280 results on '"Gilis P"'
Search Results
2. Increased incidence of myxedema coma during the COVID-19 pandemic and in the post pandemic era: a single-center case series
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Sokołowski, Grzegorz, Studen, Katica Bajuk, Opalinska, Marta, Wegrzyn, Karolina, Motyka, Marcin, Gilis-Januszewska, Aleksandra, and Hubalewska-Dydejczyk, Alicja
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- 2024
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3. Patients with Cushing’s syndrome suffer from provoked venous thromboembolism and are anticoagulated in various patterns
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Agata Hanna Bryk-Wiązania, Mari Minasyan, Alicja Hubalewska-Dydejczyk, and Aleksandra Gilis-Januszewska
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anticoagulants ,cushing’s disease ,cushing’s syndrome ,risk factors for venous thromboembolism ,venous thromboembolism ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 - Abstract
Objective: Cushing’s syndrome (CS) is associated with an 18-fold greater risk of venous thromboembolism (VTE). We aimed to identify factors which provoke VTE among patients with CS and VTE and to describe the anticoagulant regimen used in these cases. Methods: In this retrospective observational study, patients included in the European Registry on CS (ERCUSYN) in Krakow center, Poland, were followed for the occurrence of VTE and anticoagulant treatment. We identified factors provoking VTE according to the International Society of Thrombosis and Hemostasis (ISTH), along with factors included in the Padua score and CS-VTE score. Results: Of the 128 patients followed for a median of 4.3 years, there were nine patients who experienced ten VTE episodes (prevalence of 7.8% and incidence of 13.4 per 1000 patient-years). All VTEs were classified as provoked according to the ISTH guidance, predominantly due to the transient major and minor (50% and 20%, respectively) factors, while they were less commonly due to persistent (30%) factors. In 2/9 patients, we could not identify any risk factor for VTE according to the Padua score, while in 2/6 patients according to the CS-VTE score. Patients were mostly anticoagulated with vitamin K antagonists (4/8 patients), followed by direct oral anticoagulants (3/8) and low-molecular-weight heparin (1/8). The median duration of anticoagulation was 2.75 years and exceeded beyond the primary treatment in 28% of episodes provoked by transient factors. Conclusion: Further, multicenter studies are required to create a validated thrombotic risk score and guidelines regarding VTE treatment in CS patients.
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- 2024
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4. Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins
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Zygmunt-Górska, Agata, Wójcik, Małgorzata, Gilis-Januszewska, Aleksandra, Starmach, Anna, Bik-Multanowski, Mirosław, and Starzyk, Jerzy B.
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- 2024
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5. Life-threatening amiodarone-induced thyrotoxicosis – Personalized approach to radical treatment
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Marta Opalińska, Jacek Pantofliński, Grzegorz Sokołowski, Dorota Pach, Marta Kostecka-Matyja, Katarzyna Żabicka, Bartosz Partyński, Małgorzata Kieć-Klimczak, Anna Sowa-Staszczak, Monika Buziak-Bereza, Aleksandra Gilis-Januszewska, and Alicja Hubalewska-Dydejczyk
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Thyrotoxicosis ,AIT ,Amiodarone ,Salvage therapy ,131-I ,Science (General) ,Q1-390 ,Social sciences (General) ,H1-99 - Abstract
Objective: Amiodarone is an iodine-rich molecule and an effective antiarrhythmic drug. It is a first-line treatment for patients with life-threatening ventricular arrhythmias and for prevention in patients at high risk. The use of amiodarone may cause serious adverse effects such as pharmacotherapy-resistant, life-threatening amiodarone-induced thyrotoxicosis (AIT)leading to rapid deterioration of the patient's condition.According to the European Thyroid Association (ETA) guidelines, emergency thyroidectomy is the first-line treatment option in these cases. ; however, is not always feasible in the clinical setting due to the high anesthetic risk.We aimed to assess the clinical course and results of urgent thyroidectomy and 131-I therapy in patients with severe AIT with worsening of cardiac status. Methods: Retrospective analysis of the clinical course and outcomes of life-threatening AIT refractory to pharmacotherapy in patients hospitalized at a tertiary endocrinology center between 2014 and 2022. Results: An electronic database search identified 75 patients hospitalized for severe AIT. At the time of AIT diagnosis, median Thyroid-stimulating hormone (TSH) concentration was 0.001 mIU/L (range 0.001–0.35), fT4 63.2 pmol/L (range 9.0 - >100), and fT3 10.2 pmol/L (range 3.8–49.3). All patients received optimal conservative treatment. Among them, 20 required urgent radical therapy due to worsening arrhythmias and/or AIT-related heart failure. In this group, 6 patients died before any radical treatment was applied, 6 underwent total thyroidectomy, while 8 patients were successfully treated with 131-I (in 6 cases after rhTSH stimulation). The median dose of 131-I used for the therapy was 784MBq (range 627–860). The decision to treat with 131-I despite low but detectable 131-I uptake (median value 6 %) was made in cases of significant contraindications to anesthesia due to refractory ventricular arrhythmias, exacerbation of severe heart failure unresponsive to cardiac treatment, myocardial infarction during AIT course, massive pulmonary embolism. Conclusion: The decision regarding the optimal time and type of radical treatment of AIT refractory to pharmacotherapy is critical for patients management and should not be delayed. Urgent therapy with 131-I may be an effective therapeutic option in patients who are unsuitable for thyroidectomy due to the high risk of anesthesia.
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- 2024
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6. Childhood craniopharyngioma: a retrospective study of children followed in Hôpital Universitaire de Bruxelles
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Clémentine Magerman, Emese Boros, Marco Preziosi, Sophie Lhoir, Nathalie Gilis, Olivier De Witte, Claudine Heinrichs, Isabelle Salmon, Christophe Fricx, Françoise Vermeulen, Laetitia Lebrun, Cécile Brachet, and Marine Rodesch
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childhood craniopharyngioma ,neurosurgery ,radiotherapy ,hypothalamic obesity ,endocrine disorders ,visual disorders ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 - Abstract
IntroductionCraniopharyngiomas (CPs) are benign brain tumors accounting for 5 - 11% of intracranial tumors in children. These tumors often recur and can cause severe morbidity. Postoperative radiotherapy efficiently controls and prevents progression and recurrence. Despite advancements in neurosurgery, endocrinological, visual, and neuropsychological complications are common and significantly lower the quality of life of patients.MethodsWe performed a retrospective study, including all patients younger than sixteen diagnosed with CP between July 1989 and August 2022 and followed up in Hôpital Universitaire de Bruxelles.ResultsNineteen children with CP were included, with median age of 7 years at first symptoms and 7.5 at diagnosis. Common symptoms at diagnosis were increased intracranial pressure (63%), visual impairment (47%), growth failure (26%), polyuria/polydipsia (16%), and weight gain (10.5%). As clinical signs at diagnosis, growth failure was observed in 11/18 patients, starting with a median lag of 1 year and 4 months before diagnosis. On ophthalmological examination, 27% of patients had papillary edema and 79% had visual impairment. When visual disturbances were found, the average preoperative volume was higher (p=0.039). Only 6/19 patients had gross total surgical resection. After the first neurosurgery, 83% experienced tumor recurrence or progression at a median time of 22 months. Eleven patients (73%) underwent postsurgical radiotherapy. At diagnosis, growth hormone deficiency (GHD) was the most frequent endocrine deficit (8/17) and one year post surgery, AVP deficiency was the most frequent deficit (14/17). Obesity was present in 13% of patients at diagnosis, and in 40% six months after surgery. There was no significant change in body mass index over time (p=0.273) after the first six months post-surgery.ConclusionCP is a challenging brain tumor that requires multimodal therapy and lifelong multidisciplinary follow-up including hormonal substitution therapy. Early recognition of symptoms is crucial for prompt surgical management. The management of long-term sequelae and morbidity are crucial parts of the clinical path of the patients. The results of this study highlight the fundamental importance of carrying out a complete assessment (ophthalmological, endocrinological, neurocognitive) at the time of diagnosis and during follow-up so that patients can benefit from the best possible care.
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- 2024
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7. Correction: Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins
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Zygmunt-Górska, Agata, Wójcik, Małgorzata, Gilis-Januszewska, Aleksandra, Starmach, Anna, Bik-Multanowski, Mirosław, and Starzyk, Jerzy B.
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- 2024
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8. Protein citrullination and NET formation do not contribute to the pathology of A20/TNFAIP3 mutant mice
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Karel F. A. Van Damme, Pieter Hertens, Arne Martens, Elisabeth Gilis, Dario Priem, Inge Bruggeman, Amelie Fossoul, Jozefien Declercq, Helena Aegerter, Andy Wullaert, Tino Hochepied, Esther Hoste, Lieselotte Vande Walle, Mohamed Lamkanfi, Savvas N. Savvides, Dirk Elewaut, Bart N. Lambrecht, and Geert van Loo
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Medicine ,Science - Abstract
Abstract A20 serves as a critical brake on NF-κB-dependent inflammation. In humans, polymorphisms in or near the TNFAIP3/A20 gene have been linked to various inflammatory disorders, including systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Experimental gene knockout studies in mice have confirmed A20 as a susceptibility gene for SLE and RA. Here, we examine the significance of protein citrullination and NET formation in the autoimmune pathology of A20 mutant mice because autoimmunity directed against citrullinated antigens released by neutrophil extracellular traps (NETs) is central to the pathogenesis of RA and SLE. Furthermore, genetic variants impairing the deubiquitinase (DUB) function of A20 have been shown to contribute to autoimmune susceptibility. Our findings demonstrate that genetic disruption of A20 DUB function in A20 C103R knockin mice does not result in autoimmune pathology. Moreover, we show that PAD4 deficiency, which abolishes protein citrullination and NET formation, does not prevent the development of autoimmunity in A20 deficient mice. Collectively, these findings provide experimental confirmation that PAD4-dependent protein citrullination and NET formation do not serve as pathogenic mechanisms in the development of RA and SLE pathology in mice with A20 mutations.
