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How to apply the movement disorder society criteria for diagnosis of progressive supranuclear palsy.
Max-Joseph Grimm, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Leslie Ferguson, Ellen Gelpi, Armin Giese, Murray Grossman, David J Irwin, Alexander Pantelyat, Alex Rajput, Sigrun Roeber, John C van Swieten, Claire Troakes, Angelo Antonini, Kailash P Bhatia, Carlo Colosimo, Thilo van Eimeren, Jan Kassubek, Johannes Levin, Wassilios G Meissner, Christer Nilsson, Wolfgang H Oertel, Ines Piot, Werner Poewe, Gregor K Wenning, Adam Boxer, Lawrence I Golbe, Keith A Josephs, Irene Litvan, Huw R Morris, Jennifer L Whitwell, Yaroslau Compta, Jean-Christophe Corvol, Anthony E Lang, James B Rowe, Günter U Höglinger, Movement Disorder Society-endorsed PSP Study Group
Jan 24, 2020
BACKGROUND: The Movement Disorder Society criteria for progressive supranuclear palsy define diagnostic allocations, stratified by certainty levels and clinical predominance types. We aimed to study the frequency of ambiguous...
A Modified Progressive Supranuclear Palsy Rating Scale.
Marie-Therese Grötsch, Gesine Respondek, Carlo Colosimo, Yaroslau Compta, Jean Christophe Corvol, Joaquim Ferreira, Meret Koroni Huber, Martin Klietz, Lea FM Krey, Johannes Levin, Milica Jecmenica-Lukic, Daniel Macías-García, Wassilios G Meissner, Pablo Mir, Huw Morris, Christer Nilsson, James B Rowe, Klaus Seppi, Maria Stamelou, John C van Swieten, Gregor Wenning, Teodoro del Ser, Lawrence I Golbe, Günter U Höglinger, the ProPSP Study Group, and the Movement Disorder Society-Endorsed PSP Study Group Describe PSP Study Group
Jan 26, 2021
BACKGROUND: The Progressive Supranuclear Palsy Rating Scale is a prospectively validated physician-rated measure of disease severity for progressive supranuclear palsy. We hypothesized that, according to experts' opinion...
Validation of the movement disorder society criteria for the diagnosis of 4-repeat tauopathies.
Gesine Respondek, Max-Joseph Grimm, Ines Piot, Thomas Arzberger, Yaroslau Compta, Elisabet Englund, Leslie W Ferguson, Ellen Gelpi, Sigrun Roeber, Armin Giese, Murray Grossman, David J Irwin, Wassilios G Meissner, Christer Nilsson, Alexander Pantelyat, Alex Rajput, John C van Swieten, Claire Troakes, Günter U Höglinger, Movement Disorder Society-Endorsed Progressive Supranuclear Palsy Study Group
Oct 31, 2019
BACKGROUND: The Movement Disorder Society criteria for progressive supranuclear palsy introduced the category "probable 4-repeat (4R)-tauopathy" for joint clinical diagnosis of progressive supranuclear palsy and corticobasal...
Clinical Conditions "Suggestive of Progressive Supranuclear Palsy"-Diagnostic Performance.
Max-Joseph Grimm, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Leslie Ferguson, Ellen Gelpi, Armin Giese, Murray Grossman, David J Irwin, Alexander Pantelyat, Alex Rajput, Sigrun Roeber, John C van Swieten, Claire Troakes, Wassilios G Meissner, Christer Nilsson, Ines Piot, Yaroslau Compta, James B Rowe, Günter U Höglinger, Movement Disorder Society-endorsed PSP Study Group
Sep 10, 2020
BACKGROUND: The Movement Disorder Society diagnostic criteria for progressive supranuclear palsy introduced the diagnostic certainty level "suggestive of progressive supranuclear palsy" for clinical conditions with subtle signs...
