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journal-article
Schönecker, Sonja;Martinez-Murcia, Francisco J;Denecke, Jannis;Franzmeier, Nicolai;Danek, Adrian;Wagemann, Olivia;Prix, Catharina;Wlasich, Elisabeth;Vöglein, Jonathan;Loosli, Sandra V;Brauer, Anna;Górriz Sáez, Juan-Manuel;Bouzigues, Arabella;Russell, Lucy L;Foster, Phoebe H;Ferry-Bolder, Eve;van Swieten, John C;Jiskoot, Lize C;Seelaar, Harro;Sanchez-Valle, Raquel;Laforce, Robert;Graff, Caroline;Galimberti, Daniela;Vandenberghe, Rik;de Mendonça, Alexandre;Tiraboschi, Pietro;Santana, Isabel;Gerhard, Alexander;Sorbi, Sandro;Otto, Markus;Pasquier, Florence;Ducharme, Simon;Butler, Christopher;Le Ber, Isabelle;Finger, Elizabeth;Tartaglia, Maria Carmela;Masellis, Mario;Rowe, James B;Synofzik, Matthis;Moreno, Fermin;Borroni, Barbara;Rohrer, Jonathan D;Genetic Frontotemporal Dementia Initiative (GENFI), ;Priller, Josef;Höglinger, Günter U;Levin, Johannes; 2024. Frequency and Longitudinal Course of Behavioral and Neuropsychiatric Symptoms in Participants With Genetic Frontotemporal Dementia.. Neurology; 2024; Vol. 103; iss. 8; pp. e209569 - ... keyboard_arrow_downLIRIAS4185285
description
BACKGROUND AND OBJECTIVES: Behavioral and neuropsychiatric symptoms are frequent in patients with genetic frontotemporal dementia (FTD). We aimed to describe behavioral and neuropsychiatric phenotypes in genetic FTD, quantify their temporal association, and investigate their regional association with brain atrophy. METHODS: We analyzed data of pathogenic variant carriers in the chromosome 9 open reading frame 72 (c9orf72), progranulin (GRN), or microtubule-associated protein tau (MAPT) gene from the Genetic Frontotemporal dementia Initiative cohort study that enrolls both symptomatic pathogenic variant carriers and first-degree relatives of known carriers. Principal component analysis was performed to identify behavioral and neuropsychiatric clusters that were compared with respect to frequency and severity between groups. Associations between neuropsychiatric clusters and MRI-assessed atrophy were determined using voxel-based morphometry. We applied linear mixed effects and generalized linear mixed effects models to assess the longitudinal course of symptoms. RESULTS: A total of 522 participants were included: 221 c9orf72 (138 presymptomatic), 213 GRN (157 presymptomatic), and 88 MAPT (62 presymptomatic) pathogenic variant carriers. Principal component analysis revealed 5 phenotypic clusters (67.6% of variance), labeled diverse behavioral, affective, psychotic, euphoric/hypersexual, and tactile hallucinations phenotype. In participants presenting behavioral or neuropsychiatric symptoms, affective symptoms were most frequent across groups (83.6%-88.1%), followed by diverse behavioral symptoms (68.4%-77.9%). In c9orf72 and GRN pathogenic variant carriers, psychotic symptoms (32.0% and 19.4%, respectively) were more frequent than euphoric/hypersexual symptoms (28.7% and 14.2%, respectively), which was the other way around in MAPT pathogenic variant carriers (28.6% and 23.8%). Although diverse behavioral symptoms were associated with gray and white matter frontotemporal atrophy, only a small atrophy cluster in the right thalamus was associated with psychotic symptoms. Euphoric/hypersexual symptoms were associated with atrophy in mesial temporal lobes, basal forebrain structures, and the striatum (p < 0.05). Estimated time to symptom onset, genetic group, education, and sex influenced behavioral and neuropsychiatric symptoms (p < 0.05). Particularly, in c9orf72 pathogenic variant carriers, psychotic symptoms may be starting decades before recognition of onset of illness. DISCUSSION: We identified multiple clusters of behavioral and neuropsychiatric symptoms in participants with genetic FTD that relate to distinct cerebral atrophy patterns. Their severity depends on time, affected gene, sex, and education. These clinical-genetic associations can guide diagnostic evaluations and the design of clinical trials for new disease-modifying and preventive treatments.Published
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journal-article
Solmi, Marco;Thompson, Trevor;Cortese, Samuele;Estradé, Andrés;Agorastos, Agorastos;Radua, Joaquim;Dragioti, Elena;Vancampfort, Davy;Thygesen, Lau Caspar;Aschauer, Harald;Schlögelhofer, Monika;Aschauer, Elena;Schneeberger, Andres;Huber, Christian G;Hasler, Gregor;Conus, Philippe;Cuénod, Kim Q Do;von Känel, Roland;Arrondo, Gonzalo;Fusar-Poli, Paolo;Gorwood, Philip;Llorca, Pierre-Michel;Krebs, Marie-Odile;Scanferla, Elisabetta;Kishimoto, Taishiro;Rabbani, Golam;Skonieczna-Żydecka, Karolina;Brambilla, Paolo;Favaro, Angela;Takamiya, Akihiro;Zoccante, Leonardo;Colizzi, Marco;Bourgin, Julie;Kamiński, Karol;Moghadasin, Maryam;Seedat, Soraya;Matthews, Evan;Wells, John;Vassilopoulou, Emilia;Gadelha, Ary;Su, Kuan-Pin;Kwon, Jun Soo;Kim, Minah;Lee, Tae Young;Papsuev, Oleg;Manková, Denisa;Boscutti, Andrea;Gerunda, Cristiano;Saccon, Diego;Righi, Elena;Monaco, Francesco;Croatto, Giovanni;Cereda, Guido;Demurtas, Jacopo;Brondino, Natascia;Veronese, Nicola;Enrico, Paolo;Politi, Pierluigi;Ciappolino, Valentina;Pfennig, Andrea;Bechdolf, Andreas;Meyer-Lindenberg, Andreas;Kahl, Kai G;Domschke, Katharina;Bauer, Michael;Koutsouleris, Nikolaos;Winter, Sibylle;Borgwardt, Stefan;Bitter, Istvan;Balazs, Judit;Czobor, Pál;Unoka, Zsolt;Mavridis, Dimitris;Tsamakis, Konstantinos;Bozikas, Vasilios P;Tunvirachaisakul, Chavit;Maes, Michael;Rungnirundorn, Teerayuth;Supasitthumrong, Thitiporn;Haque, Ariful;Brunoni, Andre R;Costardi, Carlos Gustavo;Schuch, Felipe Barreto;Polanczyk, Guilherme;Luiz, Jhoanne Merlyn;Fonseca, Lais;Aparicio, Luana V;Valvassori, Samira S;Nordentoft, Merete;Vendsborg, Per;Hoffmann, Sofie Have;Sehli, Jihed;Sartorius, Norman;Heuss, Sabina;Guinart, Daniel;Hamilton, Jane;Kane, John;Rubio, Jose;Sand, Michael;Koyanagi, Ai;Solanes, Aleix;Andreu-Bernabeu, Alvaro;Cáceres, Antonia San José;Arango, Celso;Díaz-Caneja, Covadonga M;Hidalgo-Mazzei, Diego;Vieta, Eduard;Gonzalez-Peñas, Javier;Fortea, Lydia;Parellada, Mara;Fullana, Miquel A;Verdolini, Norma;Andrlíková, Eva;Janků, Karolina;Millan, Mark J;Honciuc, Mihaela;Moniuszko-Malinowska, Anna;Łoniewski, Igor;Samochowiec, Jerzy;Kiszkiel, Łukasz;Marlicz, Maria;Sowa, Paweł;Marlicz, Wojciech;Spies, Georgina;Stubbs, Brendon;Firth, Joseph;Sullivan, Sarah;Darcin, Asli Enez;Aksu, Hatice;Dilbaz, Nesrin;Noyan, Onur;Kitazawa, Momoko;Kurokawa, Shunya;Tazawa, Yuki;Anselmi, Alejandro;Cracco, Cecilia;Machado, Ana Inés;Estrade, Natalia;De Leo, Diego;Curtis, Jackie;Berk, Michael;Carvalho, Andre F;Ward, Philip;Teasdale, Scott;Rosenbaum, Simon;Marx, Wolfgang;Horodnic, Adrian