri, Aitor , Thiele, Holger , Vidal-Burdeus, María , Freund, Anne , Gustafsson, Finn , Tschöpe, Carsten , Elsanhoury, Ahmed , Ihle, Joshua , Grabmaier, Ulrich , Merlo, Marco , Melenovský, Vojtěch , Weislova, Ivana , Linke, Axel , Baldovini, Chiara , Kuchynka, Petr , Krejčí, Jan , Gilotra, Nisha A , Hong, Kimberly , Rossi, Valentina A , Ruschitzka, Frank T. , Kamal, Mohamed , Huang, Florent , Groh, Matthieu , Gentile, Piero , Garascia, Andrea , Shimokawa, Hiroaki , Vandenbriele, Christophe , Sionis, Alessandro , Schmidt, Matthieu , Bollano, Entela , Crespo-Leiro, Maria Generosa , Cannatà, Antonio , Bromage, Daniel I , Narducci, Maria Lucia , Cicchitti, Vincenzo , Ianni, Umberto , De Luca, Leonardo , Mistrulli, Raffaella , Frea, Simone , Raineri, Claudia , Schroeder, Jan W , Arias, Anibal Martin , Emdin, Michele , Greulich, Simon , Gawaz, Meinrad , Martínez-Sellés, Manuel , Hernández Pérez, Francisco José , Dominguez, Fernando , D'Alessandris, Nicoletta , Trankle, Cory , Halushka, Marc K , Moroni, Francesco , Abbate, Antonio , Basso, Cristina , Sinagra, Gianfranco , Veronese, Giacomo , Camici, Paolo G , Adler, Eric D , Bernasconi, Davide P , Klingel, Karin , Cooper, Leslie T , Foà, Alberto , Vidal-Burdeus, María , Merlo, M, Melenovský, Vojtěch , Adorisio, Rachele , Paleček, Tomáš , Krejčí, Jan , Cavallini, Claudio , Riccini, Clara, Gentile, Piero , Lala, Anuradha , Shimokawa, Hiroaki , Vandenbriele, Christophe , Couto‐Mallón, David , Luca, Leonardo De , Frea, Simone , Corda, Marco , Domínguez, Fernándo , Gaillet, Antoine , Halushka, Marc K. , Abbate, Antonio , Basso, Cristina , Cooper, Leslie T.

Circulation | February 6, 2026 | Volume: 153 | Issue: 9 | Pages: 634-652

10.1161/circulationaha.125.074797 | PMID 41645905 Get It

BACKGROUND: No large registries of patients with acute eosinophilic myocarditis (EM) are available. However, EM is perceived as a cardiac disease with high mortality, affecting mainly young and middle-aged adults according to small series and case reports. Awareness of the clinical presentation, associated systemic conditions, treatments, and outcomes of this uncommon condition is an unmet need. METHODS: In this international, multicenter, retrospective cohort study, 53 centers screened 193 patients with histologically proven acute EM between 1992 and 2023. After the exclusion of patients with insufficient data (n=10), symptoms lasting >30 days (n=19), or histological diagnosis not confirmed after review (n=8), 156 patients were included. RESULTS: Median age at presentation was 48 years (first to third quartile, 34–59 years) with male predominance (67.3%), and only 2 were pediatric cases (≤16 years of age; 1.3%). The main signs and symptoms at presentation were dyspnea (75.6%), fever (61.3%), and chest pain (53.2%). Unexpectedly, peripheral eosinophilia was reported in only 57.4% of cases, with a median cell count of 630 eosinophils/μL. The median left ventricular ejection fraction at presentation was 32% (first to third quartile, 25%–48%). The disorders most frequently associated with EM were eosinophilic granulomatosis with polyangiitis (22.4% of cases) and hypersensitivity forms (14.1%). Idiopathic/undefined forms accounted for 44.9% of cases, and miscellaneous causes accounted for 18.6%. In-hospital death or need for heart transplantation (HTx) occurred in 23 patients (14.7%; 22 deaths and 1 HTx), despite 43.6% being treated with temporary mechanical circulatory support and 92.9% being treated with immunosuppressive agents. Estimated rates of death or HTx at 1 and 3 years were 19.0% and 23.8%. Increased age, decreased left ventricular ejection fraction on admission, and no immunosuppressive therapy during hospitalization were independent predictors of death or HTx. A nonsignificant higher occurrence of deaths or HTx was observed in the hypersensitivity form (46.1%) compared with the eosinophilic granulomatosis with polyangiitis–associated form (13.1%) at 3 years ( P =0.15). CONCLUSIONS: Acute EM can often present without peripheral eosinophilia, and rates of in-hospital and midterm mortality or HTx are high. Endomyocardial biopsy is required to reach the final diagnosis of EM because relying on peripheral eosinophilia can lead to missing diagnosis. In-hospital immunosuppression is associated with HTx-free survival, although tailored immunosuppressive therapies are needed to improve outcomes. REGISTRATION: URL: https://www.clinicaltrials.gov ; Unique identifier: NCT06447935.
Multimodality Cardiovascular Imaging in Patients After Coronary Artery Bypass Grafting: Diagnosis and Risk Stratification
Mura, Lucia La , Pasquini, Annalisa , D′Antonio, Adriana , Beneki, Eirini , Ullah, Irfan , Avagimyan, Ashot, Abdelnabi, Mahmoud, Ibrahim, Ramzi, Jaiswal, Vikash , Perone, Francesco , La Mura, Lucia , Ullah, Irfan , Perone, Francesco , Pasquini, Annalisa , D′Antonio, Adriana , Beneki, Eirini , Avagimyan, Ashot, Abdelnabi, Mahmoud, Ibrahim, Ramzi, Jaiswal, Vikash