Radiological biomarkers for diagnosis in PSP
Jennifer L Whitwell, Günter U Höglinger, Angelo Antonini, Yvette Bordelon, Adam L Boxer, Carlo Colosimo, Thilo van Eimeren, Lawrence I Golbe, Jan Kassubek, Carolin Kurz, Irene Litvan, Alexander Pantelyat, Gil Rabinovici, Gesine Respondek, Axel Rominger, James B Rowe, Maria Stamelou, Keith A Josephs, Movement Disorder Society-endorsed PSP Study Group
Nov 23, 2017
PSP is a pathologically defined neurodegenerative tauopathy with a variety of clinical presentations including typical Richardson's syndrome and other variant PSP syndromes. A large body of neuroimaging research has been...
The role of high-field magnetic resonance imaging in parkinsonian disorders
S Lehericy, DE Vaillancourt, K Seppi, O Monchi, I Rektorova, A Antonini, MJ McKeown, M Masellis, D Berg, JB Rowe, SJG Lewis, CH Williams-Gray, A Tessitore, HR Siebner, International Parkinson and Movement Disorder Society (IPMDS)-Neuroimaging Study Group
May 01, 2017
Primary post-transplant lymphoproliferative disorder of the central nervous system
Mary M Taj, Britta Maecker-Kolhoff, Rebecca Ling, Simon Bomken, Birgit Burkhardt, Alan KS Chiang, Monika Csoka, Anna Füreder, Stéphanie Haouy, Jelena Lazic, Natalia Miakova, Veronique Minard-Colin, Suzanne D Turner, Anne Uyttebroeck, Andishe Attarbaschi, the international Berlin-Frankfurt-Münster (i-BFM) Study Group European Intergroup for Childhood Non-Hodgkin’s Lymphoma (EICNHL)
Feb 17, 2021
Primary central nervous system (CNS) post-transplant lymphoproliferative disorder (PTLD) in childhood is rare. Twenty-five patients were retrieved from nine European Intergroup for Childhood Non-Hodgkin's Lymphoma and/or...
Central Nervous System outcome post-transplant lymphoproliferative disorder transplant Treatment Adolescent Adult Allografts Brain Neoplasms Child Child Preschool Disease-Free Survival Female Hematopoietic Stem Cell Transplantation Humans Infant Injections Spinal Lymphoproliferative Disorders Male Organ Transplantation Rituximab Survival Rate
Clinical diagnosis of progressive supranuclear palsy
Günter U Höglinger, Gesine Respondek, Maria Stamelou, Carolin Kurz, Keith A Josephs, Anthony E Lang, Brit Mollenhauer, Ulrich Müller, Christer Nilsson, Jennifer L Whitwell, Thomas Arzberger, Elisabet Englund, Ellen Gelpi, Armin Giese, David J Irwin, Wassilios G Meissner, Alexander Pantelyat, Alex Rajput, John C van Swieten, Claire Troakes, Angelo Antonini, Kailash P Bhatia, Yvette Bordelon, Yaroslau Compta, Jean-Christophe Corvol, Carlo Colosimo, Dennis W Dickson, Richard Dodel, Leslie Ferguson, Murray Grossman, Jan Kassubek, Florian Krismer, Johannes Levin, Stefan Lorenzl, Huw R Morris, Peter Nestor, Wolfgang H Oertel, Werner Poewe, Gil Rabinovici, James B Rowe, Gerard D Schellenberg, Klaus Seppi, Thilo van Eimeren, Gregor K Wenning, Adam L Boxer, Lawrence I Golbe, Irene Litvan, Movement Disorder Society-endorsed PSP Study Group
Jun 05, 2017
Pituitary Society Delphi Survey
Nicholas A Tritos, Pouneh K Fazeli, Ann McCormack, Susana M Mallea-Gil, Maria M Pineyro, Mirjam Christ-Crain, Stefano Frara, Artak Labadzhyan, Adriana G Ioachimescu, Ilan Shimon, Yutaka Takahashi, Mark Gurnell, Maria Fleseriu, “Pituitary Society Delphi Collaborative Group”
Sep 24, 2021
PURPOSE: In adults and children, transsphenoidal surgery (TSS) represents the cornerstone of management for most large or functioning sellar lesions with the exception of prolactinomas. Endocrine evaluation and management are an...
