Results 111 to 120 of about 27,030 (251)

Precision medicine in paediatrics: Progress and priorities

British Journal of Clinical Pharmacology, EarlyView.
Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain, Claire Booth, Joseph F. Standing, Charlotte I. S. Barker   +3 more
wiley   +1 more source

Extreme late onset of genetic generalized epilepsy in older adults and the elderly: A cohort study and literature review. [PDF]

Epilepsia Open, 2023
Alzahrany M, Punia V.
europepmc   +1 more source

Case‐malformed signal detection and prioritisation using EUROmediCAT data for pharmacovigilance in pregnancy

British Journal of Clinical Pharmacology, EarlyView.
Aim Many women take medications during pregnancy. However, the risk to the fetus from most medications is uncertain. Congenital anomalies are one of the leading causes of infant death and contribute to long‐term disability. Signal detection methods can be used to systematically identify possible medication–anomaly associations that require further ...
Hannah Johnson, Helen Dolk, Maria Loane, Christine Damase‐Michel, Joanne Given, Hedvig Nordeng, Jorieke E. H. Bergman, Iain Carey, Elly Den Hond, Ester Garne, Florence Rouget, Lea Bruneau, Isabelle Monier, Anke Rissmann, Mary O'Mahony, Miriam Gatt, Renée Lutke, Joanna Sichitiu, Elisa Ballardini, Alessio Coi, Clara Cavero Carbonell, David Tucker, Joan Morris   +22 more
wiley   +1 more source

Genetic Generalized Epilepsy and Intrafamilial Phenotypic Variability with Distal 7q11.23 Deletion. [PDF]

Child Neurol Open, 2022
Birca V, Myers KA.
europepmc   +1 more source

HLA‐B*15:21 carrier status is a susceptibility factor of carbamazepine‐induced nonimmediate cutaneous adverse reactions in HLA‐B*15:02‐negative patients: A retrospective cohort study

British Journal of Clinical Pharmacology, EarlyView.
After HLA‐B*15:02 screening, the residual risk of carbamazepine‐induced nonimmediate cutaneous adverse reactions is 0.059. Among these HLA‐B*15:02‐negative cases, HLA‐B*15:11 and HLA‐B*15:21 carrier status significantly increases the risk of carbamazepine‐induced nonimmediate cADR.
Warit Ruanglertboon, Chutima Seree‐aphinan, Antida Sangiemchoey, Khwanchanok Kaewpiboon, Taweesak Maneerot, Oradawan Plong‐on, Pornsiri Sangmanee, Punthipa Nichanon, Jariya Khayman, Jiraphan Manee, Areerat Hnoonual, Kanoot Jaruthamsophon   +11 more
wiley   +1 more source

Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic MAP2K1 variant: a case report

Frontiers in Genetics
Cardiofaciocutaneous syndrome (CFC) is a rare genetic disorder that presents with cardiac, craniofacial, and cutaneous symptoms, and is often accompanied by neurological abnormalities, including neurodevelopmental disorders and epilepsy.
Rie Tsuburaya-Suzuki, Rie Tsuburaya-Suzuki, Sachiko Ohori, Kohei Hamanaka, Atsushi Fujita, Naomichi Matsumoto, Masako Kinoshita   +6 more
doaj   +1 more source

Generalized Fast Discharges Along the Genetic Generalized Epilepsy Spectrum: Clinical and Prognostic Significance. [PDF]

Front Neurol, 2022
Cerulli Irelli E, Barone FA, Mari L, Morano A, Orlando B, Salamone EM, Marchi A, Fanella M, Fattouch J, Placidi F, Giallonardo AT, Izzi F, Di Bonaventura C.   +12 more
europepmc   +1 more source

Exploring the early observations of parents supporting their children with school attendance problems (SAPs): A co‐produced study

British Educational Research Journal, EarlyView.
Abstract School Attendance Problems (SAPs) represent a significant challenge requiring early identification and intervention. Current service provision often does not recognise early indicators that parents observe, creating gaps between when initial concerns are raised and formal support is provided.
Tereza Aidonopoulou‐Read, Michelle Pyer, Beth Bodycote, Jackie Campbell, Kirsteen Pyer   +4 more
wiley   +1 more source

Exploring Healthcare Continuity in Pediatric‐Onset Multiple Sclerosis in the United States

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Little is known about shifting from pediatric to adult‐focused multiple sclerosis (MS) care. This study aims to explore transition of care and follow‐up in the US pediatric‐onset MS (POMS) population. Methods Surveys were distributed to 10 sites in the US Network of Pediatric MS Centers (US NPMSC) about transition‐of‐care practices ...
Aaron W. Abrams, Michael Waltz, Jonathan Race, T. Charles Casper, Claudia Gambrah‐Lyles, Kimberly O'Neill, Akash Virupakshaiah, Kristen S. Fisher, Melissa A. Wright, Kelsey E. Poisson, Eva‐Chava M. Bernfeld, Gregory Aaen, Leslie A. Benson, Tanuja Chitnis, Carla Francisco, Grace Y. Gombolay, Mark P. Gorman, Jennifer S. Graves, Lauren Krupp, Timothy E. Lotze, Soe Mar, Jayne Ness, Mary Rensel, Moses Rodriguez, Teri Schreiner, Nikita Shukla, Jan‐Mendelt Tillema, Bianca Weinstock‐Guttman, Yolanda Wheeler, Emmanuelle Waubant, John Rose, US Network of Pediatric MS Centers   +31 more
wiley   +1 more source

Coexistence of Genetic Generalized Epilepsy and Temporal Lobe Epilepsy

International Journal of Epilepsy, 2023
Kheta Ram Sharma, Naman Agarwal, Smahita Panda, Sarbesh Tiwari   +3 more
openaire   +1 more source