Results 31 to 40 of about 220,579 (147)
Inferior Turbinate Abscess from Bulb Suctioning in a Pediatric Patient. [PDF]
OTO OpenOTO Open, Volume 8, Issue 2, April–June 2024.
Duffy CD +3 more
europepmc +2 more sources
X‐linked neuronal migration disorders: Gender differences and insights for genetic screening
International Journal of Developmental Neuroscience, Volume 83, Issue 7, Page 581-599, November 2023., 2023 Abstract Cortical development depends on neuronal migration of both excitatory and inhibitory interneurons. Neuronal migration disorders (NMDs) are conditions characterised by anatomical cortical defects leading to varying degrees of neurocognitive impairment, developmental delay and seizures.
Juliet Edey +4 more
wiley +1 more source
Epilepsia, Volume 64, Issue 7, Page 1750-1765, July 2023., 2023 Abstract Intracerebroventricular (ICV) administration is increasingly being explored as a means for delivering antiseizure and antiepileptic therapies to epileptic brain tissue. This route bypasses the blood–brain barrier, thus enabling the delivery of therapeutics that are restricted from the brain, while reducing the risk of systemic adverse ...
Firas Fahoum, Sara Eyal
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1395-1400, May 2023., 2023 Abstract NFIB belongs to the nuclear factor I (NFI) family of transcription factors that, by activating or repressing gene expression during embryogenesis, has a relevant role in the development of several organs including the brain. Heterozygous pathogenic variants of NFIB have recently been associated with developmental delay and mild‐to‐moderate ...
Simone Gana +7 more
wiley +1 more source
Large orbital glial heterotopia- A rare entity
Indian Journal of Pathology and Microbiology, 2022 A 15-month-old child was brought to the ophthalmology outpatient department with his parents complaining of a large mass located on the nasal side of his right eye since birth. On examination, an irregular mass was seen to be located on the nasal side of
Sujeeth Modaboyina +4 more
doaj +1 more source
Axonal pathfinding during the development of the nervous system
Annals of the Child Neurology Society, Volume 1, Issue 1, Page 13-23, March 2023., 2023 Abstract Guidance of axons sprouting from maturing neuroblasts, during intermediate trajectories and in seeking target neurons for synaptogenesis, is a fundamental developmental process in central nervous system maturation. Axons but not dendrites sprout from neuroblasts during migration.
Harvey B. Sarnat
wiley +1 more source
Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research
Annals of the Child Neurology Society, Volume 1, Issue 1, Page 24-37, March 2023., 2023 Abstract Pyridoxine‐dependent epilepsy (PDE) was historically defined by a dramatic clinical response to a trial of pyridoxine and the re‐emergence of seizures after withdrawal of pyridoxine. Research conducted over the last seven decades has revealed that the phenotype of PDE results from multiple genetic disorders, and the most common disorder, PDE ...
Curtis R. Coughlin II +1 more
wiley +1 more source
Further characterization of NFIB‐associated phenotypes: Report of two new individuals
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 540-545, February 2023., 2023 Abstract Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23‐p22.3 containing NFIB.
Gemma Marinella +8 more
wiley +1 more source
The genomics and epigenetics of olfactory neuroblastoma: A systematic review
Laryngoscope Investigative Otolaryngology, Volume 6, Issue 4, Page 721-728, August 2021., 2021 Abstract Background Olfactory neuroblastoma (ONB) or esthesioneuroblastoma (ENB) is a rare malignancy of the nasal cavity believed to arise from the olfactory epithelium. The goal of this study was to systematically review the genomics, epigenetics, and cytogenetics of ONB and to understand the potential clinical implications of these studies.
Raman Preet Kaur +8 more
wiley +1 more source
Nasopharyngeal Glial Heterotopia with Intracranial Extension: A Case Report [PDF]
, 2018 Nasopharyngeal glial heterotopia is a mass composed of mature neural tissue occurring outside the central nervous system and is extremely rare. The preoperative diagnosis of such a mass in the head and neck region is challenging. In this study, we report
İlker Koçak +5 more
core +1 more source