Cross-phenotype analysis of Immunochip data identifies KDM4C as a relevant locus for the development of systemic vasculitis.
Lourdes Ortiz-Fernández, Francisco David Carmona, Raquel López-Mejías, Maria Francisca González-Escribano, Paul A Lyons, Ann W Morgan, Amr H Sawalha, Peter A Merkel, Kenneth GC Smith, Miguel A González-Gay, Javier Martín, UK GCA Consortium, Turkish Takayasu Study Group, Vasculitis Clinical Research Consortium, IgAV Study Group, AAV Study group Spanish GCA Study Group
Apr 18, 2018
OBJETIVE: Systemic vasculitides represent a heterogeneous group of rare complex diseases of the blood vessels with a poorly understood aetiology. To investigate the shared genetic component underlying their predisposition, we...
Autoantibodies outcomes research systemic sclerosis Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis Case-Control Studies Epigenesis Genetic Female Genetic Loci Genetic Predisposition to Disease Giant Cell Arteritis HLA-DQ Antigens HLA-DQ beta-Chains Humans Jumonji Domain-Containing Histone Demethylases Linkage Disequilibrium Male Phenotype Polymorphism Single Nucleotide Protein Array Analysis Systemic Vasculitis Takayasu arteritis
Pituitary Society Delphi Survey
Nicholas A Tritos, Pouneh K Fazeli, Ann McCormack, Susana M Mallea-Gil, Maria M Pineyro, Mirjam Christ-Crain, Stefano Frara, Artak Labadzhyan, Adriana G Ioachimescu, Ilan Shimon, Yutaka Takahashi, Mark Gurnell, Maria Fleseriu, “Pituitary Society Delphi Collaborative Group”
Feb 07, 2022
PURPOSE: In adults and children, transsphenoidal surgery (TSS) represents the cornerstone of management for most large or functioning sellar lesions with the exception of prolactinomas. Endocrine evaluation and management are an...
Improving National and International Surveillance of Movement Behaviours in Childhood and Adolescence
John J Reilly, Rachel Andrew, Chalchisa Abdeta, Liane B Azevedo, Nicolas Aguilar Farias, Sharon Barak, Farid Bardid, Bruno Bizzozero-Peroni, Javier Brazo-Sayavera, Jonathan Y Cagas, Mohamed-Souhaiel Chelly, Lars B. Christiansen, Visnja D Djordjic, Catherine E. Draper, Asmaa El-Hamdouchi, Elie-Jacques Fares, Aleš Gába, Kylie D Hesketh, Mohammad Sorowar Hossain, Wendy Huang, Alejandra Jáuregui, Sanjay K Juvekar, Nicholas Kuzik, Richard Larouche, Eun-Young Lee, Sharon Levi, Yang Liu, Marie Löf, Tom Loney, Jose Francisco Lopez Gil, Evelin Mäestu, Taru Manyanga, Clarice Martins, Maria Mendoza-Muñoz, Shawnda A Morrison, Nyaradzai Munambah, Tawonga W Mwase-Vuma, Rowena Naidoo, Reginald Ocansey, Anthony D Okely, Aoko Oluwayomi, Susan Paudel, Bee Koon Poh, Evelyn H Ribeiro, Diego Augusto Santos Silva, Mohd Razif Shahril, Melody Smith, Amanda E Staiano, Martyn Standage, Narayan Subedi, Chiaki Tanaka, Hong K Tang, David Thivel, Mark S Tremblay, Edin Uzicanin, Dimitris Vlachopoulos, E Kipling Webster, Dyah Anantalia Widyastari, Pawel Zembura, Salome Aubert
Oct 03, 2024
BACKGROUND: The actions required to achieve higher-quality and harmonised global surveillance of child and adolescent movement behaviours (physical activity, sedentary behaviour including screen time, sleep) are...