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- 2023
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9. Protein citrullination and NET formation do not contribute to the pathology of A20/TNFAIP3 mutant mice
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Van Damme, Karel F. A., Hertens, Pieter, Martens, Arne, Gilis, Elisabeth, Priem, Dario, Bruggeman, Inge, Fossoul, Amelie, Declercq, Jozefien, Aegerter, Helena, Wullaert, Andy, Hochepied, Tino, Hoste, Esther, Vande Walle, Lieselotte, Lamkanfi, Mohamed, Savvides, Savvas N., Elewaut, Dirk, Lambrecht, Bart N., and van Loo, Geert
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- 2023
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10. Clinicopathological and molecular characterization of a case classified by DNA‑methylation profiling as “CNS embryonal tumor with BRD4–LEUTX fusion”
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Lebrun, Laetitia, Allard-Demoustiez, Sacha, Gilis, Nathalie, Van Campenhout, Claude, Rodesch, Marine, Roman, Celine, Calò, Pierluigi, Lolli, Valentina, David, Philippe, Fricx, Christophe, De Witte, Olivier, Escande, Fabienne, Maurage, Claude-Alain, and Salmon, Isabelle
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- 2023
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11. Meta-analysis of (single-cell method) benchmarks reveals the need for extensibility and interoperability
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Sonrel, Anthony, Luetge, Almut, Soneson, Charlotte, Mallona, Izaskun, Germain, Pierre-Luc, Knyazev, Sergey, Gilis, Jeroen, Gerber, Reto, Seurinck, Ruth, Paul, Dominique, Sonder, Emanuel, Crowell, Helena L., Fanaswala, Imran, Al-Ajami, Ahmad, Heidari, Elyas, Schmeing, Stephan, Milosavljevic, Stefan, Saeys, Yvan, Mangul, Serghei, and Robinson, Mark D.
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- 2023
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12. The thrombotic risk in Cushing’s syndrome—questions, answers, and the algorithm to consider in its assessment: part I—thrombotic risk not related to surgery
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Agata Hanna Bryk-Wiązania, Mari Minasyan, Renata Świątkowska-Stodulska, Anetta Undas, Alicja Hubalewska-Dydejczyk, Susan M. Webb, Elena Valassi, and Aleksandra Gilis-Januszewska
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Cushing's syndrome ,ectopic adrenocorticotropic hormone syndrome ,venous thromboembolism ,thrombotic risk ,thromboprophylaxis ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 - Abstract
IntroductionRecently, it has been reported that there is a great diversity in strategies used for thromboprophylaxis in patients with Cushing’s syndrome (CS). An aim of this review was to discuss these practices in light of the existing data on the thrombotic risk in patients with CS and guidelines for medically ill patients.MethodsThe four relevant topics and questions on thrombotic risk in CS were identified. The current guidelines on prevention and diagnosis of venous thromboembolism (VTE) were reviewed for the answers. An algorithm to consider in the assessment of the thrombotic risk in patients with CS was proposed.ResultsTo address both generic and CS-specific risk factors for VTE, the algorithm includes the stepwise approach consisting of Padua Score, urine free cortisol, and CS-VTE score, with no indication for routine thrombophilia testing in the prediction of an index VTE episode. Having confirmed VTE, selected patients require thrombophilia testing to aid the duration of anticoagulant treatment. The separate part of the algorithm is devoted to patients with ectopic adrenocorticotropic hormone syndrome in whom exclusion of VTE precedes introducing routine thromboprophylaxis to prevent VTE. The cancer-related VTE also prompts thromboprophylaxis, with the possible vessel invasion. The algorithm presents a unifactorial and multifactorial approach to exclude high-bleeding risks and safely introduce thromboprophylaxis with low-molecular-weight heparin.SummaryOur article is the first to present an algorithm to consider in the thrombotic risk assessment among patients with Cushing’s syndrome as a starting point for a broader discussion in the environment. A plethora of factors affect the VTE risk in patients with CS, but no studies have conclusively evaluated the best thromboprophylaxis strategy so far. Future studies are needed to set standards of care.
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- 2024
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13. Early and late outcomes after minimally invasive direct coronary artery bypass vs. full sternotomy off-pump coronary artery bypass grafting
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Mohammad Sharaf, Armin Zittermann, Jakub Sunavsky, Tomasz Gilis-Januszewski, Sebastian V. Rojas, Julia Götte, Dragan Opacic, Darko Radakovic, Georges El-Hachem, Artyom Razumov, Andre Renner, Jan F. Gummert, and Marcus-André Deutsch
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coronary artery bypass grafting ,myocardial revascularization ,off-pump coronary artery bypass grafting ,MIDCAB ,full sternotomy ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
ObjectivesMinimally-invasive direct coronary artery bypass (MIDCAB) is a less-invasive alternative to full sternotomy off-pump coronary artery bypass (FS-OPCAB) revascularization of the left anterior descending artery (LAD). Some studies suggested that MIDCAB is associated with a greater risk of graft occlusion and repeat revascularization than FS-OPCAB LIMA-to-LAD grafting. Data comparing MIDCAB to FS-OPCAB with regard to long-term follow-up is scarce. We compared short- and long-term results of MIDCAB vs. FS-OPCAB revascularization over a maximum follow-up period of 10 years.Patients and methodsFrom December 2009 to June 2020, 388 elective patients were included in our retrospective study. 229 underwent MIDCAB, and 159 underwent FS-OPCAB LIMA-to-LAD grafting. Inverse probability of treatment weighting (IPTW) was used to adjust for selection bias and to estimate treatment effects on short- and long-term outcomes. IPTW-adjusted Kaplan–Meier estimates by study group were calculated for all-cause mortality, stroke, the risk of repeat revascularization and myocardial infarction up to a maximum follow-up of 10 years.ResultsMIDCAB patients had less rethoracotomies (n = 13/3.6% vs. n = 30/8.0%, p = 0.012), fewer transfusions (0.93 units ± 1.83 vs. 1.61 units ± 2.52, p
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- 2024
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14. Expertise in surgical neuro-oncology. Results of a survey by the EANS neuro-oncology section
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K. Gousias, A. Hoyer, L.A. Mazurczyk, J. Bartek, Jr., M. Bruneau, E. Celtikci, N. Foroglou, C. Freyschlag, R. Grossman, C. Jungk, P. Metellus, D. Netuka, R. Rola, P. Schucht, C. Senft, F. Signorelli, A.J.P.E. Vincent, M. Simon, Rachit Agrawal, Luigi Albano, George A. Alexiou, Amanj Ali, Rafid Al-Mahfoudh, Michael Amoo, Christos Anagnostopoulos, Sven Bamps, Soham Bandyopadhyay, Damiano G. Barone, Fabio Barone, Sami Barrit, Felix Behling, Alin Blaga, Alexandros Boukas, Paul Brennan, Vicki M. Butenschoen, Mauro Campello, Areda Cara, Salvatore Chibbaro, Robert Chrenko, Pere J. Cifre Serra, Hans Clusmann, Alba Corell, Jan F. Cornelius, Marcello D'Andrea, Andreas K. Demetriades, Steven De Vleeschouwer, Richard Drexler, Johnny Duerinck, Ruben V. Fanarjyan, Alejandro Fernandez-Coello, Kostas Fountas, Thomas M. Freiman, Vadim Gadzhiagaev, Miltiadis Georgiopoulos, Nathalie Gilis, Jagos Golubovic, Eric Goulin Lippi Fernandes, Giovanni Grasso, Francesco Guerrini, Beste Gulsuna, Ciaran S. Hill, Julius Höhne, Markus Holling, Ievgenii Iarmoliuk, Florian Ioan-Alexandru, Tamara Ius, Kestutis Jacikevicius, Asgeir S. Jakola, Paweł Jakubowski, Georgios Kalantzis, Konstantina Karabatsou, Ramez Kirollos, Ralph König, Danil A. Kozyrev, Dietmar Krex, Barbara Ladisich, Ruth Lau, Yauhen Lizunou, Arnaud Lombard, Hu Liang Low, José Luís Alves, Yazid Maghrabi, Marco Mammi, Ala Marji, Luca Massimi, Ioannis Mavridis, Aaron Lawson McLean, Anna C. Lawson McLean, Bernhard Meyer, Malte Mohme, Pedro Moura Branco, Michael Müther, Issam Musleh, Danial Nasiri, Ramon Navarro, Ibrahim Omerhodzic, Marvin Darkwah Oppong, Nikolaos A. Paidakakos, Zoi Pantera, Mohammed A. Patel, Mateusz Pawlowski, Athanasios Petridis, Adrian J. Praeger, Stephen Price, Franz Ricklefs, Luigi Rigante, Florian Ringel, Pierre A. Robe, Karl Rössler, Eduarda Sá-Marta, Jose L. Sanmillan, Alba Scerrati, Matthias Schneider, Henry W.S. Schroeder, Michael Schwake, Mohamed Shoaib, Octavian Mihai Sirbu, Iñigo L. Sistiaga, Tomasz J. Skajster, Albertas Sliauzys, Vitaly Sokotukhin, Jehuda Soleman, Veit M. Stoecklein, Eric Suero Molina, Wojciech Świątnicki, Νikolaos Syrmos, Graziano Taddei, Avin Taher, Martin Tamarit, Mark ter Laan, Theocharis Theocharous, Dieter Thijs, Leonidas Trakolis, Monica Truffelli, Miriam Weiss, Eberhard Uhl, Laura Grazia Valentini, Dimitri Vanhauwaert, Bassel Zebian, Bojana Zivkovic, and Matteo Zoli
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Expertise ,Surgical neuro-oncology ,EANS ,CNS tumors ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Introduction: Technical advances and the increasing role of interdisciplinary decision-making may warrant formal definitions of expertise in surgical neuro-oncology. Research question: The EANS Neuro-oncology Section felt that a survey detailing the European neurosurgical perspective on the concept of expertise in surgical neuro-oncology might be helpful. Material and methods: The EANS Neuro-oncology Section panel developed an online survey asking questions regarding criteria for expertise in neuro-oncological surgery and sent it to all individual EANS members. Results: Our questionnaire was completed by 251 respondents (consultants: 80.1%) from 42 countries. 67.7% would accept a lifetime caseload of >200 cases and 86.7% an annual caseload of >50 as evidence of neuro-oncological surgical expertise. A majority felt that surgeons who do not treat children (56.2%), do not have experience with spinal fusion (78.1%) or peripheral nerve tumors (71.7%) may still be considered experts. Majorities believed that expertise requires the use of skull-base approaches (85.8%), intraoperative monitoring (83.4%), awake craniotomies (77.3%), and neuro-endoscopy (75.5%) as well as continuing education of at least 1/year (100.0%), a research background (80.0%) and teaching activities (78.7%), and formal interdisciplinary collaborations (e.g., tumor board: 93.0%). Academic vs. non-academic affiliation, career position, years of neurosurgical experience, country of practice, and primary clinical interest had a minor influence on the respondents’ opinions. Discussion and conclusion: Opinions among neurosurgeons regarding the characteristics and features of expertise in neuro-oncology vary surprisingly little. Large majorities favoring certain thresholds and qualitative criteria suggest a consensus definition might be possible.
