Results 91 to 100 of about 7,269 (167)

Integrated Phytochemical Characterisation, Pharmacological Evaluation and Computational Investigation of Acampe papillosa Stem Extract

Analytical Science Advances, Volume 7, Issue 2, December 2026.
The pharmacological potential of the methanolic stem extract of Acampe papillosa is evaluated using in vivo and in silico approaches. The extract demonstrates significant anxiolytic, sedative, anti‐inflammatory, and antipyretic activities in experimental models, while molecular docking supports the observed biological effects through favorable ...
Qurratul Ain Sadia, Sadia Tamanna Tamim, Faruq Mohammed Tashriq, Nasir Uddin, Fatematus Zhohara Alam Hima, Ulfat Sobha Surat, Mily Khastagir, Muhammad Abdul Jalil, Md. Hossain Rasel, Arman Ullah Rafi, S. M. Moazzem Hossen   +10 more
wiley   +1 more source

Pitfalls in diagnosing and long‐term management of ceroid lipofuscinosis NCL4A in a mixed‐breed dog

Veterinary Record Case Reports, Volume 14, Issue 4, November 2026.
Abstract An 8‐year‐old, spayed, female, mixed‐breed dog was presented with a 9‐month history of occasionally stumbling on walks, having difficulty navigating stairs and jumping into the car. A prior computed tomography scan of the head revealed mild leptomeningeal enhancement and suggested meningoencephalitis.
Ingeborg Hein, Ines Heinreich, Florian Willmitzer, Marion Mucha   +3 more
wiley   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2338-2344, October 2026.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Clinical features and CACNA1A gene mutation in a family with episodic ataxia type 2. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban, 2022
Xu Y, Wang Z, Sun Q, Zhou L, Xu H, Hu Y.
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Rosemary metabolite carnosic acid opens Kv1.1 via its voltage sensor and corrects Kv1.1‐linked episodic ataxia in mice

British Journal of Pharmacology, Volume 183, Issue 20, Page 6179-6198, October 2026.
Background and Purpose Episodic ataxia type 1 (EA1) is an autosomal dominant neurological disorder caused primarily by loss‐of‐function mutations in the voltage‐gated potassium channel Kv1.1 (KCNA1). Small molecules that restore Kv1.1 activity hold promise as targeted therapies for EA1, yet current pharmacological strategies remain limited ...
Rían W. Manville, Ryan F. Yoshimura, Hanh A. Nguyen, Ruiming Zhao, Derk J. Hogenkamp, Steve A. N. Goldstein, Geoffrey W. Abbott   +6 more
wiley   +1 more source

Cannabidiol in Adults With Lennox–Gastaut Syndrome: Real‐World Experience

European Journal of Neurology, Volume 33, Issue 10, October 2026.
Cannabidiol showed sustained effectiveness and good tolerability in adults with LGS, with high retention over a median follow‐up of 41 months. Treatment was associated with improvement in seizure burden, increased seizure‐free days, fewer seizure‐related hospital admissions, and caregiver‐reported improvement in cognitive and behavioural functioning ...
Pyae Aung, Debbie Miller, Emily Sewell, Laura Mantoan Ritter, Evangelia Theochari, Ioannis Stavropoulos, Robert Delamont, Mark P. Richardson, Joel S. Winston, Lina Nashef   +9 more
wiley   +1 more source

Response to equine cardiac adverse events during sports

Equine Veterinary Education, Volume 38, Issue 10, Page 556-564, October 2026.
Summary Cardiac adverse events and sudden death are a feared scenario for equine veterinarians, with serious consequences for animal health, riders' safety and the social licence to operate equestrian sports. The response to equine cardiac adverse events (CAEs) during sports is poorly defined.
C. Navas de Solis, J. Keen, A. Decloedt, B. Delvescovo, K. Hopster, K. Mitchell, J. Slack, G. van Loon, G. Van Steenkiste, L. Nath   +9 more
wiley   +1 more source

Potential of Thermoset Polyolefins for FRP Concrete Reinforcing Bars

Polymer Composites, Volume 47, Issue 18, Page 16155-16176, 20 September 2026.
Overview of XLPO and pDCPD resins for FRP reinforcing bars, highlighting resin chemistry, key performance characteristics, fiber sizing interactions, and principal degradation mechanisms in concrete environments. ABSTRACT Although thermoset polyolefins offer resistance to hydrolytic degradation and favorable processing characteristics, their potential ...
Osama Omar, Farzaneh Mahmoudi, Leonidas G. Bachas, Francisco De Caso, Brahim Benmokrane, Antonio Nanni   +5 more
wiley   +1 more source