Vasile;Oprea, Liviu;Alexinschi, Ovidiu;Ifteni, Petru;Turliuc, Serban;Ciuhodaru, Tudor;Bolos, Alexandra;Matei, Valentin;Nieman, Dorien H;Sommer, Iris;van Os, Jim;van Amelsvoort, Therese;Sun, Ching-Fang;Guu, Ta-Wei;Jiao, Can;Zhang, Jieting;Fan, Jialin;Zou, Liye;Yu, Xin;Chi, Xinli;de Timary, Philippe;van Winkel, Ruud;Ng, Bernardo;Peña de León, Edilberto;Arellano, Ramon;Roman, Raquel;Sanchez, Thelma;Movina, Larisa;Morgado, Pedro;Brissos, Sofia;Aizberg, Oleg;Mosina, Anna;Krinitski, Damir;Mugisha, James;Sadeghi-Bahmani, Dena;Sheybani, Farshad;Sadeghi, Masoud;Hadi, Samira;Brand, Serge;Errazuriz, Antonia;Crossley, Nicolas;Ristic, Dragana Ignjatovic;López-Jaramillo, Carlos;Efthymiou, Dimitris;Kuttichira, Praveenlal;Kallivayalil, Roy Abraham;Javed, Afzal;Afridi, Muhammad Iqbal;James, Bawo;Seb-Akahomen, Omonefe Joy;Fiedorowicz, Jess;Daskalakis, Jeff;Yatham, Lakshmi N;Yang, Lin;Okasha, Tarek;Dahdouh, Aïcha;Tiihonen, Jari;Shin, Jae Il;Lee, Jinhee;Mhalla, Ahmed;Gaha, Lotfi;Brahim, Takoua;Altynbekov, Kuanysh;Negay, Nikolay;Nurmagambetova, Saltanat;Jamei, Yasser Abu;Weiser, Mark;Correll, Christoph U; 2024. Collaborative outcomes study on health and functioning during infection times (COH-FIT): Insights on modifiable and non-modifiable risk and protective factors for wellbeing and mental health during the COVID-19 pandemic from multivariable and network analyses.. Eur Neuropsychopharmacol; 2024; Vol. 90; pp. 1 - 15 keyboard_arrow_downLIRIAS4187504
description
There is no multi-country/multi-language study testing a-priori multivariable associations between non-modifiable/modifiable factors and validated wellbeing/multidimensional mental health outcomes before/during the COVID-19 pandemic. Moreover, studies during COVID-19 pandemic generally do not report on representative/weighted non-probability samples. The Collaborative Outcomes study on Health and Functioning during Infection Times (COH-FIT) is a multi-country/multi-language survey conducting multivariable/LASSO-regularized regression models and network analyses to identify modifiable/non-modifiable factors associated with wellbeing (WHO-5)/composite psychopathology (P-score) change. It enrolled general population-representative/weighted-non-probability samples (26/04/2020-19/06/2022). Participants included 121,066 adults (age=42±15.9 years, females=64 %, representative sample=29 %) WHO-5/P-score worsened (SMD=0.53/SMD=0.74), especially initially during the pandemic. We identified 15 modifiable/nine non-modifiable risk and 13 modifiable/three non-modifiable protective factors for WHO-5, 16 modifiable/11 non-modifiable risk and 10 modifiable/six non-modifiable protective factors for P-score. The 12 shared risk/protective factors with highest centrality (network-analysis) were, for non-modifiable factors, country income, ethnicity, age, gender, education, mental disorder history, COVID-19-related restrictions, urbanicity, physical disorder history, household room numbers and green space, and socioeconomic status. For modifiable factors, we identified medications, learning, internet, pet-ownership, working and religion as coping strategies, plus pre-pandemic levels of stress, fear, TV, social media or reading time, and COVID-19 information. In multivariable models, for WHO-5, additional non-modifiable factors with |B|>1 were income loss, COVID-19 deaths. For modifiable factors we identified pre-pandemic levels of social functioning, hobbies, frustration and loneliness, and social interactions as coping strategy. For P-scores, additional non-modifiable/modifiable factors were income loss, pre-pandemic infection fear, and social interactions as coping strategy. COH-FIT identified vulnerable sub-populations and actionable individual/environmental factors to protect well-being/mental health during crisis times. Results inform public health policies, and clinical practice.Published online
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journal-article
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description
Progress in genetic diagnosis and orphan drug legislation has opened doors to new therapies in rare neurogenetic diseases (RNDs). Innovative therapies such as gene therapy can improve patients' quality of life but come with academic, regulatory, and financial challenges. Registries can play a pivotal role in generating evidence to tackle these, but their development requires multidisciplinary knowledge and expertise. This study aims to develop a practical framework for creating and implementing patient registries addressing common challenges and maximizing their impact on care, research, drug development, and regulatory decision making with a focus on RNDs. A comprehensive 3-step literature and qualitative research approach was used to develop the framework. A qualitative systematic literature review was conducted, extracting guidance and practices leading to the draft framework. Subsequently, we interviewed representatives of 5 established international RND registries to add learnings from hands-on experiences to the framework. Expert input on the draft framework was sought in digital multistakeholder focus groups to refine the framework. The literature search; interviews with 5 registries; and focus groups with patient representatives (n = 4), clinicians (n = 6), regulators, health technology assessment (HTA) bodies and payers (n = 7), industry representatives (n = 7), and data/information technology (IT) specialists (n = 5) informed development of the framework. It covers the interests of different stakeholders, purposes for data utilization, data aspects, IT infrastructure, governance, and financing of rare disease registries. Key principles include that data should be rapidly accessible, independent, and trustworthy. Governance should involve multiple stakeholders. In addition, data should be highly descriptive, machine-readable, and accessible through a shared infrastructure and not spread over multiple isolated repositories. Sustainable and independent financing of registries is deemed important but remains challenging because of a lack of widely supported funding models. The proposed framework will guide stakeholders in establishing or improving rare disease registries that fulfill requirements of academics and patients as well as regulators, HTA bodies, and commercial parties. There is a need for more clarity regarding quality requirements for registries in regulatory and HTA context. In addition, independent financing models for registries should be developed, as well as well-defined policies on technical uniformity in health data.