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- 2024
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15. Treatment of medication-related osteonecrosis of the jaw with cell therapy
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Cyril Lucien Bouland, Rokneddine Javadian, Sarah Gilis, Antoine Yanni, Maxime Le Clercq, Pierre Mestrallet, Stelianos Kampouridis, Dominique Bron, Martin Lalmand, Xavier Vanden Eynden, Edward Boutremans, Didier Dequanter, Isabelle Loeb, Pierre Philippart, Laurence Lagneaux, and Nathalie Meuleman
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medication-related osteonecrosis of the jaw (MRONJ) ,MRONJ ,stromal vascular fraction (SVF) ,SVF ,leukocyte-platelet-rich fibrin ,L-PRF ,Biology (General) ,QH301-705.5 - Abstract
Introduction: Medication-related osteonecrosis of the jaw (MRONJ) poses a significant challenge considering the absence of a “gold standard” treatment. Cell-based therapy and tissue engineering offer promising therapeutic alternatives. This study aimed to harness the regenerative properties of adipose-tissue stromal vascular fraction (AT-SVF) and leukocyte-platelet-rich fibrin (L-PRF) for MRONJ treatment. AT-SVF contains mesenchymal stromal cells (MSC) and endothelial progenitor cells (EPC), which promote bone formation, while the L-PRF scaffold can serve as a three-dimensional scaffold for the AT-SVF and support tissue healing through growth factor release.Materials and methods: The protocol involved applying autologous AT-SVF within an L-PRF matrix following surgical debridement. Age, gender, body mass index, comorbidities, underlying oncological condition, prescribed antiresorptive treatment: BP or DMB, antiresorptive treatment duration, antiresorptive treatment potential discontinuation, number of MRONJ lesion, MRONJ location, MRONJ stage, MRONJ trigger factor were assessed for each patient. Patients underwent the procedure and were monitored for a minimum of 6 months based on clinical, biological and medical imaging criteria.Results: Nine patients, with a total of ten MRONJ lesions, participated in the study. Six patients were female, and three were male, with a mean age of 68 ± 8 years. Four patients had multiple myeloma (MM), three had metastatic breast cancer, and two had metastatic prostate cancer. Seven MRONJ cases were classified as stage II, and three were classified as stage III. Soft tissue completely healed within a month after treatment in nine cases, with no clinical improvement observed in the remaining case. During follow-up, no sign of MRONJ recurrence was observed. Tridimensional medical imaging revealed bone healing 6 months after the surgical procedure. Immunophenotyping confirmed the presence of MSC and EPC in the AT-SVF: 12,6 ± 4,5% CD31+, 20.5 ± 7,8% CD34+, 34,4 ± 7,3% CD146+ and 54,6 ± 7,4% CD45+.Conclusion: This prospective study introduces a potential new treatment approach for MRONJ using autologous AT-SVF within an L-PRF scaffold. Our results are encouraging and suggest the need for further investigation with a larger patient cohort to better understand the underlying mechanisms.
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- 2024
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16. Radiological characterization of pediatric intramedullary astrocytomas: Do they differ from adults?
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Nathalie Gilis, Laetitia Lebrun, Valentina Lolli, Philippe David, Marine Rodesch, Alix Bex, Christophe Fricx, Vivianne De Maertelaer, Isabelle Salmon, and Olivier De Witte
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Intramedullary astrocytoma ,Pediatric spinal cord tumor ,Pilocytic astrocytoma ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Introduction: The incidence of intramedullary spinal cord tumors ranges from 2 to 4% of all central nervous system tumors. Only 6–8% are astrocytomas. The gold standard to diagnose a spinal cord tumor is the spinal cord MRI in toto. Specific radiological criteria orient the diagnosis of the intradural intramedullary lesion. Most of the authors studied adult populations of astrocytomas. However, pediatric astrocytomas present certain particularities. Research question: This work aims to determine if the usual radiological criteria of intramedullary astrocytomas (IMAs) are different depending on the patient's age. Material & methods: We evaluated the radiological features of IMAs in adult and pediatric groups through a retrospective study. Results: We collected 31 patients with IMAs (11 children and 20 adults). We observed some trends but we did not highlight any statistically significant difference between all the radiological criteria studied (sagittal and axial spinal cord localization, T1-and T2-weighted characteristics, contrast uptake, infiltrating character, presence of necrosis, heterogeneous lesion, necrotic, hemorrhagic, presence of edema) and the patient's age. Discussion & conclusion: Given the rarity of IMAs and the lack of large specific pediatric studies, it seems essential to routinely report all cases encountered and create multicentric pediatric databases to draw more robust conclusions.
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- 2024
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17. Residence of the Nucleotide Sugar Transporter Family Members SLC35F1 and SLC35F6 in the Endosomal/Lysosomal Pathway
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François Van den Bossche, Virginie Tevel, Florentine Gilis, Jean-François Gaussin, Marielle Boonen, and Michel Jadot
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lysosome ,recycling endosomes ,nucleotide sugar transporter ,SLC35F1 ,SLC35F6 ,subcellular localization ,Biology (General) ,QH301-705.5 ,Chemistry ,QD1-999 - Abstract
The SLC35 (Solute Carrier 35) family members acting as nucleotide sugar transporters are typically localized in the endoplasmic reticulum or Golgi apparatus. It is, therefore, intriguing that some reports document the presence of orphan transporters SLC35F1 and SLC35F6 within the endosomal and lysosomal system. Here, we compared the subcellular distribution of these proteins and found that they are concentrated in separate compartments; i.e., recycling endosomes for SLC35F1 and lysosomes for SLC35F6. Swapping the C-terminal tail of these proteins resulted in a switch of localization, with SLC35F1 being trafficked to lysosomes while SLC35F6 remained in endosomes. This suggested the presence of specific sorting signals in these C-terminal regions. Using site-directed mutagenesis, fluorescence microscopy, and cell surface biotinylation assays, we found that the EQERLL360 signal located in the cytoplasmic tail of human SLC35F6 is involved in its lysosomal sorting (as previously shown for this conserved sequence in mouse SLC35F6), and that SLC35F1 localization in the recycling pathway depends on two YXXΦ-type signals: a Y367KQF sequence facilitates its internalization from the plasma membrane, while a Y392TSL motif prevents its transport to lysosomes, likely by promoting SLC35F1 recycling to the cell surface. Taken together, these results support that some SLC35 members may function at different levels of the endosomal and lysosomal system.