Diagnostics | December 17, 2025 | Volume: 15 | Issue: 24 | Pages: 3224

10.3390/diagnostics15243224 | PMID 41464223 Get It

Coronary artery bypass grafting (CABG) remains a cornerstone of treatment for patients with advanced or complex coronary artery disease, yet long-term success is influenced by graft patency, progression of native disease, and ventricular remodeling. Optimizing the follow-up of these patients requires a structured approach in which multimodality cardiovascular imaging plays a central role. Echocardiography remains the first-line modality, providing readily available assessment of ventricular function, valvular competence, and wall motion, while advanced techniques, such as strain imaging and myocardial work, enhance sensitivity for subclinical dysfunction. Coronary computed tomography angiography (CCTA) offers excellent diagnostic accuracy for graft patency and native coronary anatomy, with emerging applications of CT perfusion and fractional flow reserve derived from CT (FFR-CT) expanding its ability to assess lesion-specific ischemia. Cardiovascular magnetic resonance (CMR) provides comprehensive tissue characterization, quantifying scar burden, viability, and inducible ischemia, and stress CMR protocols have demonstrated both safety and independent prognostic value in post-CABG cohorts. Nuclear imaging with single-photon emission computed tomography (SPECT) and positron emission tomography (PET) remains essential for quantifying perfusion, viability, and absolute myocardial blood flow, with hybrid PET/CT approaches offering further refinement in patients with recurrent symptoms. In patients after CABG, multimodality imaging is tailored to the patient’s characteristics, symptoms, and pre-test probability of disease progression. In asymptomatic patients, imaging focuses on surveillance, risk stratification, and the early detection of subclinical abnormalities, whereas in symptomatic individuals, it focuses on establishing the diagnosis, defining prognosis, and guiding therapeutic interventions. Therefore, the aim of our review is to propose updated and comprehensive guidance on the crucial role of multimodality cardiovascular imaging in the evaluation and management of post-CABG patients and to provide a practical, evidence-based framework for optimizing outcomes.
Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing
Erdmann, Hannes , Schaub, Annalisa , Lucas, Morghan C. , Scholz, Veronika , Benet‐Pagès, Anna , Dineiger, Christine, Mayer, Veronika, Buren, Inga Van , Breithausen, Eva, Akbari, Karl, Sauer, Mayra , Krakowsky, Rosanna , Schnabel, Franziska , Dunker, Konstanze, Fabritius, Lena, Gerb, Johannes , Grabova, Denis , Möhwald, Ken , Näher, Marius, Steinmetz, Karoline , Thiessen, Franziska, Jäck, Alexander , Schreyer, Isolde, Mämecke, Larissa, Wilfling, Sibylle, Wunderlich, Gilbert , Hellenbroich, Yorck, Muhle, Kirsten, Claus, Inga, Klopstock, Thomas, Strupp, Michael, Xiong, Chengjie , Huppert, Doreen , Becker‐Bense, Sandra , Filippopulos, Filipp , Kilpert, Fabian , Kaya, Sabine, Schöberl, Florian, Neuhann, Teresa , Holinski‐Feder, Elke , Zwergal, Andreas , Abicht, Angela, Cordts, Isabell , Gerb, Johannes , Brenner, David , Xiong, Chengjie , Kilpert, Fabian , Depienne, Christel , Zwergal, Andreas , Becker, Kerstin , Mayer, Veronika, Akbari, Karl, Schneider, Christine B. , Thiessen, Franziska, Schneider-Gold, Christiane , Zittel, Simone , Petersen, Christina, Huchtemann, Tessa , Höglinger, Günter U. , Leitão, Elsa , Depienne, Christel , Abicht, Angela