Improving National and International Surveillance of Movement Behaviours in Childhood and Adolescence
John J Reilly, Rachel Andrew, Chalchisa Abdeta, Liane B Azevedo, Nicolas Aguilar Farias, Sharon Barak, Farid Bardid, Bruno Bizzozero-Peroni, Javier Brazo-Sayavera, Jonathan Y Cagas, Mohamed-Souhaiel Chelly, Lars B. Christiansen, Visnja D Djordjic, Catherine E. Draper, Asmaa El-Hamdouchi, Elie-Jacques Fares, Aleš Gába, Kylie D Hesketh, Mohammad Sorowar Hossain, Wendy Huang, Alejandra Jáuregui, Sanjay K Juvekar, Nicholas Kuzik, Richard Larouche, Eun-Young Lee, Sharon Levi, Yang Liu, Marie Löf, Tom Loney, Jose Francisco Lopez Gil, Evelin Mäestu, Taru Manyanga, Clarice Martins, Maria Mendoza-Muñoz, Shawnda A Morrison, Nyaradzai Munambah, Tawonga W Mwase-Vuma, Rowena Naidoo, Reginald Ocansey, Anthony D Okely, Aoko Oluwayomi, Susan Paudel, Bee Koon Poh, Evelyn H Ribeiro, Diego Augusto Santos Silva, Mohd Razif Shahril, Melody Smith, Amanda E Staiano, Martyn Standage, Narayan Subedi, Chiaki Tanaka, Hong K Tang, David Thivel, Mark S Tremblay, Edin Uzicanin, Dimitris Vlachopoulos, E Kipling Webster, Dyah Anantalia Widyastari, Pawel Zembura, Salome Aubert
Oct 03, 2024
BACKGROUND: The actions required to achieve higher-quality and harmonised global surveillance of child and adolescent movement behaviours (physical activity, sedentary behaviour including screen time, sleep) are...
Which ante mortem clinical features predict progressive supranuclear palsy pathology?
Gesine Respondek, Carolin Kurz, Thomas Arzberger, Yaroslau Compta, Elisabet Englund, Leslie W Ferguson, Ellen Gelpi, Armin Giese, David J Irwin, Wassilios G Meissner, Christer Nilsson, Alexander Pantelyat, Alex Rajput, John C van Swieten, Claire Troakes, Keith A Josephs, Anthony E Lang, Brit Mollenhauer, Ulrich Müller, Jennifer L Whitwell, Angelo Antonini, Kailash P Bhatia, Yvette Bordelon, Jean-Christophe Corvol, Carlo Colosimo, Richard Dodel, Murray Grossman, Jan Kassubek, Florian Krismer, Johannes Levin, Stefan Lorenzl, Huw Morris, Peter Nestor, Wolfgang H Oertel, Gil D Rabinovici, James B Rowe, Thilo van Eimeren, Gregor K Wenning, Adam Boxer, Lawrence I Golbe, Irene Litvan, Maria Stamelou, Günter U Höglinger, Movement Disorder Society-endorsed PSP Study Group
Mar 22, 2018
BACKGROUND: Progressive supranuclear palsy (PSP) is a neuropathologically defined disease presenting with a broad spectrum of clinical phenotypes. OBJECTIVE: To identify clinical features and investigations that predict or...
The British Society for Rheumatology guideline for the management of systemic lupus erythematosus in adults.