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- 2024
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18. Urinary proteomics combined with home blood pressure telemonitoring for health care reform trial—First progress report
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Babangida S. Chori, De‐Wei An, Dries S. Martens, Yu‐Ling Yu, Natasza Gilis‐Malinowska, Sani M. Abubakar, Etubi A. Ibrahim, Ojonojima Ajanya, Olugbenga O. Abiodun, Tina Anya, Iyidobi Tobechukwu, Godsent Isiguzo, Hao‐Min Cheng, Chen‐Huan Chen, Chia‐Te Liao, Gontse Mokwatsi, Katarzyna Stolarz‐Skrzypek, Wiktoria Wojciechowska, Krzysztof Narkiewicz, Marek Rajzer, Jana Brguljan‐Hitij, Tim S. Nawrot, Kei Asayama, Peter Reyskens, Harald Mischak, Augustine N. Odili, Jan A. Staessen, and the UPRIGHT‐HTM Investigators
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chronic kidney disease ,home blood pressure telemonitoring ,hypertension ,left ventricular function ,risk factors ,type‐2 diabetes mellitus ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Abstract High blood pressure (BP) and type‐2 diabetes (T2DM) are forerunners of chronic kidney disease and left ventricular dysfunction. Home BP telemonitoring (HTM) and urinary peptidomic profiling (UPP) are technologies enabling risk stratification and personalized prevention. UPRIGHT‐HTM (NCT04299529) is an investigator‐initiated, multicenter, open‐label, randomized trial with blinded endpoint evaluation designed to assess the efficacy of HTM plus UPP (experimental group) over HTM alone (control group) in guiding treatment in asymptomatic patients, aged 55–75 years, with ≥5 cardiovascular risk factors. From screening onwards, HTM data can be freely accessed by all patients and their caregivers; UPP results are communicated early during follow‐up to patients and caregivers in the intervention group, but at trial closure in the control group. From May 2021 until January 2023, 235 patients were screened, of whom 53 were still progressing through the run‐in period and 144 were randomized. Both groups had similar characteristics, including average age (62.0 years) and the proportions of African Blacks (81.9%), White Europeans (16.7%), women 56.2%, home (31.2%), and office (50.0%) hypertension, T2DM (36.4%), micro‐albuminuria (29.4%), and ECG (9.7%) and echocardiographic (11.5%) left ventricular hypertrophy. Home and office BP were 128.8/79.2 mm Hg and 137.1/82.7 mm Hg, respectively, resulting in a prevalence of white‐coat, masked and sustained hypertension of 40.3%, 11.1%, and 25.7%. HTM persisted after randomization (48 681 readings up to 15 January 2023). In conclusion, results predominantly from low‐resource sub‐Saharan centers proved the feasibility of this multi‐ethnic trial. The COVID‐19 pandemic caused delays and differential recruitment rates across centers.
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- 2023
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19. Meta-analysis of (single-cell method) benchmarks reveals the need for extensibility and interoperability
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Anthony Sonrel, Almut Luetge, Charlotte Soneson, Izaskun Mallona, Pierre-Luc Germain, Sergey Knyazev, Jeroen Gilis, Reto Gerber, Ruth Seurinck, Dominique Paul, Emanuel Sonder, Helena L. Crowell, Imran Fanaswala, Ahmad Al-Ajami, Elyas Heidari, Stephan Schmeing, Stefan Milosavljevic, Yvan Saeys, Serghei Mangul, and Mark D. Robinson
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Biology (General) ,QH301-705.5 ,Genetics ,QH426-470 - Abstract
Abstract Computational methods represent the lifeblood of modern molecular biology. Benchmarking is important for all methods, but with a focus here on computational methods, benchmarking is critical to dissect important steps of analysis pipelines, formally assess performance across common situations as well as edge cases, and ultimately guide users on what tools to use. Benchmarking can also be important for community building and advancing methods in a principled way. We conducted a meta-analysis of recent single-cell benchmarks to summarize the scope, extensibility, and neutrality, as well as technical features and whether best practices in open data and reproducible research were followed. The results highlight that while benchmarks often make code available and are in principle reproducible, they remain difficult to extend, for example, as new methods and new ways to assess methods emerge. In addition, embracing containerization and workflow systems would enhance reusability of intermediate benchmarking results, thus also driving wider adoption.
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- 2023
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20. Sterile triggers drive joint inflammation in TNF‐ and IL‐1β‐dependent mouse arthritis models
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Alexandra Thiran, Ioanna Petta, Gillian Blancke, Marie Thorp, Guillaume Planckaert, Maude Jans, Vanessa Andries, Korneel Barbry, Elisabeth Gilis, Julie Coudenys, Tino Hochepied, Christian Vanhove, Eric Gracey, Emilie Dumas, Teddy Manuelo, Ivan Josipovic, Geert vanLoo, Dirk Elewaut, and Lars Vereecke
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arthritis ,germ‐free ,gut‐joint axis ,intestinal inflammation ,microbiome ,Medicine (General) ,R5-920 ,Genetics ,QH426-470 - Abstract
Abstract Arthritis is the most common extra‐intestinal complication in inflammatory bowel disease (IBD). Conversely, arthritis patients are at risk for developing IBD and often display subclinical gut inflammation. These observations suggest a shared disease etiology, commonly termed “the gut‐joint‐axis.” The clinical association between gut and joint inflammation is further supported by the success of common therapeutic strategies and microbiota dysbiosis in both conditions. Most data, however, support a correlative relationship between gut and joint inflammation, while causative evidence is lacking. Using two independent transgenic mouse arthritis models, either TNF‐ or IL‐1β dependent, we demonstrate that arthritis develops independently of the microbiota and intestinal inflammation, since both lines develop full‐blown articular inflammation under germ‐free conditions. In contrast, TNF‐driven gut inflammation is fully rescued in germ‐free conditions, indicating that the microbiota is driving TNF‐induced gut inflammation. Together, our study demonstrates that although common inflammatory pathways may drive both gut and joint inflammation, the molecular triggers initiating such pathways are distinct in these tissues.
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- 2023
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21. Clinicopathological and molecular characterization of a case classified by DNA‑methylation profiling as 'CNS embryonal tumor with BRD4–LEUTX fusion'
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Laetitia Lebrun, Sacha Allard-Demoustiez, Nathalie Gilis, Claude Van Campenhout, Marine Rodesch, Celine Roman, Pierluigi Calò, Valentina Lolli, Philippe David, Christophe Fricx, Olivier De Witte, Fabienne Escande, Claude-Alain Maurage, and Isabelle Salmon
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Brain tumor ,CNS embryonal tumor ,DNA methylation ,H3K27me3 protein expression ,BRD4 ,LEUTX ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Abstract Central Nervous System (CNS) embryonal tumors represent a heterogeneous group of highly aggressive tumors occurring preferentially in children but also described in adolescents and adults. In 2021, the CNS World Health Organization (WHO) classification drastically changed the diagnosis of the other CNS embryonal tumors including new histo-molecular tumor types. Here, we report a pediatric case of a novel tumor type among the other CNS embryonal tumors classified within the methylation class “CNS Embryonal Tumor with BRD4–LEUTX Fusion”. The patient was a 4-year girl with no previous history of disease. For a few weeks, she suffered from headaches, vomiting and mild fever associated with increasing asthenia and loss of weight leading to a global deterioration of health. MRI brain examination revealed a large, grossly well-circumscribed tumoral mass lesion located in the left parietal lobe, contralateral hydrocephalus and midline shift. Microscopic examination showed a highly cellular tumor with a polymorphic aspect. The majority of the tumor harbored neuroectodermal features composed of small cells with scant cytoplasm and hyperchromatic nuclei associated with small “medulloblastoma-like” cells characterized by syncytial arrangement and focally a streaming pattern. Tumor cells were diffusely positive for Synaptophysin, CD56, INI1 and SMARCA4 associated with negativity for GFAP, OLIG-2, EMA, BCOR, LIN28A and MIC-2. Additional IHC features included p53 protein expression in more than 10% of the tumor’s cells and very interestingly, loss of H3K27me3 expression. The Heidelberg DNA-methylation classifier classified this case as “CNS Embryonal Tumor with BRD4:LEUTX Fusion”. RNA-sequencing analyses confirmed the BRD4 (exon 13)–LEUTX (exon 2) fusion with no other molecular alterations found by DNA sequencing. Our case report confirmed that a new subgroup of CNS embryonal tumor with high aggressive potential, loss of H3K27me3 protein expression, BRDA4–LEUTX fusion, named “Embryonal CNS tumor with BRD4–LEUTX fusion”, has to be considered into the new CNS WHO classification.