Publisher: American Academy of Neurology
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journal-article
Solmi, Marco;Miola, Alessandro;Capone, Federico;Pallottino, Simone;Højlund, Mikkel;Firth, Joseph;Siskind, Dan;Holt, Richard IG;Corbeil, Olivier;Cortese, Samuele;Dragioti, Elena;Du Rietz, Ebba;Nielsen, René Ernst;Nordentoft, Merete;Fusar-Poli, Paolo;Hartman, Catharina A;Høye, Anne;Koyanagi, Ai;Larsson, Henrik;Lehto, Kelli;Lindgren, Peter;Manchia, Mirko;Skonieczna-Żydecka, Karolina;Stubbs, Brendon;Vancampfort, Davy;Vieta, Eduard;Taipale, Heidi;Correll, Christoph U; 2024. Risk factors, prevention and treatment of weight gain associated with the use of antidepressants and antipsychotics: a state-of-the-art clinical review.. Expert Opin Drug Saf; 2024; pp. 1 - 21 keyboard_arrow_downLIRIAS4180813
description
INTRODUCTION: People with severe mental illness have poor cardiometabolic health. Commonly used antidepressants and antipsychotics frequently lead to weight gain, which may further contribute to adverse cardiovascular outcomes. AREAS COVERED: We searched MEDLINE up to April 2023 for umbrella reviews, (network-)meta-analyses, trials and cohort studies on risk factors, prevention and treatment strategies of weight gain associated with antidepressants/antipsychotics. We developed 10 clinical recommendations. EXPERT OPINION: To prevent, manage, and treat antidepressant/antipsychotic-related weight gain, we recommend i) assessing risk factors for obesity before treatment, ii) monitoring metabolic health at baseline and regularly during follow-up, iii) offering lifestyle interventions including regular exercise and healthy diet based on patient preference to optimize motivation, iv) considering first-line psychotherapy for mild-moderate depression and anxiety disorders, v)choosing medications based on medications' and patient's weight gain risk, vi) choosing medications based on acute vs long-term treatment, vii) using effective, tolerated medications, viii) switching to less weight-inducing antipsychotics/antidepressants where possible, ix) using early weight gain as a predictor of further weight gain to inform the timing of intervention/switch options, and x) considering adding metformin or glucagon-like peptide-1 receptor agonists, or topiramate(second-line due to potential adverse cognitive effects) to antipsychotics, or aripiprazole to clozapine or olanzapine.Published online
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Nederlof, Iris;Isaeva, Olga I;de Graaf, Manon;Gielen, Robbert CAM;Bakker, Noor AM;Rolfes, Adrianne L;Garner, Hannah;Boeckx, Bram;Traets, Joleen JH;Mandjes, Ingrid AM;de Maaker, Michiel;van Brussel, Thomas;Chelushkin, Maksim;Champanhet, Elisa;Lopez-Yurda, Marta;van de Vijver, Koen;van den Berg, José G;Hofland, Ingrid;Klioueva, Natasja;Mann, Ritse M;Loo, Claudette E;van Duijnhoven, Frederieke H;Skinner, Victoria;Luykx, Sylvia;Kerver, Emile;Kalashnikova, Ekaterina;van Dongen, Marloes GJ;Sonke, Gabe S;Linn, Sabine C;Blank, Christian U;de Visser, Karin E;Salgado, Roberto;Wessels, Lodewyk FA;Drukker, Caroline A;Schumacher, Ton N;Horlings, Hugo M;Lambrechts, Diether;Kok, Marleen; 2024. Neoadjuvant nivolumab or nivolumab plus ipilimumab in early-stage triple-negative breast cancer: a phase 2 adaptive trial.. Nat Med; 2024 keyboard_arrow_downLIRIAS4186351
description
Immune checkpoint inhibition (ICI) with chemotherapy is now the standard of care for stage II-III triple-negative breast cancer; however, it is largely unknown for which patients ICI without chemotherapy could be an option and what the benefit of combination ICI could be. The adaptive BELLINI trial explored whether short combination ICI induces immune activation (primary end point, twofold increase in CD8+ T cells or IFNG), providing a rationale for neoadjuvant ICI without chemotherapy. Here, in window-of-opportunity cohorts A (4 weeks of anti-PD-1) and B (4 weeks of anti-PD-1 + anti-CTLA4), we observed immune activation in 53% (8 of 15) and 60% (9 of 15) of patients, respectively. High levels of tumor-infiltrating lymphocytes correlated with response. Single-cell RNA sequencing revealed that higher pretreatment tumor-reactive CD8+ T cells, follicular helper T cells and shorter distances between tumor and CD8+ T cells correlated with response. Higher levels of regulatory T cells after treatment were associated with nonresponse. Based on these data, we opened cohort C for patients with high levels of tumor-infiltrating lymphocytes (≥50%) who received 6 weeks of neoadjuvant anti-PD-1 + anti-CTLA4 followed by surgery (primary end point, pathological complete response). Overall, 53% (8 of 15) of patients had a major pathological response (<10% viable tumor) at resection, with 33% (5 of 15) having a pathological complete response. All cohorts met Simon's two-stage threshold for expansion to stage II. We observed grade ≥3 adverse events for 17% of patients and a high rate (57%) of immune-mediated endocrinopathies. In conclusion, neoadjuvant immunotherapy without chemotherapy demonstrates potential efficacy and warrants further investigation in patients with early triple-negative breast cancer. ClinicalTrials.gov registration: NCT03815890 .Published online
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Harbeck, Nadia;Ciruelos, Eva;Jerusalem, Guy;Müller, Volkmar;Niikura, Naoki;Viale, Giuseppe;Bartsch, Rupert;Kurzeder, Christian;Higgins, Michaela J;Connolly, Roisin M;Baron-Hay, Sally;Gión, María;Guarneri, Valentina;Bianchini, Giampaolo;Wildiers, Hans;Escrivá-de-Romaní, Santiago;Prahladan, Manoj;Bridge, Helen;Kuptsova-Clarkson, Nataliya;Scotto, Nana;Verma, Sunil;Lin, Nancy U;DESTINY-Breast12 study group, ; 2024. Trastuzumab deruxtecan in HER2-positive advanced breast cancer with or without brain metastases: a phase 3b/4 trial.. Nat Med; 2024 keyboard_arrow_downLIRIAS4186237
description
Trastuzumab deruxtecan (T-DXd) intracranial activity has been observed in small or retrospective patient cohorts with human epidermal growth factor receptor 2-positive (HER2+) advanced/metastatic breast cancer (mBC) and stable or active (untreated/previously treated and progressing) brain metastases (BMs). The phase 3b/4 DESTINY-Breast12 study investigated T-DXd in patients with HER2+ mBC and is, to our knowledge, the largest prospective study of T-DXd in patients with BMs in this setting. Patients (stable/active BMs (n = 263) and no BMs (n = 241)) treated with one or more prior anti-HER2-based regimens received T-DXd (5.4 mg per kg). Primary endpoints were progression-free survival (PFS; BMs cohort) and objective response rate (ORR) per Response Evaluation Criteria in Solid Tumors version 1.1 (non-BMs cohort). Additional endpoints included central nervous system (CNS) PFS, ORR, time to second progression, CNS ORR (BMs cohort), incidence of new symptomatic CNS metastases (non-BMs cohort), time to progression, duration of response, overall survival and safety (both cohorts). No formal hypothesis testing was conducted for this single-arm, open-label study. In the BMs cohort, 12-month PFS was 61.6% (95% confidence interval (CI): 54.9-67.6), and 12-month CNS PFS was 58.9% (95% CI: 51.9-65.3). In the non-BMs cohort, ORR was 62.7% (95% CI: 56.5-68.8). Grade 3 or higher adverse events occurred in 51% (BMs cohort) and 49% (non-BMs cohort) of patients. Investigator-reported interstitial lung disease/pneumonitis occurred in 16% (grade ≥3: 3%) of patients with BMs and 13% (grade ≥3: 1%) of patients without BMs. These data show substantial and durable overall and intracranial activity for T-DXd, supporting its use in previously treated patients with HER2+ mBC irrespective of stable/active baseline BMs. ClinicalTrials.gov identifier: NCT04739761 .Published online
