Results 41 to 50 of about 88,012 (270)

Seizures, Retardation, and Creatine Synthesis Defect

Pediatric Neurology Briefs, 2000
Two unrelated boys, aged 2 and 5 years, with psychomotor retardation, hyperactive behavior, and epilepsy, associated with a creatine synthesis defect, are reported from Free University Hospital, Amsterdam, The Netherlands.
J Gordon Millichap
doaj   +1 more source

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR‐Gene Family

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source

Orotic Aciduria [PDF]

, 2018
Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core   +1 more source

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation [PDF]

, 2010
Objective Mitochondrial disturbances of energy-generating systems in childhood are a heterogeneous group of disorders. The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency ...
Bodamer, O, Freisinger, P, Hansikova, H, Honzik, T, Houstek, J, Huemer, M, Jesina, P, Kmoch, S, Koch, J, Kostkova, O, Magner, M, Mayr, JA, Sperl, W, Tesarova, M, Van Coster, Rudy, Zeman, J   +15 more
core   +2 more sources

‘SOMS BrainSpace’: A digital serious game for undergraduate neuroscience

Anatomical Sciences Education, EarlyView.
Abstract Neuroanatomy is challenging for many undergraduates, requiring strong visuospatial skills and a deep understanding of complex concepts. This study developed and evaluated SOMS BrainSpace, a digital serious game for neuroanatomy education, using a mixed methods approach.
Anthony Tran, Jin Y. Huang, Craig R. Campbell, Elizabeth M. Hegedus   +3 more
wiley   +1 more source

A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism

The Turkish Journal of Pediatrics, 2014
Distal 11q deletion, previously known as Jacobsen syndrome, is caused by segmental aneusomy for the distal end of the long arm of chromosome 11.
Pelin Özlem Şimşek-Kiper, Yavuz Bayram, Gülen Eda Ütine, Yasemin Alanay, Koray Boduroğlu   +4 more
doaj  

Quality of life of preschool children with psychomotor development disorders and their families. Availability of medical care and quality of its provision for this category of patients

Zdorovʹe Rebenka, 2022
Background. Improving the quality of life of neurologicaly impaired child and his family is an issue of particular importance. The purpose of the study was to assess the quality of life of children with psychomotor development disorders and their ...
S.L. Niankovskyy, A.I. Pushnyk
doaj   +1 more source

The bridge between classical and ‘synthetic’/chemical psychoses: towards a clinical, psychopathological and therapeutic perspective [PDF]

, 2019
© 2019 Orsolini, Chiappini, Papanti, De Berardis, Corkery and Schifano. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY).
Chiappini, Stephania, Corkery, John Martin, De Berardis, Domenico, Orsolini, Laura, Papanti, Duccio, Schifano, Fabrizio   +5 more
core   +2 more sources

Associating cognitive abilities with naturalistic search behavior

Journal of the Association for Information Science and Technology, Volume 76, Issue 4, Page 665-685, April 2025.
Abstract Differences in cognitive abilities affect search behaviors, but this has mostly been observed in laboratory experiments. There is limited research on how users search for information in real‐world, naturalistic settings and how real‐world search behaviors relate to cognitive abilities.
Tung Vuong, Pritom Kumar Das, Tuukka Ruotsalo   +2 more
wiley   +1 more source

Subjective experience, psychosocial functioning and different psychomotor clusters in catatonia: How are they connected?

Biomarkers in Neuropsychiatry
Background: Catatonia involves decreased, increased, and abnormal psychomotor activity, but most previous studies mainly focused on motor signs, neglecting the patients' subjective experiences. This study aimed to characterize psychomotor activity levels
Geva A. Brandt, Stefan Fritze, Dilsa Cemre Akkoc Altinok, Sebastian Volkmer, Jacqueline Kukovic, Jonas Daub, Katharina M. Kubera, Georg Northoff, Andreas Meyer-Lindenberg, Dusan Hirjak   +9 more
doaj   +1 more source