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- 2023
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22. Editorial: Insights in adrenal endocrinology: 2023
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Mateusz Maciejczyk and Aleksandra Gilis-Januszewska
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adrenal endocrinology ,latest insights ,periodontitis (inflammatory) ,cortisol ,cystic fibrosis ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 - Published
- 2023
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23. Outcomes of audio-instructed and video-instructed dispatcher-assisted cardiopulmonary resuscitation: a systematic review and meta-analysis
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Karol Bielski, Bernd W. Böttiger, Michal Pruc, Aleksandra Gasecka, Mariusz Sieminski, Milosz J. Jaguszewski, Jacek Smereka, Natasza Gilis-Malinowska, Frank W. Peacock, and Lukasz Szarpak
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emergency medical dispatcher ,video-call ,cardiac arrest ,cardiopulmonary resuscitation ,systematic review ,meta-analysis ,Medicine - Abstract
Background The present meta-analysis of clinical and simulation trials aimed to compare video-instructed dispatcher-assisted bystander cardiopulmonary resuscitation (V-DACPR) with conventional audio-instructed dispatcher-assisted bystander cardiopulmonary resuscitation (C-DACPR). Methods We searched PubMed, Embase, Web of Science, Cochrane Collaboration databases and Scopus from inception until June 10, 2021. The primary outcomes were the prehospital return of spontaneous circulation (ROSC), survival to hospital discharge, and survival to hospital discharge with a good neurological outcome for clinical trials, and chest compression quality for simulation trials. Odds ratios (ORs) and mean differences (MDs) with 95% confidence intervals (CIs) indicated the pooled effect. The analyses were performed with the RevMan 5.4 and STATA 14 software. Results Overall, 2 clinical and 8 simulation trials were included in this meta-analysis. In clinical trials, C-DACPR and V-DACPR were characterised by, respectively, 11.8% vs. 24.3% of prehospital ROSC (OR = 0.46; 95% CI: 0.30, 0.69; I2 = 66%; p
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- 2022
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24. Ten years’ blindness of the right eye: A rare presentation of an orbital melanoma
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Martin Lalmand, Sarah Gilis, Alexandros Raptos, Aurelien Simon, Sara Van Brussel, and Christophe Sasserath
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Medicine (General) ,R5-920 - Abstract
Benign and malignant orbital tumours develop from the orbit or invade it from the surrounding tissues. Ocular melanoma is a rare but potentially devastating malignancy arising from the melanocytes of the uveal tract, conjunctiva, or orbit. The poor overall survival depends mainly on its high metastatic rate. Signs and symptoms are variables mainly depending on the size of the tumour. Its treatment consists generally of surgery, radiotherapy or both. We report a case of a patient suffering from unilateral blindness for the last 10 years with a recent swelling of the orbit. The pathological analysis described a uveal melanoma. The patient benefitted from a total orbital exenteration with reconstruction using a temporal flap. Thereafter, the patient received adjuvant radiotherapy and immunotherapy. The patient was in complete remission. No recurrence was highlighted after 2 years of follow-up.
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- 2023
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25. Premorbid aspirin use is not associated with lower mortality in older inpatients with SARS-CoV-2 pneumonia
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Sullerot, Coralie, Bouiller, Kevin, Laborde, Caroline, Gilis, Marine, Fèvre, Amélie, Hacquin, Arthur, Manckoundia, Patrick, Hoefler, Florence, Bermejo, Messaline, Mendes, Aline, Serratrice, Christine, Prendki, Virginie, Sanchez, Stéphane, and Putot, Alain
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- 2022
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26. Hyaluronidase 1 deficiency decreases bone mineral density in mice
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Emeline Puissant, Florentine Gilis, Virginie Tevel, Jean-Michel Vandeweerd, Bruno Flamion, Michel Jadot, and Marielle Boonen
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Medicine ,Science - Abstract
Abstract Mucopolysaccharidosis IX is a lysosomal storage disorder caused by a deficiency in HYAL1, an enzyme that degrades hyaluronic acid at acidic pH. This disease causes juvenile arthritis in humans and osteoarthritis in the Hyal1 knockout mouse model. Our past research revealed that HYAL1 is strikingly upregulated (~ 25x) upon differentiation of bone marrow monocytes into osteoclasts. To investigate whether HYAL1 is involved in the differentiation and/or resorption activity of osteoclasts, and in bone remodeling in general, we analyzed several bone parameters in Hyal1 −/− mice and studied the differentiation and activity of their osteoclasts and osteoblasts when differentiated in vitro. These experiments revealed that, upon aging, HYAL1 deficient mice exhibit reduced femur length and a ~ 15% decrease in bone mineral density compared to wild-type mice. We found elevated osteoclast numbers in the femurs of these mice as well as an increase of the bone resorbing activity of Hyal1 −/− osteoclasts. Moreover, we detected decreased mineralization by Hyal1 −/− osteoblasts. Taken together with the observed accumulation of hyaluronic acid in Hyal1 −/− bones, these results support the premise that the catabolism of hyaluronic acid by osteoclasts and osteoblasts is an intrinsic part of bone remodeling.
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- 2022
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27. Long-term outcomes following drug-eluting balloon or thin-strut drug-eluting stents for treatment of in-stent restenosis stratified by duration of dual antiplatelet therapy (DEB-Dragon Registry)
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Rafał Januszek, Jacek Bil, Natasza Gilis-Malinowska, Bartłomiej Staszczak, Tomasz Figatowski, Marek Milewski, Maksymilian Mielczarek, Łukasz Dylewski, Maciej Wybraniec, Brunon Tomasiewicz, Piotr Kübler, Tomasz Walczak, Bruno Hrymniak, Piotr Desperak, Piotr Niezgoda, Rafał Wolny, Magdalena Chudzik, Grzegorz Smolka, Dariusz Ciećwierz, Krzysztof Reczuch, Marcin Gruchała, Jacek Kubica, Robert J. Gil, Elvin Kedhi, Fabrizio D’Ascenzo, Robert Balan, Artur Pawlik, Łukasz Kuźma, Sławomir Dobrzycki, Damian Hudziak, Stanisław Bartuś, Mariusz Gąsior, Andrzej Ochała, Adam Witkowski, Miłosz Jaguszewski, Wojciech Wojakowski, and Wojciech Wańha
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drug-eluting balloon(s) ,drug-eluting stent(s) ,in-stent restenosis ,duration of dual antiplatelet therapy ,long-term outcomes. ,Medicine - Published
- 2022
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28. Hyaluronidase 1 deficiency decreases bone mineral density in mice
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Puissant, Emeline, Gilis, Florentine, Tevel, Virginie, Vandeweerd, Jean-Michel, Flamion, Bruno, Jadot, Michel, and Boonen, Marielle
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- 2022
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29. Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing
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Gustavs Latkovskis, Raimonds Rescenko-Krums, Georgijs Nesterovics, Monta Briviba, Vita Saripo, Dainus Gilis, Elizabete Terauda, Ruta Meiere, Gunda Skudrina, Andrejs Erglis, Joana Rita Chora, Mafalda Bourbon, and Janis Klovins
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familial hypercholesterolemia ,low-density lipoprotein cholesterol ,genetic study ,monogenic ,whole-genome sequencing ,registry ,Medicine - Abstract
Background: There is limited data on the genetic characteristics of patients with familial hypercholesterolemia (FH) in Latvia. We aim to describe monogenic variants in patients from the Latvian Registry of FH (LRFH). Methods: Whole genome sequencing with 30× coverage was performed in unrelated index cases from the LRFH and the Genome Database of Latvian Population. LDLR, APOB, PCSK9, LDLRAP1, ABCG5, ABCG8, LIPA, LPA, CYP27A1, and APOE genes were analyzed. Only variants annotated as pathogenic (P) or likely pathogenic (LP) using the FH Variant Curation Expert Panel guidelines for LDLR and adaptations for APOB and PCSK9 were reported. Results: Among 163 patients, the mean highest documented LDL-cholesterol level was 7.47 ± 1.60 mmol/L, and 79.1% of patients had LDL-cholesterol ≥6.50 mmol/L. A total of 15 P/LP variants were found in 34 patients (diagnostic yield: 20.9%): 14 in the LDLR gene and 1 in the APOB gene. Additionally, 24, 54, and 13 VUS were detected in LDLR, APOB, and PCSK9, respectively. No P/LP variants were identified in the other tested genes. Conclusions: Despite the high clinical likelihood of FH, confirmed P/LP variants were detected in only 20.9% of patients in the Latvian cohort when assessed with genome-wide next generation sequencing.
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- 2023
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30. Individualized medical treatment options in Cushing disease
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Aleksandra Gilis-Januszewska, Anna Bogusławska, Ewelina Rzepka, Witold Ziaja, and Alicja Hubalewska-Dydejczyk
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Cushing disease ,osilodrostat ,pasireotide ,temozolomide ,ketoconazole ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 - Abstract
Cushing disease (CD) is caused by a pituitary tumor which oversecretes adrenocorticotropic hormone (ACTH). It is a serious endocrine disease associated with increased mortality and impaired quality of life. The management of CD remains challenging. Although transsphenoidal surgery is the treatment of choice in most cases, in approximately half of CD patients, second or third-line treatment options are needed. Currently, new medical therapies are available which target adrenal steroidogenesis, pituitary somatostatin and dopamine receptors, and glucocorticoid receptors. Selection of which medication to use should be individualized and is determined by many factors including severity of the disease, possible side effects, patients preferences and local availability. The aim of this article is to describe currently available medical therapy to help clinicians individualize the treatment options in the context of recently updated Pituitary Society recommendations.