Brain | September 1, 2025 | Volume: 149 | Issue: 3 | Pages: 993-1006

10.1093/brain/awaf318 | PMID 40898875 Get It

Abstract Hereditary adult-onset ataxias are a heterogeneous group of phenotypically overlapping conditions, often caused by pathogenic expansions of short tandem repeats. Currently, 18 repeat disorders with a core phenotype of adult-onset ataxia are known. Diagnosis typically relies on sequential PCR-based methods, which are labour-intensive and lack precision. Long-read sequencing (LRS) has the potential to overcome these limitations and is currently implemented and validated in clinical genetics. Using clinical nanopore Cas9-targeted sequencing (Clin-CATS) for parallel in-depth repeat analysis, we evaluated a diagnostic cohort of 513 adult-onset ataxia patients, determining frequencies of all known repeat-associated ataxias except Spinocerebellar ataxia 4 (SCA4), as well as the carrier frequencies for autosomal-recessive disorders, RFC1 spectrum disorder and Friedreich’s ataxia (FRDA). Additionally, phenotypes of patients with established genetic diagnoses were characterized, especially those of patients living with RFC1 spectrum disorder and SCA27B. Repeat-associated ataxias were confirmed in 33.3% of cases, including rare ataxias, such as SCA10, SCA36 and SCA37, alongside as the most prevalent conditions SCA27B and RFC1 spectrum disorder. Potentially pathogenic expansions in FGF14 were identified in an additional 4.7% of patients. Testing of another 347 patients for ZFHX3 expansions linked to SCA4 did not identify any cases. Dual diagnoses were frequent, occurring in 6.4% of patients with repeat-associated ataxia. We confirmed a high RFC1 spectrum disorder carrier frequency (7.2%) and reclassified certain FXN expansions as likely non-pathogenic, resulting in a lower than estimated carrier frequency for FRDA of 0.8%. We also identified novel repeat configurations in several loci and illustrated the high heterogeneity of repeat expansions in RFC1, highlighting it as a potential source of false results when using PCR-based methods. This study underscores the diagnostic advantages of LRS for comprehensive repeat analysis and recommends its adoption as a standard in clinical genetics, replacing Southern blot and PCR-based approaches. Furthermore, based on our findings in a large patient cohort a re-evaluation of existing phenotype-genotype correlations is recommended as well as evaluating additional parameters alongside the repeat length to improve diagnostic precision of repeat analysis.
Evaluation of Adverse Events and the Impact on Health-Related Outcomes in Patients Undergoing Surgery for Metastatic Spine Tumors: Analysis of the Metastatic Tumor Research and Outcomes Network (MTRON) Registry Dataset
Noli, Luigi Emanuele, Monetta, Annalisa , Disch, Alexander C. , Lazáry, Áron , Laufer, Ilya , Gokaslan, Ziya L. , Verlaan, Jorrit‐Jan , Chou, Dean , Rhines, Laurence D. , Shin, John H., Teixeira, William Gemio Jacobsen , Sciubba, Daniel M. , Charest-Morin, Raphaële , Weber, Michael H. , OʼToole, John E. , Mummaneni, Praveen V., Dea, Nicolas, Reynolds, Jeremy , Sahgal, Arjun , Fisher, Charles G., Tumor, AO Spine Knowledge Forum, Reynolds, Jeremy , Griffoni, Cristiana , Lazary, Aron , Fehlings, Michael G , Rhines, Laurence D , Charest-Morin, Raphaële , Netzer, Cordula , Goodwin, C Rory , Mesfin, Addisu , Reynolds, Jeremy , Bròdano, Giovanni Barbanti , Salamanna, Francesca , Luzzati, Alessandro , Barzilai, Ori , Fehlings, Michael G. , Bettegowda, Chetan , Boriani, Stefano , Goldschlager, Tony , Clarke, Michelle J. , Goodwin, C. Rory , Mummaneni, Praveen V. , Dea, Nicolas , Fisher, Charles G., Gasbarrini, Alessandro , Tumor, AO Spine Knowledge Forum