Caroline Gordon, Maame-Boatemaa Amissah-Arthur, Mary Gayed, Sue Brown, Ian N Bruce, David D'Cruz, Benjamin Empson, Bridget Griffiths, David Jayne, Munther Khamashta, Liz Lightstone, Peter Norton, Yvonne Norton, Karen Schreiber, David Isenberg, Audit and
Guidelines Working Group British Society for Rheumatology Standards
Feb 13, 2020
The British Society for Rheumatology guideline for the management of systemic lupus erythematosus in adults.
The British Society for Rheumatology guideline for the management of systemic lupus erythematosus in adults
Caroline Gordon, Maame-Boatemaa Amissah-Arthur, Mary Gayed, Sue Brown, Ian N Bruce, David D'Cruz, Benjamin Empson, Bridget Griffiths, David Jayne, Munther Khamashta, Liz Lightstone, Peter Norton, Yvonne Norton, Karen Schreiber, David Isenberg, Audit and
Guidelines Working Group British Society for Rheumatology Standards
Feb 13, 2020
The British Society for Rheumatology guideline for the management of systemic lupus erythematosus in adults: Executive Summary.
Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel–Lindau Disease
Hugh Furness, Louay Salfity, Johanna Devereux, Dorothy Halliday, Helen Hanson, Deborah M. Ruddy, UK VHL Study Group UK VHL Study Group, Neha Shah, George Sultana, Emma R. Woodward, Richard N. Sandford, Katie M. Snape, Eamonn R. Maher
Sep 17, 2021
Haemangioblastomas are rare, highly vascularised tumours that typically occur in the cerebellum, brain stem and spinal cord. Up to a third of individuals with a haemangioblastoma will have von Hippel–Lindau (VHL) disease....
Consensus summary statement of the International Multidisciplinary Consensus Conference on Multimodality Monitoring in Neurocritical Care
Peter Le Roux, David K Menon, Giuseppe Citerio, Paul Vespa, Mary Kay Bader, Gretchen M Brophy, Michael N Diringer, Nino Stocchetti, Walter Videtta, Rocco Armonda, Neeraj Badjatia, Julian Böesel, Randall Chesnut, Sherry Chou, Jan Claassen, Marek Czosnyka, Michael De Georgia, Anthony Figaji, Jennifer Fugate, Raimund Helbok, David Horowitz, Peter Hutchinson, Monisha Kumar, Molly McNett, Chad Miller, Andrew Naidech, Mauro Oddo, DaiWai Olson, Kristine O'Phelan, J Javier Provencio, Corinna Puppo, Richard Riker, Claudia Robertson, Michael Schmidt, Fabio Taccone, Neurocritical Care Society, European Society of Intensive Care Medicine
Jan 09, 2019
Neurocritical care depends, in part, on careful patient monitoring but as yet there are little data on what processes are the most important to monitor, how these should be monitored, and whether monitoring these processes is...
Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers
Lieske H Schrijver, Antonis C Antoniou, Håkan Olsson, Thea M Mooij, Marie-José Roos-Blom, Leyla Azarang, Julian Adlard, Munaza Ahmed, Daniel Barrowdale, Rosemarie Davidson, Alan Donaldson, Ros Eeles, D Gareth Evans, Debra Frost, Alex Henderson, Louise Izatt, Kai-Ren Ong, Valérie Bonadona, Isabelle Coupier, Laurence Faivre, Jean-Pierre Fricker, Paul Gesta, Klaartje van Engelen, Agnes Jager, Fred H Menko, Marian JE Mourits, Christian F Singer, Yen Y Tan, Lenka Foretova, Marie Navratilova, Rita K Schmutzler, Carolina Ellberg, Anne-Marie Gerdes, Trinidad Caldes, Jacques Simard, Edith Olah, Anna Jakubowska, Johanna Rantala, Ana Osorio, John L Hopper, Kelly-Anne Phillips, Roger L Milne, Mary Beth Terry, Catherine Noguès, Christoph Engel, Karin Kast, David E Goldgar, Flora E van Leeuwen, Douglas F Easton, Nadine Andrieu, Matti A Rookus, Gene Etude Prospective Sein Ovaire Sein, Hereditary Breast and Ovarian Cancer Research Group Netherlands, and International BRCA1/2 Carrier Cohort Study Epidemiological Study of Familial Breast Cancer
Apr 21, 2021
BACKGROUND: Ovarian cancer risk in BRCA1 and BRCA2 mutation carriers has been shown to decrease with longer duration of oral contraceptive use. Although the effects of using oral contraceptives in the general population are well...