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- 2022
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31. Urinary proteomics combined with home blood pressure telemonitoring for health care reform trial: rational and protocol
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Lutgarde Thijs, Kei Asayama, Gladys E. Maestre, Tine W. Hansen, Luk Buyse, Dong-Mei Wei, Jesus D. Melgarejo, Jana Brguljan-Hitij, Hao-Min Cheng, Fabio de Souza, Natasza Gilis-Malinowska, Kalina Kawecka-Jaszcz, Carina Mels, Gontse Mokwatsi, Elisabeth S. Muxfeldt, Krzysztof Narkiewicz, Augustine N. Odili, Marek Rajzer, Aletta E. Schutte, Katarzyna Stolarz-Skrzypek, Yi-Wen Tsai, Thomas Vanassche, Raymond Vanholder, Zhen-Yu Zhang, Peter Verhamme, Ruan Kruger, Harald Mischak, Jan A. Staessen, The UPRIGHT-HTM Investigators, Coordinating, Logistic, Recruiting, and, Urinary Proteomics Centres,, and Advisors
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chronic kidney disease ,diabetic nephropathy ,home blood pressure telemonitoring ,hypertension ,left ventricular function ,type-2 diabetes mellitus ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Background Hypertension and diabetes cause chronic kidney disease (CKD) and diastolic left ventricular dysfunction (DVD) as forerunners of disability and death. Home blood pressure telemonitoring (HTM) and urinary peptidomic profiling (UPP) are technologies enabling prevention. Methods UPRIGHT-HTM (Urinary Proteomics Combined with Home Blood Pressure Telemonitoring for Health Care Reform [NCT04299529]) is an investigator-initiated 5-year clinical trial with patient-centred design, which will randomise 1148 patients to be recruited in Europe, sub-Saharan Africa and South America. During the whole study, HTM data will be collected and freely accessible for patients and caregivers. The UPP, measured at enrolment only, will be communicated early during follow-up to 50% of patients and their caregivers (intervention), but only at trial closure in 50% (control). The hypothesis is that early knowledge of the UPP risk profile will lead to more rigorous risk factor management and result in benefit. Eligible patients, aged 55–75 years old, are asymptomatic, but have ≥5 CKD- or DVD-related risk factors, preferably including hypertension, type-2 diabetes, or both. The primary endpoint is a composite of new-onset intermediate and hard cardiovascular and renal outcomes. Demonstrating that combining UPP with HTM is feasible in a multicultural context and defining the molecular signatures of early CKD and DVD are secondary endpoints. Expected outcomes The expected outcome is that application of UPP on top of HTM will be superior to HTM alone in the prevention of CKD and DVD and associated complications and that UPP allows shifting emphasis from treating to preventing disease, thereby empowering patients.
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- 2021
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32. Life-threatening intracranial subdural hematoma following spinal surgery: A case report
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Julien Spitaels, Mouhssine Assamadi, Nathalie Gilis, Sophie Elands, Salim El Hadwe, and Olivier De Witte
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Kernohan notch phenomenon ,Acute subdural hematoma ,Cerebrospinal fluid leak ,Lumbar surgery ,Surgery ,RD1-811 ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Introduction: We report a case of a Kernohan notch phenomenon caused by an acute life-threatening intracranial subdural hematoma due to a cerebrospinal fluid (CSF) leak following lumbar surgery. Case report: A 71-year-old patient underwent decompressive lumbar surgery for refractory neurogenic claudication. Intraoperatively, a dural tear was noted and repaired. Two days later, the patient presented a sudden loss of consciousness following a CSF outflow in the subfascial lumbar drain. A head CT revealed an acute intracranial subdural hematoma with mass effect. A craniotomy was performed to evacuate the hematoma. The lumbar operative site was inspected and revealed a CSF leakage due to a dural defect which was subsequently repaired. The patient subsequently developed a Kernohan's notch phenomenon which partially recovered after two months of rehabilitation. Conclusion: We report a rare and dramatic case of Kernohan notch phenomenon due to an acute intracranial subdural hematoma occurring in the setting of a CSF leak following lumbar spine surgery. This case demonstrates the need to be aware of this potentially fatal complication after spine surgery and the importance of early diagnosis and appropriate treatment.
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- 2022
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33. satuRn: Scalable analysis of differential transcript usage for bulk and single-cell RNA-sequencing applications [version 2; peer review: 2 approved]
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Koen Van den Berge, Kristoffer Vitting-Seerup, Jeroen Gilis, and Lieven Clement
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RNA-seq ,single-cell transcriptomics ,splicing ,differential transcript usage ,statistical framework ,satuRn ,eng ,Medicine ,Science - Abstract
Alternative splicing produces multiple functional transcripts from a single gene. Dysregulation of splicing is known to be associated with disease and as a hallmark of cancer. Existing tools for differential transcript usage (DTU) analysis either lack in performance, cannot account for complex experimental designs or do not scale to massive single-cell transcriptome sequencing (scRNA-seq) datasets. We introduce satuRn, a fast and flexible quasi-binomial generalized linear modelling framework that is on par with the best performing DTU methods from the bulk RNA-seq realm, while providing good false discovery rate control, addressing complex experimental designs, and scaling to scRNA-seq applications.
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- 2022
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34. Adrenal bleeding due to pheochromocytoma - A call for algorithm
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Ewelina Rzepka, Joanna Kokoszka, Anna Grochowska, Magdalena Ulatowska-Białas, Martyna Lech, Marta Opalińska, Elwira Przybylik-Mazurek, Aleksandra Gilis-Januszewska, and Alicja Hubalewska-Dydejczyk
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pheochromocytoma ,hemorrhage ,adrenal ,bleeding ,diagnosis ,treatment ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 - Abstract
BackgroundAdrenal hemorrhage is a rare, usually life-threating complication. The most common neoplasm resulting in spontaneous adrenal bleeding is pheochromocytoma and it accounts for nearly 50% of cases. Currently, the recommendations for the diagnosis and management of patients with adrenal bleeding due to pheochromocytoma are unavailable.Materials and methodsWe performed a database search for all pheochromocytoma patients, diagnosed and treated from 2005 to 2021 in tertiary endocrinology center. 206 patients were identified, 183 with complete data were included in the analysis. We investigated clinicopathological characteristics, treatment and outcomes of hemorrhagic pheochromocytoma cases and characterize our approach to perioperative diagnosis and medical management. Finally our experiences and data from previously published articles concerning adrenal hemorrhage were analyzed to propose a diagnostic and therapeutic algorithm for hemorrhagic pheochromocytomas.ResultsIn the whole group, seven patients (4 men and 3 women) with adrenal bleeding were found, (3.8%). Median patient’s age was 49 years (range: 36-78 years). The most common manifestation of adrenal bleeding was acute abdominal pain (5/7). Two patients developed shock. Hormonal assessment was performed in five patients, based on 24-hour urinary fractionated metanephrines with urinary 3-methoxytyramine. Normetanephrine was elevated in all patients, metanephrine and 3-methoxytyramine - in four cases (4/5). Most patients (6/7) had symptoms suggesting pheochromocytoma before hemorrhage – most commonly paroxysmal hypertension (4/7). One patient died, before the diagnosis of adrenal bleeding was made. Diagnostic imaging performed in six out of seven patients revealed adrenal tumor, with median largest diameter equal to 7.4 cm (range: 5-11 cm). Five patients had elective surgery, in one case an urgent surgery was performed. In all cases the diagnosis of pheochromocytoma was confirmed in postoperative histopathology or in autopsy. The perioperative survival rate was 85.7%.ConclusionsDiagnosis of pheochromocytoma should be always considered in patients with adrenal bleeding, especially with accompanying abdominal pain, hemodynamic shock and previous history of pheochromocytoma-associated symptoms. Lack of proper diagnosis of pheochromocytoma before surgery is associated with an additional perioperative risk. To improve the decision making in this life-threatening clinical situation, based on our results and literature data, we proposed a diagnostic and treatment algorithm.
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- 2022
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35. Gut microbiota diversity after autologous fecal microbiota transfer in acute myeloid leukemia patients
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Florent Malard, Anne Vekhoff, Simona Lapusan, Francoise Isnard, Evelyne D’incan-Corda, Jérôme Rey, Colombe Saillard, Xavier Thomas, Sophie Ducastelle-Lepretre, Etienne Paubelle, Marie-Virginie Larcher, Clément Rocher, Christian Recher, Suzanne Tavitian, Sarah Bertoli, Anne-Sophie Michallet, Lila Gilis, Pierre Peterlin, Patrice Chevallier, Stéphanie Nguyen, Emilie Plantamura, Lilia Boucinha, Cyrielle Gasc, Mauricette Michallet, Joel Dore, Ollivier Legrand, and Mohamad Mohty
- Subjects
Science - Abstract
The combination of chemotherapy and broad-spectrum antibiotics induces gut microbiota (GM) dysbiosis in acute myeloid leukaemia (AML) leading to additional complications. Here, the authors report the efficacy in GM restoration and safety of autologous faecal microbiota transfer in treated AML patients in a phase II clinical trial.