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Nussbaumer, Gunther;Benesch, Martin;Grabovska, Yura;Mackay, Alan;Castel, David;Grill, Jacques;Alonso, Marta M;Antonelli, Manila;Bailey, Simon;Baugh, Joshua N;Biassoni, Veronica;Blattner-Johnson, Mirjam;Broniscer, Alberto;Carai, Andrea;Colafati, Giovanna Stefania;Colditz, Niclas;Corbacioglu, Selim;Crampsie, Shauna;Entz-Werle, Natacha;Eyrich, Matthias;Friker, Lea L;Frühwald, Michael C;Garrè, Maria Luisa;Gerber, Nicolas U;Giangaspero, Felice;Gil-da-Costa, Maria J;Graf, Norbert;Hargrave, Darren;Hauser, Peter;Herrlinger, Ulrich;Hoffmann, Marion;Hulleman, Esther;Izquierdo, Elisa;Jacobs, Sandra;Karremann, Michael;Kattamis, Antonis;Kebudi, Rejin;Kortmann, Rolf-Dieter;Kwiecien, Robert;Massimino, Maura;Mastronuzzi, Angela;Miele, Evelina;Morana, Giovanni;Noack, Claudia M;Pentikainen, Virve;Perwein, Thomas;Pfister, Stefan M;Pietsch, Torsten;Roka, Kleoniki;Rossi, Sabrina;Rutkowski, Stefan;Schiavello, Elisabetta;Seidel, Clemens;Štěrba, Jaroslav;Sturm, Dominik;Sumerauer, David;Tacke, Anna;Temelso, Sara;Valentini, Chiara;van Vuurden, Dannis;Varlet, Pascale;Veldhuijzen van Zanten, Sophie EM;Vinci, Maria;von Bueren, André O;Warmuth-Metz, Monika;Wesseling, Pieter;Wiese, Maria;Wolff, Johannes EA;Zamecnik, Josef;Morales La Madrid, Andrés;Bison, Brigitte;Gielen, Gerrit H;Jones, David TW;Jones, Chris;Kramm, Christof M; 2024. Gliomatosis cerebri in children: A poor prognostic phenotype of diffuse gliomas with a distinct molecular profile.. Neuro Oncol; 2024; Vol. 26; iss. 9; pp. 1723 - 1737 keyboard_arrow_downLIRIAS4158134
description
BACKGROUND: The term gliomatosis cerebri (GC), a radiology-defined highly infiltrating diffuse glioma, has been abandoned since molecular GC-associated features could not be established. METHODS: We conducted a multinational retrospective study of 104 children and adolescents with GC providing comprehensive clinical and (epi-)genetic characterization. RESULTS: Median overall survival (OS) was 15.5 months (interquartile range, 10.9-27.7) with a 2-year survival rate of 28%. Histopathological grading correlated significantly with median OS: CNS WHO grade II: 47.8 months (25.2-55.7); grade III: 15.9 months (11.4-26.3); grade IV: 10.4 months (8.8-14.4). By DNA methylation profiling (n = 49), most tumors were classified as pediatric-type diffuse high-grade glioma (pedHGG), H3-/IDH-wild-type (n = 31/49, 63.3%) with enriched subclasses pedHGG_RTK2 (n = 19), pedHGG_A/B (n = 6), and pedHGG_MYCN (n = 5), but only one pedHGG_RTK1 case. Within the pedHGG, H3-/IDH-wild-type subgroup, recurrent alterations in EGFR (n = 10) and BCOR (n = 9) were identified. Additionally, we observed structural aberrations in chromosome 6 in 16/49 tumors (32.7%) across tumor types. In the pedHGG, H3-/IDH-wild-type subgroup TP53 alterations had a significant negative effect on OS. CONCLUSIONS: Contrary to previous studies, our representative pediatric GC study provides evidence that GC has a strong predilection to arise on the background of specific molecular features (especially pedHGG_RTK2, pedHGG_A/B, EGFR and BCOR mutations, chromosome 6 rearrangements).Published
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Ahuja, K;Vandenabeele, M;Nami, F;Lefevere, E;Van Hoecke, J;Bergmans, S;Claes, M;Vervliet, T;Neyrinck, K;Burg, T;De Herdt, D;Bhaskar, P;Zhu, Y;Looser, ZJ;Loncke, J;Gsell, W;Plaas, M;Agostinis, P;Swinnen, JV;van den Bosch, L;Bultynck, G;Saab, AS;Wolfs, E;Chai, YC;Himmelreich, U;Verfaillie, C;Moons, L;De Groef, L; 2024. A deep phenotyping study in mouse and iPSC models to understand the role of oligodendroglia in optic neuropathy in Wolfram syndrome. Acta Neuropathologica Communications; 2024; Vol. 12; iss. 1 keyboard_arrow_downLIRIAS4149012
description
Wolfram syndrome (WS) is a rare childhood disease characterized by diabetes mellitus, diabetes insipidus, blindness, deafness, neurodegeneration and eventually early death, due to autosomal recessive mutations in the WFS1 (and WFS2) gene. While it is categorized as a neurodegenerative disease, it is increasingly becoming clear that other cell types besides neurons may be affected and contribute to the pathogenesis. MRI studies in patients and phenotyping studies in WS rodent models indicate white matter/myelin loss, implicating a role for oligodendroglia in WS-associated neurodegeneration. In this study, we sought to determine if oligodendroglia are affected in WS and whether their dysfunction may be the primary cause of the observed optic neuropathy and brain neurodegeneration. We demonstrate that 7.5-month-old Wfs1∆exon8 mice display signs of abnormal myelination and a reduced number of oligodendrocyte precursor cells (OPCs) as well as abnormal axonal conduction in the optic nerve. An MRI study of the brain furthermore revealed grey and white matter loss in the cerebellum, brainstem, and superior colliculus, as is seen in WS patients. To further dissect the role of oligodendroglia in WS, we performed a transcriptomics study of WS patient iPSC-derived OPCs and pre-myelinating oligodendrocytes. Transcriptional changes compared to isogenic control cells were found for genes with a role in ER function. However, a deep phenotyping study of these WS patient iPSC-derived oligodendroglia unveiled normal differentiation, mitochondria-associated endoplasmic reticulum (ER) membrane interactions and mitochondrial function, and no overt signs of ER stress. Overall, the current study indicates that oligodendroglia functions are largely preserved in the WS mouse and patient iPSC-derived models used in this study. These findings do not support a major defect in oligodendroglia function as the primary cause of WS, and warrant further investigation of neurons and neuron-oligodendroglia interactions as a target for future neuroprotective or -restorative treatments for WS.
Publisher: Springer Nature
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Leenen, Renée CA;Venderbos, Lionne DF;Helleman, Jozien;Gómez Rivas, Juan;Vynckier, Pieter;Annemans, Lieven;Chloupková, Renata;Májek, Ondřej;Briers, Erik;Vasilyeva, Vera;Remmers, Sebastiaan;van Harten, Meike J;Denijs, Frederique B;de Vos, Ivo I;Chandran, Arunah;Basu, Partha;van den Bergh, Roderick CN;Collen, Sarah;Van Poppel, Hein;Roobol, Monique J;Beyer, Katharina;PRAISE-U Consortium, ; 2024. Prostate Cancer Early Detection in the European Union and UK.. Eur Urol; 2024; pp. S0302-2838(24)02502-8 - ... keyboard_arrow_downLIRIAS4178683
description
