Results 151 to 160 of about 152,711 (286)

Infantile Spasms Consensus Report

Pediatric Neurology Briefs, 2010
An Infantile Spasms Working Group (ISWG) of 14 pediatric neurologists with expertise in IS participated in a 2-day workshop to discuss 1) the current state of IS management, 2) the evidence for efficacy of ACTH and vigabatrin (VGB), approved in the US in
J Gordon Millichap
doaj   +1 more source

The hairy elbows syndrome: clinical and neuroradiological findings. [PDF]

, 2008
The hairy elbows syndrome (HES) is a rare congenital phenotype characterized by an abnormal increase in long hairs localized on the upper limbs extensor surfaces.
CORSELLO, Giovanni, DI PACE, Maria Rita, DIDATO, Maria Angela, FONTANA, Antonina, MANGANO, Salvatore, NARDELLO, Rosaria, TRIPI, Gabriele   +6 more
core  

The multiple hit model of infantile and epileptic spasms: The 2025 update

Epilepsia Open, EarlyView.
Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou, Wenzhu B. Mowrey, Wei Liu, Anna Maria Katsarou, Qianyun Li, Oleksii Shandra, Solomon L. Moshé   +6 more
wiley   +1 more source

Ketogenic diet for infantile epileptic spasms

Epilepsia Open, EarlyView.
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury, Anamika Choudhary, Andy Cheuk‐Him Ng, Cezar Gavrilovici   +3 more
wiley   +1 more source

Highly purified cannabidiol (CBD) in CDKL5 deficiency disorder (CDD): Open‐label prospective study

Epilepsia Open, EarlyView.
Abstract Objective CDKL5 deficiency disorder (CDD) is an early‐onset developmental and epileptic encephalopathy characterized by frequent drug‐resistant seizures, cerebral visual impairment, motor dysfunction, and sleep and gastrointestinal disturbances.
Marco Perulli, Alessia De Gioia, Federica Ruggiero, Federica Ascione, Chiara Porto, Elisa Musto, Valentina Massaroni, Maria Picilli, Maria Luigia Gambardella, Michela Quintiliani, Ilaria Contaldo, Chiara Veredice, Domenica Immacolata Battaglia   +12 more
wiley   +1 more source

Prediction of treatment response in infantile epileptic spasms syndrome using EEG phase–amplitude coupling

Epilepsia Open, EarlyView.
Abstract Objective Treatment selection for infantile epileptic spasms syndrome (IESS) is complex and multifaceted, and currently no electroencephalogram (EEG) biomarkers can guide this decision by predicting treatment response. We tested the predictive value of phase–amplitude coupling (PAC) as IESS patients are known to have elevated PAC.
Soudeh Mostaghimi, Marco A. Pinto‐Orellana, Nathaniel Green, Daniel W. Shrey, Makoto Miyakoshi, Shaun A. Hussain, Beth A. Lopour   +6 more
wiley   +1 more source

Diagnostic reassessment in patients previously diagnosed with childhood‐onset epilepsy during the transition to adult care: A retrospective cohort study in a tertiary epilepsy center

Epilepsia Open, EarlyView.
Abstract Objective To investigate the frequency, predictors, and clinical implications of diagnostic reassessment in patients previously diagnosed with childhood‐onset epilepsy during the transition period to adult care at a tertiary epilepsy center. Methods We conducted a retrospective cohort study of 317 patients previously diagnosed with childhood ...
Tetsuhiro Fukuyama, Masaru Nasuno, Manami Yabe, Makoto Nishioka, Yumi Hoshino, Takenori Natsume, Kohei Kanaya, Kyoko Takano, Tomoki Kaneko, Yushi Inoue   +9 more
wiley   +1 more source

Review of nutrition management of pediatric intestinal pseudo‐obstruction

Nutrition in Clinical Practice, EarlyView.
Abstract Chronic intestinal pseudo‐obstruction (CIPO) is a rare, heterogeneous, and debilitating disorder characterized by profound intestinal dysmotility and severe nutrition challenges. Its presentation resembles that of mechanical bowel obstruction, but CIPO occurs in the absence of luminal obstruction.
Senthilkumar Sankararaman, Raisa Rani James, Bushra El‐Amaireh, Andrea Adler, Kadakkal Radhakrishnan, Sujithra Velayuthan   +5 more
wiley   +1 more source

Adapting Action Recognition Neural Networks for Automated Infantile Spasm Detection

IEEE Transactions on Neural Systems and Rehabilitation Engineering
Infantile spasms are a severe epileptic syndrome characterized by short muscular contractions lasting from 0.5 to 2 seconds. They are often misdiagnosed due to their atypical presentation, and treatment is frequently delayed, leading to stagnation or ...
Samuel Diop, Nouha Essid, Francois Jouen, Jean Bergounioux, Imen Trabelsi   +4 more
doaj   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source