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- 2021
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36. Malignancy predicts short‐term mortality in Takotsubo: insights from a meta‐analysis of 125 359 patients
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Alicja Genc, Natasza Gilis‐Malinowska, Piotr Kasprzyk, Aleksandra Gasecka, Adrian Perdyan, Justyna Kacperczyk, Marcin Fijalkowski, Marcin Gruchala, Lukasz Szarpak, Kamil Safiejko, Krzysztof J. Filipiak, Dagmara Hering, and Milosz Jaguszewski
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Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Published
- 2021
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37. Unexpected presentation of diabetes insipidus following pineal tumor resection: A case report
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Elly Chaskis, Nathalie Gilis, Pascale Chasseur, Chiara Mabiglia, France Devuyst, and Olivier De Witte
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Central diabetes insipidus ,Pineal tumor ,Papillary tumor ,Surgery ,RD1-811 ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Background: Neuroendocrine dysfunction is a common complication of several neurosurgical conditions. In particular, central diabetes insipidus (CDI) can occur subsequent to traumatic brain injury, subarachnoid hemorrhage, cerebral tumors or as a result of a complication following pituitary neurosurgery. In contrast, surgical resection of non-sellar tumors does not commonly result in CDI, with only a few cases reported in the literature. Case description: We report the case of a 40-year-old man who presented a transient CDI following surgical resection of a pineal papillary tumor via an occipital interhemispheric trans-tentorial approach. The underlying pathogenesis of CDI occurring post resection of tumors arising at a distance from the sella is not yet clearly understood, especially since there is no evidence of direct compression of the pituitary stalk. With regards to our case, we hypothesize that restauration of the initial obstructive hydrocephalus might induce a rapid intracranial pressure variation leading to hemodynamics changes of the portal hypophyseal vascular system. Postoperative air entrapment in the sellar region might also lead to irritation of the pituitary stalk. Conclusion: This case highlights that CDI may happen as a consequence of pineal tumor resection and advocates for a careful postoperative monitoring.
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- 2022
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38. Reduction in the Risk of Peripheral Neuropathy and Lower Decrease in Kidney Function with Metformin, Linagliptin or Their Fixed-Dose Combination Compared to Placebo in Prediabetes: A Randomized Controlled Trial
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Rafael Gabriel, Nisa Boukichou-Abdelkader, Aleksandra Gilis-Januszewska, Konstantinos Makrilakis, Ricardo Gómez-Huelgas, Zdravko Kamenov, Bernhard Paulweber, Ilhan Satman, Predrag Djordjevic, Abdullah Alkandari, Asimina Mitrakou, Nebojsa Lalic, Jesús Egido, Sebastián Más-Fontao, Jean Henri Calvet, José Carlos Pastor, Jaana Lindström, Marcus Lind, Tania Acosta, Luis Silva, Jaakko Tuomilehto, and on behalf of the e-PREDICE Consortium
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prediabetes ,peripheral neuropathy risk ,glomerular filtration ,antidiabetic drugs ,lifestyle intervention ,Medicine - Abstract
Objective: To compare the effect of glucose-lowering drugs on peripheral nerve and kidney function in prediabetes. Methods: Multicenter, randomized, placebo-controlled trial in 658 adults with prediabetes treated for 1 year with metformin, linagliptin, their combination or placebo. Endpoints are small fiber peripheral neuropathy (SFPN) risk estimated by foot electrochemical skin conductance (FESC < 70 μSiemens) and estimated glomerular filtration rate (eGFR). Results: Compared to the placebo, the proportion of SFPN was reduced by 25.1% (95% CI:16.3–33.9) with metformin alone, by 17.3% (95% CI 7.4–27.2) with linagliptin alone, and by 19.5% (95% CI 10.1–29.0) with the combination linagliptin/metformin (p < 0.0001 for all comparisons). eGFR remained +3.3 mL/min (95% CI: 0.38–6.22) higher with the combination linagliptin/metformin than with the placebo (p = 0.03). Fasting plasma glucose (FPG) decreased more with metformin monotherapy −0.3 mmol/L (95%CI: −0.48; 0.12, p = 0.0009) and with the combination metformin/linagliptin −0.2 mmol/L (95% CI: −0.37; −0.03) than with the placebo (p = 0.0219). Body weight (BW) decreased by −2.0 kg (95% CI: −5.65; −1.65, p = 0.0006) with metformin monotherapy, and by −1.9 kg (95% CI: −3.02; −0.97) with the combination metformin/linagliptin as compared to the placebo (p = 0.0002). Conclusions: in people with prediabetes, a 1 year treatment with metformin and linagliptin, combined or in monotherapy, was associated with a lower risk of SFPN, and with a lower decrease in eGFR, than treatment with placebo.
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- 2023
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39. Consumer preferences and sensory characteristics of eggs from family farms
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Jeniffer Berkhoff, Christian Alvarado-Gilis, Juan Pablo Keim, José Antonio Alcalde, Einar Vargas-Bello-Pérez, and Mónica Gandarillas
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farm egg ,family farming ,consumer egg preference ,egg sensory characteristic ,Animal culture ,SF1-1100 - Abstract
The objective of this study was to evaluate consumer habits as well as the sensory perception and characteristics of farm eggs produced in Los Ríos, Chile. Data were collected from an online survey of 197 respondents and a sensory evaluation carried out by 30 untrained panelists of 4 types of eggs (brown-shell and blue-shell eggs acquired from family farms, free-range eggs acquired from large, industrial systems, and white-shell cage eggs from industrial, cage systems.) To evaluate differences and preferences, data were analyzed in a GLM. In addition, sensory evaluation was analyzed using principal component analysis. In accordance with the survey, 99% of the participants eat eggs (P < 0.001), 58% eat 1 to 3 eggs/wk, and 84% declared to consume eggs at home ( 0.05) in the evaluated parameters. There was a consequence in the information given from surveyed consumers and the sensory panel with the yolk color.
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- 2020
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40. Class I/Class II HLA Evolutionary Divergence Ratio Is an Independent Marker Associated With Disease-Free and Overall Survival After Allogeneic Hematopoietic Stem Cell Transplantation for Acute Myeloid Leukemia
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Anne-Marie Daull, Valérie Dubois, Hélène Labussière-Wallet, Fabienne Venet, Fiorenza Barraco, Sophie Ducastelle-Lepretre, Marie-Virginie Larcher, Marie Balsat, Lila Gilis, Gaëlle Fossard, Hervé Ghesquières, Maël Heiblig, Florence Ader, and Vincent Alcazer
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acute myeloid leukemia ,hematopoietic (stem) cell transplantation (HCT) ,HLA Evolutionary divergence ,graft-versus-host disease (GVHD) ,graft-versus-leukemia (GVL) ,immune reconstitution ,Immunologic diseases. Allergy ,RC581-607 - Abstract
Class I Human Leukocyte Antigen (HLA) evolutionary divergence (HED) is a metric which reflects immunopeptidome diversity and has been associated with immune checkpoint inhibitor responses in solid tumors. Its impact and interest in allogeneic hematopoietic stem cell transplantation (HCT) have not yet been thoroughly studied. This study analyzed the clinical and immune impact of class I and II HED in 492 acute myeloid leukemia (AML) recipients undergoing HCT. The overall cohort was divided into a training (n=338) and a testing (n=132) set. Univariate cox screening found a positive impact of a high class I HED and a negative impact of a high class II HED on both disease-free (DFS) and overall survival (OS). These results were combined in a unique marker, class I/class II HED ratio, and assessed in the testing cohort. The final multivariate cox model confirmed the positive impact of a high versus low class I/class II HED ratio on both DFS (Hazard Ratio (HR) 0.41 [95% CI 0.2-0.83]; p=0.01) and OS (HR 0.34 [0.19-0.59]; p
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- 2022
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41. Challenges in management of giant prolactinoma in a young man.
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Komisarz-Calik, Maria, Zieliński, Grzegorz, Hubalewska-Dydejczyk, Alicja, and Gilis-Januszewska, Aleksandra
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- 2024
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42. Complete remission of hypercortisolemia in a patient with severe ectopic Cushing syndrome caused by small-cell lung cancer.
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Gamrat, Aleksandra, Rzepka, Ewelina, Ciszek, Karol, Wysocki, Piotr J., Hubalewska-Dydejczyk, Alicja, and Gilis-Januszewska, Aleksandra
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- 2024
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43. Gut microbiota diversity after autologous fecal microbiota transfer in acute myeloid leukemia patients
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Malard, Florent, Vekhoff, Anne, Lapusan, Simona, Isnard, Francoise, D’incan-Corda, Evelyne, Rey, Jérôme, Saillard, Colombe, Thomas, Xavier, Ducastelle-Lepretre, Sophie, Paubelle, Etienne, Larcher, Marie-Virginie, Rocher, Clément, Recher, Christian, Tavitian, Suzanne, Bertoli, Sarah, Michallet, Anne-Sophie, Gilis, Lila, Peterlin, Pierre, Chevallier, Patrice, Nguyen, Stéphanie, Plantamura, Emilie, Boucinha, Lilia, Gasc, Cyrielle, Michallet, Mauricette, Dore, Joel, Legrand, Ollivier, and Mohty, Mohamad
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- 2021
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44. An unusual diagnostic route: Pediatric case of a mesencephalic cavernoma presenting as cluster headache
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Nathalie Gilis, Christophe Fricx, Valentina Lolli, and Olivier De Witte
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Pediatric cluster headache ,Secondary cluster headache ,Brainstem cavernoma ,Surgery ,RD1-811 ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Cluster headaches are characterized by painful unilateral periorbital attacks accompanied by dysautonomic symptoms. Although cluster headaches are classified as a primary headache disorder, a few cases of inflammatory, vascular or neoplastic conditions have been reported to cause or mimic cluster headaches. This raises the question as to the possible causal relationship between symptoms and an underlying structural lesion that may potentially interfere with the trigemino-autonomic reflex.We hereby report the first pediatric case of a brainstem cavernoma causing cluster headache-like symptoms. Of note, the child experienced pain relief after surgery.With regards to the pathophysiology, the observed ptosis observed in our child during the painful crises might be explained by mass effect of the cavernorma on the cisternal portion of the third cranial nerve. In addition, chronic inflammation of mesencephalic and motor nuclei of the trigeminal nerve by thalamo-pedoncular edema surrounding the lesion may have participated to painful pathways.This case illustrates that cluster headaches may occasionally be secondary to an underlying lesion. This advocates the need for MRI screening, especially as neurosurgical intervention may offer significant symptomatic relief and an improvement in the quality of life of these patients.