BACKGROUND AND OBJECTIVE: While prostate cancer (PCa) incidence and mortality rates continue to rise, early detection of PCa remains highly controversial, and the research landscape is rapidly evolving. Existing systematic reviews (SRs) and meta-analyses (MAs) provide valuable insights, but often focus on single aspects of early detection, hindering a comprehensive understanding of the topic. We aim to fill this gap by providing a comprehensive SR of contemporary SRs covering different aspects of early detection of PCa in the European Union (EU) and the UK. METHODS: On June 1, 2023, we searched four databases (Medline ALL via Ovid, Embase, Web of Science, and Cochrane Central Register of Controlled Trials) and Google Scholar. To avoid repetition of previous studies, only SRs (qualitative, quantitative, and/or MAs) were considered eligible. In the data, common themes were identified to present the evidence systematically. KEY FINDINGS AND LIMITATIONS: We identified 1358 citations, resulting in 26 SRs eligible for inclusion. Six themes were identified: (1) invitation: men at general risk should be invited at >50yr of age, and testing should be discontinued at >70yr or with <10yr of life expectancy; (2) decision-making: most health authorities discourage population-based screening and instead recommend a shared decision-making (SDM) approach, but implementation of SDM in clinical practice varies widely; decision aids help men make more informed and value-consistent screening decisions and decrease men's intention to attempt screening, but these do not affect screening uptake; (3) acceptance: facilitators for men considering screening include social prompting by partners and clinician recommendations, while barriers include a lack of knowledge, low-risk perception, and masculinity attributes; (4) screening test and algorithm: prostate-specific antigen-based screening reduces PCa-specific mortality and metastatic disease in men aged 55-69yr at randomisation if screened at least twice; (5) harms and benefits: these benefits come at the cost of unnecessary biopsies, overdiagnosis, and subsequent overtreatment; and (6) future of screening: risk-adapted screening including (prebiopsy) risk calculators, magnetic resonance imaging, and blood- and urine-based biomarkers could reduce these harms. To enable a comprehensive overview, we focused on SRs. These do not include the most recent prospective studies, which were therefore incorporated in the discussion. CONCLUSIONS AND CLINICAL IMPLICATIONS: By identifying consistent and conflicting evidence, this review highlights the evidence-based foundations that can be built upon, as well as areas requiring further research and improvement to reduce the burden of PCa in the EU and UK. PATIENT SUMMARY: This review of 26 reviews covers various aspects of prostate cancer screening such as invitation, decision-making, screening tests, harms, and benefits. This review provides insights into existing evidence, highlighting the areas of consensus and discrepancies, to guide future research and improve prostate cancer screening strategies in Europe.Published online
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Bertagnolio, Silvia;Dobreva, Zlatina;Centner, Chad M;Olaru, Ioana Diana;Donà, Daniele;Burzo, Stefano;Huttner, Benedikt D;Chaillon, Antoine;Gebreselassie, Nebiat;Wi, Teodora;Hasso-Agopsowicz, Mateusz;Allegranzi, Benedetta;Sati, Hatim;Ivanovska, Verica;Kothari, Kavita U;Balkhy, Hanan H;Cassini, Alessandro;Hamers, Raph L;Weezenbeek, Kitty Van;WHO Research Agenda for AMR in Human Health Collaborators, ; 2024. WHO global research priorities for antimicrobial resistance in human health.. Lancet Microbe; 2024; pp. 100902 - ... keyboard_arrow_downLIRIAS4185432
description
The WHO research agenda for antimicrobial resistance (AMR) in human health has identified 40research priorities to be addressed by the year 2030. These priorities focus on bacterial and fungal pathogens of crucial importance in addressing AMR, including drug-resistant pathogens causing tuberculosis. These research priorities encompass the entire people-centred journey, covering prevention, diagnosis, and treatment of antimicrobial-resistant infections, in addition to addressing the overarching knowledge gaps in AMR epidemiology, burden and drivers, policies and regulations, and awareness and education. The research priorities were identified through a multistage process, starting with a comprehensive scoping review of knowledge gaps, with expert inputs gathered through a survey and open call. The priority setting involved a rigorous modified Child Health and Nutrition Research Initiative approach, ensuring global representation and applicability of the findings. The ultimate goal of this research agenda is to encourage research and investment in the generation of evidence to better understand AMR dynamics and facilitate policy translation for reducing the burden and consequences of AMR.Published online
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Solmi, Marco;Croatto, Giovanni;Gupta, Arnav;Fabiano, Nicholas;Wong, Stanley;Fornaro, Michele;Schneider, Lynne Kolton;Rohani-Montez, S Christy;Fairley, Leanne;Smith, Nathalie;Bitter, István;Gorwood, Philip;Taipale, Heidi;Tiihonen, Jari;Cortese, Samuele;Dragioti, Elena;Rietz, Ebba Du;Nielsen, Rene Ernst;Firth, Joseph;Fusar-Poli, Paolo;Hartman, Catharina;Holt, Richard IG;Høye, Anne;Koyanagi, Ai;Larsson, Henrik;Lehto, Kelli;Lindgren, Peter;Manchia, Mirko;Nordentoft, Merete;Skonieczna-Żydecka, Karolina;Stubbs, Brendon;Vancampfort, Davy;De Prisco, Michele;Boyer, Laurent;Vieta, Eduard;Correll, Christoph U;ECNP Physical And meNtal Health Thematic Working Group (PAN-Health), ; 2024. Effects of antipsychotic treatment on cardio-cerebrovascular related mortality in schizophrenia: A subanalysis of a systematic review and meta-analysis with meta-regression of moderators.. Eur Neuropsychopharmacol; 2024; Vol. 88; pp. 6 - 20 keyboard_arrow_downLIRIAS4176395
description
To further explore the role of different antipsychotic treatments for cardio-cerebrovascular mortality, we performed several subgroup, sensitivity and meta-regression analyses based on a large previous meta-analysis focusing on cohort studies assessing mortality relative risk (RR) for cardio-cerebrovascular disorders in people with schizophrenia, comparing antipsychotic treatment versus no antipsychotic. Quality assessment through the Newcastle-Ottawa Scale (NOS) and publication bias was measured. We meta-analyzed 53 different studies (schizophrenia patients: n = 2,513,359; controls: n = 360,504,484) to highlight the differential effects of antipsychotic treatment regimens on cardio-cerebrovascular-related mortality in incident and prevalent samples of patients with schizophrenia. We found first generation antipsychotics (FGA) to be associated with higher mortality in incident samples of schizophrenia (oral FGA [RR=2.20, 95 %CI=1.29-3.77, k = 1] and any FGA [RR=1.70, 95 %CI=1.20-2.41, k = 1]). Conversely, second generation antipsychotics (SGAs) and clozapine were associated with reduced cardio-cerebrovascular-related mortality, in prevalent samples of schizophrenia. Subgroup analyses with NOS score ≥7 (higher quality) demonstrated a significantly increased cardio-cerebrovascular disorder-related mortality, among those exposed to FGAs vs SGAs. Meta-regression analyses demonstrated a larger association between antipsychotics and decreased risk of mortality with longer follow-up, recent study year, and higher number of adjustment variables. Overall, this subanalysis of a systematic review contributes to the evolving understanding of the complex role of antipsychotic treatment for cardio-cerebrovascular mortality in schizophrenia, paving the way for more targeted interventions and improved patient outcomes.Published online