Global Spine Journal | June 25, 2025 | Volume: 16 | Issue: 1 | Pages: 410-433

10.1177/21925682251347247 | PMID 40480956 Get It

Study Design This study is part of the AO Spine Metastatic Tumor Research and Outcomes Network [MTRON], an international multicenter prospective observational registry including patients with spinal metastases. Objectives This study aims to elucidate the incidence of surgical complications, their risk factors and consequent effects on survival outcomes, hospital length of stay, and overall health-related quality of life (HRQOL) parameters in a large cohort of patients affected by spinal metastases who were surgically treated. Methods Available data from February 2017 to July 2023 were analyzed. The primary outcome of this study was the evaluation of the incidence of intraoperative and postoperative adverse events (AEs). The secondary outcomes included the assessment of risk factors for surgery-related AEs and the impact of AEs on survival, length of hospital stay and quality of life. Results Among the 1267 patients analyzed, 6.9% experienced intraoperative AEs and 19.3% experienced at least 1 postoperative AE. Several factors resulted to be associated to the occurrence of postoperative AEs: age, smoking habit, poor Eastern Cooperative Oncology Group (ECOG) Performance status, previous radiation therapy at the index target, duration of surgery, number of instrumented levels, simultaneous anterior and posterior approach, presence of metastases at other sites, multiple spinal metastases. Postoperative AEs were associated with reduced survival rates, increased hospital length of stay and poorer HRQOL outcomes, particularly in domains such as neurological function and mental health. In general, surgery substantially improves HRQOL across multiple domains, with these benefits persisting over time despite the occurrence of AEs. However, patients with preoperative risk factors, including comorbidities, smoking, neurological impairment, and prior radiation therapy, experienced less improvement. Conclusions The negative impact of AEs on overall survival and HRQOL could be associated with the presence of some preoperative parameters of frailty that are detected as risk factors for AEs occurrence. This finding emphasizes the need for personalized preoperative assessments and optimized perioperative care strategies.
New horizons in advancing lifestyle medicine for older adults utilizing a transdisciplinary approach: gaps and opportunities
Lassell, Rebecca , Pritchard, Kevin , Baehr, Laura , Ceïde, Mirnova E. , Jayakody, Oshadi , Lieber, Sarah B. , Loewenthal, Julia , Na, Annalisa , Makris, Una E. , Sherman, Andrea, Wagle, Kamal C. , Andonian, Brian J. , Lassell, Rebecca K F , Sheshadri, Anoop , Makris, Una E , Chatterjee, Sudeshna A, Colón-Semenza, Cristina , Mosher, Christopher L. , Myasoedova, Elena , Wingood, Mariana

Age and Ageing | May 28, 2025 | Volume: 54 | Issue: 6 | Pages: No page available

10.1093/ageing/afaf159 | PMID 40511981 Get It

Abstract Nearly half of premature deaths can be prevented with healthy lifestyle behaviours. However, most older adults do not adhere to established guidelines to promote a healthy lifestyle. We propose a tailored framework of lifestyle medicine that acknowledges the complex contexts and care needs of older adults. The proposed framework of lifestyle medicine for older adults integrates their lived experiences (e.g. social determinants of health, built environment), the 5 M framework of geriatric medicine (i.e. Mind, Mobility, Medications, Multicomplexity, Matters Most) and the six pillars of lifestyle medicine (i.e. nutrition/diet, physical activity/exercise, restorative sleep, stress management, avoidance of risky substances, positive social connections) through a novel transdisciplinary approach. Guided by the updated framework, key gaps and opportunities are presented to advance lifestyle medicine practice, research and policy with the goal of promoting sustained behaviour change and improving the healthspan of older adults.