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- 2021
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45. Challenges in the management of caudal duplication syndrome
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Laine Bekere, Ainars Gilis, Zane Abola, and Lasma Lidaka
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Caudal duplication syndrome ,Double vulva ,Double urinary bladder ,Reconstructive surgery ,Pediatrics ,RJ1-570 ,Surgery ,RD1-811 - Abstract
Caudal duplication syndrome (CDS) is a rare developmental anomaly in which embryonic cloaca and notochord structures are duplicated [1]. Due to the diverse clinical manifestation and rarity of CDS, it is crucial to report every case and to share experience and outcomes of individually adjusted management plans.We report here the case of a 2-year-old girl born with duplication of the urogenital (bladder, urethra, uterus, vagina, vulva) and gastrointestinal (gallbladder, appendix vermiformis) systems. Additionally, coccygeal agenesis, lipomyelomeningocele and vertical talus were present. A thorough examination and urological reconstructive surgery were performed.While there may be a desire from patients, parents and healthcare specialists to modify all malformations to an anatomically correct state, the current opinion is that only anatomical variants that influence function should be modified. Consent from patients should be sought for decisions regarding more sensitive matters such as vulva surgery for cosmetic reasons or correction of anatomical variants without functional consequences.
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- 2021
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46. Clinical Approach to Neuroendocrine Neoplasm Associated With Ovarian Teratoma
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Marta Opalińska, Anna Sowa-Staszczak, Helena Olearska, Magdalena Ulatowska-Bialas, Aleksandra Gilis-Januszewska, and Alicja Hubalewska-Dydejczyk
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NET ,teratoma ,ovary tumor ,neuroendocrine tumors ,ovarian carcinoid ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 - Abstract
BackgroundNeuroendocrine neoplasms are a heterogeneous group of cancers that develop from enterochromaffin cells of the diffuse endocrine system, with an increase in incidents over the last years. Ovarian neuroendocrine tumors (NET) are rare neoplasms, comprising 0.1% of all ovarian neoplasms and less than 5% of all neuroendocrine tumors. They may arise alone (as monodermal, specialized teratoma – ovarian carcinoid) or as a part of other ovarian lesion: cystic mature or immature teratomas. Due to the rarity and limited amount of such cases reported in the literature, there is no consensus on diagnostic and therapeutic procedures in this group of patients.Materials and MethodsThe group of 10 patients at the age of 19 to 77 years (mean 42.8 ± 17.9), diagnosed with unilateral NET within ovarian teratoma were analyzed. The histopathological type of tumor, progression free survival after surgical treatment and presence of hormonally active syndrome were assessed.Results70% (n=7) of patients was diagnosed with mature cystic teratomas containing NET component and 30% (n=3) with monodermal teratoma (strumal carcinoid). All cases of monodermal teratomas were found in women at premenopausal age. Determined Ki67 ranged from 2% to 9%. Ninety percent of lesions (n=9) stained positive for synaptophysin and chromogranin, while markers: CK20, CK7, TTF-1 and CDX2 were negative in all cases, which ruled out their metastatic nature. None of the patients presented with carcinoid syndrome. All followed-up patients remain progression-free, which confirms surgical intervention being a crucial and sufficient method of treatment.ConclusionsThe prognosis and clinical behavior of NETs associated with ovarian teratomas are good with long progression-free survival.
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- 2021
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47. New Screening Tool for Aortic Root Dilation in Children with Marfan Syndrome and Marfan-Like Disorders
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Wozniak-Mielczarek, Lidia, Sabiniewicz, Robert, Nowak, Radosław, Gilis-Malinowska, Natasza, Osowicka, Michalina, and Mielczarek, Maksymilian
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- 2020
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48. Pregnancy, thyroid, and the potential use of selenium
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Hubalewska-Dydejczyk, Alicja, Duntas, Leonidas, and Gilis-Januszewska, Aleksandra
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- 2020
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49. Hemodynamic Performance of Two Current-Generation Transcatheter Heart Valve Prostheses in Severely Calcified Aortic Valve Stenosis
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Max Potratz, Kawa Mohemed, Hazem Omran, Lasha Gortamashvili, Kai Peter Friedrichs, Werner Scholtz, Smita Scholtz, Volker Rudolph, Cornelia Piper, Tomasz Gilis-Januszewski, René Schramm, Nobuyuki Furukawa, Jan Gummert, Sabine Bleiziffer, and Tanja Katharina Rudolph
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TAVI ,calcification ,balloon-expandable ,self-expandable ,Medicine - Abstract
Background: Treatment of severely calcified aortic valve stenosis is associated with a higher rate of paravalvular leakage (PVL) and permanent pacemaker implantation (PPI). We hypothesized that the self-expanding transcatheter heart valve (THV) prostheses Evolut Pro (EPro) is comparable to the balloon-expandable Sapien 3 (S3) regarding hemodynamics, PPI, and clinical outcome in these patients. Methods: From 2014 to 2019, all patients with very severe calcification of the aortic valve who received an EPro or an S3 THV were included. Propensity score matching was utilized to create two groups of 170 patients. Results: At discharge, there was significant difference in transvalvular gradients (EPro vs. S3) (dPmean 8.1 vs. 11.1 mmHg, p ≤ 0.001) and indexed effective orifice area (EOAi) (1.1 vs. 0.9, p ≤ 0.001), as well as predicted EOAi (1 vs. 0.9, p ≤ 0.001). Moderate patient prosthesis mismatch (PPM) was significantly lower in the EPro group (17.7% vs. 38%, p ≤ 0.001), as well as severe PPM (2.9% vs. 8.8%, p = 0.03). PPI and the PVL rate as well as stroke, bleeding, vascular complication, and 30-day mortality were comparable. Conclusions: In patients with severely calcified aortic valves, both THVs performed similarly in terms of 30-day mortality, PPI rate, and PVL occurrence. However, patient prothesis mismatch was observed more often in the S3 group, which might be due to the intra-annular design.
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- 2022
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50. Introduction to the EQIPD quality system
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Anton Bespalov, René Bernard, Anja Gilis, Björn Gerlach, Javier Guillén, Vincent Castagné, Isabel A Lefevre, Fiona Ducrey, Lee Monk, Sandrine Bongiovanni, Bruce Altevogt, María Arroyo-Araujo, Lior Bikovski, Natasja de Bruin, Esmeralda Castaños-Vélez, Alexander Dityatev, Christoph H Emmerich, Raafat Fares, Chantelle Ferland-Beckham, Christelle Froger-Colléaux, Valerie Gailus-Durner, Sabine M Hölter, Martine CJ Hofmann, Patricia Kabitzke, Martien JH Kas, Claudia Kurreck, Paul Moser, Malgorzata Pietraszek, Piotr Popik, Heidrun Potschka, Ernesto Prado Montes de Oca, Leonardo Restivo, Gernot Riedel, Merel Ritskes-Hoitinga, Janko Samardzic, Michael Schunn, Claudia Stöger, Vootele Voikar, Jan Vollert, Kimberley E Wever, Kathleen Wuyts, Malcolm R MacLeod, Ulrich Dirnagl, and Thomas Steckler
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nonregulated research ,drug discovery ,research rigor ,Medicine ,Science ,Biology (General) ,QH301-705.5 - Abstract
While high risk of failure is an inherent part of developing innovative therapies, it can be reduced by adherence to evidence-based rigorous research practices. Supported through the European Union’s Innovative Medicines Initiative, the EQIPD consortium has developed a novel preclinical research quality system that can be applied in both public and private sectors and is free for anyone to use. The EQIPD Quality System was designed to be suited to boost innovation by ensuring the generation of robust and reliable preclinical data while being lean, effective and not becoming a burden that could negatively impact the freedom to explore scientific questions. EQIPD defines research quality as the extent to which research data are fit for their intended use. Fitness, in this context, is defined by the stakeholders, who are the scientists directly involved in the research, but also their funders, sponsors, publishers, research tool manufacturers, and collaboration partners such as peers in a multi-site research project. The essence of the EQIPD Quality System is the set of 18 core requirements that can be addressed flexibly, according to user-specific needs and following a user-defined trajectory. The EQIPD Quality System proposes guidance on expectations for quality-related measures, defines criteria for adequate processes (i.e. performance standards) and provides examples of how such measures can be developed and implemented. However, it does not prescribe any pre-determined solutions. EQIPD has also developed tools (for optional use) to support users in implementing the system and assessment services for those research units that successfully implement the quality system and seek formal accreditation. Building upon the feedback from users and continuous improvement, a sustainable EQIPD Quality System will ultimately serve the entire community of scientists conducting non-regulated preclinical research, by helping them generate reliable data that are fit for their intended use.
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- 2021
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