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Kentistou, Katherine A;Kaisinger, Lena R;Stankovic, Stasa;Vaudel, Marc;Mendes de Oliveira, Edson;Messina, Andrea;Walters, Robin G;Liu, Xiaoxi;Busch, Alexander S;Helgason, Hannes;Thompson, Deborah J;Santoni, Federico;Petricek, Konstantin M;Zouaghi, Yassine;Huang-Doran, Isabel;Gudbjartsson, Daniel F;Bratland, Eirik;Lin, Kuang;Gardner, Eugene J;Zhao, Yajie;Jia, Raina Y;Terao, Chikashi;Riggan, Marjorie J;Bolla, Manjeet K;Yazdanpanah, Mojgan;Yazdanpanah, Nahid;Bradfield, Jonathan P;Broer, Linda;Campbell, Archie;Chasman, Daniel I;Cousminer, Diana L;Franceschini, Nora;Franke, Lude H;Girotto, Giorgia;He, Chunyan;Järvelin, Marjo-Riitta;Joshi, Peter K;Kamatani, Yoichiro;Karlsson, Robert;Luan, Jian'an;Lunetta, Kathryn L;Mägi, Reedik;Mangino, Massimo;Medland, Sarah E;Meisinger, Christa;Noordam, Raymond;Nutile, Teresa;Concas, Maria Pina;Polašek, Ozren;Porcu, Eleonora;Ring, Susan M;Sala, Cinzia;Smith, Albert V;Tanaka, Toshiko;van der Most, Peter J;Vitart, Veronique;Wang, Carol A;Willemsen, Gonneke;Zygmunt, Marek;Ahearn, Thomas U;Andrulis, Irene L;Anton-Culver, Hoda;Antoniou, Antonis C;Auer, Paul L;Barnes, Catriona LK;Beckmann, Matthias W;Berrington de Gonzalez, Amy;Bogdanova, Natalia V;Bojesen, Stig E;Brenner, Hermann;Buring, Julie E;Canzian, Federico;Chang-Claude, Jenny;Couch, Fergus J;Cox, Angela;Crisponi, Laura;Czene, Kamila;Daly, Mary B;Demerath, Ellen W;Dennis, Joe;Devilee, Peter;De Vivo, Immaculata;Dörk, Thilo;Dunning, Alison M;Dwek, Miriam;Eriksson, Johan G;Fasching, Peter A;Fernandez-Rhodes, Lindsay;Ferreli, Liana;Fletcher, Olivia;Gago-Dominguez, Manuela;García-Closas, Montserrat;García-Sáenz, José A;González-Neira, Anna;Grallert, Harald;Guénel, Pascal;Haiman, Christopher A;Hall, Per;Hamann, Ute;Hakonarson, Hakon;Hart, Roger J;Hickey, Martha;Hooning, Maartje J;Hoppe, Reiner;Hopper, John L;Hottenga, Jouke-Jan;Hu, Frank B;Huebner, Hanna;Hunter, David J;ABCTB Investigators, ;Jernström, Helena;John, Esther M;Karasik, David;Khusnutdinova, Elza K;Kristensen, Vessela N;Lacey, James V;Lambrechts, Diether;Launer, Lenore J;Lind, Penelope A;Lindblom, Annika;Magnusson, Patrik KE;Mannermaa, Arto;McCarthy, Mark I;Meitinger, Thomas;Menni, Cristina;Michailidou, Kyriaki;Millwood, Iona Y;Milne, Roger L;Montgomery, Grant W;Nevanlinna, Heli;Nolte, Ilja M;Nyholt, Dale R;Obi, Nadia;O'Brien, Katie M;Offit, Kenneth;Oldehinkel, Albertine J;Ostrowski, Sisse R;Palotie, Aarno;Pedersen, Ole B;Peters, Annette;Pianigiani, Giulia;Plaseska-Karanfilska, Dijana;Pouta, Anneli;Pozarickij, Alfred;Radice, Paolo;Rennert, Gad;Rosendaal, Frits R;Ruggiero, Daniela;Saloustros, Emmanouil;Sandler, Dale P;Schipf, Sabine;Schmidt, Carsten O;Schmidt, Marjanka K;Small, Kerrin;Spedicati, Beatrice;Stampfer, Meir;Stone, Jennifer;Tamimi, Rulla M;Teras, Lauren R;Tikkanen, Emmi;Turman, Constance;Vachon, Celine M;Wang, Qin;Winqvist, Robert;Wolk, Alicja;Zemel, Babette S;Zheng, Wei;van Dijk, Ko W;Alizadeh, Behrooz Z;Bandinelli, Stefania;Boerwinkle, Eric;Boomsma, Dorret I;Ciullo, Marina;Chenevix-Trench, Georgia;Cucca, Francesco;Esko, Tõnu;Gieger, Christian;Grant, Struan FA;Gudnason, Vilmundur;Hayward, Caroline;Kolčić, Ivana;Kraft, Peter;Lawlor, Deborah A;Martin, Nicholas G;Nøhr, Ellen A;Pedersen, Nancy L;Pennell, Craig E;Ridker, Paul M;Robino, Antonietta;Snieder, Harold;Sovio, Ulla;Spector, Tim D;Stöckl, Doris;Sudlow, Cathie;Timpson, Nic J;Toniolo, Daniela;Uitterlinden, André;Ulivi, Sheila;Völzke, Henry;Wareham, Nicholas J;Widen, Elisabeth;Wilson, James F;Lifelines Cohort Study, ;Danish Blood Donor Study, ;Ovarian Cancer Association Consortium, ;Breast Cancer Association Consortium, ;Biobank Japan Project, ;China Kadoorie Biobank Collaborative Group, ;Pharoah, Paul DP;Li, Liming;Easton, Douglas F;Njølstad, Pål R;Sulem, Patrick;Murabito, Joanne M;Murray, Anna;Manousaki, Despoina;Juul, Anders;Erikstrup, Christian;Stefansson, Kari;Horikoshi, Momoko;Chen, Zhengming;Farooqi, I Sadaf;Pitteloud, Nelly;Johansson, Stefan;Day, Felix R;Perry, John RB;Ong, Ken K; 2024. Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum.. Nat Genet; 2024; Vol. 56; iss. 8; pp. 1763 - 1764LIRIAS4167069
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LIRIAS4151490
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BACKGROUND & AIMS: Brain-gut behavior therapies (BGBT) are increasingly recognized as effective therapeutic interventions for functional heartburn. However, recommendations regarding candidacy for treatment, initial treatment selection, and navigating treatment non-response have not been established for functional heartburn specifically. The aim of this study was to establish expert-based recommendations for behavioral treatment in patients with functional heartburn. METHODS: The validated RAND/University of California, Los Angeles Appropriateness Method was applied to develop recommendations. A 15-member panel composed of 10 gastrointestinal psychologists and 5 esophageal specialists ranked the appropriateness of a series of statements on a 9-point interval scale over 2 ranking periods. Statements were within the following domains: pre-therapy evaluation, candidacy criteria for BGBT, selection of initial BGBT, role of additional therapy for initial non-response to BGBT, and role of pharmacologic neuromodulation. The primary outcome was appropriateness of each intervention based on the recommendation statements. RESULTS: Recommendations for psychosocial assessment (eg, hypervigilance, symptom-specific anxiety, health-related quality of life), candidacy criteria (eg, motivated for BGBT, acknowledges the role of stress in symptoms), and treatment were established. Gut-directed hypnotherapy or cognitive behavioral therapy were considered appropriate BGBT for functional heartburn. Neuromodulation and/or additional BGBT were considered appropriate in the context of non-response. CONCLUSIONS: Gut-directed hypnotherapy and/or cognitive behavioral therapy are recommended as appropriate behavioral interventions for heartburn symptoms, depending on clinical indication, specific gut-brain targets, and preferred treatment modality (pharmacologic vs non-pharmacologic). Pre-therapy evaluation of psychosocial processes and candidacy for BGBT are important to determine eligibility for referral to psychogastroenterology services.
Publisher: Elsevier
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Nikitas, John;Subramanian, Kritika;Gozal, Nimrod Barashi;Ricaurte-Fajardo, Andres;Li, Eric;Proudfoot, James A;Davicioni, Elai;Marciscano, Ariel E;Osborne, Joseph R;Barbieri, Christopher E;Armstrong, Wesley R;Smith, Clayton P;Valle, Luca F;Steinberg, Michael L;Boutros, Paul C;Nickols, Nicholas G;Rettig, Matthew B;Reiter, Robert;Weiner, Adam B;Calais, Jeremie;Czernin, Johannes;Ross, Ashley Evan;Kim, Eric H;Nagar, Himanshu;Kishan, Amar U; 2024. Transcriptomic Profiling of Primary Prostate Cancers and Nonlocalized Disease on Prostate-Specific Membrane Antigen Positron Emission Tomography/Computed Tomography: A Multicenter Retrospective Study. JCO Precision Oncology; 2024; Vol. 8LIRIAS4186044
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Publisher: American Society of Clinical Oncology
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Feki, A;Acien, M;Sanie, S As;De Wilde, RL;Gordts, S;Guo, S-W;Keckstein, J;Lagana, AS;Maggiore, U Leone Roberti;Nisolle, M;Saridogan, E;Stewart, EA;Tellum, T;Tomassetti, C;Johnson, N;Le Clef, N;Grimbizis, G; 2024. Adenomyosis : the challenge of classification and diagnosis. Human Reproduction; 2024; Vol. 39; pp. I61 - + Publisher: Oxford University Press (OUP)LIRIAS4176945
