Results 161 to 170 of about 168,324 (311)

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F‐box domain

Epilepsia Open, EarlyView.
Abstract The FBXW7 gene encodes a substrate‐recognition component of the Skp1‐Cul1‐F‐box (SCF) E3 ubiquitin ligase complex, which targets key regulatory proteins for proteasomal degradation. Recently, loss‐of‐function FBXW7 variants have been associated with a novel neurodevelopmental disorder characterized by heterogeneous clinical features.
Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, Francesca Madia, Maria Margherita Mancardi, Stefania Fornarino, Luca Bosisio, Zahra Hoseini Tavassol, Mir Davood Omrani, Federico Zara, Marcello Scala   +10 more
wiley   +1 more source

Sialidosis type I: How to alleviate disabling myoclonic seizures?—A multicenter analysis of eight cases and review of the literature

Epilepsia Open, EarlyView.
Abstract Objective Sialidosis type I (ST‐1) is an autosomal‐recessive, very rare, progressive lysosomal storage disorder caused by pathogenic variants in NEU1. It is clinically characterized by progressive ataxia, myoclonic seizures (MS), bilateral tonic–clonic seizures (BTCS), and distinctive ophthalmological findings.
Janina Gburek‐Augustat, I‐Chun Lee, Marica Rubino, Vehap Topçu, Melissa Chavez‐Castillo, Shao Ching Tu, Marwan Shinawi, Isabel Alfradique‐Dunham, Manouela Valtcheva, Astrid Adarmes‐Gómez, Daniel Macias‐Garcia, Laura Laura Muñoz‐Delgado, Silvia Jesús, Pablo Mir, Andreas Merkenschlager, Antonietta Coppola   +15 more
wiley   +1 more source

"Ser alguém na vida": uma análise sócio-antropológica da gravidez/maternidade na adolescência, em Belém do Pará, Brasil

Cadernos de Saúde Pública
Tendo como universo de análise um grupo de jovens de camadas populares de Belém do Pará, este estudo traz para debate a questão da gravidez/maternidade na adolescência com base em uma perspectiva sócio-antropológica.
Ana Lídia Nauar Pantoja
doaj  

Longest survivor of pulmonary atresia with ventricular septal defect without surgical intervention

ESC Heart Failure, Volume 12, Issue 2, Page 1499-1507, April 2025.
Sang Zhou, Yu Wu, Guoran Li, Yongwen Qin, Man Qi, Zhitao Jin   +5 more
wiley   +1 more source

Tracking Glucose Trends, Unveiling Clinical Patterns: Insights From Continuous Glucose Monitoring in Patients at the Extreme of BMI and Eating Disorders Psychopathology

European Eating Disorders Review, EarlyView.
ABSTRACT Objective Disturbances of glucose homoeostasis are claimed to act as both a consequence and maintaining factor in eating disorders (EDs). This study explored glucose trends and their association with real‐time food intake and self‐report eating psychopathology in a sample of patients with anorexia nervosa (AN) and binge‐eating disorder (BED ...
Marianna Rania, Concetta Irace, Raffaella Sacco, Mariateresa Bevacqua, Elvira Anna Carbone, Antonio Cutruzzolà, Maria Chiara Pelle, Franco Arturi, Cristina Segura‐Garcia   +8 more
wiley   +1 more source

Temporal Trends in the Epidemiology of Eating Disorders Between 2000 and 2022: A Danish Register Study of Their Incidence and Comorbidities

European Eating Disorders Review, EarlyView.
ABSTRACT Background Eating disorders are debilitating illnesses that often co‐occur with other psychiatric disorders and somatic diseases. Evidence indicates that the incidence of eating disorders has been increasing. We first examine the landscape of EDs over time, including the COVID‐19 period, via assessing the incidence of anorexia nervosa (AN ...
Nadia Micali, Helena L. Davies, Heidi Jeannet Graff, Laust H. Mortensen, Emilie R. Hegelund   +4 more
wiley   +1 more source

Teacher‐Led Universal Eating Disorder Prevention Programmes in Schools: A Scoping Review

European Eating Disorders Review, EarlyView.
ABSTRACT Objective This scoping review seeks to evaluate the efficacy of teacher‐led interventions in mitigating risk factors related to eating disorders, considering the necessity for universal prevention programmes that can be effectively administered by educators.
Jessica Parker, Lauren Makin, Karina Allen, Kate Tchanturia   +3 more
wiley   +1 more source

Adolescência e reprodução no Brasil: a heterogeneidade dos perfis sociais

Cadernos de Saúde Pública
Neste estudo, estimou-se a prevalência de gravidez na adolescência (GA), em Salvador, Rio de Janeiro e Porto Alegre, analisando-se o perfil de quem engravida e seus parceiros e os resultados da gestação.
Estela M. L. Aquino, Maria Luiza Heilborn, Daniela Knauth, Michel Bozon, Maria da Conceição Almeida, Jenny Araújo, Greice Menezes   +6 more
doaj  

Parental and Peer Relationships and Their Impact on Symptom Severity in Adolescent Patients With Anorexia Nervosa

European Eating Disorders Review, EarlyView.
ABSTRACT Objective Perceived parental relationship characteristics, such as maternal overprotection, rejection or neglect, and peer victimisation, are suggested to be more common in patients with anorexia nervosa (AN) than in healthy controls. This study compares parental and peer relationships in adolescent patients with AN to those in a clinical ...
Armita Tschitsaz, Andrea M. Schumacher, Stefan Lerch, Andrea Wyssen, Marialuisa Cavelti, Ines Mürner‐Lavanchy, Julian Koenig, Michael Kaess, Franziska Schlensog‐Schuster   +8 more
wiley   +1 more source