Results 101 to 110 of about 8,633 (168)

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory

Clinical Genetics, EarlyView.
Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco, Malin Kvarnung, Anna Hammarsjö, Daniel Nilsson, Bianca Tesi, Britt Marie Anderlid, Giedre Grigelioniene, Maria Johansson Soller, Liselot van der Laan, Charlotte Willfors, Charlotta Ingvoldstad Malmgren, Anna Lindstrand, Tommy Stödberg, Ann Nordgren, Angelica Maria Delgado‐Vega   +14 more
wiley   +1 more source

More Hormones, Less Spasms: IGF-1 as a Potential Therapy for Infantile Spasms. [PDF]

Epilepsy Curr, 2023
Dang LT.
europepmc   +1 more source

Neuroimaging and neurophysiology in infantile‐onset epilepsy after neonatal stroke

Developmental Medicine &Child Neurology, EarlyView.
This population‐based retrospective cohort study of 55 newborn infants demonstrated that neonatal MRI and neonatal neurophysiology (amplitude‐integrated EEG, conventional EEG, and somatosensory evoked potentials) combined with follow‐up EEGs during the first year of life provide practical tools for identifying infants at the highest risk of developing ...
Sinikka La Grassa, Kirsi Mikkonen, Marjo Metsäranta, Sanna Toiviainen‐Salo, Sampsa Vanhatalo, Leena Lauronen, Päivi Nevalainen   +6 more
wiley   +1 more source

Vigabatrin-associated brain abnormalities on MRI in tuberous sclerosis complex patients with infantile spasms: are they preventable? [PDF]

Ther Adv Neurol Disord, 2022
Wan L, He W, Wang YY, Xu Y, Lu Q, Zhang MN, Wang QH, Dun S, Liu LY, Shi XY, Wang J, Hu LY, Zhang B, Yang G, Zou LP.   +14 more
europepmc   +1 more source

Perinatal complications, mode of delivery, and neurological morbidity in children with COL4A1/A2 variants

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To characterize reported perinatal complications and childhood neurological diagnoses among children with COL4A1/2 variants and explore associations between mode of delivery and selected neurological outcomes. Method This was a retrospective cross‐sectional patient registry study using surveys collected through the Gould Syndrome ...
Shraddha Pandey, Dawn Gano, Danielle Boyce, Rachel Vassar   +3 more
wiley   +1 more source

Response to magnesium sulfate and adrenocorticotropic hormone combination therapy for infantile spasms with failed first-line treatments. [PDF]

Pediatr Investig, 2023
Wang Q, He W, Wang Y, Liu L, Zhang M, Yang X, Zou L.   +6 more
europepmc   +1 more source

Newly identified human aminoacyl‐tRNA synthetase complex interacting multifunctional protein 2 (AIMP2) loss‐of‐function mutations cause neurodevelopmental defects linked to cell death in a zebrafish model

The FEBS Journal, EarlyView.
Human AIMP2 mutations lead to severe neurodevelopmental defects and brain atrophy. Using patient‐derived fibroblasts from two individuals, we show decreased AIMP2 protein levels and overall protein synthesis. In a zebrafish loss‐of‐function model, the lack of AIMP2 leads to an increase in cell death and results in smaller brains.
Patrick Mullen, Shenela Lakhani, Joshua Appelbaum, DéJenaé See, Pryce Patterson, Collin M. MacLeod, Alexandra George, Reza Maroofian, Margaret E. Ross, Christopher Francklyn, Alicia M. Ebert   +10 more
wiley   +1 more source

Inequities in Therapy for Infantile Spasms: A Call to Action. [PDF]

Ann Neurol, 2022
Baumer FM, Mytinger JR, Neville K, Briscoe Abath C, Gutierrez CA, Numis AL, Harini C, He Z, Hussain SA, Berg AT, Chu CJ, Gaillard WD, Loddenkemper T, Pasupuleti A, Samanta D, Singh RK, Singhal NS, Wusthoff CJ, Wirrell EC, Yozawitz E, Knupp KG, Shellhaas RA, Grinspan ZM, Pediatric Epilepsy Research Consortium, National Infantile Spasms Consortium.   +24 more
europepmc   +1 more source

“Not Lower Class, Lazy Class”: Food Loathing as Class Abjection and Distinction via Instagram Comments on Mama J. Rae's Lunchbox‐Packing Video

Journal of Sociolinguistics, EarlyView.
ABSTRACT This article examines 4206 Instagram comments on a lunchbox‐packing video posted by Mama J. Rae, who self‐identifies as a “lower middle class wife.” Her excessive use of processed foods and sugary beverages provokes negative responses, many of which explicitly connect her lunchbox‐packing practices to class identity.
Hanwool Choe
wiley   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source