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Kentistou, Katherine A;Kaisinger, Lena R;Stankovic, Stasa;Vaudel, Marc;Mendes de Oliveira, Edson;Messina, Andrea;Walters, Robin G;Liu, Xiaoxi;Busch, Alexander S;Helgason, Hannes;Thompson, Deborah J;Santoni, Federico;Petricek, Konstantin M;Zouaghi, Yassine;Huang-Doran, Isabel;Gudbjartsson, Daniel F;Bratland, Eirik;Lin, Kuang;Gardner, Eugene J;Zhao, Yajie;Jia, Raina Y;Terao, Chikashi;Riggan, Marjorie J;Bolla, Manjeet K;Yazdanpanah, Mojgan;Yazdanpanah, Nahid;Bradfield, Jonathan P;Broer, Linda;Campbell, Archie;Chasman, Daniel I;Cousminer, Diana L;Franceschini, Nora;Franke, Lude H;Girotto, Giorgia;He, Chunyan;Järvelin, Marjo-Riitta;Joshi, Peter K;Kamatani, Yoichiro;Karlsson, Robert;Luan, Jian'an;Lunetta, Kathryn L;Mägi, Reedik;Mangino, Massimo;Medland, Sarah E;Meisinger, Christa;Noordam, Raymond;Nutile, Teresa;Concas, Maria Pina;Polašek, Ozren;Porcu, Eleonora;Ring, Susan M;Sala, Cinzia;Smith, Albert V;Tanaka, Toshiko;van der Most, Peter J;Vitart, Veronique;Wang, Carol A;Willemsen, Gonneke;Zygmunt, Marek;Ahearn, Thomas U;Andrulis, Irene L;Anton-Culver, Hoda;Antoniou, Antonis C;Auer, Paul L;Barnes, Catriona LK;Beckmann, Matthias W;Berrington de Gonzalez, Amy;Bogdanova, Natalia V;Bojesen, Stig E;Brenner, Hermann;Buring, Julie E;Canzian, Federico;Chang-Claude, Jenny;Couch, Fergus J;Cox, Angela;Crisponi, Laura;Czene, Kamila;Daly, Mary B;Demerath, Ellen W;Dennis, Joe;Devilee, Peter;De Vivo, Immaculata;Dörk, Thilo;Dunning, Alison M;Dwek, Miriam;Eriksson, Johan G;Fasching, Peter A;Fernandez-Rhodes, Lindsay;Ferreli, Liana;Fletcher, Olivia;Gago-Dominguez, Manuela;García-Closas, Montserrat;García-Sáenz, José A;González-Neira, Anna;Grallert, Harald;Guénel, Pascal;Haiman, Christopher A;Hall, Per;Hamann, Ute;Hakonarson, Hakon;Hart, Roger J;Hickey, Martha;Hooning, Maartje J;Hoppe, Reiner;Hopper, John L;Hottenga, Jouke-Jan;Hu, Frank B;Huebner, Hanna;Hunter, David J;ABCTB Investigators, ;Jernström, Helena;John, Esther M;Karasik, David;Khusnutdinova, Elza K;Kristensen, Vessela N;Lacey, James V;Lambrechts, Diether;Launer, Lenore J;Lind, Penelope A;Lindblom, Annika;Magnusson, Patrik KE;Mannermaa, Arto;McCarthy, Mark I;Meitinger, Thomas;Menni, Cristina;Michailidou, Kyriaki;Millwood, Iona Y;Milne, Roger L;Montgomery, Grant W;Nevanlinna, Heli;Nolte, Ilja M;Nyholt, Dale R;Obi, Nadia;O'Brien, Katie M;Offit, Kenneth;Oldehinkel, Albertine J;Ostrowski, Sisse R;Palotie, Aarno;Pedersen, Ole B;Peters, Annette;Pianigiani, Giulia;Plaseska-Karanfilska, Dijana;Pouta, Anneli;Pozarickij, Alfred;Radice, Paolo;Rennert, Gad;Rosendaal, Frits R;Ruggiero, Daniela;Saloustros, Emmanouil;Sandler, Dale P;Schipf, Sabine;Schmidt, Carsten O;Schmidt, Marjanka K;Small, Kerrin;Spedicati, Beatrice;Stampfer, Meir;Stone, Jennifer;Tamimi, Rulla M;Teras, Lauren R;Tikkanen, Emmi;Turman, Constance;Vachon, Celine M;Wang, Qin;Winqvist, Robert;Wolk, Alicja;Zemel, Babette S;Zheng, Wei;van Dijk, Ko W;Alizadeh, Behrooz Z;Bandinelli, Stefania;Boerwinkle, Eric;Boomsma, Dorret I;Ciullo, Marina;Chenevix-Trench, Georgia;Cucca, Francesco;Esko, Tõnu;Gieger, Christian;Grant, Struan FA;Gudnason, Vilmundur;Hayward, Caroline;Kolčić, Ivana;Kraft, Peter;Lawlor, Deborah A;Martin, Nicholas G;Nøhr, Ellen A;Pedersen, Nancy L;Pennell, Craig E;Ridker, Paul M;Robino, Antonietta;Snieder, Harold;Sovio, Ulla;Spector, Tim D;Stöckl, Doris;Sudlow, Cathie;Timpson, Nic J;Toniolo, Daniela;Uitterlinden, André;Ulivi, Sheila;Völzke, Henry;Wareham, Nicholas J;Widen, Elisabeth;Wilson, James F;Lifelines Cohort Study, ;Danish Blood Donor Study, ;Ovarian Cancer Association Consortium, ;Breast Cancer Association Consortium, ;Biobank Japan Project, ;China Kadoorie Biobank Collaborative Group, ;Pharoah, Paul DP;Li, Liming;Easton, Douglas F;Njølstad, Pål R;Sulem, Patrick;Murabito, Joanne M;Murray, Anna;Manousaki, Despoina;Juul, Anders;Erikstrup, Christian;Stefansson, Kari;Horikoshi, Momoko;Chen, Zhengming;Farooqi, I Sadaf;Pitteloud, Nelly;Johansson, Stefan;Day, Felix R;Perry, John RB;Ong, Ken K; 2024. Understanding the genetic complexity of puberty timing across the allele frequency spectrum.. Nat Genet; 2024; Vol. 56; iss. 7; pp. 1397 - 1411 keyboard_arrow_downLIRIAS4165911
description
Pubertal timing varies considerably and is associated with later health outcomes. We performed multi-ancestry genetic analyses on ~800,000 women, identifying 1,080 signals for age at menarche. Collectively, these explained 11% of trait variance in an independent sample. Women at the top and bottom 1% of polygenic risk exhibited ~11 and ~14-fold higher risks of delayed and precocious puberty, respectively. We identified several genes harboring rare loss-of-function variants in ~200,000 women, including variants in ZNF483, which abolished the impact of polygenic risk. Variant-to-gene mapping approaches and mouse gonadotropin-releasing hormone neuron RNA sequencing implicated 665 genes, including an uncharacterized G-protein-coupled receptor, GPR83, which amplified the signaling of MC3R, a key nutritional sensor. Shared signals with menopause timing at genes involved in DNA damage response suggest that the ovarian reserve might signal centrally to trigger puberty. We also highlight body size-dependent and independent mechanisms that potentially link reproductive timing to later life disease.Published
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Ferlitsch, Monika;Hassan, Cesare;Bisschops, Raf;Bhandari, Pradeep;Dinis-Ribeiro, Mario;Risio, Mauro;Paspatis, Gregorios A;Moss, Alan;Libanio, Diogo;Lorenzo-Zuniga, Vincente;Voiosu, Andrei M;Rutter, Matthew D;Pellise, Maria;Moons, Leon MG;Probst, Andreas;Awadie, Halim;Amato, Arnaldo;Takeuchi, Yoji;Repici, Alessandro;Rahmi, Gabriel;Koecklin, Hugo U;Albeniz, Eduardo;Rockenbauer, Lisa-Maria;Waldmann, Elisabeth;Messmann, Helmut;Triantafyllou, Konstantinos;Jover, Rodrigo;Gralnek, Ian M;Dekker, Evelien;Bourke, Michael J; 2024. Colorectal polypectomy and endoscopic mucosal resection: European Society of Gastrointestinal Endoscopy (ESGE) Guideline - Update 2024. Endoscopy; 2024; Vol. 56; iss. 07; pp. 516 - 545 keyboard_arrow_downLIRIAS4158213
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1: ESGE recommends cold snare polypectomy (CSP), to include a clear margin of normal tissue (1-2 mm) surrounding the polyp, for the removal of diminutive polyps (≤ 5 mm).Strong recommendation, high quality of evidence. 2: ESGE recommends against the use of cold biopsy forceps excision because of its high rate of incomplete resection.Strong recommendation, moderate quality of evidence. 3: ESGE recommends CSP, to include a clear margin of normal tissue (1-2 mm) surrounding the polyp, for the removal of small polyps (6-9 mm).Strong recommendation, high quality of evidence. 4: ESGE recommends hot snare polypectomy for the removal of nonpedunculated adenomatous polyps of 10-19 mm in size.Strong recommendation, high quality of evidence. 5: ESGE recommends conventional (diathermy-based) endoscopic mucosal resection (EMR) for large (≥ 20 mm) nonpedunculated adenomatous polyps (LNPCPs).Strong recommendation, high quality of evidence. 6: ESGE suggests that underwater EMR can be considered an alternative to conventional hot EMR for the treatment of adenomatous LNPCPs.Weak recommendation, moderate quality of evidence. 7: Endoscopic submucosal dissection (ESD) may also be suggested as an alternative for removal of LNPCPs of ≥ 20 mm in selected cases and in high-volume centers.Weak recommendation, low quality evidence. 8: ESGE recommends that, after piecemeal EMR of LNPCPs by hot snare, the resection margins should be treated by thermal ablation using snare-tip soft coagulation to prevent adenoma recurrence.Strong recommendation, high quality of evidence. 9: ESGE recommends (piecemeal) cold snare polypectomy or cold EMR for SSLs of all sizes without suspected dysplasia.Strong recommendation, moderate quality of evidence. 10: ESGE recommends prophylactic endoscopic clip closure of the mucosal defect after EMR of LNPCPs in the right colon to reduce to reduce the risk of delayed bleeding.Strong recommendation, high quality of evidence. 11: ESGE recommends that en bloc resection techniques, such as en bloc EMR, ESD, endoscopic intermuscular dissection, endoscopic full-thickness resection, or surgery should be the techniques of choice in cases with suspected superficial invasive carcinoma, which otherwise cannot be removed en bloc by standard polypectomy or EMR.Strong recommendation, moderate quality of evidence.