Epidemiological Study of Familial Breast Cancer Gene Etude Prospective Sein Ovaire Sein Hereditary Breast and Ovarian Cancer Research Group Netherlands and International BRCA1/2 Carrier Cohort Study Humans Ovarian Neoplasms Genetic Predisposition to Disease Contraceptives Oral BRCA1 Protein BRCA2 Protein Proportional Hazards Models Retrospective Studies Cohort Studies Follow-Up Studies Mutation Adult Middle Aged Europe Female
STXBP1-associated neurodevelopmental disorder
BACKGROUND: De novo loss of function mutations in STXBP1 are a relatively common cause of epilepsy and intellectual disability (ID). However, little is known about the types and severities of behavioural features associated with...
Expert appraisal of criteria for assessing gaming disorder
Jesús Castro-Calvo, Daniel L King, Dan J Stein, Matthias Brand, Lior Carmi, Samuel R Chamberlain, Zsolt Demetrovics, Naomi A Fineberg, Hans-Jürgen Rumpf, Murat Yücel, Sophia Achab, Atul Ambekar, Norharlina Bahar, Alexander Blaszczynski, Henrietta Bowden-Jones, Xavier Carbonell, Elda Mei Lo Chan, Chih-Hung Ko, Philippe de Timary, Magali Dufour, Marie Grall-Bronnec, Hae Kook Lee, Susumu Higuchi, Susana Jimenez-Murcia, Orsolya Király, Daria J Kuss, Jiang Long, Astrid Müller, Stefano Pallanti, Marc N Potenza, Afarin Rahimi-Movaghar, John B Saunders, Adriano Schimmenti, Seung-Yup Lee, Kristiana Siste, Daniel T Spritzer, Vladan Starcevic, Aviv M Weinstein, Klaus Wölfling, Joël Billieux
Aug 02, 2021
BACKGROUND AND AIMS: Following the recognition of 'internet gaming disorder' (IGD) as a condition requiring further study by the DSM-5, 'gaming disorder' (GD) was officially included as a diagnostic entity by the World Health...
Embracing Monogenic Parkinson's Disease
Eva-Juliane Vollstedt, Susen Schaake, Katja Lohmann, Shalini Padmanabhan, Alexis Brice, Suzanne Lesage, Christelle Tesson, Marie Vidailhet, Isabel Wurster, Faycel Hentati, Anat Mirelman, Nir Giladi, Karen Marder, Cheryl Waters, Stanley Fahn, Meike Kasten, Norbert Brüggemann, Max Borsche, Tatiana Foroud, Eduardo Tolosa, Alicia Garrido, Grazia Annesi, Monica Gagliardi, Maria Bozi, Leonidas Stefanis, Joaquim J Ferreira, Leonor Correia Guedes, Micol Avenali, Simona Petrucci, Lorraine Clark, Ekaterina Y Fedotova, Natalya Y Abramycheva, Victoria Alvarez, Manuel Menéndez-González, Silvia Jesús Maestre, Pilar Gómez-Garre, Pablo Mir, Andrea Carmine Belin, Caroline Ran, Chin-Hsien Lin, Ming-Che Kuo, David Crosiers, Zbigniew K Wszolek, Owen A Ross, Joseph Jankovic, Kenya Nishioka, Manabu Funayama, Jordi Clarimon, Caroline H Williams-Gray, Marta Camacho, Mario Cornejo-Olivas, Luis Torres-Ramirez, Yih-Ru Wu, Guey-Jen Lee-Chen, Ana Morgadinho, Teeratorn Pulkes, Pichet Termsarasab, Daniela Berg, Gregor Kuhlenbäumer, Andrea A Kühn, Friederike Borngräber, Giuseppe de Michele, Anna De Rosa, Alexander Zimprich, Andreas Puschmann, George D Mellick, Jolanta Dorszewska, Jonathan Carr, Rosangela Ferese, Stefano