Results 101 to 110 of about 14,532 (228)

Correlation study between genetic polymorphisms of melanocortin receptors and adrenocorticotropic hormone responsiveness in infantile spasms

Chinese Journal of Contemporary Neurology and Neurosurgery, 2012
Objective To explore the possible correlation between the genetic variations of the melanocortin receptors (MCRs, including MC2R, MC3R and MC4R) and adrenocorticotropic hormone (ACTH) responsiveness in patients with infantile spasms, and to investigate ...
Xiu⁃yu SHI, Ying⁃xue DING, Zhan⁃li LIU, Kai⁃li SHI, Li⁃ping ZOU   +4 more
doaj  

Oral findings in West syndrome – A Case Report

Brazilian Dental Science, 2017
West syndrome is a severe form of epilepsy syndrome which is characterized by triad of infantile spasms, EEG findings (hypsarrhythmia) and developmental delay.
Sheetal Dilip Badnaware, Shely Pratik Dedhia, Rajiv Desai, Adesh Kakade   +3 more
doaj   +1 more source

mTOR pathway inhibition as a new therapeutic strategy in epilepsy and epileptogenesis. [PDF]

, 2016
Several preclinical and some clinical studies have revealed that the mammalian target of rapamycin (mTOR) signaling pathway is involved in both genetic and acquired epilepsy syndromes.
Citraro, R, Constanti, A, Leo, A, Russo, E, Sarro, G   +4 more
core   +1 more source

Prominent Chiari Network as a Cause of Cyanosis in Infants: A Case Report and Implications for Pediatric Cardiology Practice

Journal of Clinical Ultrasound, EarlyView.
A prominent Chiari network can cause cyanosis in infants by inducing a positional right‐to‐left atrial shunt. Accurate diagnosis enabled conservative management, delaying surgery until optimal conditions. This case emphasizes the importance of echocardiographic evaluation in differentiating cyanosis mechanisms to guide appropriate treatment in ...
Carmen Rodríguez‐Barrios, Irene Gutierrez‐Rosa, Moises Rodriguez‐Gonzalez   +2 more
wiley   +1 more source

Infantile spams without hypsarrhythmia: A study of 16 cases [PDF]

, 2010
In this study, we present the electroclinical features and evolution of patients with epileptic spasms (ES) in clusters without hypsarrhythmia and with or without focal or generalized paroxysmal discharges on the interictal EEG.
Caraballo, Roberto Horacio, Ruggieri, Victor, Gonzalez, Gabriel, Cersósimo, Ricardo, Gamboni, Beatriz, Rey, Andrea, Poveda, Juan Carlos Perez, Dalla Bernardina, Bernardo   +7 more
core   +1 more source

Interhospital variation in the management of Brief Resolved Unexplained Events (BRUE) in infants: A Canadian multicenter cohort study

Journal of Hospital Medicine, EarlyView.
Abstract Background Guidelines on Brief Resolved Unexplained Event (BRUE) only provide recommendations for infants categorized at lower risk. However, most infants fall into the higher‐risk category, leaving management decisions to individual clinicians and contributing to variation in care.
Nassr Nama, Kara Picco, Polina Kyrychenko, Jeffrey N. Bone, Julie Quet, Jessica L. Foulds, Josée Anne Gagnon, Chris Novak, Brigitte Parisien, Matthew Donlan, Ran D. Goldman, Anupam Sehgal, Ronik Kanani, Joanna Holland, Sanjay Mahant, Eric Coon, Joel S. Tieder, Peter J. Gill, The Canadian BRUE Collaboration (C‐BRUE‐C) and the Canadian Paediatric Inpatient Research Network (PIRN)   +18 more
wiley   +1 more source

How do the many etiologies of West syndrome lead to excitability and seizures? The corticotropin releasing hormone excess hypothesis. [PDF]

, 2001
West syndrome (WS) is associated with diverse etiological factors. This fact has suggested that there must be a 'final common pathway' for these etiologies, which operates on the immature brain to result in WS only at the maturational state present ...
Baram, TZ, Brunson, KL, Eghbal-Ahmadi, M
core  

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

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

Infantile spasms: A prognostic evaluation

Annals of Indian Academy of Neurology, 2016
Few papers address the comprehensive prognosis in infantile spasms and look into the seizure profile and psychomotor outcome.We aimed to follow up children with infantile spasms to study: a) the etiology, demographics, semiology, electroencephalogram (EEG), and radiological pattern; b) seizure control, psychomotor development, and EEG resolution with ...
Shahanaz M. Ahamed, Puthuvathra Abdul Mohammed Kunju, Muttathu Krishnapanicker Chandrasekharan Nair, Devi Mohan, Geetha Saradakutty, Mary Iype, Babu George   +6 more
openaire   +4 more sources