Publisher: Thieme Publishing
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Abbasi, R;Ackermann, M;Adams, J;Agarwalla, SK;Aguilar, JA;Ahlers, M;Alameddine, JM;Amin, NM;Andeen, K;Anton, G;Arguelles, C;Ashida, Y;Athanasiadou, S;Ausborm, L;Axani, SN;Bai, X;Balagopal, A;Baricevic, M;Barwick, SW;Basu, V;Bay, R;Beatty, JJ;Tjus, J Becker;Beise, J;Bellenghi, C;Benning, C;BenZvi, S;Berley, D;Bernardini, E;Besson, DZ;Blaufuss, E;Blot, S;Bontempo, F;Book, JY;Meneguolo, C Boscolo;Boser, S;Botner, O;Bottcher, J;Braun, J;Brinson, B;Brostean-Kaiser, J;Brusa, L;Burley, RT;Busse, RS;Butterfield, D;Campana, MA;Carloni, K;Carnie-Bronca, EG;Chattopadhyay, S;Chau, N;Chen, C;Chen, Z;Chirkin, D;Choi, S;Clark, BA;Coleman, A;Collin, GH;Connolly, A;Conrad, JM;Coppin, P;Correa, P;Cowen, DF;Dave, P;De Clercq, C;DeLaunay, JJ;Delgado, D;Deng, S;Deoskar, K;Desai, A;Desiati, P;de Vries, KD;de Wasseige, G;DeYoung, T;Diaz, A;Diaz-Velez, JC;Dittmer, M;Domi, A;Dujmovic, H;DuVernois, MA;Ehrhardt, T;Eimer, A;Eller, P;Ellinger, E;El Mentawi, S;Elsasser, D;Engel, R;Erpenbeck, H;Evans, J;Evenson, PA;Fan, KL;Fang, K;Farrag, K;Fazely, AR;Fedynitch, A;Feigl, N;Fiedlschuster, S;Finley, C;Fischer, L;Fox, D;Franckowiak, A;Furst, P;Gallagher, J;Ganster, E;Garcia, A;Gerhardt, L;Ghadimi, A;Glaser, C;Glusenkamp, T;Gonzalez, JG;Grant, D;Gray, SJ;Gries, O;Griffin, S;Griswold, S;Groth, KM;Gunther, C;Gutjahr, P;Ha, C;Haack, C;Hallgren, A;Halliday, R;Halve, L;Halzen, F;Hamdaoui, H;Minh, M Ha;Handt, M;Hanson, K;Hardin, J;Harnisch, AA;Hatch, P;Haungs, A;Haussler, J;Helbing, K;Hellrung, J;Hermannsgabner, J;Heuermann, L;Heyer, N;Hickford, S;Hidvegi, A;Hill, C;Hill, GC;Hoffman, KD;Hori, S;Hoshina, K;Hou, W;Huber, T;Hultqvist, K;Hunnefeld, M;Hussain, R;Hymon, K;In, S;Ishihara, A;Jacquart, M;Janik, O;Jansson, M;Japaridze, GS;Jeong, M;Jin, M;Jones, BJP;Kamp, N;Kang, D;Kang, W;Kang, X;Kappes, A;Kappesser, D;Kardum, L;Karg, T;Karl, M;Karle, A;Katil, A;Katz, U;Kauer, M;Kelley, JL;Zathul, A Khatee;Kheirandish, A;Kiryluk, J;Klein, SR;Kochocki, A;Koirala, R;Kolanoski, H;Kontrimas, T;Kopke, L;Kopper, C;Koskinen, DJ;Koundal, P;Kovacevich, M;Kowalski, M;Kozynets, T;Krishnamoorthi, J;Kruiswijk, K;Krupczak, E;Kumar, A;Kun, E;Kurahashi, N;Lad, N;Gualda, C Lagunas;Lamoureux, M;Larson, MJ;Latseva, S;Lauber, F;Lazar, JP;Lee, JW;DeHolton, K Leonard;Leszczynska, A;Lincetto, M;Liu, Y;Liubarska, M;Lohfink, E;Love, C;Mariscal, CJ Lozano;Lu, L;Lucarelli, F;Luszczak, W;Lyu, Y;Madsen, J;Magnus, E;Mahn, KBM;Makino, Y;Manao, E;Mancina, S;Sainte, W Marie;Maris, IC;Marka, S;Marka, Z;Marsee, M;Martinez-Soler, I;Maruyama, R;Mayhew, F;McElroy, T;McNally, F;Mead, JV;Meagher, K;Mechbal, S;Medina, A;Meier, M;Merckx, Y;Merten, L;Micallef, J;Mitchell, J;Montaruli, T;Moore, RW;Morii, Y;Morse, R;Moulai, M;Mukherjee, T;Naab, R;Nagai, R;Nakos, M;Naumann, U;Necker, J;Negi, A;Neumann, M;Niederhausen, H;Nisa, MU;Noell, A;Novikov, A;Nowicki, SC;Pollmann, A Obertacke;O'Dell, V;Oeyen, B;Olivas, A;Orsoe, R;Osborn, J;O'Sullivan, E;Pandya, H;Park, N;Parker, GK;Paudel, EN;Paul, L;de los Heros, C Perez;Pernice, T;Peterson, J;Philippen, S;Pizzuto, A;Plum, M;Ponten, A;Popovych, Y;Rodriguez, M Prado;Pries, B;Procter-Murphy, R;Przybylski, GT;Raab, C;Rack-Helleis, J;Rawlins, K;Rechav, Z;Rehman, A;Reichherzer, P;Resconi, E;Reusch, S;Rhode, W;Riedel, B;Rifaie, A;Roberts, EJ;Robertson, S;Rodan, S;Roellinghoff, G;Rongen, M;Rosted, A;Rott, C;Ruhe, T;Ruohan, L;Ryckbosch, D;Safa, I;Saffer, J;Salazar-Gallegos, D;Sampathkumar, P;Herrera, SE Sanchez;Sandrock, A;Santander, M;Sarkar, S;Sarkar, S;Savelberg, J;Savina, P;Schaufel, M;Schieler, H;Schindler, S;Schlickmann, L;Schluter, B;Schluter, F;Schmeisser, N;Schmidt, T;Schneider, J;Schroder, FG;Schumacher, L;Sclafani, S;Seckel, D;Seikh, M;Seunarine, S;Shah, R;Shefali, S;Shimizu, N;Silva, M;Skrzypek, B;Smithers, B;Snihur, R;Soedingrekso, J;Sogaard, A;Soldin, D;Soldin, P;Sommani, G;Spannfellner, C;Spiczak, GM;Spiering, C;Stamatikos, M;Stanev, T;Stezelberger, T;Sturwald, T;Stuttard, T;Sullivan, GW;Taboada, I;Ter-Antonyan, S;Terliuk, A;Thiesmeyer, M;Thompson, WG;Thwaites, J;Tilav, S;Tollefson, K;Tonnis, C;Toscano, S;Tosi, D;Trettin, A;Tung, CF;Turcotte, R;Twagirayezu, JP;Elorrieta, MA Unland;Upadhyay, AK;Upshaw, K;Vaidyanathan, A;Valtonen-Mattila, N;Vandenbroucke, J;van Eijndhoven, N;Vannerom, D;van Santen, J;Vara, J;Veitch-Michaelis, J;Venugopal, M;Vereecken, M;Verpoest, S;Veske, D;Vijai, A;Walck, C;Wang, Y;Weaver, C;Weigel, P;Weindl, A;Weldert, J;Wen, AY;Wendt, C;Werthebach, J;Weyrauch, M;Whitehorn, N;Wiebusch, CH;Williams, DR;Witthaus, L;Wolf, A;Wolf, M;Wrede, G;Xu, XW;Yanez, JP;Yildizci, E;Yoshida, S;Young, R;Yu, S;Yuan, T;Zhang, Z;Zhelnin, P;Zilberman, P;Zimmerman, M; 2024. Search for decoherence from quantum gravity with atmospheric neutrinos. Nature Physics; 2024; Vol. 20; iss. 6LIRIAS4155105
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Publisher: Nature Research
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Dawson, H;Geier, S;Heber, U;Pelisoli, I;Dorsch, M;Schaffenroth, V;Reindl, N;Culpan, R;Pritzkuleit, M;Vos, J;Soemitro, AA;Roth, MM;Schneider, D;Uzundag, M;Vuckovic, M;Amaral, L Antunes;Istrate, AG;Justham, S;Ostensen, RH;Telting, JH;Djupvik, AA;Raddi, R;Green, EM;Jeffery, CS;Kepler, SO;Munday, J;Steinmetz, T;Kupfer, T; 2024. A 500 pc volume-limited sample of hot subluminous stars: I. Space density, scale height, and population properties. Astronomy & Astrophysics; 2024; Vol. 686LIRIAS4167012
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Publisher: EDP Sciences
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