Results 141 to 150 of about 8,895 (193)

Considerations for Carnosine Actions in Biology. [PDF]

Neurochem Res
Parmeggiani B, Ferreira BK, Schuck PF, Ferreira GC.   +3 more
europepmc   +1 more source

Predictive utility of a simple cranial magnetic resonance imaging score at term‐equivalent age for cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
This study evaluated the Total Abnormality Score (TAS) from cMRI at term‐equivalent age as a predictor of cerebral palsy (CP) in 137 infants born preterm or with low birthweight. Infants who developed CP had significantly higher TAS values (median 11 vs 2), with a TAS cut‐off of 9.5 demonstrating high sensitivity (88.9%) and specificity (91.4%) for CP ...
Anne‐Kathrin Dathe, Britta Maria Huening, Pia Deborah Weber, Uta Teschler, Maire Brasseler, Ursula Felderhoff‐Mueser, Monia Vanessa Dewan   +6 more
wiley   +1 more source

Progressive encephalopathy associated with novel compound heterozygous NAXE mutations in a Chinese patient: case report and literature review. [PDF]

Front Pediatr
Zhu Y, He P, Luo R, Chen X.
europepmc   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Descrição atualizada da paralisia cerebral

Developmental Medicine &Child Neurology, EarlyView.
Resumo A paralisia cerebral (PC) é um termo descritivo amplamente utilizado para um espectro de deficiências motoras causadas por lesão ou malformação cerebral não progressiva ocorrida durante as fases iniciais do desenvolvimento. Avanços recentes nas áreas da genética, de pesquisa em inflamação e em neurofisiologia têm refinado a compreensão ...
Bernard Dan, Peter Rosenbaum, Lucinda Carr, Martin Gough, John Coughlan, Nonyelum Nweke   +5 more
wiley   +1 more source

Merging evans syndrome with mucopolysaccharidosis type II: a case report. [PDF]

Front Pediatr
Wang X, Zhang J, Tang Y, Liu C, Hu P, Yang Y, Chen H.   +6 more
europepmc   +1 more source

MRI, Child Opportunity Index, and 4‐year cognitive outcome after neonatal encephalopathy

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To evaluate the association of neonatal magnetic resonance imaging (MRI) and Child Opportunity Index (COI) with 4‐year cognitive outcomes after neonatal encephalopathy. Method This was a cross‐sectional analysis of 4‐year outcomes (interquartile range [IQR] = 48–52 months) in a single‐center prospective cohort of term neonatal ...
Ashley M. Bach, Eun Song Song, A. James Barkovich, Matthew J. Barkovich, Elizabeth E. Rogers, Donna M. Ferriero, Hannah C. Glass, Dawn Gano   +7 more
wiley   +1 more source

A challenging case of Down syndrome regression disorder. [PDF]

Arq Neuropsiquiatr
Monteiro LKM, Santos AP, Lima HSM, Campos RSM, Gandara JMB, Araújo LC, Barbosa BJAP.   +6 more
europepmc   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source