Gambardella, Bruce Chase, Katerina Markopoulou, Wataru Satake, Tatsushi Toda, Malco Rossi, Marcelo Merello, Timothy Lynch, Diana A Olszewska, Shen-Yang Lim, Azlina Ahmad-Annuar, Ai Huey Tan, Bashayer Al-Mubarak, Hasmet Hanagasi, Dariusz Koziorowski, Sibel Ertan, Gençer Genç, Patricia de Carvalho Aguiar, Melinda Barkhuizen, Marcia MG Pimentel, Rachel Saunders-Pullman, Bart van de Warrenburg, Susan Bressman, Mathias Toft, Silke Appel-Cresswell, Anthony E Lang, Matej Skorvanek, Agnita JW Boon, Rejko Krüger, Esther M Sammler, Vitor Tumas, Bao-Rong Zhang, Gaetan Garraux, Sun Ju Chung, Yun Joong Kim, Juliane Winkelmann, Carolyn M Sue, Eng-King Tan, Joana Damásio, Péter Klivényi, Vladimir S Kostic, David Arkadir, Mika Martikainen, Vanderci Borges, Jens Michael Hertz, Laura Brighina, Mariana Spitz, Oksana Suchowersky, Olaf Riess, Parimal Das, Brit Mollenhauer, Emilia M Gatto, Maria Skaalum Petersen, Nobutaka Hattori, Ruey-Meei Wu, Sergey N Illarioshkin, Enza Maria Valente, Jan O Aasly, Anna Aasly, Roy N Alcalay, Avner Thaler, Matthew J Farrer, Kathrin Brockmann, Jean-Christophe Corvol, Christine Klein, MJFF Global Genetic Parkinson's Disease Study Group
Jan 24, 2023
BACKGROUND: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the...
Assessment of venous hemodynamics and volume homeostasis during pregnancy
Venous hemodynamics and volume homeostasis are important aspects of cardiovascular physiology. However, today their relevance is still very much underappreciated. Their most important role is maintenance and control of venous...
maternal hemodynamics plasma volume Pregnancy venous hemodynamics venous return volume homeostasis Blood Flow Velocity cardiac output Cardiovascular Physiological Phenomena Consensus Development Conferences as Topic Female Guidelines as Topic Hemodynamics Homeostasis Humans Maternal Health Pregnancy Pregnancy Complications Cardiovascular Prenatal Diagnosis Uterine Artery
Surveillance recommendations for DICER1 pathogenic variant carriers
Jette J Bakhuizen, Helen Hanson, Karin van der Tuin, Fiona Lalloo, Marc Tischkowitz, Karin Wadt, Marjolijn CJ Jongmans, SIOPE Host Genome Working Group, CanGene-CanVar Clinical Guideline Working Group, Expert Network Members
Oct 01, 2021
DICER1 syndrome is a rare genetic disorder that predisposes to a wide spectrum of tumors. Developing surveillance protocols for this syndrome is challenging because uncertainty exists about the clinical efficacy of surveillance...
Gestational diabetes
Ponnusamy Saravanan, Diabetes in Pregnancy Working Group, Maternal Medicine Clinical Study Group, UK Royal College of Obstetricians and Gynaecologists
Apr 30, 2021
Gestational diabetes, the most common medical disorder in pregnancy, is defined as glucose intolerance resulting in hyperglycaemia that begins or is first diagnosed in pregnancy. Gestational diabetes is associated with increased...
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