Results 181 to 190 of about 35,482 (247)

Seventh Åland Island Meeting on von Willebrand Disease

Haemophilia, EarlyView.
ABSTRACT Introduction The seventh Åland Island Meeting on von Willebrand Disease (VWD) was held on the Åland archipelago in Finland, from 26 to 28 September 2024. Aim The meeting brought together experts in the field of VWD from around the world to share the latest advances and knowledge in VWD.
Riitta Lassila, Ruben Bierings, Nathan T. Connell, Fernando F. Corrales‐Medina, Augusto B. Federici, Veronica H. Flood, Floor Heubel‐Moenen, Jill M. Johnsen, Geoffrey Kuppens, Davide Matino, Carolyn Millar, Ingmar Schoen, Anish Sharda, Robert F. Sidonio Jr, Alok Srivastava, Timea Szanto, Angela C. Weyand, Erik Berntorp   +17 more
wiley   +1 more source

Possibilities and limitations of antisense oligonucleotide therapies for the treatment of monogenic disorders. [PDF]

Commun Med (Lond)
Lauffer MC, van Roon-Mom W, Aartsma-Rus A, N = 1 Collaborative.   +3 more
europepmc   +1 more source

Australian clinical practice guideline: diagnosis and treatment of idiopathic multicentric Castleman disease

Internal Medicine Journal, EarlyView.
Abstract Idiopathic multicentric Castleman disease (iMCD) is a rare condition. The pathogenesis is incompletely understood; however, interleukin‐6 (IL‐6) is a major mediator. The clinical presentation is heterogeneous, from mild constitutional symptoms to severe multi‐organ failure.
Dipti Talaulikar, Jun Yen Ng, Adam Bryant, Annmarie Bosco, Hugh C. Caterson, Pratyush Giri, Pravin Hissaria, Simon J. Harrison, Stephen Lade, Connull Leslie, Jacinta Perram, H. Miles Prince, Dejan Radeski, Maureen Rischmueller, Craig Wallington‐Gates, Nicholas Weber, Alberta Hoi   +16 more
wiley   +1 more source

When to consider an inborn error of immunity: clues for physicians

Internal Medicine Journal, EarlyView.
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley   +1 more source

Sudomotor dysfunction in people with type 1 diabetes with and without clinical peripheral neuropathy: A study from Pune, India

Journal of Diabetes Investigation, EarlyView.
ABSTRACT Background and Aims It is appreciated that current screening tools for diabetic peripheral neuropathy (DPN) often fail to detect early disease. Sudomotor (sweat gland) dysfunction, among the earliest manifestations of DPN, can be measured objectively by the SUDOSCAN® device. We compared SUDOSCAN® with conventional validated screening (Michigan
Rohan Shah, Rishikesh Behere, Aboli Bhalerao, Sanat Phatak, Alma Baptist, Chinmay S. Marathe, Chittaranjan S. Yajnik   +6 more
wiley   +1 more source

Effects of ovarian stimulation on embryo euploidy: an analysis of 12 874 oocytes and 3106 blastocysts in cycles with preimplantation genetic testing for monogenic disorders. [PDF]

Hum Reprod Open
Ma C, Long X, Yan L, Zhu X, Chen L, Li R, Wang Y, Qiao J.   +7 more
europepmc   +1 more source

Young People With Type 2 Diabetes Are Under‐Represented in Randomized Clinical Trials

Diabetes, Obesity and Metabolism, EarlyView.
Bowei Yu, Juliana C. N. Chan, Andrea O. Y. Luk, Hongjiang Wu   +3 more
wiley   +1 more source

Darier disease—A review highlighting new insights from the Darier Disease International Task Force

Journal of the European Academy of Dermatology and Venereology, EarlyView.
This review provides a global, clinically focused overview of DD, detailing cutaneous and extracutaneous manifestations, disease classification and severity scoring. It emphasizes early recognition, multidisciplinary management and practical guidance for dermatologists to apply evidence‐based care in diverse skin phototypes. Abstract Darier disease (DD)
Sofia Labbouz, Alain Hovnanian, Grace Xiong, Dedee Frances Murrell, Simon M. Mueller, Khaled Ezzedine, Nessa Aghazadeh Mohandesi, Ahmed Salem Aldhaheri, Nissim Asayag, Eulalia Baselga, Chen Nadler, Keith Choate, Chia‐Yu Chu, John Robert Edminister, Emmanuella Guenova, Melis Gönülal, Antoni Gostynski, Ankan Gupta, Lalit Kumar Gupta, Juliette Mazereeuw‐Hautier, Wolfram Hoetzenecker, Peter Itin, Marek Jankowski, Akiharu Kubo, Haur Yueh Lee, Julia Scott Lehman, Anfisa Lepekhova, Márta Medvecz, Jemima E. Mellerio, Verena Moosbrugger‐Martinz, Amy S. Paller, Dóra Plázár, Amadeu José Rodrigues Queiróz, Josep Riera‐Monroig, Ralph Rosa, Matthias Schmuth, Maella Severino Freire, Itzhak Shabat, Jonathan Shapiro, Cory L. Simpson, Diego Soto‐García, Alexander J. Stratigos, Gianluca Abel Tadini, Takuya Takeichi, Kaushal K. Verma, Jakob D. Wikström, Alexander Zink, Michael Ziv, Alexander Navarini, Roni Pircha Dodiuk‐Gad   +49 more
wiley   +1 more source

Development of pre-implantation genetic testing protocol for monogenic disorders (PGT-M) of Hb H disease. [PDF]

BMC Genomics
Somboonchai P, Charoenkwan P, Piyamongkol S, Lattiwongsakorn W, Pantasri T, Piyamongkol W.   +5 more
europepmc   +1 more source

Autonomic Function in Fragile X Syndrome: A Systematic Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Fragile X syndrome (FXS) is a monogenic X‐linked cause of intellectual disability and autism. Individuals with FXS often have high levels of anxiety and sometimes display challenging behaviours. Autonomic dysfunction has been suggested to be one physiological mechanism that may contribute to these.
Sydni Weissgold, Sarah E. A. Eley, Damien Wright, Andrew G. McKechanie, Andrew C. Stanfield   +4 more
wiley   +1 more source